9606:TLX2
gene id: 9606:TLX2
uniprot id: O43763
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno comments: Disordered
up seq anno comments: Homeobox
up seq anno comments: Pro residues
up seq anno comments: T-cell leukemia homeobox protein 2
up seq anno feature ids: PRO_0000049336

9606:SUCO
gene id: 9606:SUCO
uniprot id: A0A087WV04
uniprot id: B4DYM4
uniprot id: Q9UBS9
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: SUN
up seq anno comments: SUN domain-containing ossification factor
up seq anno feature ids: PRO_5000065707
up seq anno feature ids: PRO_5014567694
up seq anno feature ids: VSP_027921
up seq anno feature ids: VSP_027922
up seq anno feature ids: VSP_027923

9606:TUBB4A
gene id: 9606:TUBB4A
uniprot id: P04350
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: 5-glutamyl polyglutamate
up seq anno comments: In DYT4.
up seq anno comments: In HLD6.
up seq anno comments: MREI motif
up seq anno comments: Phosphoserine; by CDK1
up seq anno comments: Tubulin beta-4A chain
up seq anno feature ids: PRO_0000048252
up seq anno feature ids: VAR_026044
up seq anno feature ids: VAR_052673
up seq anno feature ids: VAR_069798
up seq anno feature ids: VAR_069799

9606:AP3M1
gene id: 9606:AP3M1
uniprot id: B4DRN6
uniprot id: Q9Y2T2
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno comments: AP-3 complex subunit mu-1
up seq anno comments: MHD
up seq anno feature ids: PRO_0000193781

9606:SKAP1
gene id: 9606:SKAP1
uniprot id: Q86WV1
uniprot id: V9HW03
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Abolishes FYB1-dependent activation of ITGAL clustering.
up seq anno comments: Abolishes homodimerization, interaction with FYB1 and activation of the MAP kinase pathway.
up seq anno comments: Abolishes interaction with PTPRC, translocation to cell membrane upon T-cell stimulation and activation of the MAP kinase pathway. No effect on interaction with FYN or GRB2.
up seq anno comments: Acidic residues
up seq anno comments: Disordered
up seq anno comments: Impairs interaction with FYB1.
up seq anno comments: Impairs interaction with PTPRC. No effect on interaction with FYN or GRB2.
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with FYB1
up seq anno comments: No effect on interaction with PTPRC and translocation to cell membrane upon T-cell stimulation. Abolishes interaction with FYN and GRB2 and activation of the MAP kinase pathway.
up seq anno comments: PH
up seq anno comments: Phosphotyrosine
up seq anno comments: Phosphotyrosine; by FYN
up seq anno comments: SH3
up seq anno comments: Src kinase-associated phosphoprotein 1
up seq anno feature ids: PRO_0000270173
up seq anno feature ids: VAR_029811
up seq anno feature ids: VAR_035343
up seq anno feature ids: VSP_022179

9606:CCDC169
gene id: 9606:CCDC169
uniprot id: A6NNP5
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Coiled-coil domain-containing protein 169
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3 and isoform 5.
up seq anno comments: In isoform 3, isoform 4 and isoform 6.
up seq anno comments: In isoform 6.
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000341366
up seq anno feature ids: VAR_057811
up seq anno feature ids: VSP_035636
up seq anno feature ids: VSP_035637
up seq anno feature ids: VSP_040479
up seq anno feature ids: VSP_040480
up seq anno feature ids: VSP_043810
up seq anno feature ids: VSP_043811

9606:MMS22L
gene id: 9606:MMS22L
uniprot id: Q6ZRQ5
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Abolished interaction with RAD51.
up seq anno comments: Does not affect interaction with RAD51.
up seq anno comments: Protein MMS22-like
up seq anno feature ids: PRO_0000260216
up seq anno feature ids: VAR_029013
up seq anno feature ids: VAR_029014
up seq anno feature ids: VAR_029015
up seq anno feature ids: VAR_029016

9606:H3C10
gene id: 9606:H3C10
uniprot id: P68431
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno comments: 5-glutamyl dopamine; alternate
up seq anno comments: 5-glutamyl serotonin; alternate
up seq anno comments: ADP-ribosylserine; alternate
up seq anno comments: Allysine; alternate
up seq anno comments: Asymmetric dimethylarginine; by CARM1; alternate
up seq anno comments: Asymmetric dimethylarginine; by PRMT6; alternate
up seq anno comments: Citrulline
up seq anno comments: Citrulline; alternate
up seq anno comments: Disordered
up seq anno comments: Histone H3.1
up seq anno comments: In GLM; non-brain stem pediatric glioblastoma and diffuse intrinsic pontine glioma; somatic mutation; results in a global decrease of H3K27me3 levels.
up seq anno comments: N6,N6,N6-trimethyllysine; alternate
up seq anno comments: N6,N6-dimethyllysine; alternate
up seq anno comments: N6-(2-hydroxyisobutyryl)lysine; alternate
up seq anno comments: N6-(beta-hydroxybutyryl)lysine; alternate
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-butyryllysine; alternate
up seq anno comments: N6-crotonyllysine; alternate
up seq anno comments: N6-decanoyllysine
up seq anno comments: N6-glutaryllysine; alternate
up seq anno comments: N6-lactoyllysine; alternate
up seq anno comments: N6-methyllysine
up seq anno comments: N6-methyllysine; alternate
up seq anno comments: N6-methyllysine; by EHMT2; alternate
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; alternate; by AURKB, AURKC and RPS6KA5
up seq anno comments: Phosphoserine; alternate; by AURKB, AURKC, RPS6KA3, RPS6KA4 and RPS6KA5
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by HASPIN
up seq anno comments: Phosphothreonine; by PKC
up seq anno comments: Phosphothreonine; by PKC and CHEK1
up seq anno comments: Phosphotyrosine
up seq anno comments: Probable disease-associated variant found in pediatric undifferentiated soft tissue sarcoma samples; somatic mutation; also found in a subset of human papillomavirus-negative head and neck squamous cell carcinomas; results in global decrease of H3K36me2 and H3K36me3 levels and increased H3K27me3 levels.
up seq anno comments: Probable disease-associated variant found in pediatric undifferentiated soft tissue sarcoma samples; somatic mutation; results in global decrease of H3K36me2 and H3K36me3 levels and increased H3K27me3 levels.
up seq anno comments: Removed
up seq anno comments: Symmetric dimethylarginine; by PRMT5; alternate
up seq anno feature ids: PRO_0000221245
up seq anno feature ids: VAR_079018
up seq anno feature ids: VAR_079019
up seq anno feature ids: VAR_079020

9606:TAGLN2
gene id: 9606:TAGLN2
uniprot id: A0A384MTL2
uniprot id: P37802
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Calponin-homology (CH)
up seq anno comments: Calponin-like
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno comments: Transgelin-2
up seq anno feature ids: PRO_0000204786
up seq anno feature ids: VAR_047903
up seq anno feature ids: VSP_055311

9606:DHX32
gene id: 9606:DHX32
uniprot id: Q7L7V1
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: DEAH box
up seq anno comments: Disordered
up seq anno comments: Helicase ATP-binding
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylmethionine
up seq anno comments: Putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX32
up seq anno feature ids: PRO_0000292663
up seq anno feature ids: VAR_035843
up seq anno feature ids: VAR_052181
up seq anno feature ids: VAR_052182
up seq anno feature ids: VAR_052183
up seq anno feature ids: VSP_026427

9606:CYP27C1
gene id: 9606:CYP27C1
uniprot id: Q4G0S4
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transit Peptide
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transit Peptide
up seq anno comments: Cytochrome P450 27C1
up seq anno comments: Disordered
up seq anno comments: In isoform 1.
up seq anno comments: Mitochondrion
up seq anno comments: axial binding residue
up seq anno feature ids: PRO_0000293732
up seq anno feature ids: VAR_033120
up seq anno feature ids: VSP_060866

9606:IL11RA
gene id: 9606:IL11RA
uniprot id: Q14626
uniprot id: Q5VZ79
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: Decreases proteolyisis by ADAM10.
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Fibronectin type-III
up seq anno comments: Fibronectin type-III 1
up seq anno comments: Fibronectin type-III 2
up seq anno comments: Helical
up seq anno comments: Ig-like
up seq anno comments: Ig-like C2-type
up seq anno comments: In CRSDA.
up seq anno comments: In CRSDA; renders the receptor unable to mediate the IL11 signal.
up seq anno comments: In isoform HCR2.
up seq anno comments: Interleukin-11 receptor subunit alpha
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Soluble interleukin-11 receptor subunit alpha
up seq anno comments: WSXWS motif
up seq anno feature ids: PRO_0000010913
up seq anno feature ids: PRO_0000450688
up seq anno feature ids: PRO_5014310174
up seq anno feature ids: VAR_019821
up seq anno feature ids: VAR_019822
up seq anno feature ids: VAR_066666
up seq anno feature ids: VAR_066667
up seq anno feature ids: VAR_066668
up seq anno feature ids: VAR_066669
up seq anno feature ids: VSP_011879

9606:EEF2
gene id: 9606:EEF2
uniprot id: P13639
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno comments: (Microbial infection) ADP-ribosyldiphthamide
up seq anno comments: Cleavage
up seq anno comments: Confers resistance to diphtheria toxin.
up seq anno comments: Diphthamide
up seq anno comments: Elongation factor 2
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
up seq anno comments: In SCA26; compromises the mechanics of translocation.
up seq anno comments: N6,N6,N6-trimethyllysine; by EEF2KMT
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-succinyllysine
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CDK2
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by EEF2K
up seq anno comments: Phosphotyrosine; by CSK
up seq anno comments: Removed
up seq anno comments: Strongly reduced phosphorylation at Thr-57.
up seq anno comments: tr-type G
up seq anno feature ids: PRO_0000091000
up seq anno feature ids: VAR_070792

9606:ZDHHC24
gene id: 9606:ZDHHC24
uniprot id: E9PI61
uniprot id: E9PLR9
uniprot id: Q6UX98
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Site
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: DHHC
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Palmitoyltransferase DHHC
up seq anno comments: Probable palmitoyltransferase ZDHHC24
up seq anno comments: S-palmitoyl cysteine intermediate
up seq anno feature ids: PRO_0000233710

9606:HES5
gene id: 9606:HES5
uniprot id: Q5TA89
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Motif
up seq anno labels: Region
up seq anno comments: Disordered
up seq anno comments: Orange
up seq anno comments: Pro residues
up seq anno comments: Transcription factor HES-5
up seq anno comments: WRPW motif
up seq anno comments: bHLH
up seq anno feature ids: PRO_0000269175

9606:REP15
gene id: 9606:REP15
uniprot id: Q6BDI9
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Lipid Binding
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: N-myristoyl glycine
up seq anno comments: Rab15 effector protein
up seq anno comments: Removed
up seq anno feature ids: PRO_0000323587
up seq anno feature ids: VAR_039548
up seq anno feature ids: VAR_039549

9606:NME9
gene id: 9606:NME9
uniprot id: Q86XW9
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: NDK
up seq anno comments: Thioredoxin
up seq anno comments: Thioredoxin domain-containing protein 6
up seq anno feature ids: PRO_0000120161
up seq anno feature ids: VSP_010375
up seq anno feature ids: VSP_010376
up seq anno feature ids: VSP_010377
up seq anno feature ids: VSP_010378

9606:IQUB
gene id: 9606:IQUB
uniprot id: Q8NA54
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Found in a patient with spermatogenic failure with radial spoke defects; binding to RSPH3 and calmodulin is abrogated.
up seq anno comments: IQ
up seq anno comments: IQ and ubiquitin-like domain-containing protein
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno comments: Ubiquitin-like
up seq anno feature ids: PRO_0000274601
up seq anno feature ids: VAR_030332
up seq anno feature ids: VAR_030333
up seq anno feature ids: VAR_030334
up seq anno feature ids: VAR_036291
up seq anno feature ids: VAR_087798
up seq anno feature ids: VSP_022830
up seq anno feature ids: VSP_022831

9606:KMT2B
gene id: 9606:KMT2B
uniprot id: Q9UMN6
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Zinc Finger
up seq anno comments: A.T hook 1
up seq anno comments: A.T hook 2
up seq anno comments: A.T hook 3
up seq anno comments: Abolishes interaction with S-adenosyl-L-methionine.
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: C2HC pre-PHD-type
up seq anno comments: CXXC-type
up seq anno comments: Disordered
up seq anno comments: FYR C-terminal
up seq anno comments: FYR N-terminal
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Histone-lysine N-methyltransferase 2B
up seq anno comments: In DYT28.
up seq anno comments: In DYT28; unknown pathological significance.
up seq anno comments: In MRD68.
up seq anno comments: Menin-binding motif (MBM)
up seq anno comments: N-acetylalanine
up seq anno comments: PHD-type 1
up seq anno comments: PHD-type 2
up seq anno comments: PHD-type 3
up seq anno comments: PHD-type 4
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Post-SET
up seq anno comments: Pro residues
up seq anno comments: Removed
up seq anno comments: SET
up seq anno comments: WDR5 interaction motif (WIN)
up seq anno feature ids: PRO_0000124881
up seq anno feature ids: VAR_046563
up seq anno feature ids: VAR_046564
up seq anno feature ids: VAR_046565
up seq anno feature ids: VAR_052653
up seq anno feature ids: VAR_052654
up seq anno feature ids: VAR_052655
up seq anno feature ids: VAR_061913
up seq anno feature ids: VAR_080233
up seq anno feature ids: VAR_080234

9606:ITGB1BP1
gene id: 9606:ITGB1BP1
uniprot id: B4DQY5
uniprot id: O14713
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Abolishes ITGB1 binding.
up seq anno comments: Abolishes KRIT1 binding; when associated with A-93.
up seq anno comments: Abolishes KRIT1 binding; when associated with A-96.
up seq anno comments: Abolishes nuclear import and transcriptional activity.
up seq anno comments: Changes in cell spreading.
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Integrin beta-1-binding protein 1
up seq anno comments: Interaction with ITGB1
up seq anno comments: Interaction with KRIT1
up seq anno comments: No effect on ITGB1 binding.
up seq anno comments: Nuclear localization signal
up seq anno comments: PID
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine; by CaMK2
up seq anno comments: Polar residues
up seq anno comments: Reduces ITGB1 binding.
up seq anno comments: Reduces KRIT1 and ITGB1 binding.
up seq anno comments: Reduces KRIT1 binding. No effect on ITGB1 binding.
up seq anno comments: Stimulates cell spreading on fibronectin to a similar extent as inhibition of CaMKII.
up seq anno comments: Strong defect in cell spreading.
up seq anno feature ids: PRO_0000084264
up seq anno feature ids: VSP_003898

9606:SNURF
gene id: 9606:SNURF
uniprot id: P63162
uniprot id: Q9Y675
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Asymmetric dimethylarginine; alternate
up seq anno comments: Dimethylated arginine; alternate
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Omega-N-methylarginine; alternate
up seq anno comments: Pro residues
up seq anno comments: Repeat-rich region
up seq anno comments: SNRPN upstream reading frame protein
up seq anno comments: Sm
up seq anno comments: Small nuclear ribonucleoprotein-associated protein N
up seq anno feature ids: PRO_0000125523
up seq anno feature ids: PRO_0000312993
up seq anno feature ids: VSP_056488

9606:LAMP5
gene id: 9606:LAMP5
uniprot id: Q9UJQ1
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cell surface localization.
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Lysosome-associated membrane glycoprotein 5
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000021031
up seq anno feature ids: VAR_014401
up seq anno feature ids: VAR_014402
up seq anno feature ids: VAR_014403
up seq anno feature ids: VAR_014404
up seq anno feature ids: VSP_037186

9606:PSMB7
gene id: 9606:PSMB7
uniprot id: E9KL30
uniprot id: Q99436
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Propeptide
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: In isoform 2.
up seq anno comments: Nucleophile
up seq anno comments: Proteasome beta subunit C-terminal
up seq anno comments: Proteasome subunit beta type-7
up seq anno comments: Removed in mature form
up seq anno feature ids: PRO_0000026645
up seq anno feature ids: PRO_0000026646
up seq anno feature ids: VAR_013292
up seq anno feature ids: VSP_056573
up seq anno feature ids: VSP_056574

9606:STARD8
gene id: 9606:STARD8
uniprot id: Q92502
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Asymmetric dimethylarginine
up seq anno comments: Disordered
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: No effect on cell morphology when overexpressed.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Rho-GAP
up seq anno comments: START
up seq anno comments: StAR-related lipid transfer protein 8
up seq anno feature ids: PRO_0000220676
up seq anno feature ids: VAR_036588
up seq anno feature ids: VAR_036589
up seq anno feature ids: VAR_061816
up seq anno feature ids: VSP_032984

9606:SEPSECS
gene id: 9606:SEPSECS
uniprot id: A1A4F3
uniprot id: Q9HD40
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: In PCH2D.
up seq anno comments: In PCH2D; abrogates enzyme activity.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Inactive in vivo.
up seq anno comments: Indistinguishable from wild-type.
up seq anno comments: Loss of activity.
up seq anno comments: May act as a substrate filter by repelling compounds with a negatively charged alpha-carboxylate
up seq anno comments: N6-(pyridoxal phosphate)lysine
up seq anno comments: O-phosphoseryl-tRNA(Sec) selenium transferase
up seq anno comments: Phosphate loop (P-loop)
up seq anno comments: Phosphoserine
up seq anno comments: SLA/LP epitope
up seq anno comments: Tetramerization
up seq anno feature ids: PRO_0000219875
up seq anno feature ids: VAR_065585
up seq anno feature ids: VAR_065586
up seq anno feature ids: VAR_074163
up seq anno feature ids: VSP_038078
up seq anno feature ids: VSP_038079
up seq anno feature ids: VSP_038080

9606:AK9
gene id: 9606:AK9
uniprot id: Q5TCS8
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Acidic residues
up seq anno comments: Adenylate kinase 1
up seq anno comments: Adenylate kinase 2
up seq anno comments: Adenylate kinase 3
up seq anno comments: Adenylate kinase 9
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 1.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: LID 1
up seq anno comments: LID 2
up seq anno comments: LID 3
up seq anno comments: NMP 1
up seq anno comments: NMP 2
up seq anno comments: NMPbind 3
up seq anno feature ids: PRO_0000304138
up seq anno feature ids: VSP_028008
up seq anno feature ids: VSP_028009
up seq anno feature ids: VSP_028010
up seq anno feature ids: VSP_028011
up seq anno feature ids: VSP_039638
up seq anno feature ids: VSP_039639
up seq anno feature ids: VSP_039640
up seq anno feature ids: VSP_039641
up seq anno feature ids: VSP_039642
up seq anno feature ids: VSP_039643
up seq anno feature ids: VSP_039644

9606:FKBP6
gene id: 9606:FKBP6
uniprot id: O75344
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: In SPGF77.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Inactive peptidyl-prolyl cis-trans isomerase FKBP6
up seq anno comments: PPIase FKBP-type
up seq anno comments: TPR 1
up seq anno comments: TPR 2
up seq anno comments: TPR 3
up seq anno feature ids: PRO_0000075329
up seq anno feature ids: VAR_070840
up seq anno feature ids: VAR_087742
up seq anno feature ids: VAR_087743
up seq anno feature ids: VSP_042038
up seq anno feature ids: VSP_054251

9606:CFB
gene id: 9606:CFB
uniprot id: A0A1U9X7H8
uniprot id: P00751
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: C3/C5 convertase
up seq anno comments: Charge relay system
up seq anno comments: Complement factor B
up seq anno comments: Complement factor B Ba fragment
up seq anno comments: Complement factor B Bb fragment
up seq anno comments: Decreases binding to the pro-C3-convertase complex. Does not affect Complement C3 beta chain binding.
up seq anno comments: In AHUS4.
up seq anno comments: In AHUS4; benign variant.
up seq anno comments: In AHUS4; gain-of-function mutation that results in enhanced formation of the C3bBb.
up seq anno comments: In allele FA.
up seq anno comments: In allele FA; requires 2 nucleotide substitutions.
up seq anno comments: In allele S.
up seq anno comments: In allele S; may be associated with a reduced risk for age-related macular degeneration.
up seq anno comments: In isoform 2.
up seq anno comments: May be associated with a reduced risk for age-related macular degeneration.
up seq anno comments: N-linked (Glc) (glycation) lysine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Peptidase S1
up seq anno comments: Sushi
up seq anno comments: Sushi 1
up seq anno comments: Sushi 2
up seq anno comments: Sushi 3
up seq anno comments: VWFA
up seq anno feature ids: PRO_0000027545
up seq anno feature ids: PRO_0000027546
up seq anno feature ids: PRO_0000027547
up seq anno feature ids: PRO_5014275538
up seq anno feature ids: VAR_006492
up seq anno feature ids: VAR_006493
up seq anno feature ids: VAR_006494
up seq anno feature ids: VAR_006495
up seq anno feature ids: VAR_016274
up seq anno feature ids: VAR_016275
up seq anno feature ids: VAR_016276
up seq anno feature ids: VAR_016277
up seq anno feature ids: VAR_016278
up seq anno feature ids: VAR_063221
up seq anno feature ids: VAR_063222
up seq anno feature ids: VAR_063659
up seq anno feature ids: VAR_063660
up seq anno feature ids: VAR_063661
up seq anno feature ids: VAR_063662
up seq anno feature ids: VAR_063663
up seq anno feature ids: VAR_063664

9606:MUC5B
gene id: 9606:MUC5B
uniprot id: Q9HC84
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: 11 X approximate tandem repeats, Ser/Thr-rich
up seq anno comments: 17 X approximate tandem repeats, Ser/Thr-rich
up seq anno comments: 23 X approximate tandem repeats, Ser/Thr-rich
up seq anno comments: 7 X Cys-rich subdomain repeats
up seq anno comments: C-linked (Man) tryptophan
up seq anno comments: CTCK
up seq anno comments: Cys-rich subdomain 1
up seq anno comments: Cys-rich subdomain 2
up seq anno comments: Cys-rich subdomain 3
up seq anno comments: Cys-rich subdomain 4
up seq anno comments: Cys-rich subdomain 5
up seq anno comments: Cys-rich subdomain 6
up seq anno comments: Cys-rich subdomain 7
up seq anno comments: Disordered
up seq anno comments: HAT 1
up seq anno comments: HAT 2
up seq anno comments: HAT 3
up seq anno comments: Mucin-5B
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: Poorly secreted.
up seq anno comments: TIL 1
up seq anno comments: TIL 2
up seq anno comments: TIL 3
up seq anno comments: VWFC 1
up seq anno comments: VWFC 2
up seq anno comments: VWFC 3
up seq anno comments: VWFD 1
up seq anno comments: VWFD 2
up seq anno comments: VWFD 3
up seq anno comments: VWFD 4
up seq anno feature ids: PRO_0000019283
up seq anno feature ids: VAR_014123
up seq anno feature ids: VAR_056588
up seq anno feature ids: VAR_059538
up seq anno feature ids: VAR_059539
up seq anno feature ids: VAR_059540
up seq anno feature ids: VAR_059541
up seq anno feature ids: VAR_063616
up seq anno feature ids: VAR_063617
up seq anno feature ids: VAR_063618
up seq anno feature ids: VAR_063619
up seq anno feature ids: VAR_063620
up seq anno feature ids: VAR_063621
up seq anno feature ids: VAR_063622
up seq anno feature ids: VAR_063623
up seq anno feature ids: VAR_063624
up seq anno feature ids: VAR_063625
up seq anno feature ids: VAR_063626

9606:UGP2
gene id: 9606:UGP2
uniprot id: A0A140VKE1
uniprot id: Q16851
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes oligomerization and significantly increases enzymatic activity.
up seq anno comments: Critical for end-to-end subunit interaction
up seq anno comments: In DEE83; the nucleotide substitution also alters the translation of other alternatively spliced products of the gene globally reducing functional enzyme levels and causing reduced synthesis of UDP-glucose and decreased glycogen biosynthetic process; no effect on protein localization; no effect on UTP:glucose-1-phosphate uridylyltransferase activity.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of activity; possibly due to folding defect.
up seq anno comments: N-acetylserine
up seq anno comments: N6-acetyllysine
up seq anno comments: No significant loss of activity.
up seq anno comments: Oligomerization
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno comments: UTP--glucose-1-phosphate uridylyltransferase
up seq anno feature ids: PRO_0000185752
up seq anno feature ids: VAR_033042
up seq anno feature ids: VAR_083746
up seq anno feature ids: VSP_012834

9606:CREG2
gene id: 9606:CREG2
uniprot id: Q8IUH2
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Abolishes N-glycosylation.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Protein CREG2
up seq anno feature ids: PRO_0000006206
up seq anno feature ids: VAR_021252

9606:RNF11
gene id: 9606:RNF11
uniprot id: Q9Y3C5
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Initiator Methionine
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: Change in subcellular location: Becomes partially cytosolic and retained in association with the Golgi apparatus. Partial reduction of ubiquitination.
up seq anno comments: Disordered
up seq anno comments: Loss of GGA1-binding.
up seq anno comments: Loss of ITCH-, SMURF2- and WWP1-binding. Partial loss of ubiquitination by ITCH. No effect on STAMBP-binding; when associated with S-99 and S-102. Persistent TNF-mediated NFKBIA phosphorylation. Loss of stimulus-dependent complex formation with TAX1BP1, TNFAIP3 and RIPK1.
up seq anno comments: Loss of UBE2N-binding. No gain of UBE2L3-binding.
up seq anno comments: Loss of myristoylation. Change in subcellular location: Becomes diffused throughout the cytosol. Strong reduction of ubiquitination. Reduced efficiency of ITCH-binding.
up seq anno comments: Loss of phosphorylation and of 14-3-3-binding.
up seq anno comments: N-myristoyl glycine
up seq anno comments: No effect on STAMBP- and SMURF2-binding; when associated with S-102. Persistent TNF-mediated NFKBIA phosphorylation. No effect on STAMBP-binding; when associated with A-40 and S-102. No effect on ubiquitination by ITCH; when associated with S-102. Loss of stimulus-dependent complex formation with TAX1BP1, TNFAIP3 and RIPK1.
up seq anno comments: No effect on STAMBP- and SMURF2-binding; when associated with S-99. No effect on ubiquitination by ITCH; when associated with S-102. No effect on STAMBP-binding; when associated with A-40 and S-99.
up seq anno comments: No effect on UBE2N-binding. Gain of UBE2L3-binding.
up seq anno comments: No effect on UBE2N-binding. No gain of UBE2L3-binding.
up seq anno comments: No effect on UBE2N-binding. No gain of UBE2L3-binding; when associated with L-127 and L-128.
up seq anno comments: No effect on UBE2N-binding. No gain of UBE2L3-binding; when associated with L-128.
up seq anno comments: PPxY motif
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine; by PKB/AKT1
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: RING finger protein 11
up seq anno comments: RING-type
up seq anno comments: Removed
up seq anno comments: S-palmitoyl cysteine
up seq anno feature ids: PRO_0000056050
up seq anno feature ids: VAR_058272

9606:GRHL2
gene id: 9606:GRHL2
uniprot id: B4DL28
uniprot id: Q6ISB3
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Grainyhead-like protein 2 homolog
up seq anno comments: Grh/CP2 DB
up seq anno comments: Important for activation of transcription
up seq anno comments: In ECTDS.
up seq anno comments: In ECTDS; reduced expression; altered cell morphology; impaired tight junctions; adhesion defects; cytoplasmic translocation.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of activity as transcriptional activator.
up seq anno comments: Polar residues
up seq anno comments: Transcription activation
up seq anno feature ids: PRO_0000227994
up seq anno feature ids: VAR_049293
up seq anno feature ids: VAR_071989
up seq anno feature ids: VAR_071990
up seq anno feature ids: VSP_017642

9606:RETREG1
gene id: 9606:RETREG1
uniprot id: A0A804HHX5
uniprot id: Q9H6L5
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Abolishes interaction with ATG8 family proteins and reduces endoplasmic reticulum branching.
up seq anno comments: Abolishes interaction with ATG8 family proteins.
up seq anno comments: Abolishes phosphorylation and reduces self-association.
up seq anno comments: Acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Found in a patient with HSAN2B; uncertain pathological significance; dramatically enhances homooligomerization which results in aberrant endoplasmic reticulum scission and excessive reticulophagy; induces sensory neuron death in vitro.
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: LIR motif
up seq anno comments: Lumenal
up seq anno comments: Mildly weakened binding to GABARAP.
up seq anno comments: Phosphomimetic mutant which enhances self-association. Enhanced membrane scission activity; when associated with D-149 and D-151.
up seq anno comments: Phosphomimetic mutant which enhances self-association. Enhanced membrane scission activity; when associated with D-149 and D-153.
up seq anno comments: Phosphomimetic mutant which enhances self-association. Enhanced membrane scission activity; when associated with D-151 and D-153.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CAMK2B
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Reduces self-association.
up seq anno comments: Reticulon homology domain
up seq anno comments: Reticulophagy regulator 1
up seq anno comments: Severely impaired binding to GABARAP.
up seq anno feature ids: PRO_0000288466
up seq anno feature ids: VAR_032422
up seq anno feature ids: VAR_068477
up seq anno feature ids: VSP_025685
up seq anno feature ids: VSP_025686

9606:NUMA1
gene id: 9606:NUMA1
uniprot id: Q14980
uniprot id: Q3SYK8
uniprot id: Q4LE64
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 4.1-binding domain
up seq anno comments: Abolishes association with the mitotic spindle.
up seq anno comments: Abolishes association with the mitotic spindle. Increases premature accumulation at the cell cortex during metaphase; when associated with A-2015 and A-2055.
up seq anno comments: Abolishes association with the mitotic spindle. Increases premature accumulation at the cell cortex during metaphase; when associated with A-2055 and A-2087.
up seq anno comments: Abolishes interaction with GPSM2.
up seq anno comments: Abolishes nuclear localization.
up seq anno comments: Absence of cell membrane association even in anaphase. Increased localization at spindle poles and chromosome congression defects. Does not localize to the cortex in either metaphase or anaphase. Increased randomization of spindle orientation.
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: GPSM2-binding domain
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: Head (Globular)
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: Increases localization at the spindle poles. Decreases localization at the cell cortex.
up seq anno comments: Increases premature accumulation at the cell membrane of the polar cortical region in prophase and metaphase. Reduces association with the mitotic spindle. Increased randomization of spindle orientation. Increases premature accumulation at the cell cortex during metaphase; when associated with A-2015 and A-2087.
up seq anno comments: Membrane-binding domain 1
up seq anno comments: Membrane-binding domain 2
up seq anno comments: N6-acetyllysine
up seq anno comments: No effect on nuclear localization.
up seq anno comments: Nuclear localization signal
up seq anno comments: Nuclear mitotic apparatus protein 1
up seq anno comments: O-linked (GlcNAc) serine; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; alternate
up seq anno comments: Phosphoserine; by CDK1
up seq anno comments: Phosphoserine; by PLK1
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by CDK1
up seq anno comments: Phosphothreonine; by PLK1
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: Tail (Globular)
up seq anno comments: Tankyrase-binding domain
up seq anno comments: Tubulin-binding domain

9606:NUP37
gene id: 9606:NUP37
uniprot id: Q8NFH4
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno comments: In MCPH24; reduced mutant protein levels; impairs assembly of nuclear pore complex as indicated by lower number of nuclear pores in patient fibroblasts.
up seq anno comments: Nucleoporin Nup37
up seq anno comments: WD 1
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno comments: WD 7
up seq anno feature ids: PRO_0000051109
up seq anno feature ids: VAR_081367

9606:PPP4R1
gene id: 9606:PPP4R1
uniprot id: Q8TF05
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: HEAT 1
up seq anno comments: HEAT 10
up seq anno comments: HEAT 11
up seq anno comments: HEAT 12
up seq anno comments: HEAT 13
up seq anno comments: HEAT 14
up seq anno comments: HEAT 2
up seq anno comments: HEAT 3
up seq anno comments: HEAT 4
up seq anno comments: HEAT 5
up seq anno comments: HEAT 6
up seq anno comments: HEAT 7
up seq anno comments: HEAT 8
up seq anno comments: HEAT 9
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Serine/threonine-protein phosphatase 4 regulatory subunit 1
up seq anno feature ids: PRO_0000071527
up seq anno feature ids: VAR_017807
up seq anno feature ids: VAR_017808
up seq anno feature ids: VAR_017809
up seq anno feature ids: VAR_051748
up seq anno feature ids: VSP_009469

9606:TMEM202
gene id: 9606:TMEM202
uniprot id: A0A3B3ITB0
uniprot id: A6NGA9
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: Transmembrane protein 202
up seq anno feature ids: PRO_0000317201
up seq anno feature ids: VAR_051434

9606:USP32
gene id: 9606:USP32
uniprot id: Q8NFA0
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Cysteine methyl ester
up seq anno comments: DUSP
up seq anno comments: Disordered
up seq anno comments: EF-hand 1
up seq anno comments: EF-hand 2
up seq anno comments: EF-hand 3
up seq anno comments: In isoform 2.
up seq anno comments: Nucleophile
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: Proton acceptor
up seq anno comments: Removed in mature form
up seq anno comments: S-farnesyl cysteine
up seq anno comments: USP
up seq anno comments: Ubiquitin carboxyl-terminal hydrolase 32
up seq anno feature ids: PRO_0000080663
up seq anno feature ids: PRO_0000396658
up seq anno feature ids: VAR_051536
up seq anno feature ids: VAR_051537
up seq anno feature ids: VAR_051538
up seq anno feature ids: VAR_051539
up seq anno feature ids: VSP_056307
up seq anno feature ids: VSP_056308

9606:CRADD
gene id: 9606:CRADD
uniprot id: B4DJT6
uniprot id: F5H7C2
uniprot id: F8VV49
uniprot id: F8VVY5
uniprot id: P78560
uniprot id: Q53XL1
uniprot id: Q8IY43
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: CARD
up seq anno comments: Death
up seq anno comments: Death domain-containing protein CRADD
up seq anno comments: Disordered
up seq anno comments: In MRT34.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of interaction with CASP2.
up seq anno comments: Loss of interaction with PIDD1.
up seq anno comments: Loss of interaction with PIDD1. Decreased PIDDosome assembly. Decreased CASP2 activation.
up seq anno comments: Loss of interaction with PIDD1. Loss of PIDDosome assembly. Loss of CASP2 activation.
up seq anno comments: No effect on interaction with PIDD1.
up seq anno comments: Partial loss of interaction with PIDD1.
up seq anno comments: Partial loss of interaction with PIDD1. Decreased PIDDosome assembly. Decreased CASP2 activation.
up seq anno feature ids: PRO_0000079326
up seq anno feature ids: VAR_067536
up seq anno feature ids: VSP_056892

9606:ARSB
gene id: 9606:ARSB
uniprot id: A8K4A0
uniprot id: P15848
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 3-oxoalanine (Cys)
up seq anno comments: Arylsulfatase B
up seq anno comments: In MPS6.
up seq anno comments: In MPS6; intermediate form.
up seq anno comments: In MPS6; intermediate form; severe reduction of activity.
up seq anno comments: In MPS6; mild form.
up seq anno comments: In MPS6; mild form; severe reduction of activity.
up seq anno comments: In MPS6; mild/intermediate.
up seq anno comments: In MPS6; mild/severe form.
up seq anno comments: In MPS6; severe form.
up seq anno comments: In MPS6; severe form; loss of activity.
up seq anno comments: In MPS6; severe form; low protein levels and activity.
up seq anno comments: In MPS6; severe form; severe reduction of activity.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Nucleophile
up seq anno comments: Or 38
up seq anno comments: Sulfatase N-terminal
up seq anno comments: via 3-oxoalanine
up seq anno feature ids: PRO_0000033421
up seq anno feature ids: PRO_5002722144
up seq anno feature ids: VAR_007294
up seq anno feature ids: VAR_007295
up seq anno feature ids: VAR_007296
up seq anno feature ids: VAR_007297
up seq anno feature ids: VAR_007298
up seq anno feature ids: VAR_007299
up seq anno feature ids: VAR_007300
up seq anno feature ids: VAR_007301
up seq anno feature ids: VAR_007302
up seq anno feature ids: VAR_007303
up seq anno feature ids: VAR_007304
up seq anno feature ids: VAR_007305
up seq anno feature ids: VAR_007306
up seq anno feature ids: VAR_016061
up seq anno feature ids: VAR_019017
up seq anno feature ids: VAR_019018
up seq anno feature ids: VAR_019019
up seq anno feature ids: VAR_019020
up seq anno feature ids: VAR_019021
up seq anno feature ids: VAR_019022
up seq anno feature ids: VAR_019023

9606:KIAA1191
gene id: 9606:KIAA1191
uniprot id: A0A087WT18
uniprot id: Q96A73
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Flavin-containing monooxygenase motif
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Putative monooxygenase p33MONOX
up seq anno feature ids: PRO_0000307730
up seq anno feature ids: VSP_028800
up seq anno feature ids: VSP_028801

9606:CDC25A
gene id: 9606:CDC25A
uniprot id: P30304
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes phosphatase activity.
up seq anno comments: Abolishes ubiquitination and impairs CHEK1-dependent degradation following checkpoint activation.
up seq anno comments: Abrogates 14-3-3 protein binding; increases binding to cyclin B1.
up seq anno comments: Abrogates binding to CCNB1; when associated with L-514.
up seq anno comments: Abrogates binding to CCNB1; when associated with L-520.
up seq anno comments: Abrogates interactions with BTRC and FBXW11 and prevents ubiquitination.
up seq anno comments: Abrogates phosphorylation by CHEK2 and infrared-induced degradation. Increases basal stability and impairs CHEK1-dependent degradation following checkpoint activation; when associated with A-178; A-279 and A-293.
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Increased stability following IR treatment.
up seq anno comments: Increases basal stability and impairs CHEK1-dependent degradation following checkpoint activation; when associated with A-124; A-178 and A-279.
up seq anno comments: Increases basal stability and impairs CHEK1-dependent degradation following checkpoint activation; when associated with A-124; A-178 and A-293.
up seq anno comments: Increases basal stability and impairs CHEK1-dependent degradation following checkpoint activation; when associated with A-124; A-279 and A-293. Abrogates 14-3-3 protein binding.
up seq anno comments: KEN box
up seq anno comments: M-phase inducer phosphatase 1
up seq anno comments: Mimicks phosphorylation state, leading to promote degradation following IR treatment.
up seq anno comments: Phosphodegron
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CHEK1
up seq anno comments: Phosphoserine; by CHEK1 and CHEK2
up seq anno comments: Phosphoserine; by NEK11
up seq anno comments: Phosphoserine; by PLK3
up seq anno comments: Phosphothreonine; by CHEK1
up seq anno comments: Prevents ubiquitination and subsequent degradation by the APC/C ubiquitin ligase complex.
up seq anno comments: Rhodanese
up seq anno feature ids: PRO_0000198641
up seq anno feature ids: VAR_020932
up seq anno feature ids: VAR_023532
up seq anno feature ids: VAR_023533
up seq anno feature ids: VSP_000860

9606:METTL5
gene id: 9606:METTL5
uniprot id: Q9NRN9
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: In METTL5-3A; abolished methyltransferase activity.
up seq anno comments: Unknown pathological significance; found in patients with intellectual disability and microcephaly; impaired interaction with TRMT112.
up seq anno comments: rRNA N6-adenosine-methyltransferase METTL5
up seq anno feature ids: PRO_0000251919
up seq anno feature ids: VAR_051507
up seq anno feature ids: VAR_086154

9606:MRPL53
gene id: 9606:MRPL53
uniprot id: Q96EL3
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: Large ribosomal subunit protein mL53
up seq anno comments: Mitochondrion
up seq anno feature ids: PRO_0000261664
up seq anno feature ids: VAR_029475

9606:TARS3
gene id: 9606:TARS3
uniprot id: A2RTX5
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylalanine
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno comments: TGS
up seq anno comments: Threonine--tRNA ligase 2, cytoplasmic
up seq anno feature ids: PRO_0000333828
up seq anno feature ids: VSP_033562

9606:UBE2U
gene id: 9606:UBE2U
uniprot id: A0A140VJY9
uniprot id: Q5VVX9
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: Glycyl thioester intermediate
up seq anno comments: In isoform 2.
up seq anno comments: UBC core
up seq anno comments: Ubiquitin-conjugating enzyme E2 U
up seq anno feature ids: PRO_0000082512
up seq anno feature ids: VAR_057323
up seq anno feature ids: VSP_016003

9606:FN3K
gene id: 9606:FN3K
uniprot id: Q9H479
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Site
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno comments: Fructosamine-3-kinase
up seq anno comments: N-acetylmethionine
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000216337

9606:SLC14A1
gene id: 9606:SLC14A1
uniprot id: B4DFJ8
uniprot id: B4DHU3
uniprot id: F5GWS2
uniprot id: G0W2N5
uniprot id: Q13336
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Helical
up seq anno comments: Important for channel permeability
up seq anno comments: In Jk(b).
up seq anno comments: In Jk(null).
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Urea transporter 1
up seq anno feature ids: PRO_0000065737
up seq anno feature ids: VAR_005669
up seq anno feature ids: VAR_013752
up seq anno feature ids: VAR_022319
up seq anno feature ids: VAR_051483
up seq anno feature ids: VAR_051484
up seq anno feature ids: VAR_065466
up seq anno feature ids: VAR_065467
up seq anno feature ids: VAR_065468
up seq anno feature ids: VSP_041573

9606:PDCD7
gene id: 9606:PDCD7
uniprot id: Q6IEG3
uniprot id: Q8N8D1
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno comments: Disordered
up seq anno comments: Pro residues
up seq anno comments: Programmed cell death protein 7
up seq anno feature ids: PRO_0000058269

9606:LYNX1
gene id: 9606:LYNX1
uniprot id: P0DP58
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Lipid Binding
up seq anno labels: Propeptide
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: GPI-anchor amidated cysteine
up seq anno comments: In isoform 2.
up seq anno comments: Ly-6/neurotoxin-like protein 1
up seq anno comments: Removed in mature form
up seq anno comments: UPAR/Ly6
up seq anno feature ids: PRO_0000036154
up seq anno feature ids: PRO_0000440641
up seq anno feature ids: VSP_058978

9606:RNF181
gene id: 9606:RNF181
uniprot id: Q9P0P0
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: E3 ubiquitin-protein ligase RNF181
up seq anno comments: Phosphothreonine
up seq anno comments: RING-type; atypical
up seq anno feature ids: PRO_0000295174
up seq anno feature ids: VAR_033323

9606:RBMXL1
gene id: 9606:RBMXL1
uniprot id: Q96E39
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: RNA binding motif protein, X-linked-like-1
up seq anno comments: RRM
up seq anno feature ids: PRO_0000408005

9606:NUDT22
gene id: 9606:NUDT22
uniprot id: Q9BRQ3
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes enzyme activity with UDP-galactose.
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Nudix box
up seq anno comments: Nudix hydrolase
up seq anno comments: Uridine diphosphate glucose pyrophosphatase NUDT22
up seq anno feature ids: PRO_0000263731
up seq anno feature ids: VAR_029616
up seq anno feature ids: VAR_029617
up seq anno feature ids: VAR_029618
up seq anno feature ids: VAR_050414
up seq anno feature ids: VSP_021884
up seq anno feature ids: VSP_053790

9606:ANKRA2
gene id: 9606:ANKRA2
uniprot id: Q9H9E1
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Repeat
up seq anno comments: ANK 1
up seq anno comments: ANK 2
up seq anno comments: ANK 3
up seq anno comments: ANK 4
up seq anno comments: ANK 5
up seq anno comments: Ankyrin repeat family A protein 2
up seq anno comments: Decreased affinity for HDAC4.
up seq anno comments: Loss of interaction with CCDC8. Decreased affinity for HDAC4.
up seq anno comments: No effect on interaction with CCDC8.
up seq anno feature ids: PRO_0000066895

9606:DDX20
gene id: 9606:DDX20
uniprot id: Q9H4N4
uniprot id: Q9UHI6
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: DEAD box
up seq anno comments: Disordered
up seq anno comments: Helicase ATP-binding
up seq anno comments: Helicase C-terminal
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Probable ATP-dependent RNA helicase DDX20
up seq anno comments: Q motif
up seq anno comments: SMN interacting
up seq anno feature ids: PRO_0000055025
up seq anno feature ids: VAR_057231
up seq anno feature ids: VAR_057232
up seq anno feature ids: VAR_057233
up seq anno feature ids: VSP_056505
up seq anno feature ids: VSP_056506

9606:MMP25
gene id: 9606:MMP25
uniprot id: Q9NPA2
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Lipid Binding
up seq anno labels: Motif
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno comments: Cysteine switch
up seq anno comments: Disordered
up seq anno comments: GPI-anchor amidated alanine
up seq anno comments: Hemopexin 1
up seq anno comments: Hemopexin 2
up seq anno comments: Hemopexin 3
up seq anno comments: Hemopexin 4
up seq anno comments: Matrix metalloproteinase-25
up seq anno comments: Pro residues
up seq anno comments: Removed in mature form
up seq anno comments: in inhibited form
up seq anno feature ids: PRO_0000028852
up seq anno feature ids: PRO_0000028853
up seq anno feature ids: PRO_0000028854

9606:BTLA
gene id: 9606:BTLA
uniprot id: Q7Z6A9
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: B- and T-lymphocyte attenuator
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Ig-like V-type
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No change of phosphorylation implicated in interaction with PTPN6 and PTPN11. Severe reduction of phosphorylation; when associated with F-226 and/or F-257.
up seq anno comments: No change of phosphorylation implicated in interaction with PTPN6 and PTPN11. Severe reduction of phosphorylation; when associated with F-226 and/or F-282.
up seq anno comments: No change of phosphorylation implicated in interaction with PTPN6 and PTPN11. Severe reduction of phosphorylation; when associated with F-257 and/or F-282.
up seq anno feature ids: PRO_0000014523
up seq anno feature ids: VAR_027607
up seq anno feature ids: VAR_027608
up seq anno feature ids: VAR_056027
up seq anno feature ids: VSP_040305

9606:GSX2
gene id: 9606:GSX2
uniprot id: B2LYG3
uniprot id: Q9BZM3
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Basic residues
up seq anno comments: Disordered
up seq anno comments: GS homeobox 2
up seq anno comments: Homeobox
up seq anno comments: In DMJDS2; decreased protein abundance; decreased nuclear localization; increased localization to the cytoplasm; changed regulation of gene expression.
up seq anno comments: In DMJDS2; loss of protein expression.
up seq anno feature ids: PRO_0000048896
up seq anno feature ids: VAR_049580
up seq anno feature ids: VAR_083532
up seq anno feature ids: VAR_083533

9606:SRC
gene id: 9606:SRC
uniprot id: P12931
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: In THC6; increased protein tyrosine kinase activity; increased autophosphorylation at Y-419; causes defective megakaryopoiesis associated with increased overall tyrosine phosphorylation in megakaryocytes.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Kinase active. Interacts with PDLIM4; when associated with E-302 and F-419.
up seq anno comments: Kinase active. Interacts with PDLIM4; when associated with E-307 and F-419.
up seq anno comments: Kinase inactive. Abolishes ubiquitination promoted by CBLC.
up seq anno comments: Loss of kinase activity. Loss of interaction with PDLIM4.
up seq anno comments: N-myristoyl glycine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CDK5
up seq anno comments: Phosphotyrosine
up seq anno comments: Phosphotyrosine; by CSK
up seq anno comments: Phosphotyrosine; by FAK2
up seq anno comments: Phosphotyrosine; by autocatalysis
up seq anno comments: Protein kinase
up seq anno comments: Proto-oncogene tyrosine-protein kinase Src
up seq anno comments: Proton acceptor
up seq anno comments: Removed
up seq anno comments: SH2
up seq anno comments: SH3
up seq anno feature ids: PRO_0000088141
up seq anno feature ids: VAR_041830
up seq anno feature ids: VAR_051699
up seq anno feature ids: VAR_076919
up seq anno feature ids: VSP_012134
up seq anno feature ids: VSP_061494

9606:AP1S1
gene id: 9606:AP1S1
uniprot id: P61966
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: AP-1 complex subunit sigma-1A
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000193797
up seq anno feature ids: VSP_000171

9606:ISY1
gene id: 9606:ISY1
uniprot id: Q9ULR0
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 1.
up seq anno comments: In isoform 2.
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Pre-mRNA-splicing factor ISY1 homolog
up seq anno feature ids: PRO_0000235813
up seq anno feature ids: VSP_039410
up seq anno feature ids: VSP_039411

9606:BCL10
gene id: 9606:BCL10
uniprot id: A0A087WWW9
uniprot id: A2TDT2
uniprot id: O95999
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolished homomultimerization and formation of a CBM complex, abolished ability to activate NF-kappa-B.
up seq anno comments: Abolished homomultimerization and formation of a CBM complex.
up seq anno comments: Abolishes MALT1-mediated cleavage.
up seq anno comments: Abolishes NF-kappa-B activation and homo/heterodimerization.
up seq anno comments: Abolishes NF-kappa-B activation.
up seq anno comments: Abolishes cell death-inducing capability.
up seq anno comments: B-cell lymphoma/leukemia 10
up seq anno comments: CARD
up seq anno comments: Cleavage; by MALT1
up seq anno comments: Complete loss of IKBKB/IKKB-mediated phosphorylation.
up seq anno comments: Decreased linear ubiquitination and impaired ability to activate NF-kappa-B; when associated with R-31 and R-63.
up seq anno comments: Decreased ubiquitination and ability to bind NEMO, impaired ability to activate NF-kappa-B; when associated with R-31. Decreased linear ubiquitination and impaired ability to activate NF-kappa-B; when associated with R-17 and R-31.
up seq anno comments: Decreased ubiquitination and ability to bind NEMO; when associated with 63-R--R-67. Decreased ubiquitination and ability to bind NEMO, impaired ability to activate NF-kappa-B; when associated with R-63. Decreased linear ubiquitination and impaired ability to activate NF-kappa-B; when associated with R-17 and R-63.
up seq anno comments: Decreased ubiquitination and ability to bind NEMO; when associated with R-31.
up seq anno comments: Disordered
up seq anno comments: Does not affect ubiquitination and ability to bind NEMO.
up seq anno comments: Found in a MALT lymphoma sample; unknown pathological significance.
up seq anno comments: Found in a follicular lymphoma sample; unknown pathological significance.
up seq anno comments: Found in a germ cell tumor and other cancer cell lines; unknown pathological significance.
up seq anno comments: Found in a germ cell tumor sample; unknown pathological significance.
up seq anno comments: Found in a mesothelioma sample; unknown pathological significance.
up seq anno comments: Found in a testicular teratoma sample; somatic mutation.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Promotes NF-kappa-B activation.
up seq anno feature ids: PRO_0000144074
up seq anno feature ids: VAR_013208
up seq anno feature ids: VAR_013209
up seq anno feature ids: VAR_013210
up seq anno feature ids: VAR_013211
up seq anno feature ids: VAR_013212
up seq anno feature ids: VAR_013213
up seq anno feature ids: VAR_013214
up seq anno feature ids: VAR_013215
up seq anno feature ids: VAR_013216
up seq anno feature ids: VAR_013217
up seq anno feature ids: VAR_013218
up seq anno feature ids: VAR_013219
up seq anno feature ids: VAR_013220
up seq anno feature ids: VAR_013221
up seq anno feature ids: VAR_013222
up seq anno feature ids: VAR_013223
up seq anno feature ids: VAR_013224
up seq anno feature ids: VAR_013225
up seq anno feature ids: VAR_013226

9606:KCNJ9
gene id: 9606:KCNJ9
uniprot id: Q92806
up seq anno parent labels: Chain
up seq anno parent labels: INTRAMEM
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: INTRAMEM
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: G protein-activated inward rectifier potassium channel 3
up seq anno comments: Helical; Name=M1
up seq anno comments: Helical; Name=M2
up seq anno comments: Helical; Pore-forming; Name=H5
up seq anno comments: PDZ-binding
up seq anno comments: Pore-forming
up seq anno comments: Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesium
up seq anno comments: Selectivity filter
up seq anno feature ids: PRO_0000154950
up seq anno feature ids: VAR_023568

9606:FOXE3
gene id: 9606:FOXE3
uniprot id: A0A0A1EII5
uniprot id: Q13461
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: Fork-head
up seq anno comments: Forkhead box protein E3
up seq anno comments: In AAT11.
up seq anno comments: In ASGD2; complete loss of DNA binding; significant reduction of sequence-specific DNA binding transcription factor activity.
up seq anno comments: In ASGD2; significant reduction of sequence-specific DNA binding transcription factor activity.
up seq anno comments: In ASGD2; unknown pathological significance.
up seq anno comments: In CTRCT34; decreases DNAJB1 expression.
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000091829
up seq anno feature ids: VAR_026234
up seq anno feature ids: VAR_026235
up seq anno feature ids: VAR_062582
up seq anno feature ids: VAR_062583
up seq anno feature ids: VAR_062584
up seq anno feature ids: VAR_072783
up seq anno feature ids: VAR_078112
up seq anno feature ids: VAR_078113
up seq anno feature ids: VAR_078114
up seq anno feature ids: VAR_078115

9606:EYA3
gene id: 9606:EYA3
uniprot id: Q99504
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Eyes absent homolog 3
up seq anno comments: Fails to form damage-dependent nuclear foci or interact with H2AX.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3 and isoform 5.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Loss of tyrosine phosphatase activity toward H2AX.
up seq anno comments: N-acetylmethionine
up seq anno comments: Nucleophile
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Proton donor
up seq anno feature ids: PRO_0000218648
up seq anno feature ids: VSP_001493
up seq anno feature ids: VSP_054518
up seq anno feature ids: VSP_054519
up seq anno feature ids: VSP_054530

9606:KCTD8
gene id: 9606:KCTD8
uniprot id: Q6ZWB6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno comments: BTB
up seq anno comments: BTB/POZ domain-containing protein KCTD8
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000251481
up seq anno feature ids: VAR_027692

9606:ANAPC2
gene id: 9606:ANAPC2
uniprot id: Q9UJX6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Acidic residues
up seq anno comments: Anaphase-promoting complex subunit 2
up seq anno comments: Cullin homology
up seq anno comments: Disordered
up seq anno comments: Impairs UBE2S-mediated polyubiquitination, decreasing substrate affinity, does not affect UBE2C-mediated multiubiquitination; when associated with K-350.
up seq anno comments: Impairs UBE2S-mediated polyubiquitination, decreasing substrate affinity, does not affect UBE2C-mediated multiubiquitination; when associated with K-353.
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno feature ids: PRO_0000119811
up seq anno feature ids: VSP_008463

9606:CHD4
gene id: 9606:CHD4
uniprot id: F5GWX5
uniprot id: Q14839
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Chromo
up seq anno comments: Chromo 1
up seq anno comments: Chromo 2
up seq anno comments: Chromodomain-helicase-DNA-binding protein 4
up seq anno comments: DEAH box
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: Helicase ATP-binding
up seq anno comments: Helicase C-terminal
up seq anno comments: In SIHIWES.
up seq anno comments: In SIHIWES; no effect on interaction with HDAC1; no effect on nuclear localization.
up seq anno comments: In SIHIWES; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: PHD-type
up seq anno comments: PHD-type 1
up seq anno comments: PHD-type 2
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Required for interaction with PCNT
up seq anno feature ids: PRO_0000080228
up seq anno feature ids: VAR_031674
up seq anno feature ids: VAR_031675
up seq anno feature ids: VAR_031676
up seq anno feature ids: VAR_077146
up seq anno feature ids: VAR_077147
up seq anno feature ids: VAR_077148
up seq anno feature ids: VAR_077149
up seq anno feature ids: VAR_077150
up seq anno feature ids: VAR_077151
up seq anno feature ids: VAR_077152
up seq anno feature ids: VSP_011416

9606:HAPSTR2
gene id: 9606:HAPSTR2
uniprot id: A0A7P0TBJ1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno comments: Disordered
up seq anno comments: HUWE1-associated protein modifying stress responses 2
up seq anno comments: Loss of homodimerization. Loss of heterodimerization with HAPSTR1. No effect on interaction with HUWE1.
up seq anno comments: Nuclear localization signal
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000457925

9606:ROR2
gene id: 9606:ROR2
uniprot id: Q01974
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Acidic residues
up seq anno comments: Asymmetric dimethylarginine
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: FZ
up seq anno comments: Helical
up seq anno comments: Ig-like C2-type
up seq anno comments: In RRS1.
up seq anno comments: In a colorectal adenocarcinoma sample; somatic mutation.
up seq anno comments: Kringle
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphotyrosine; by autocatalysis
up seq anno comments: Polar residues
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Slight increase in kinase activity.
up seq anno comments: Sulfoserine; partial
up seq anno comments: Tyrosine-protein kinase transmembrane receptor ROR2
up seq anno feature ids: PRO_0000024460
up seq anno feature ids: VAR_010768
up seq anno feature ids: VAR_010769
up seq anno feature ids: VAR_010770
up seq anno feature ids: VAR_010771
up seq anno feature ids: VAR_010911
up seq anno feature ids: VAR_010912
up seq anno feature ids: VAR_010913
up seq anno feature ids: VAR_041787
up seq anno feature ids: VAR_041788
up seq anno feature ids: VAR_041789
up seq anno feature ids: VAR_041790
up seq anno feature ids: VAR_041791
up seq anno feature ids: VAR_041792
up seq anno feature ids: VAR_041793
up seq anno feature ids: VAR_041794
up seq anno feature ids: VAR_041795
up seq anno feature ids: VAR_041796
up seq anno feature ids: VAR_041797

9606:OR4C12
gene id: 9606:OR4C12
uniprot id: Q96R67
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 4C12
up seq anno feature ids: PRO_0000150533
up seq anno feature ids: VAR_034192

9606:VWA5B2
gene id: 9606:VWA5B2
uniprot id: B4DF13
uniprot id: E9PF42
uniprot id: Q8N398
uniprot id: Q9BVH8
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: Polar residues
up seq anno comments: VIT
up seq anno comments: VWFA
up seq anno comments: von Willebrand factor A domain-containing protein 5B2
up seq anno feature ids: PRO_0000339302
up seq anno feature ids: VAR_043939

9606:KRTAP10-12
gene id: 9606:KRTAP10-12
uniprot id: P60413
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno comments: 1
up seq anno comments: 10
up seq anno comments: 11
up seq anno comments: 12
up seq anno comments: 13
up seq anno comments: 14
up seq anno comments: 15
up seq anno comments: 16
up seq anno comments: 17
up seq anno comments: 18
up seq anno comments: 19
up seq anno comments: 19 X 5 AA repeats of C-C-X(3)
up seq anno comments: 2
up seq anno comments: 3
up seq anno comments: 4
up seq anno comments: 5
up seq anno comments: 6
up seq anno comments: 7
up seq anno comments: 8
up seq anno comments: 9
up seq anno comments: Keratin-associated protein 10-12
up seq anno feature ids: PRO_0000185220
up seq anno feature ids: VAR_053465
up seq anno feature ids: VAR_053466

9606:ABI2
gene id: 9606:ABI2
uniprot id: A0A0C4DG21
uniprot id: A0A7D9NKC8
uniprot id: B7Z836
uniprot id: Q9NYB9
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abl interactor 2
up seq anno comments: Acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 2, isoform 3 and isoform 4.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Probable disease-associated variant found in a consanguineous family with intellectual disability.
up seq anno comments: SH3
up seq anno comments: T-SNARE coiled-coil homology
up seq anno comments: t-SNARE coiled-coil homology
up seq anno feature ids: PRO_0000191790
up seq anno feature ids: VAR_080776
up seq anno feature ids: VSP_010759
up seq anno feature ids: VSP_010760
up seq anno feature ids: VSP_010761
up seq anno feature ids: VSP_010762
up seq anno feature ids: VSP_010763

9606:CSRP2
gene id: 9606:CSRP2
uniprot id: A0A024RBB5
uniprot id: Q16527
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno comments: Cysteine and glycine-rich protein 2
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: LIM zinc-binding
up seq anno comments: LIM zinc-binding 1
up seq anno comments: LIM zinc-binding 2
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: Nuclear localization signal
up seq anno feature ids: PRO_0000075721

9606:NRL
gene id: 9606:NRL
uniprot id: P54845
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic motif
up seq anno comments: Disordered
up seq anno comments: Found in a patient with atypical retinitis pigmentosa and a patient with cone dysfunction; unknown pathological significance; no effect on phosphorylation; no effect on subcellular localization.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
up seq anno comments: In RDCP; alters phosphorylation; no effect on subcellular localization; loss of transcriptional coactivator activity.
up seq anno comments: In RDCP; unknown pathological significance; alters phosphorylation; no effect on subcellular localization; no effect on transcriptional coactivator activity.
up seq anno comments: In RP27.
up seq anno comments: In RP27; autosomal dominant; decreases phosphorylation; no effect on subcellular localization; increased transcriptional coactivator activity.
up seq anno comments: In RP27; decreases phosphorylation; no effect on subcellular localization; increased transactivational activity; increased transcriptional coactivator activity.
up seq anno comments: In RP27; decreases phosphorylation; no effect on subcellular localization; increased transcriptional coactivator activity.
up seq anno comments: In RP27; increased transactivational activity.
up seq anno comments: In RP27; no effect on phosphorylation; no effect on subcellular localization; no effect on transcriptional coactivator activity.
up seq anno comments: In RP27; unknown pathological significance; alters phosphorylation; no effect on subcellular localization; no effect on transcriptional coactivator activity.
up seq anno comments: In isoform 2.
up seq anno comments: Leucine-zipper
up seq anno comments: Minimal transactivation domain (MTD)
up seq anno comments: Neural retina-specific leucine zipper protein
up seq anno comments: Polar residues
up seq anno comments: bZIP
up seq anno feature ids: PRO_0000076633
up seq anno feature ids: VAR_009268
up seq anno feature ids: VAR_064977
up seq anno feature ids: VAR_068364
up seq anno feature ids: VAR_079382
up seq anno feature ids: VAR_079383
up seq anno feature ids: VAR_079384
up seq anno feature ids: VAR_079385
up seq anno feature ids: VAR_079386
up seq anno feature ids: VAR_079387
up seq anno feature ids: VAR_079388
up seq anno feature ids: VAR_079389
up seq anno feature ids: VAR_079390
up seq anno feature ids: VAR_079391
up seq anno feature ids: VSP_055567

9606:CYB5A
gene id: 9606:CYB5A
uniprot id: A0A384ME44
uniprot id: P00167
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytochrome b5
up seq anno comments: Cytochrome b5 heme-binding
up seq anno comments: Helical
up seq anno comments: In METAG.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: Removed
up seq anno comments: axial binding residue
up seq anno feature ids: PRO_0000166010
up seq anno feature ids: VAR_080833
up seq anno feature ids: VAR_080834
up seq anno feature ids: VSP_001240
up seq anno feature ids: VSP_001241
up seq anno feature ids: VSP_045367

9606:OR2B6
gene id: 9606:OR2B6
uniprot id: P58173
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 2B6
up seq anno feature ids: PRO_0000150462
up seq anno feature ids: VAR_024090
up seq anno feature ids: VAR_053131

9606:NSUN4
gene id: 9606:NSUN4
uniprot id: A8K8I8
uniprot id: Q96CB9
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: 5-methylcytosine rRNA methyltransferase NSUN4
up seq anno comments: Disrupts complex with MTERFD2; when associated with A-136, R-139 and A-141.
up seq anno comments: Disrupts complex with MTERFD2; when associated with R-65, A-136 and R-139.
up seq anno comments: Disrupts complex with MTERFD2; when associated with R-65, A-136, and A-141.
up seq anno comments: Disrupts complex with MTERFD2; when associated with R-65, R-139 and A-141.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Mitochondrion
up seq anno comments: Nucleophile
up seq anno comments: Phosphoserine
up seq anno comments: SAM-dependent MTase RsmB/NOP-type
up seq anno feature ids: PRO_0000289234
up seq anno feature ids: VAR_032606
up seq anno feature ids: VAR_032607
up seq anno feature ids: VAR_032608
up seq anno feature ids: VAR_032609
up seq anno feature ids: VSP_025971
up seq anno feature ids: VSP_025972
up seq anno feature ids: VSP_025973
up seq anno feature ids: VSP_045053

9606:TSPAN10
gene id: 9606:TSPAN10
uniprot id: A0A087X235
uniprot id: F1T0E7
uniprot id: F1T0E8
uniprot id: Q6PJ65
uniprot id: Q9H1Z9
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Tetraspanin-10
up seq anno feature ids: PRO_0000219255
up seq anno feature ids: VAR_057277
up seq anno feature ids: VAR_061849

9606:ANKRD26
gene id: 9606:ANKRD26
uniprot id: E7ESJ3
uniprot id: Q9UPS8
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: ANK
up seq anno comments: ANK 1
up seq anno comments: ANK 2
up seq anno comments: ANK 3
up seq anno comments: ANK 4
up seq anno comments: ANK 5
up seq anno comments: Ankyrin repeat domain-containing protein 26
up seq anno comments: Basic and acidic residues
up seq anno comments: CCDC144C-like coiled-coil
up seq anno comments: DUF3496
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000240843
up seq anno feature ids: VAR_026833
up seq anno feature ids: VAR_026834
up seq anno feature ids: VAR_026835
up seq anno feature ids: VAR_055513
up seq anno feature ids: VAR_055514
up seq anno feature ids: VAR_080646
up seq anno feature ids: VSP_019434
up seq anno feature ids: VSP_019435

9606:PIH1D2
gene id: 9606:PIH1D2
uniprot id: Q8WWB5
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: PIH1 domain-containing protein 2
up seq anno feature ids: PRO_0000307334
up seq anno feature ids: VAR_035415
up seq anno feature ids: VSP_054022
up seq anno feature ids: VSP_054023
up seq anno feature ids: VSP_054024
up seq anno feature ids: VSP_054025

9606:MCM9
gene id: 9606:MCM9
uniprot id: A0A0S2Z662
uniprot id: Q9NXL9
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: DNA helicase MCM9
up seq anno comments: Disordered
up seq anno comments: In isoform 4.
up seq anno comments: In isoform M.
up seq anno comments: In isoform S.
up seq anno comments: Loss of helicase activity and DNA mismatch repair function but does not affect the interaction with MCM8, MSH2 or chromatin; when associated with A-358.
up seq anno comments: Loss of helicase activity and DNA mismatch repair function but does not affect the interaction with MCM8, MSH2 or chromatin; when associated with A-482.
up seq anno comments: MCM
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000089513
up seq anno feature ids: VSP_028013
up seq anno feature ids: VSP_028014
up seq anno feature ids: VSP_044180
up seq anno feature ids: VSP_044181
up seq anno feature ids: VSP_047462
up seq anno feature ids: VSP_047463

9606:SMU1
gene id: 9606:SMU1
uniprot id: A0MNN4
uniprot id: Q2TAY7
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: CTLH
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: LisH
up seq anno comments: N-acetylmethionine
up seq anno comments: N-acetylserine; in WD40 repeat-containing protein SMU1, N-terminally processed
up seq anno comments: Removed; alternate
up seq anno comments: Required for interaction with IK and with influenza A virus RNA polymerase
up seq anno comments: WD
up seq anno comments: WD 1
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno comments: WD 7
up seq anno comments: WD40 repeat-containing protein SMU1
up seq anno comments: WD40 repeat-containing protein SMU1, N-terminally processed
up seq anno feature ids: PRO_0000237590
up seq anno feature ids: PRO_0000424520
up seq anno feature ids: VSP_056394

9606:CCDC69
gene id: 9606:CCDC69
uniprot id: A6NI79
uniprot id: Q7L2X4
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Initiator Methionine
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Coiled-coil domain-containing protein 69
up seq anno comments: Disordered
up seq anno comments: N-myristoyl glycine
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000328962
up seq anno feature ids: VAR_042584

9606:CA9
gene id: 9606:CA9
uniprot id: A0A0S2Z3D0
uniprot id: Q16790
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Acidic residues
up seq anno comments: Alpha-carbonic anhydrase
up seq anno comments: Basic and acidic residues
up seq anno comments: Carbonic anhydrase
up seq anno comments: Carbonic anhydrase 9
up seq anno comments: Catalytic
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Interchain
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: O-linked (GlcNAc...) threonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Proteoglycan-like (PG)
up seq anno comments: Proton donor/acceptor
up seq anno feature ids: PRO_0000004243
up seq anno feature ids: PRO_5006608191
up seq anno feature ids: VAR_010787
up seq anno feature ids: VAR_020049

9606:PIWIL4
gene id: 9606:PIWIL4
uniprot id: A0A140VKG8
uniprot id: Q7Z3Z4
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: PAZ
up seq anno comments: Piwi
up seq anno comments: Piwi-like protein 4
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000234572
up seq anno feature ids: VAR_026291
up seq anno feature ids: VAR_028367
up seq anno feature ids: VAR_055533
up seq anno feature ids: VAR_061025
up seq anno feature ids: VSP_021031
up seq anno feature ids: VSP_021032
up seq anno feature ids: VSP_021033
up seq anno feature ids: VSP_036665

9606:GLI1
gene id: 9606:GLI1
uniprot id: B4DNF7
uniprot id: P08151
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: C2H2-type
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In PAPA8.
up seq anno comments: In PAPA8; decreased transcriptional activity; reduced expression of the GLI1 target PTCH1 observed in patient fibroblasts after chemical induction of the hedgehog pathway.
up seq anno comments: In PPD1; unknown pathological significance.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Interaction with DNA
up seq anno comments: Interaction with SUFU
up seq anno comments: N6-acetyllysine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: SNAG domain
up seq anno comments: Zinc finger protein GLI1
up seq anno feature ids: PRO_0000047197
up seq anno feature ids: VAR_015114
up seq anno feature ids: VAR_015115
up seq anno feature ids: VAR_015116
up seq anno feature ids: VAR_035557
up seq anno feature ids: VAR_035558
up seq anno feature ids: VAR_035559
up seq anno feature ids: VAR_052723
up seq anno feature ids: VAR_081480
up seq anno feature ids: VAR_081481
up seq anno feature ids: VAR_081482
up seq anno feature ids: VAR_082590
up seq anno feature ids: VSP_042215
up seq anno feature ids: VSP_054829

9606:RGS13
gene id: 9606:RGS13
uniprot id: O14921
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Variant
up seq anno comments: RGS
up seq anno comments: Regulator of G-protein signaling 13
up seq anno feature ids: PRO_0000204215
up seq anno feature ids: VAR_034453

9606:RGS9BP
gene id: 9606:RGS9BP
uniprot id: Q6ZS82
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Anchor for type IV membrane protein
up seq anno comments: Regulator of G-protein signaling 9-binding protein
up seq anno comments: SNARE-like
up seq anno feature ids: PRO_0000287586
up seq anno feature ids: VAR_032333

9606:SPDYE6
gene id: 9606:SPDYE6
uniprot id: P0CI01
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno comments: Disordered
up seq anno comments: Polar residues
up seq anno comments: Speedy protein E6
up seq anno feature ids: PRO_0000399478

9606:HOXB9
gene id: 9606:HOXB9
uniprot id: B3KPJ1
uniprot id: P17482
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Homeobox
up seq anno comments: Homeobox protein Hox-B9
up seq anno comments: Hox9 N-terminal activation
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000200155

9606:FECH
gene id: 9606:FECH
uniprot id: P22830
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: Decreased activity.
up seq anno comments: Ferrochelatase, mitochondrial
up seq anno comments: Greatly reduced activity.
up seq anno comments: In EPP1.
up seq anno comments: In EPP1; enzyme almost inactive.
up seq anno comments: In EPP1; enzyme retains 12% of activity.
up seq anno comments: In EPP1; enzyme retains 18% of activity.
up seq anno comments: In EPP1; enzyme retains 19% of activity.
up seq anno comments: In EPP1; enzyme retains 37% of activity.
up seq anno comments: In EPP1; enzyme retains 52% of activity.
up seq anno comments: In EPP1; enzyme retains 72% of activity.
up seq anno comments: In EPP1; enzyme totally inactive.
up seq anno comments: In EPP1; loss of activity.
up seq anno comments: In EPP1; no detectable enzymatic activity.
up seq anno comments: In EPP1; reduced activity.
up seq anno comments: In EPP1; unchanged activity; but increased thermolability.
up seq anno comments: In isoform 2.
up seq anno comments: Increases activity inhibition upon interaction with PGRMC1.
up seq anno comments: Loss of activity.
up seq anno comments: Mitochondrion
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-succinyllysine
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: No loss of activity.
up seq anno feature ids: PRO_0000008873
up seq anno feature ids: VAR_002383
up seq anno feature ids: VAR_002384
up seq anno feature ids: VAR_002385
up seq anno feature ids: VAR_002386
up seq anno feature ids: VAR_002387
up seq anno feature ids: VAR_012028
up seq anno feature ids: VAR_030553
up seq anno feature ids: VAR_030554
up seq anno feature ids: VAR_030555
up seq anno feature ids: VAR_030556
up seq anno feature ids: VAR_030557
up seq anno feature ids: VAR_030558
up seq anno feature ids: VAR_030559
up seq anno feature ids: VAR_030560
up seq anno feature ids: VAR_030561
up seq anno feature ids: VAR_030562
up seq anno feature ids: VAR_030563
up seq anno feature ids: VAR_030564
up seq anno feature ids: VAR_030565
up seq anno feature ids: VAR_030566
up seq anno feature ids: VAR_030567
up seq anno feature ids: VAR_030568

9606:ACTN4
gene id: 9606:ACTN4
uniprot id: A0A0S2Z3G9
uniprot id: H7C144
uniprot id: O43707
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Actin-binding
up seq anno comments: Alpha-actinin-4
up seq anno comments: Calponin-homology (CH)
up seq anno comments: Calponin-homology (CH) 1
up seq anno comments: Calponin-homology (CH) 2
up seq anno comments: EF-hand
up seq anno comments: EF-hand 1
up seq anno comments: EF-hand 2
up seq anno comments: In FSGS1.
up seq anno comments: In FSGS1; no effect on protein abundance; no effect on homodimerization; loss of localization to the nucleus; prevents nuclear localization of the wild-type protein; decreased interaction with PPARG and RARA; loss of transcriptional coactivator activity; dominant negative effect on nuclear receptors-mediated transcription; increased actin-binding affinity.
up seq anno comments: In FSGS1; unknown pathological significance.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform ACTN4ISO.
up seq anno comments: Interaction with VCL
up seq anno comments: LXXLL motif
up seq anno comments: Mediates interaction with MICALL2
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polyphosphoinositide (PIP2)-binding
up seq anno comments: Rare variant found in patients with IgA nephropathy; unknown pathological significance.
up seq anno comments: Reduced interaction with RARA. Loss of the transcriptional coac tivator activity toward RARA.
up seq anno comments: Spectrin 1
up seq anno comments: Spectrin 2
up seq anno comments: Spectrin 3
up seq anno comments: Spectrin 4
up seq anno feature ids: PRO_0000073440
up seq anno feature ids: VAR_010378
up seq anno feature ids: VAR_010379
up seq anno feature ids: VAR_010380
up seq anno feature ids: VAR_072115
up seq anno feature ids: VAR_072116
up seq anno feature ids: VAR_072117
up seq anno feature ids: VAR_072118
up seq anno feature ids: VAR_072119
up seq anno feature ids: VAR_072120
up seq anno feature ids: VAR_072121

9606:RIPK1
gene id: 9606:RIPK1
uniprot id: Q13546
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: (Microbial infection) N-beta-linked (GlcNAc) arginine
up seq anno comments: Abolished GlcNAcylation by E.coli NleB1.
up seq anno comments: Abolished cleavage by S.flexneri OspD3.
up seq anno comments: Abolishes RIP-mediated NF-Kappa-B activation.
up seq anno comments: Abolishes cleavage by caspase-8.
up seq anno comments: Abolishes kinase activity.
up seq anno comments: Basic and acidic residues
up seq anno comments: Blocks homodimerization, necroptosis and apoptosis.
up seq anno comments: Cleavage; by CASP8
up seq anno comments: Death
up seq anno comments: Decreases RIPK1 kinase activity.
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: In AIEFL; prevents cleavage by CASP8; changed inflammatory response.
up seq anno comments: In AIEFL; prevents cleavage by CASP8; increased kinase activity; increased inflammatory response.
up seq anno comments: In a colorectal adenocarcinoma sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with SQSTM1
up seq anno comments: No effect on RIPK1 autophosphorylation.
up seq anno comments: Phophomimetic mutant. Significant loss of kinase activity.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by IKKA and IKKB
up seq anno comments: Phosphoserine; by MAP3K7
up seq anno comments: Phosphoserine; by RIPK3 and autocatalysis
up seq anno comments: Phosphoserine; by autocatalysis
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: RIP homotypic interaction motif (RHIM)
up seq anno comments: Receptor-interacting serine/threonine-protein kinase 1
up seq anno comments: Strongly reduced homodimerization and interaction with RIPK3.
up seq anno feature ids: PRO_0000086606
up seq anno feature ids: VAR_021109
up seq anno feature ids: VAR_041039
up seq anno feature ids: VAR_041040
up seq anno feature ids: VAR_041041

9606:FAM98A
gene id: 9606:FAM98A
uniprot id: B4DT23
uniprot id: I6L9E8
uniprot id: Q8NCA5
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Protein FAM98A
up seq anno feature ids: PRO_0000187184

9606:GPR107
gene id: 9606:GPR107
uniprot id: G5E994
uniprot id: Q5VW38
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of furin cleavage.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: Protein GPR107
up seq anno feature ids: PRO_0000021340
up seq anno feature ids: PRO_5014571897
up seq anno feature ids: VAR_030863
up seq anno feature ids: VSP_014434
up seq anno feature ids: VSP_014435
up seq anno feature ids: VSP_014436

9606:RNASE6
gene id: 9606:RNASE6
uniprot id: Q6IB39
uniprot id: Q93091
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Strand
up seq anno comments: Critical for catalytic activity
up seq anno comments: Facilitates cleavage of polynucleotide substrates
up seq anno comments: Important for bactericidal activity, bacterial agglutination activity and binding to bacterial lipopolysaccharide (LPS)
up seq anno comments: Moderately impairs bactericidal activity, bacterial agglutination activity and binding to bacterial lipopolysaccharide (LPS).
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No significant effect on activity towards dinucleotides UpA and CpA. Reduced activity towards polymeric substrates poly(U) and poly(U):poly(A). Significantly reduced activity towards poly(U) and poly(U):poly(A); when associated with A-38.
up seq anno comments: Proton acceptor
up seq anno comments: Proton donor
up seq anno comments: Ribonuclease A-domain
up seq anno comments: Ribonuclease K6
up seq anno comments: Significantly reduced activity towards dinucleotides UpA and CpA. Slightly reduced activity towards polymeric substrates poly(U) and poly(U):poly(A). No effect on bactericidal activity. Significantly reduced activity towards poly(U) and poly(U):poly(A); when associated with R-59.
up seq anno comments: Strongly impairs bactericidal activity, bacterial agglutination activity and binding to bacterial lipopolysaccharide (LPS).
up seq anno feature ids: PRO_0000030892
up seq anno feature ids: PRO_5014205944
up seq anno feature ids: VAR_012048

9606:OR10V1
gene id: 9606:OR10V1
uniprot id: Q8NGI7
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 10V1
up seq anno feature ids: PRO_0000150718
up seq anno feature ids: VAR_034296
up seq anno feature ids: VAR_048065

9606:NEUROG2
gene id: 9606:NEUROG2
uniprot id: Q9H2A3
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno comments: Disordered
up seq anno comments: Neurogenin-2
up seq anno comments: Polar residues
up seq anno comments: bHLH
up seq anno feature ids: PRO_0000127400

9606:ZNF280D
gene id: 9606:ZNF280D
uniprot id: Q6N043
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3; degenerate
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Zinc finger protein 280D
up seq anno feature ids: PRO_0000227977
up seq anno feature ids: VAR_054314
up seq anno feature ids: VAR_054315
up seq anno feature ids: VAR_054316
up seq anno feature ids: VAR_054317
up seq anno feature ids: VSP_017622
up seq anno feature ids: VSP_017623
up seq anno feature ids: VSP_017624
up seq anno feature ids: VSP_017625
up seq anno feature ids: VSP_017626
up seq anno feature ids: VSP_017627
up seq anno feature ids: VSP_017628
up seq anno feature ids: VSP_054317
up seq anno feature ids: VSP_054318

9606:PCLAF
gene id: 9606:PCLAF
uniprot id: Q15004
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: D-box
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
up seq anno comments: In isoform 2.
up seq anno comments: Inhibits chain initiation by APC/C.
up seq anno comments: Initiation motif
up seq anno comments: KEN box
up seq anno comments: Loss of binding to PCNA.
up seq anno comments: Loss of monoubiquitination; when associated with R-15.
up seq anno comments: Loss of monoubiquitination; when associated with R-24.
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: No effect on chain initiation by APC/C.
up seq anno comments: PCNA-associated factor
up seq anno comments: PIP-box
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Stabilizes the protein in G1 by preventing association with the APC/C complex and degradation by the proteasome.
up seq anno feature ids: PRO_0000096684
up seq anno feature ids: VAR_051262
up seq anno feature ids: VSP_045659

9606:CTHRC1
gene id: 9606:CTHRC1
uniprot id: Q96CG8
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Collagen triple helix repeat-containing protein 1
up seq anno comments: Collagen-like
up seq anno comments: Disordered
up seq anno comments: Found in patients with Barrett esophagus.
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000021038
up seq anno feature ids: VAR_066589
up seq anno feature ids: VSP_013622
up seq anno feature ids: VSP_013623

9606:UEVLD
gene id: 9606:UEVLD
uniprot id: B4DIA9
uniprot id: Q8IX04
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: In isoform 2, isoform 3 and isoform 4.
up seq anno comments: In isoform 3 and isoform 6.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 7.
up seq anno comments: Lactate/malate dehydrogenase C-terminal
up seq anno comments: Lactate/malate dehydrogenase N-terminal
up seq anno comments: UEV
up seq anno comments: Ubiquitin-conjugating enzyme E2 variant 3
up seq anno feature ids: PRO_0000278651
up seq anno feature ids: VSP_023346
up seq anno feature ids: VSP_023347
up seq anno feature ids: VSP_023348
up seq anno feature ids: VSP_023349
up seq anno feature ids: VSP_023350
up seq anno feature ids: VSP_023351
up seq anno feature ids: VSP_045986
up seq anno feature ids: VSP_045987
up seq anno feature ids: VSP_045988

9606:ARHGEF25
gene id: 9606:ARHGEF25
uniprot id: Q86VW2
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes its exchange activity on RHOA.
up seq anno comments: DH
up seq anno comments: Disordered
up seq anno comments: Important for binding to Rho GTPases
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: PH
up seq anno comments: Polar residues
up seq anno comments: Reduces exchange activity mediated by GNAQ activation; in truncated construct.
up seq anno comments: Rho guanine nucleotide exchange factor 25
up seq anno comments: Sufficient to bind activated GNAQ
up seq anno feature ids: PRO_0000322132
up seq anno feature ids: VAR_039402
up seq anno feature ids: VAR_039403
up seq anno feature ids: VAR_039404
up seq anno feature ids: VSP_031875
up seq anno feature ids: VSP_047254

9606:SHD
gene id: 9606:SHD
uniprot id: Q96IW2
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: SH2
up seq anno comments: SH2 domain-containing adapter protein D
up seq anno feature ids: PRO_0000246773
up seq anno feature ids: VAR_027043
up seq anno feature ids: VAR_027044

9606:PFKFB1
gene id: 9606:PFKFB1
uniprot id: I1Z9G4
uniprot id: P16118
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 6-phosphofructo-2-kinase
up seq anno comments: 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1
up seq anno comments: Fructose-2,6-bisphosphatase
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylserine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PKA
up seq anno comments: Proton donor/acceptor
up seq anno comments: Removed
up seq anno comments: Tele-phosphohistidine intermediate
up seq anno comments: Transition state stabilizer
up seq anno feature ids: PRO_0000179960
up seq anno feature ids: VSP_054795

9606:ZNF557
gene id: 9606:ZNF557
uniprot id: Q8N988
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: In isoform 2.
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 557
up seq anno feature ids: PRO_0000047647
up seq anno feature ids: VSP_014515

9606:DVL3
gene id: 9606:DVL3
uniprot id: Q92997
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Asymmetric dimethylarginine; by PRMT1; alternate
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: DEP
up seq anno comments: DIX
up seq anno comments: Dimethylated arginine; alternate
up seq anno comments: Disordered
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Localizes to plasma membranes.
up seq anno comments: No effect on subcellular location.
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Omega-N-methylarginine; alternate
up seq anno comments: PDZ
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Segment polarity protein dishevelled homolog DVL-3
up seq anno comments: Symmetric dimethylarginine; by PRMT7
up seq anno comments: Symmetric dimethylarginine; by PRMT7; alternate
up seq anno feature ids: PRO_0000145749
up seq anno feature ids: VAR_025519
up seq anno feature ids: VAR_036116
up seq anno feature ids: VSP_053371

9606:C1QBP
gene id: 9606:C1QBP
uniprot id: Q07021
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: C1q binding
up seq anno comments: Complement component 1 Q subcomponent-binding protein, mitochondrial
up seq anno comments: Disordered
up seq anno comments: Impairs HIVRNA splicing in mouse cells.
up seq anno comments: In COXPD33.
up seq anno comments: In COXPD33; unknown pathological significance.
up seq anno comments: Interaction with MAVS
up seq anno comments: Mitochondrion
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno feature ids: PRO_0000018590
up seq anno feature ids: VAR_080391
up seq anno feature ids: VAR_080392
up seq anno feature ids: VAR_080393
up seq anno feature ids: VAR_080394
up seq anno feature ids: VAR_080395
up seq anno feature ids: VAR_080396

9606:LRRC4C
gene id: 9606:LRRC4C
uniprot id: Q4JIV9
uniprot id: Q4JIW0
uniprot id: Q9HCJ2
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: Ig-like
up seq anno comments: Ig-like C2-type
up seq anno comments: LRR 1
up seq anno comments: LRR 2
up seq anno comments: LRR 3
up seq anno comments: LRR 4
up seq anno comments: LRR 5
up seq anno comments: LRR 6
up seq anno comments: LRR 7
up seq anno comments: LRR 8
up seq anno comments: LRR 9
up seq anno comments: LRRCT
up seq anno comments: LRRNT
up seq anno comments: Leucine-rich repeat-containing protein 4C
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000015108
up seq anno feature ids: PRO_5004239102
up seq anno feature ids: PRO_5004239235

9606:SHROOM4
gene id: 9606:SHROOM4
uniprot id: Q9ULL8
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: ASD2
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Found in a family with Stocco dos Santos-type X-linked syndromic intellectual developmental disorder; unknown pathological significance.
up seq anno comments: Found in a patient with Rett syndrome-like phenotype; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: PDZ
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Protein Shroom4
up seq anno feature ids: PRO_0000287077
up seq anno feature ids: VAR_032257
up seq anno feature ids: VAR_032258
up seq anno feature ids: VAR_057770
up seq anno feature ids: VAR_057771
up seq anno feature ids: VAR_074639
up seq anno feature ids: VAR_075207
up seq anno feature ids: VAR_079036
up seq anno feature ids: VSP_025290

9606:SATB2
gene id: 9606:SATB2
uniprot id: B3KPQ9
uniprot id: Q59FT3
uniprot id: Q9UPW6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Turn
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: CUT
up seq anno comments: CUT 1
up seq anno comments: CUT 2
up seq anno comments: CUTL
up seq anno comments: DNA-binding protein SATB2
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: Homeobox
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Reduced sumoylation, impaired nuclear localization, but enhanced transcription factor activity.
up seq anno comments: ULD
up seq anno feature ids: PRO_0000202400
up seq anno feature ids: VAR_059320
up seq anno feature ids: VSP_054416

9606:TMEM217
gene id: 9606:TMEM217
uniprot id: A0A494C081
uniprot id: Q8N7C4
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Transmembrane protein 217
up seq anno feature ids: PRO_0000089528
up seq anno feature ids: VSP_014386
up seq anno feature ids: VSP_014387

9606:MTMR1
gene id: 9606:MTMR1
uniprot id: B7Z3D5
uniprot id: F8WA39
uniprot id: Q13613
uniprot id: Q8NEC6
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes enzyme activity with phosphatidylinositol 3-phosphate. Reduces activity with phosphatidylinositol (3,5)-bisphosphate.
up seq anno comments: Abolishes enzyme activity.
up seq anno comments: Disordered
up seq anno comments: GRAM
up seq anno comments: In isoform 1A.
up seq anno comments: Myotubularin phosphatase
up seq anno comments: Myotubularin-related protein 1
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphocysteine intermediate
up seq anno comments: Phosphoserine
up seq anno comments: Required for dimerization
up seq anno comments: Tyrosine specific protein phosphatases
up seq anno feature ids: PRO_0000094932
up seq anno feature ids: VSP_005169
up seq anno feature ids: VSP_005170

9606:BRIX1
gene id: 9606:BRIX1
uniprot id: Q8TDN6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Brix
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Ribosome biogenesis protein BRX1 homolog
up seq anno feature ids: PRO_0000120230

9606:RTBDN
gene id: 9606:RTBDN
uniprot id: K7ESG0
uniprot id: Q8N210
uniprot id: Q9BSG5
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: Folate receptor-like
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Polar residues
up seq anno comments: Retbindin
up seq anno feature ids: PRO_0000043174
up seq anno feature ids: VAR_049053
up seq anno feature ids: VSP_037666
up seq anno feature ids: VSP_046903

9606:C2CD5
gene id: 9606:C2CD5
uniprot id: B7ZLK1
uniprot id: Q86YS7
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: C2
up seq anno comments: C2 domain-containing protein 5
up seq anno comments: Disordered
up seq anno comments: Does not inhibit insulin-stimulated SLC2A4/GLUT4 translocation.
up seq anno comments: In isoform 2, isoform 3 and isoform 4.
up seq anno comments: In isoform 2, isoform 4 and isoform 5.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: Inhibits insulin-stimulated AKT2-induced phosphorylation, SLC2A4/GLUT4 translocation to the cell surface and GSV-PM fusion.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PKB/AKT2
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Reduces calcium-binding, phospholipid membrane-binding and insulin-stimulated SLC2A4/GLUT4 translocation; when associated with A-19; A-26; A-76 and A-78.
up seq anno comments: Reduces calcium-binding, phospholipid membrane-binding and insulin-stimulated SLC2A4/GLUT4 translocation; when associated with A-19; A-26; A-76 and A-84.
up seq anno comments: Reduces calcium-binding, phospholipid membrane-binding and insulin-stimulated SLC2A4/GLUT4 translocation; when associated with A-19; A-26; A-78 and A-84.
up seq anno comments: Reduces calcium-binding, phospholipid membrane-binding and insulin-stimulated SLC2A4/GLUT4 translocation; when associated with A-19; A-76; A-78 and A-84.
up seq anno comments: Reduces calcium-binding, phospholipid membrane-binding and insulin-stimulated SLC2A4/GLUT4 translocation; when associated with A-26; A-76; A-78 and A-84.
up seq anno feature ids: PRO_0000247450
up seq anno feature ids: VSP_028255
up seq anno feature ids: VSP_028256
up seq anno feature ids: VSP_055638
up seq anno feature ids: VSP_055639
up seq anno feature ids: VSP_055640

9606:STK32A
gene id: 9606:STK32A
uniprot id: B7Z9H7
uniprot id: Q8WU08
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Lipid Binding
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: In a lung neuroendocrine carcinoma sample; somatic mutation.
up seq anno comments: In a metastatic melanoma sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Localizes to cytoplasm.
up seq anno comments: N-myristoyl glycine
up seq anno comments: Polar residues
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Removed
up seq anno comments: Serine/threonine-protein kinase 32A
up seq anno feature ids: PRO_0000232411
up seq anno feature ids: VAR_041163
up seq anno feature ids: VAR_041164
up seq anno feature ids: VAR_041165
up seq anno feature ids: VSP_051992
up seq anno feature ids: VSP_051993
up seq anno feature ids: VSP_051994
up seq anno feature ids: VSP_051995

9606:TNFSF8
gene id: 9606:TNFSF8
uniprot id: A0A087X228
uniprot id: P32971
uniprot id: Q52M88
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: TNF family profile
up seq anno comments: Tumor necrosis factor ligand superfamily member 8
up seq anno feature ids: PRO_0000185499

9606:ARID4B
gene id: 9606:ARID4B
uniprot id: Q4LE39
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: ARID
up seq anno comments: AT-rich interactive domain-containing protein 4B
up seq anno comments: Acidic residues
up seq anno comments: Antigenic epitope
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Tudor-knot
up seq anno feature ids: PRO_0000282863
up seq anno feature ids: VSP_024230
up seq anno feature ids: VSP_024231
up seq anno feature ids: VSP_024232
up seq anno feature ids: VSP_024233
up seq anno feature ids: VSP_024234
up seq anno feature ids: VSP_024235

9606:ZNF528
gene id: 9606:ZNF528
uniprot id: Q3MIS6
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 12
up seq anno comments: C2H2-type 13
up seq anno comments: C2H2-type 14
up seq anno comments: C2H2-type 15
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: In isoform 2.
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 528
up seq anno feature ids: PRO_0000280418
up seq anno feature ids: VAR_052858
up seq anno feature ids: VSP_023662

9606:GPR157
gene id: 9606:GPR157
uniprot id: Q5UAW9
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptor 157
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000070339

9606:UGT2B11
gene id: 9606:UGT2B11
uniprot id: O75310
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Signal Peptide
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: N6-succinyllysine
up seq anno comments: UDP-glucuronosyltransferase 2B11
up seq anno feature ids: PRO_0000036035

9606:SLC28A3
gene id: 9606:SLC28A3
uniprot id: Q9HAS3
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: INTRAMEM
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: INTRAMEM
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Decreased uridine transport. Normal localization to the cell membrane.
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=HP1
up seq anno comments: Helical; Name=HP2
up seq anno comments: Helical; Name=TM1
up seq anno comments: Helical; Name=TM10
up seq anno comments: Helical; Name=TM11
up seq anno comments: Helical; Name=TM2
up seq anno comments: Helical; Name=TM3
up seq anno comments: Helical; Name=TM4
up seq anno comments: Helical; Name=TM5
up seq anno comments: Helical; Name=TM6
up seq anno comments: Helical; Name=TM7
up seq anno comments: Helical; Name=TM8
up seq anno comments: Helical; Name=TM9
up seq anno comments: In isoform 2.
up seq anno comments: Lower concentrative capacity and altered sodium binding capacity.
up seq anno comments: Polar residues
up seq anno comments: Reduced transport of inosine and thymidine.
up seq anno comments: Solute carrier family 28 member 3
up seq anno feature ids: PRO_0000324146
up seq anno feature ids: VAR_039665
up seq anno feature ids: VAR_039666
up seq anno feature ids: VAR_039667
up seq anno feature ids: VAR_039668
up seq anno feature ids: VAR_039669
up seq anno feature ids: VAR_039670
up seq anno feature ids: VAR_039671
up seq anno feature ids: VAR_039672
up seq anno feature ids: VAR_039673
up seq anno feature ids: VAR_039674
up seq anno feature ids: VAR_039675
up seq anno feature ids: VAR_039676
up seq anno feature ids: VAR_039677
up seq anno feature ids: VAR_039678
up seq anno feature ids: VAR_070606
up seq anno feature ids: VSP_053848

9606:FUT1
gene id: 9606:FUT1
uniprot id: P19526
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Found in individuals with Bombay phenotype.
up seq anno comments: Found in individuals with para-Bombay phenotype.
up seq anno comments: Found in individuals with para-Bombay phenotype; allele H3.
up seq anno comments: Found in individuals with para-Bombay phenotype; allele H4.
up seq anno comments: Found in individuals with para-Bombay phenotype; allele H5.
up seq anno comments: Galactoside alpha-(1,2)-fucosyltransferase 1
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000149095
up seq anno feature ids: VAR_003417
up seq anno feature ids: VAR_003418
up seq anno feature ids: VAR_003419
up seq anno feature ids: VAR_003420
up seq anno feature ids: VAR_003421
up seq anno feature ids: VAR_009708
up seq anno feature ids: VAR_009709
up seq anno feature ids: VAR_020536
up seq anno feature ids: VAR_020537
up seq anno feature ids: VAR_020538
up seq anno feature ids: VAR_020539
up seq anno feature ids: VAR_022268

9606:CEP126
gene id: 9606:CEP126
uniprot id: Q9P2H0
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Centrosomal protein of 126 kDa
up seq anno comments: Disordered
up seq anno comments: May be associated with susceptibility to monomelic amyotrophy.
up seq anno feature ids: PRO_0000248831
up seq anno feature ids: VAR_027363
up seq anno feature ids: VAR_027364
up seq anno feature ids: VAR_027365
up seq anno feature ids: VAR_027366
up seq anno feature ids: VAR_027367
up seq anno feature ids: VAR_027368
up seq anno feature ids: VAR_027369
up seq anno feature ids: VAR_027370
up seq anno feature ids: VAR_068173

9606:ABCF1
gene id: 9606:ABCF1
uniprot id: A0A1U9X609
uniprot id: Q2L6I2
uniprot id: Q8NE71
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: ABC transporter
up seq anno comments: ABC transporter 1
up seq anno comments: ABC transporter 2
up seq anno comments: ATP-binding cassette sub-family F member 1
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Does not inhibit ribosome binding.
up seq anno comments: Does not inhibit ribosome binding. Reduces ATP-binding. Inhibits ATP-binding and reduces protein synthesis; when associated with M-342. Shows a reduced association with polyribosomes; when associated with M-664. Does not inhibit IRES-mediated protein synthesis; when associated with M-664.
up seq anno comments: Does not inhibit ribosome binding. Reduces ATP-binding. Inhibits ATP-binding and reduces protein synthesis; when associated with M-664. Shows an enhanced association with polyribosomes; when associated with M-664. Does not inhibit IRES-mediated protein synthesis; when associated with M-664.
up seq anno comments: Does not inhibit ribosome binding. Reduces protein synthesis; when associated with Q-477.
up seq anno comments: Does not inhibit ribosome binding. Reduces protein synthesis; when associated with Q-768.
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CK2
up seq anno comments: Phosphothreonine
up seq anno comments: Reduces phosphorylation. Inhibits strongly phosphorylation by CK2; when associated with S-109. Does not inhibits interaction with EIF2; when associated with S-109. Does not inhibit association with ribosomes; when associated with S-109. Reduces EIF2 interaction with ribosomes; when associated with S-109. Does not inhibit protein synthesis; when associated with A-109.
up seq anno comments: Reduces phosphorylation. Inhibits strongly phosphorylation by CK2; when associated with S-140. Does not inhibit interaction with EIF2; when associated with S-140. Does not inhibit association with ribosomes; when associated with S-140. Reduces EIF2 interaction with ribosomes; when associated with S-140. Does not inhibit protein synthesis; when associated with A-140.
up seq anno feature ids: PRO_0000093318
up seq anno feature ids: VAR_048136
up seq anno feature ids: VSP_012078

9606:HIKESHI
gene id: 9606:HIKESHI
uniprot id: Q53FT3
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Decreases nuclear import activity of HSPA8. Does not affect the dimer formation. Decreases binding to HSPA8.
up seq anno comments: Decreases nuclear import activity of HSPA8. Does not affect the dimer formation. Impairs binding to HSPA8.
up seq anno comments: Decreases nuclear import activity of HSPA8. Does not affect the dimer formation. Markedly decreases binding to HSPA8.
up seq anno comments: Flexible linker region involved in nuclear import of HSP70 proteins
up seq anno comments: Impairs the nuclear migrating activity.
up seq anno comments: In HLD13.
up seq anno comments: Increases the nuclear migrating activity.
up seq anno comments: Protein Hikeshi
up seq anno comments: Reduces the nuclear migrating activity.
up seq anno comments: Required for F-X-F-G repeats-nucleoporins recognition and nuclear import
up seq anno feature ids: PRO_0000245262
up seq anno feature ids: VAR_026968
up seq anno feature ids: VAR_076411

9606:CNKSR2
gene id: 9606:CNKSR2
uniprot id: A0A2R8Y622
uniprot id: A0A2R8Y700
uniprot id: A0A2R8Y7A1
uniprot id: A0A2U3TZH5
uniprot id: B3KPN2
uniprot id: Q8WXI2
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: CRIC
up seq anno comments: Connector enhancer of kinase suppressor of ras 2
up seq anno comments: DUF1170
up seq anno comments: Disordered
up seq anno comments: In MRXSHG.
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: PDZ
up seq anno comments: PH
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: SAM
up seq anno feature ids: PRO_0000089970
up seq anno feature ids: VAR_035681
up seq anno feature ids: VAR_080600
up seq anno feature ids: VSP_010887
up seq anno feature ids: VSP_043168
up seq anno feature ids: VSP_043169

9606:TRABD2B
gene id: 9606:TRABD2B
uniprot id: A6NFA1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Metalloprotease TIKI2
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000346436

9606:EFR3B
gene id: 9606:EFR3B
uniprot id: Q9Y2G0
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Induces localization to the cytosol.
up seq anno comments: Phosphoserine
up seq anno comments: Protein EFR3 homolog B
up seq anno feature ids: PRO_0000312295
up seq anno feature ids: VSP_029806
up seq anno feature ids: VSP_029807

9606:SLC35D3
gene id: 9606:SLC35D3
uniprot id: B7Z9Y0
uniprot id: Q5M8T2
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: Solute carrier family 35 member D3
up seq anno feature ids: PRO_0000307727

9606:PLK5
gene id: 9606:PLK5
uniprot id: Q496M5
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Inactive serine/threonine-protein kinase PLK5
up seq anno comments: POLO box
up seq anno comments: Protein kinase; truncated
up seq anno feature ids: PRO_0000280397
up seq anno feature ids: VSP_023654

9606:TCF25
gene id: 9606:TCF25
uniprot id: Q9BQ70
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Phosphoserine
up seq anno comments: Ribosome quality control complex subunit TCF25
up seq anno feature ids: PRO_0000087265

9606:RSPH1
gene id: 9606:RSPH1
uniprot id: Q8WYR4
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In CILD24.
up seq anno comments: In isoform 2.
up seq anno comments: MORN 1
up seq anno comments: MORN 2
up seq anno comments: MORN 3
up seq anno comments: MORN 4
up seq anno comments: MORN 5
up seq anno comments: MORN 6
up seq anno comments: Radial spoke head 1 homolog
up seq anno feature ids: PRO_0000065662
up seq anno feature ids: VAR_070564
up seq anno feature ids: VSP_055743

9606:EPB41L1
gene id: 9606:EPB41L1
uniprot id: A0A0C4DH22
uniprot id: B7Z653
uniprot id: Q9H4G0
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Band 4.1-like protein 1
up seq anno comments: Basic and acidic residues
up seq anno comments: C-terminal (CTD)
up seq anno comments: Disordered
up seq anno comments: FERM
up seq anno comments: In MRD11; results in a 50% reduction of interaction of 4.1N protein to GRIA1 compared to wild-type.
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 2, isoform 3 and isoform 4.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Spectrin--actin-binding
up seq anno feature ids: PRO_0000219395
up seq anno feature ids: VAR_066600
up seq anno feature ids: VSP_023958
up seq anno feature ids: VSP_023959
up seq anno feature ids: VSP_023960
up seq anno feature ids: VSP_023961
up seq anno feature ids: VSP_023962
up seq anno feature ids: VSP_023963

9606:ZNF704
gene id: 9606:ZNF704
uniprot id: Q6ZNC4
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type
up seq anno comments: CR1
up seq anno comments: CR2
up seq anno comments: Disordered
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Sufficient for binding to RE2 sequence motifs
up seq anno comments: Zinc finger protein 704
up seq anno feature ids: PRO_0000288824
up seq anno feature ids: VAR_032506

9606:CBLN3
gene id: 9606:CBLN3
uniprot id: Q6UW01
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Signal Peptide
up seq anno comments: C1q
up seq anno comments: Cerebellin-3
up seq anno comments: Interchain
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Necessary for interaction with CBLN3, and homotrimerization
up seq anno feature ids: PRO_0000003554

9606:STMND1
gene id: 9606:STMND1
uniprot id: H3BQB6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Initiator Methionine
up seq anno labels: Lipid Binding
up seq anno labels: Region
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: N-myristoyl glycine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno comments: SLD
up seq anno comments: Stathmin domain-containing protein 1
up seq anno feature ids: PRO_0000421693

9606:PABPC5
gene id: 9606:PABPC5
uniprot id: Q96DU9
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: Polyadenylate-binding protein 5
up seq anno comments: RRM 1
up seq anno comments: RRM 2
up seq anno comments: RRM 3
up seq anno comments: RRM 4
up seq anno feature ids: PRO_0000081705
up seq anno feature ids: VAR_054049
up seq anno feature ids: VSP_047456

9606:PWWP3A
gene id: 9606:PWWP3A
uniprot id: J3KNX4
uniprot id: Q2TAK8
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: PWWP
up seq anno comments: PWWP domain-containing DNA repair factor 3A
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000295046
up seq anno feature ids: VAR_033195
up seq anno feature ids: VAR_033196
up seq anno feature ids: VSP_026684
up seq anno feature ids: VSP_026685
up seq anno feature ids: VSP_053986

9606:DCN
gene id: 9606:DCN
uniprot id: P07585
uniprot id: Q6FH10
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Propeptide
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Decorin
up seq anno comments: In isoform B.
up seq anno comments: In isoform C.
up seq anno comments: In isoform D.
up seq anno comments: In isoform E.
up seq anno comments: LRR 1
up seq anno comments: LRR 10
up seq anno comments: LRR 11
up seq anno comments: LRR 12
up seq anno comments: LRR 2
up seq anno comments: LRR 3
up seq anno comments: LRR 4
up seq anno comments: LRR 5
up seq anno comments: LRR 6
up seq anno comments: LRR 7
up seq anno comments: LRR 8
up seq anno comments: LRR 9
up seq anno comments: LRRNT
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: O-linked (Xyl...) (glycosaminoglycan) serine
up seq anno feature ids: PRO_0000032709
up seq anno feature ids: PRO_0000032710
up seq anno feature ids: PRO_5014205939
up seq anno feature ids: VAR_011975
up seq anno feature ids: VAR_014351
up seq anno feature ids: VSP_006172
up seq anno feature ids: VSP_006173
up seq anno feature ids: VSP_006174
up seq anno feature ids: VSP_006175
up seq anno feature ids: VSP_006176

9606:OR1L6
gene id: 9606:OR1L6
uniprot id: A0A0C4DFP2
uniprot id: Q8NGR2
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 1L6
up seq anno feature ids: PRO_0000150445
up seq anno feature ids: VAR_055056
up seq anno feature ids: VAR_055057
up seq anno feature ids: VAR_055058
up seq anno feature ids: VAR_055059

9606:EXOC1
gene id: 9606:EXOC1
uniprot id: Q9NV70
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Exocyst complex component 1
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno feature ids: PRO_0000118913
up seq anno feature ids: VSP_001481

9606:ZSCAN31
gene id: 9606:ZSCAN31
uniprot id: B3KTA4
uniprot id: Q96LW9
uniprot id: Q96QL1
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: SCAN box
up seq anno comments: Zinc finger and SCAN domain-containing protein 31
up seq anno feature ids: PRO_0000047532
up seq anno feature ids: VAR_019981
up seq anno feature ids: VAR_024209
up seq anno feature ids: VAR_052809
up seq anno feature ids: VAR_052810
up seq anno feature ids: VAR_059911
up seq anno feature ids: VSP_047105

9606:LY75
gene id: 9606:LY75
uniprot id: O60449
uniprot id: Q59H44
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: C-type lectin
up seq anno comments: C-type lectin 1
up seq anno comments: C-type lectin 10
up seq anno comments: C-type lectin 2
up seq anno comments: C-type lectin 3
up seq anno comments: C-type lectin 4
up seq anno comments: C-type lectin 5
up seq anno comments: C-type lectin 6
up seq anno comments: C-type lectin 7
up seq anno comments: C-type lectin 8
up seq anno comments: C-type lectin 9
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Fibronectin type-II
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Lymphocyte antigen 75
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Ricin B-type lectin
up seq anno feature ids: PRO_0000017552
up seq anno feature ids: VAR_024522
up seq anno feature ids: VAR_027824
up seq anno feature ids: VAR_027825
up seq anno feature ids: VAR_027826
up seq anno feature ids: VAR_027827
up seq anno feature ids: VAR_027828
up seq anno feature ids: VAR_027829
up seq anno feature ids: VAR_027830
up seq anno feature ids: VAR_027831
up seq anno feature ids: VAR_056156
up seq anno feature ids: VAR_056157
up seq anno feature ids: VAR_056158
up seq anno feature ids: VSP_020908
up seq anno feature ids: VSP_020909

9606:FUT9
gene id: 9606:FUT9
uniprot id: Q9Y231
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase 9
up seq anno comments: Almost complete loss of alpha 1,3-fucosyltransferase activity. Almost complete loss of alpha 1,3-fucosyltransferase activity; when associated with Q-62. Almost complete loss of alpha 1,3-fucosyltransferase activity; when associated with Q-101.
up seq anno comments: Cytoplasmic
up seq anno comments: Does not affect glycosylation. Does not affect 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase activity. Affects subcellular location.
up seq anno comments: Does not affect glycosylation; when associated with A-3. Does not affect 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase activity; when associated with A-3. Does not affect subcellular location; when associated with A-3.
up seq anno comments: Does not affect glycosylation; when associated with A-5. Does not affect 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase activity; when associated with A-5. Does not affect subcellular location; when associated with A-5.
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Significantly decrease alpha 1,3-fucosyltransferase activity. Almost complete loss of alpha 1,3-fucosyltransferase activity; when associated with Q-62. Almost complete loss of alpha 1,3-fucosyltransferase activity; when associated with Q-153. Loss of catalytic efficiency.
up seq anno comments: Weakly decreases alpha 1,3-fucosyltransferase activity. Almost complete loss of alpha 1,3-fucosyltransferase activity; when associated with Q-101. Almost complete loss of alpha 1,3-fucosyltransferase activity; when associated with Q-153. Loss of catalytic efficiency.
up seq anno feature ids: PRO_0000221118
up seq anno feature ids: VAR_024465
up seq anno feature ids: VAR_030575

9606:CLC
gene id: 9606:CLC
uniprot id: Q05315
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Galectin
up seq anno comments: Galectin-10
up seq anno comments: N-acetylserine
up seq anno comments: Not glycosylated
up seq anno comments: Removed
up seq anno feature ids: PRO_0000076960
up seq anno feature ids: VAR_014765

9606:KCTD9
gene id: 9606:KCTD9
uniprot id: Q7L273
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: BTB
up seq anno comments: BTB/POZ domain-containing protein KCTD9
up seq anno comments: Impaired interaction with CUL3.
up seq anno comments: KHA
up seq anno comments: Pentapeptide repeat 1
up seq anno comments: Pentapeptide repeat 2
up seq anno comments: Pentapeptide repeat 3
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000191293

9606:PHACTR1
gene id: 9606:PHACTR1
uniprot id: A0A6Q8PFA8
uniprot id: A0A6Q8PG87
uniprot id: A0A6Q8PGC2
uniprot id: A0A8I5QJF9
uniprot id: B4DHU0
uniprot id: Q9C0D0
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In DEE70; loss of interaction with PP1 complex.
up seq anno comments: In DEE70; severely impaired interaction with actin.
up seq anno comments: In isoform 2.
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphatase and actin regulator 1
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: RPEL
up seq anno comments: RPEL 1
up seq anno comments: RPEL 2
up seq anno comments: RPEL 3
up seq anno comments: RPEL 4
up seq anno feature ids: PRO_0000126634
up seq anno feature ids: VAR_053645
up seq anno feature ids: VAR_069379
up seq anno feature ids: VAR_081810
up seq anno feature ids: VAR_081811
up seq anno feature ids: VSP_018529
up seq anno feature ids: VSP_018530

9606:MAPRE2
gene id: 9606:MAPRE2
uniprot id: Q15555
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: APC-binding
up seq anno comments: Calponin-homology (CH)
up seq anno comments: DCTN1-binding
up seq anno comments: Disordered
up seq anno comments: EB1 C-terminal
up seq anno comments: In CSCSC2; enhances binding to microtubules.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: Microtubule-associated protein RP/EB family member 2
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno feature ids: PRO_0000213424
up seq anno feature ids: VAR_050018
up seq anno feature ids: VAR_076540
up seq anno feature ids: VAR_076541
up seq anno feature ids: VAR_076542
up seq anno feature ids: VSP_012944
up seq anno feature ids: VSP_012945
up seq anno feature ids: VSP_045710
up seq anno feature ids: VSP_046041
up seq anno feature ids: VSP_055671

9606:TBC1D22B
gene id: 9606:TBC1D22B
uniprot id: Q9NU19
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Almost complete loss of ACBD3-binding.
up seq anno comments: Disordered
up seq anno comments: N-acetylalanine
up seq anno comments: No effect on ACBD3-binding.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Rab-GAP TBC
up seq anno comments: Removed
up seq anno comments: TBC1 domain family member 22B
up seq anno feature ids: PRO_0000208054

9606:MICU2
gene id: 9606:MICU2
uniprot id: A0A0S2Z6V5
uniprot id: Q8IYU8
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: Abolishes mitochondrial Ca(2+) uptake; when associated with A-185 and A-375.
up seq anno comments: Abolishes mitochondrial Ca(2+) uptake; when associated with A-185 and A-386.
up seq anno comments: Abolishes mitochondrial Ca(2+) uptake; when associated with A-375 and A-386.
up seq anno comments: Calcium uptake protein 2, mitochondrial
up seq anno comments: EF-hand
up seq anno comments: EF-hand 1
up seq anno comments: EF-hand 2
up seq anno comments: EF-hand 3
up seq anno comments: EF-hand 4
up seq anno comments: Interchain (with C-463 in MICU1)
up seq anno comments: Mitochondrion
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000251217
up seq anno feature ids: VAR_027662

9606:CLEC18A
gene id: 9606:CLEC18A
uniprot id: A5D8T8
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: C-type lectin
up seq anno comments: C-type lectin domain family 18 member A
up seq anno comments: EGF-like
up seq anno comments: Has a mild effect on polysaccharides binding.
up seq anno comments: In allele CLEC18A-1.
up seq anno comments: In allele CLEC18A-1; abolishes binding to polysaccharides.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: SCP
up seq anno feature ids: PRO_0000324316
up seq anno feature ids: VAR_059449
up seq anno feature ids: VAR_074610
up seq anno feature ids: VAR_074611
up seq anno feature ids: VSP_032204
up seq anno feature ids: VSP_032205

9606:TPD52L3
gene id: 9606:TPD52L3
uniprot id: A0A140VKH0
uniprot id: Q96J77
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Tumor protein D55
up seq anno feature ids: PRO_0000295856
up seq anno feature ids: VAR_033372
up seq anno feature ids: VSP_027113
up seq anno feature ids: VSP_027114

9606:AGAP9
gene id: 9606:AGAP9
uniprot id: Q5VTM2
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: ANK
up seq anno comments: Arf-GAP
up seq anno comments: Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 9
up seq anno comments: Basic and acidic residues
up seq anno comments: C4-type
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: PH
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000284677
up seq anno feature ids: VSP_044549
up seq anno feature ids: VSP_044550
up seq anno feature ids: VSP_044551

9606:SEC24A
gene id: 9606:SEC24A
uniprot id: B4E205
uniprot id: O95486
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Decreased ability to interact with and package the SNARESEC22B cargo into COPII vesicles. Has no effect on other cargos packaging.
up seq anno comments: Disordered
up seq anno comments: Gelsolin-like
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Protein transport protein Sec24A
up seq anno comments: Sec23/Sec24 beta-sandwich
up seq anno comments: Sec23/Sec24 helical
up seq anno comments: Sec23/Sec24 trunk
up seq anno comments: Zinc finger Sec23/Sec24-type
up seq anno comments: Zinc finger-like
up seq anno feature ids: PRO_0000205153
up seq anno feature ids: VAR_037253
up seq anno feature ids: VAR_037254
up seq anno feature ids: VAR_037255
up seq anno feature ids: VSP_029571
up seq anno feature ids: VSP_029572

9606:RPL10
gene id: 9606:RPL10
uniprot id: P27635
uniprot id: X5D2T3
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Citrulline
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: In AUTSX5; associated with disease susceptibility; no effect on function; rescues embryonic brain development when expressed in a zebrafish heterologous system.
up seq anno comments: In MRXS35; increased the formation of actively translating ribosomes when expressed in a yeast heterologous system.
up seq anno comments: In MRXS35; loss of function; fails to rescue embryonic brain development when expressed in a zebrafish heterologous system.
up seq anno comments: In MRXS35; unknown pathological significance.
up seq anno comments: Large ribosomal subunit protein uL16
up seq anno comments: Removed
up seq anno comments: Rescues embryonic brain development when expressed in a zebrafish heterologous system.
up seq anno feature ids: PRO_0000147105
up seq anno feature ids: VAR_006922
up seq anno feature ids: VAR_027795
up seq anno feature ids: VAR_027796
up seq anno feature ids: VAR_079288
up seq anno feature ids: VAR_079289
up seq anno feature ids: VAR_079290

9606:PCDHB9
gene id: 9606:PCDHB9
uniprot id: Q59H00
uniprot id: Q9Y5E1
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cadherin
up seq anno comments: Cadherin 1
up seq anno comments: Cadherin 2
up seq anno comments: Cadherin 3
up seq anno comments: Cadherin 4
up seq anno comments: Cadherin 5
up seq anno comments: Cadherin 6
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Protocadherin beta-9
up seq anno feature ids: PRO_0000003930
up seq anno feature ids: VAR_059186
up seq anno feature ids: VAR_059187
up seq anno feature ids: VAR_061064
up seq anno feature ids: VAR_061065
up seq anno feature ids: VAR_061066
up seq anno feature ids: VAR_061067

9606:SELENOF
gene id: 9606:SELENOF
uniprot id: O60613
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Mass
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non standard residue
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Mass
up seq anno labels: Mutagenesis Site
up seq anno labels: Non standard residue
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Does not affect protein folding and binding to UGGT1 or UGGT2.
up seq anno comments: In isoform 2.
up seq anno comments: Selenocysteine
up seq anno comments: Selenoprotein F
up seq anno feature ids: PRO_0000022307
up seq anno feature ids: VSP_014695
up seq anno feature ids: VSP_014696

9606:TRIR
gene id: 9606:TRIR
uniprot id: K7ELS0
uniprot id: K7EN60
uniprot id: Q9BQ61
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: N6-acetyllysine
up seq anno comments: Polar residues
up seq anno comments: Telomerase RNA component interacting RNase
up seq anno feature ids: PRO_0000280762

9606:C8orf76
gene id: 9606:C8orf76
uniprot id: Q96K31
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Sequence Conflict
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno comments: Uncharacterized protein C8orf76
up seq anno feature ids: PRO_0000225635

9606:HNRNPD
gene id: 9606:HNRNPD
uniprot id: Q14103
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Asymmetric dimethylarginine; alternate
up seq anno comments: Basic and acidic residues
up seq anno comments: Dimethylated arginine; alternate
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Heterogeneous nuclear ribonucleoprotein D0
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: N-acetylserine
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-methyllysine
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Omega-N-methylarginine; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: RRM 1
up seq anno comments: RRM 2
up seq anno comments: Removed
up seq anno feature ids: PRO_0000081849
up seq anno feature ids: VSP_005834
up seq anno feature ids: VSP_005835

9606:DCTN3
gene id: 9606:DCTN3
uniprot id: O75935
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Splice Variant
up seq anno comments: Dynactin subunit 3
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-acetylalanine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000225603
up seq anno feature ids: VSP_051961
up seq anno feature ids: VSP_051964

9606:VPS29
gene id: 9606:VPS29
uniprot id: A0A384MR19
uniprot id: F8VXU5
uniprot id: Q9UBQ0
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Calcineurin-like phosphoesterase
up seq anno comments: Decreases interaction with VPS35.
up seq anno comments: Disrupts interaction with TBC1D5.
up seq anno comments: Disrupts interaction with VPS35.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of in vitro protein phosphatase activity.
up seq anno comments: N6-acetyllysine
up seq anno comments: No effect on in vitro protein phosphatase activity.
up seq anno comments: Vacuolar protein sorting-associated protein 29
up seq anno feature ids: PRO_0000065894
up seq anno feature ids: VSP_004073

9606:ATP6V1G1
gene id: 9606:ATP6V1G1
uniprot id: O75348
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Secondary Structure
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno comments: N-acetylalanine
up seq anno comments: Removed
up seq anno comments: V-type proton ATPase subunit G 1
up seq anno feature ids: PRO_0000192897

9606:NDUFS1
gene id: 9606:NDUFS1
uniprot id: E5KRK5
uniprot id: P28331
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: 2Fe-2S ferredoxin-type
up seq anno comments: 4Fe-4S His(Cys)3-ligated-type
up seq anno comments: 4Fe-4S Mo/W bis-MGD-type
up seq anno comments: In MC1DN5; also found in a patient with muscular hypotonia; loss of catalytic activity.
up seq anno comments: In MC1DN5; loss of catalytic activity.
up seq anno comments: In MC1DN5; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: Mitochondrion
up seq anno comments: N6-acetyllysine
up seq anno comments: NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial
up seq anno feature ids: PRO_0000019968
up seq anno feature ids: VAR_018463
up seq anno feature ids: VAR_019532
up seq anno feature ids: VAR_019533
up seq anno feature ids: VAR_025511
up seq anno feature ids: VAR_069506
up seq anno feature ids: VAR_084177
up seq anno feature ids: VSP_042682
up seq anno feature ids: VSP_043727
up seq anno feature ids: VSP_043728
up seq anno feature ids: VSP_043729
up seq anno feature ids: VSP_045864

9606:NANOS2
gene id: 9606:NANOS2
uniprot id: P60321
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2HC 1
up seq anno comments: C2HC 2
up seq anno comments: Disordered
up seq anno comments: Nanos homolog 2
up seq anno comments: Nanos-type
up seq anno feature ids: PRO_0000207687
up seq anno feature ids: VAR_065246

9606:HTR4
gene id: 9606:HTR4
uniprot id: A0A2D3FAF9
uniprot id: Q13639
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Lipid Binding
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: 5-hydroxytryptamine receptor 4
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: In a patient with diffuse leukoencephalopathy with spheroids; unknown pathological significance.
up seq anno comments: In isoform 5-HT4(A).
up seq anno comments: In isoform 5-HT4(C).
up seq anno comments: In isoform 5-HT4(D).
up seq anno comments: In isoform 5-HT4(E).
up seq anno comments: In isoform 5-HT4(F).
up seq anno comments: In isoform 5-HT4(G).
up seq anno comments: In isoform 5-HT4(I).
up seq anno comments: In isoform 5-HT4c1.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: S-palmitoyl cysteine
up seq anno feature ids: PRO_0000068965
up seq anno feature ids: VAR_049364
up seq anno feature ids: VAR_067412
up seq anno feature ids: VSP_001845
up seq anno feature ids: VSP_001846
up seq anno feature ids: VSP_001847
up seq anno feature ids: VSP_001848
up seq anno feature ids: VSP_001849
up seq anno feature ids: VSP_001850
up seq anno feature ids: VSP_043316
up seq anno feature ids: VSP_047862

9606:ZNF385B
gene id: 9606:ZNF385B
uniprot id: Q569K4
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: Interaction with p53/TP53
up seq anno comments: Matrin-type 1
up seq anno comments: Matrin-type 2
up seq anno comments: Matrin-type 3
up seq anno comments: Matrin-type 4
up seq anno comments: Polar residues
up seq anno comments: Required for induction of apoptosis
up seq anno comments: Zinc finger protein 385B
up seq anno feature ids: PRO_0000191812
up seq anno feature ids: VAR_053765
up seq anno feature ids: VAR_076447
up seq anno feature ids: VSP_015972
up seq anno feature ids: VSP_015973
up seq anno feature ids: VSP_015974
up seq anno feature ids: VSP_015975
up seq anno feature ids: VSP_015976
up seq anno feature ids: VSP_015977
up seq anno feature ids: VSP_015978
up seq anno feature ids: VSP_015979
up seq anno feature ids: VSP_015980

9606:H2AC7
gene id: 9606:H2AC7
uniprot id: B2R5B6
uniprot id: P20671
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Mass
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Mass
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Blocks the inhibition of transcription by RPS6KA5/MSK1.
up seq anno comments: Citrulline; alternate
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
up seq anno comments: Histone H2A C-terminal
up seq anno comments: Histone H2A type 1-D
up seq anno comments: Histone H2A/H2B/H3
up seq anno comments: Monoisotopic with N-acetylserine.
up seq anno comments: N-acetylserine
up seq anno comments: N5-methylglutamine
up seq anno comments: N6-(2-hydroxyisobutyryl)lysine
up seq anno comments: N6-(2-hydroxyisobutyryl)lysine; alternate
up seq anno comments: N6-(beta-hydroxybutyryl)lysine; alternate
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-crotonyllysine; alternate
up seq anno comments: N6-glutaryllysine
up seq anno comments: N6-glutaryllysine; alternate
up seq anno comments: N6-lactoyllysine; alternate
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: Phosphoserine; by RPS6KA5
up seq anno comments: Phosphothreonine; by DCAF1
up seq anno comments: Removed
up seq anno comments: Symmetric dimethylarginine; by PRMT5; alternate
up seq anno feature ids: PRO_0000055234

9606:GALNT3
gene id: 9606:GALNT3
uniprot id: Q14435
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Catalytic subdomain A
up seq anno comments: Catalytic subdomain B
up seq anno comments: Cytoplasmic
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In HFTC1.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of ability to glycosylate FGF23.
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polypeptide N-acetylgalactosaminyltransferase 3
up seq anno comments: Ricin B-type lectin
up seq anno feature ids: PRO_0000059106
up seq anno feature ids: VAR_080832
up seq anno feature ids: VSP_011202
up seq anno feature ids: VSP_011203

9606:SMIM6
gene id: 9606:SMIM6
uniprot id: P0DI80
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: Small integral membrane protein 6
up seq anno feature ids: PRO_0000412225

9606:KDELR1
gene id: 9606:KDELR1
uniprot id: P24390
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Decreased binding to the sequence motif K-D-E-L.
up seq anno comments: ER lumen protein-retaining receptor 1
up seq anno comments: Helical
up seq anno comments: Important for recycling of cargo proteins with the sequence motif K-D-E-L from the Golgi to the endoplasmic reticulum
up seq anno comments: In isoform 2.
up seq anno comments: Inhibits coatomer/ARF-GAP recruitment, receptor redistribution, and intracellular retention of KDEL ligands.
up seq anno comments: Interaction with the K-D-E-L motif on target proteins
up seq anno comments: Loss of recycling together with cargo proteins containing the sequence motif K-D-E-L from the Golgi to the endoplasmic reticulum.
up seq anno comments: Lumenal
up seq anno comments: Phosphoserine; by PKA
up seq anno comments: Redistribution to the ER is not affected upon PKA inactivation.
up seq anno feature ids: PRO_0000194153
up seq anno feature ids: VSP_055484

9606:PPM1N
gene id: 9606:PPM1N
uniprot id: Q8N819
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: PPM-type phosphatase
up seq anno comments: Probable protein phosphatase 1N
up seq anno feature ids: PRO_0000349231
up seq anno feature ids: VSP_035233
up seq anno feature ids: VSP_035234
up seq anno feature ids: VSP_035235

9606:UBC
gene id: 9606:UBC
uniprot id: P0CG48
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Propeptide
up seq anno labels: Sequence Conflict
up seq anno labels: Site
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: (Microbial infection) ADP-ribosylthreonine
up seq anno comments: ADP-ribosylglycine
up seq anno comments: Abolishes CteC-catalyzed ADP-ribosylation.
up seq anno comments: Abolishes HLTF-mediated polyubiquitination of PCNA.
up seq anno comments: Essential for function
up seq anno comments: Glycyl lysine isopeptide (Gly-Lys) (interchain with K-? in acceptor proteins)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Interacts with activating enzyme
up seq anno comments: Loss of ADP-ribosylation.
up seq anno comments: Loss of DTX3L-mediated polyubiquitination of histone H3 and H4.
up seq anno comments: No effect on ADP-ribosylation, when associated with K-72.
up seq anno comments: No effect on ADP-ribosylation, when associated with K-74.
up seq anno comments: No effect on ADP-ribosylation.
up seq anno comments: No effect on HLTF-mediated polyubiquitination of PCNA.
up seq anno comments: Phosphomimetic mutant that binds and activates PRKN.
up seq anno comments: Phosphoserine; by PINK1
up seq anno comments: Prevents phosphorylation in case of mitophagy. Decreased localization of PRKN to mitochondria.
up seq anno comments: Ubiquitin
up seq anno comments: Ubiquitin-like 1
up seq anno comments: Ubiquitin-like 2
up seq anno comments: Ubiquitin-like 3
up seq anno comments: Ubiquitin-like 4
up seq anno comments: Ubiquitin-like 5
up seq anno comments: Ubiquitin-like 6
up seq anno comments: Ubiquitin-like 7
up seq anno comments: Ubiquitin-like 8
up seq anno comments: Ubiquitin-like 9
up seq anno feature ids: PRO_0000396178
up seq anno feature ids: PRO_0000396179
up seq anno feature ids: PRO_0000396180
up seq anno feature ids: PRO_0000396181
up seq anno feature ids: PRO_0000396182
up seq anno feature ids: PRO_0000396183
up seq anno feature ids: PRO_0000396184
up seq anno feature ids: PRO_0000396185
up seq anno feature ids: PRO_0000396186
up seq anno feature ids: PRO_0000396187

9606:CXorf51A
gene id: 9606:CXorf51A
uniprot id: A0A1B0GTR3
uniprot id: P0DPH9
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Disordered
up seq anno comments: Uncharacterized protein CXorf51A
up seq anno comments: Uncharacterized protein CXorf51B
up seq anno feature ids: PRO_0000444693
up seq anno feature ids: PRO_0000444694

9606:ABTB3
gene id: 9606:ABTB3
uniprot id: A6QL63
uniprot id: B3KVD0
uniprot id: B3KXB0
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: ANK
up seq anno comments: ANK 1
up seq anno comments: ANK 2
up seq anno comments: ANK 3
up seq anno comments: ANK 4
up seq anno comments: ANK 5
up seq anno comments: Ankyrin repeat and BTB/POZ domain-containing protein 3
up seq anno comments: BTB
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno feature ids: PRO_0000328827
up seq anno feature ids: VAR_042534
up seq anno feature ids: VAR_042535
up seq anno feature ids: VAR_055560
up seq anno feature ids: VSP_032801
up seq anno feature ids: VSP_032802
up seq anno feature ids: VSP_032803
up seq anno feature ids: VSP_045802
up seq anno feature ids: VSP_045803

9606:COTL1
gene id: 9606:COTL1
uniprot id: A0A384MTY2
uniprot id: Q14019
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: ADF-H
up seq anno comments: Abolishes 5LO-binding activity.
up seq anno comments: Abolishes actin-binding activity.
up seq anno comments: Coactosin-like protein
up seq anno comments: Flexible and important for F-actin binding
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: No effect on 5LO-binding activity.
up seq anno comments: Removed
up seq anno feature ids: PRO_0000214954

9606:GLB1
gene id: 9606:GLB1
uniprot id: B7Z6Q5
uniprot id: P16278
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Beta-galactosidase
up seq anno comments: Beta-galactosidase jelly roll
up seq anno comments: Disordered
up seq anno comments: Glycoside hydrolase 35 catalytic
up seq anno comments: In GM1-gangliosidosis; unclassified clinical type.
up seq anno comments: In GM1G1 and GM1G2; also in a patient with a slowly progressive GM1-gangliosidosis form; 36.2% of wild-type galactosidase activity.
up seq anno comments: In GM1G1 and GM1G2; decrease in galactosidase activity.
up seq anno comments: In GM1G1 and GM1G2; loss of galactosidase activity.
up seq anno comments: In GM1G1 and GM1G2; loss of galactosidase activity; severe mutation.
up seq anno comments: In GM1G1 and GM1G2; no effect on intrinsic catalytic activity; decreased protein stability; 8.4% of wild-type galactosidase activity; activity severely reduced in transfection with variant F-436.
up seq anno comments: In GM1G1 and GM1G3.
up seq anno comments: In GM1G1.
up seq anno comments: In GM1G1; 2.1% of wild-type galactosidase activity.
up seq anno comments: In GM1G1; 2.3% of wild-type galactosidase activity.
up seq anno comments: In GM1G1; 2.4% of wild-type galactosidase activity.
up seq anno comments: In GM1G1; 3.4% of wild-type galactosidase activity.
up seq anno comments: In GM1G1; 4.3% of wild-type galactosidase activity.
up seq anno comments: In GM1G1; 5.0% of wild-type galactosidase activity.
up seq anno comments: In GM1G1; complete lack of protein; loss of galactosidase activity.
up seq anno comments: In GM1G1; decrease in galactosidase activity.
up seq anno comments: In GM1G1; loss of galactosidase activity.
up seq anno comments: In GM1G1; loss of galactosidase activity; severe mutation.
up seq anno comments: In GM1G1; loss of galactosidase activity; severe mutation; causes a rapid degradation of the protein precursor.
up seq anno comments: In GM1G1; mild phenotype; unknown pathological significance; reduction of galactosidase activity.
up seq anno comments: In GM1G1; unknown pathological significance.
up seq anno comments: In GM1G1; with cardiac involvement in some patients; loss of galactosidase activity; severe mutation.
up seq anno comments: In GM1G1; with cardiac involvement in some patients; loss of galactosidase activity; severe mutation; causes a rapid degradation of the protein precursor.
up seq anno comments: In GM1G2 and GM1G1; loss of galactosidase activity.
up seq anno comments: In GM1G2 and GM1G3; 6.7% of wild-type galactosidase activity.
up seq anno comments: In GM1G2.
up seq anno comments: In GM1G2; 3.0% of wild-type galactosidase activity; the mutant protein is localized in the lysosomal-endosomal compartment.
up seq anno comments: In GM1G2; 7.4% of wild-type galactosidase activity.
up seq anno comments: In GM1G2; decrease in galactosidase activity.
up seq anno comments: In GM1G2; unknown pathological significance.
up seq anno comments: In GM1G3 and GM1G2.
up seq anno comments: In GM1G3 and MPS4B; mild form; 5.7% of wild-type galactosidase activity.
up seq anno comments: In GM1G3.
up seq anno comments: In GM1G3; decrease in galactosidase activity.
up seq anno comments: In GM1G3; mild phenotype.
up seq anno comments: In GM1G3; no effect on catalytic activity; decreased protein stability.
up seq anno comments: In GM1G3; originally classified as Morquio syndrome.

9606:FAM135A
gene id: 9606:FAM135A
uniprot id: D6RCC7
uniprot id: Q9P2D6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: DUF676
up seq anno comments: Disordered
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Polar residues
up seq anno comments: Protein FAM135A
up seq anno feature ids: PRO_0000314168
up seq anno feature ids: VAR_037854
up seq anno feature ids: VAR_037855
up seq anno feature ids: VAR_037856
up seq anno feature ids: VSP_030225
up seq anno feature ids: VSP_030226
up seq anno feature ids: VSP_030227
up seq anno feature ids: VSP_030230

9606:CD300A
gene id: 9606:CD300A
uniprot id: J3QKQ4
uniprot id: Q9UGN4
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: CMRF35-like molecule 8
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Ig-like V-type
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphotyrosine
up seq anno feature ids: PRO_0000014682
up seq anno feature ids: VAR_030797
up seq anno feature ids: VSP_010558
up seq anno feature ids: VSP_010559
up seq anno feature ids: VSP_041246

9606:TARP
gene id: 9606:TARP
uniprot id: A2JGV3
uniprot id: Q0VGM3
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: T-cell receptor gamma alternate reading frame protein
up seq anno feature ids: PRO_0000457484

9606:MKRN3
gene id: 9606:MKRN3
uniprot id: Q13064
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: C3H1-type 1
up seq anno comments: C3H1-type 2
up seq anno comments: C3H1-type 3
up seq anno comments: Disordered
up seq anno comments: In CPPB2.
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: Makorin-type Cys-His
up seq anno comments: Probable E3 ubiquitin-protein ligase makorin-3
up seq anno comments: RING-type
up seq anno feature ids: PRO_0000055959
up seq anno feature ids: VAR_035955
up seq anno feature ids: VAR_035956
up seq anno feature ids: VAR_070103
up seq anno feature ids: VAR_073023
up seq anno feature ids: VAR_073024
up seq anno feature ids: VAR_073025

9606:SPATA24
gene id: 9606:SPATA24
uniprot id: Q86W54
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Required for interaction with CBX5 and TBPL1
up seq anno comments: Spermatogenesis-associated protein 24
up seq anno feature ids: PRO_0000328979
up seq anno feature ids: VSP_032867

9606:CCDC30
gene id: 9606:CCDC30
uniprot id: Q5VVM6
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Coiled-coil domain-containing protein 30
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000336044
up seq anno feature ids: VAR_043472
up seq anno feature ids: VSP_033791
up seq anno feature ids: VSP_033792

9606:CCDC38
gene id: 9606:CCDC38
uniprot id: Q502W7
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Coiled-coil domain-containing protein 38
up seq anno comments: Disordered
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000234490
up seq anno feature ids: VAR_056778
up seq anno feature ids: VAR_056779

9606:NCK2
gene id: 9606:NCK2
uniprot id: A0A0S2Z4M6
uniprot id: E7ERP6
uniprot id: O43639
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes interaction with DOCK1.
up seq anno comments: Cytoplasmic protein NCK2
up seq anno comments: Disordered
up seq anno comments: N-acetylthreonine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Removed
up seq anno comments: SH2
up seq anno comments: SH3
up seq anno comments: SH3 1
up seq anno comments: SH3 2
up seq anno comments: SH3 3
up seq anno feature ids: PRO_0000096767

9606:RAB11A
gene id: 9606:RAB11A
uniprot id: P62491
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: (Microbial infection) N-beta-linked (GlcNAc) arginine
up seq anno comments: Abolishes SH3BP5-mediated guanine nucleotide exchange.
up seq anno comments: Constitutively active mutant. Decreases GTPase activity. Disrupts the trafficking of CDH1 to the plasma membrane and promotes accumulation of CDH1 in RAB11A endosomes in nonpolarized cells. Promotes mistargeting of CDH1 to the apical membrane in polarized cells.
up seq anno comments: Cysteine methyl ester
up seq anno comments: Decreases SH3BP5-mediated guanine nucleotide exchange.
up seq anno comments: Disordered
up seq anno comments: Dominant-negative mutant. Induces increased number of binucleated cells, indicating defects in cytokinesis. Inhibits the transport of NPC1L1 to the plama membrane. Disrupts the trafficking of CDH1 to the plasma membrane and promotes accumulation of CDH1 in RAB11A endosomes in nonpolarized cells. Promotes mistargeting of CDH1 to the apical membrane in polarized cells. Increased interaction with ATP9A. Loss of interaction with WDR44, decreased WDR44-positive tubules and loss of E-cadherin export.
up seq anno comments: Effector region
up seq anno comments: Impairs protein folding and decreases affinity for guanine nucleotides.
up seq anno comments: Impairs protein folding.
up seq anno comments: In isoform 2.
up seq anno comments: Mildly decreases SH3BP5-mediated guanine nucleotide exchange.
up seq anno comments: N-acetylglycine
up seq anno comments: Nearly abolishes SH3BP5-mediated guanine nucleotide exchange.
up seq anno comments: Ras-related protein Rab-11A
up seq anno comments: Removed
up seq anno comments: Removed in mature form
up seq anno comments: S-geranylgeranyl cysteine
up seq anno feature ids: PRO_0000121151
up seq anno feature ids: PRO_0000370807
up seq anno feature ids: VSP_046755

9606:NIPSNAP3A
gene id: 9606:NIPSNAP3A
uniprot id: Q9UFN0
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: N6-acetyllysine
up seq anno comments: Protein NipSnap homolog 3A
up seq anno feature ids: PRO_0000221152
up seq anno feature ids: VAR_020442

9606:MCM10
gene id: 9606:MCM10
uniprot id: Q7L590
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In IMD80; cell cycle defect and replication stress in patient-derived cells; loss of nuclear localization.
up seq anno comments: In IMD80; no effect on the formation of the replisome.
up seq anno comments: In isoform 2.
up seq anno comments: N-terminal domain
up seq anno comments: OB-fold domain
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Protein MCM10 homolog
up seq anno comments: Zinc finger-like 1
up seq anno comments: Zinc finger-like 2
up seq anno comments: Zinc finger-like 3
up seq anno feature ids: PRO_0000278320
up seq anno feature ids: VAR_030771
up seq anno feature ids: VAR_030772
up seq anno feature ids: VAR_030773
up seq anno feature ids: VAR_053836
up seq anno feature ids: VAR_053837
up seq anno feature ids: VAR_085769
up seq anno feature ids: VAR_085770
up seq anno feature ids: VSP_029951

9606:COX6B2
gene id: 9606:COX6B2
uniprot id: Q6YFQ2
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Motif
up seq anno labels: Region
up seq anno comments: CHCH
up seq anno comments: Cx10C motif
up seq anno comments: Cx9C motif
up seq anno comments: Cytochrome c oxidase subunit 6B2
up seq anno comments: Disordered
up seq anno feature ids: PRO_0000194921

9606:TMTC2
gene id: 9606:TMTC2
uniprot id: B7Z639
uniprot id: F8VSH2
uniprot id: Q8N394
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Transmembrane
up seq anno comments: DUF1736
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Protein O-mannosyl-transferase TMTC2
up seq anno comments: TPR
up seq anno comments: TPR 1
up seq anno comments: TPR 10
up seq anno comments: TPR 2
up seq anno comments: TPR 3
up seq anno comments: TPR 4
up seq anno comments: TPR 5
up seq anno comments: TPR 6
up seq anno comments: TPR 7
up seq anno comments: TPR 8
up seq anno comments: TPR 9
up seq anno comments: dolichyl-phosphate-mannose--protein mannosyltransferase
up seq anno feature ids: PRO_0000280290
up seq anno feature ids: PRO_5003379333
up seq anno feature ids: VAR_031113
up seq anno feature ids: VAR_031114
up seq anno feature ids: VAR_053852

9606:ZNF181
gene id: 9606:ZNF181
uniprot id: B4DM69
uniprot id: Q2M3W8
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 181
up seq anno feature ids: PRO_0000230666
up seq anno feature ids: VSP_017824
up seq anno feature ids: VSP_043416

9606:INTS7
gene id: 9606:INTS7
uniprot id: Q9NVH2
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Integrator complex subunit 7
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000259549
up seq anno feature ids: VAR_028963
up seq anno feature ids: VSP_021463
up seq anno feature ids: VSP_021464
up seq anno feature ids: VSP_043201

9606:NEK8
gene id: 9606:NEK8
uniprot id: Q86SG6
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: In NPHP9; a full-length mouse NEK8 construct containing the mutation shows a defect in ciliary localization with no apparent effect on ciliation, mitosis or centriole number.
up seq anno comments: Phosphothreonine; by autocatalysis
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: RCC1 1
up seq anno comments: RCC1 2
up seq anno comments: RCC1 3
up seq anno comments: RCC1 4
up seq anno comments: RCC1 5
up seq anno comments: Serine/threonine-protein kinase Nek8
up seq anno feature ids: PRO_0000086432
up seq anno feature ids: VAR_065769
up seq anno feature ids: VAR_065770
up seq anno feature ids: VAR_065771

9606:MRS2
gene id: 9606:MRS2
uniprot id: A0A0A0MQX2
uniprot id: B4DSN2
uniprot id: Q9HD23
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transit Peptide
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Magnesium transporter MRS2 homolog, mitochondrial
up seq anno comments: Mitochondrial intermembrane
up seq anno comments: Mitochondrial matrix
up seq anno comments: Mitochondrion
up seq anno feature ids: PRO_0000042837
up seq anno feature ids: VAR_023782
up seq anno feature ids: VAR_061129
up seq anno feature ids: VSP_016207
up seq anno feature ids: VSP_016208
up seq anno feature ids: VSP_016209
up seq anno feature ids: VSP_016210
up seq anno feature ids: VSP_055287

9606:DMRT2
gene id: 9606:DMRT2
uniprot id: Q05C20
uniprot id: Q5HYK2
uniprot id: Q9Y5R5
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: DM
up seq anno comments: Disordered
up seq anno comments: Doublesex- and mab-3-related transcription factor 2
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000207048
up seq anno feature ids: VAR_067719
up seq anno feature ids: VAR_067720
up seq anno feature ids: VSP_041247
up seq anno feature ids: VSP_041248
up seq anno feature ids: VSP_041249

9606:OR7E24
gene id: 9606:OR7E24
uniprot id: Q6IFN5
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 7E24
up seq anno feature ids: PRO_0000281642
up seq anno feature ids: VAR_053236
up seq anno feature ids: VAR_053237

9606:LIMK1
gene id: 9606:LIMK1
uniprot id: P53667
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes activation by ROCK1.
up seq anno comments: Abolishes kinase activity.
up seq anno comments: Abrogates kinase activity.
up seq anno comments: Disordered
up seq anno comments: Enhances actin aggregation.
up seq anno comments: Enhances kinase activity.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: LIM domain kinase 1
up seq anno comments: LIM zinc-binding 1
up seq anno comments: LIM zinc-binding 2
up seq anno comments: PDZ
up seq anno comments: Phosphomimetic mutant; enhances kinase activity.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by MAPKAPK2
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by ROCK1 and PAK1
up seq anno comments: Polar residues
up seq anno comments: Protein kinase
up seq anno comments: Reduces actin aggregation.
up seq anno comments: Reduces kinase activity.
up seq anno feature ids: PRO_0000075803
up seq anno feature ids: VAR_042246
up seq anno feature ids: VAR_042247
up seq anno feature ids: VAR_042248
up seq anno feature ids: VAR_050148
up seq anno feature ids: VSP_003125
up seq anno feature ids: VSP_003126
up seq anno feature ids: VSP_003127
up seq anno feature ids: VSP_043331

9606:PDGFD
gene id: 9606:PDGFD
uniprot id: Q9GZP0
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno comments: Abolishes cleavage into active form; when associated with A-247.
up seq anno comments: Abolishes cleavage into active form; when associated with A-249.
up seq anno comments: CUB
up seq anno comments: Cleavage
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Interchain
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Platelet-derived growth factor D, latent form
up seq anno comments: Platelet-derived growth factor D, receptor-binding form
up seq anno feature ids: PRO_0000250188
up seq anno feature ids: PRO_0000250189
up seq anno feature ids: VAR_036418
up seq anno feature ids: VAR_051563
up seq anno feature ids: VSP_020615

9606:ADAMTS20
gene id: 9606:ADAMTS20
uniprot id: P59510
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: A disintegrin and metalloproteinase with thrombospondin motifs 20
up seq anno comments: Disintegrin
up seq anno comments: GON
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Peptidase M12B
up seq anno comments: Spacer
up seq anno comments: TSP type-1 1
up seq anno comments: TSP type-1 10
up seq anno comments: TSP type-1 11
up seq anno comments: TSP type-1 12
up seq anno comments: TSP type-1 13
up seq anno comments: TSP type-1 14
up seq anno comments: TSP type-1 15
up seq anno comments: TSP type-1 2
up seq anno comments: TSP type-1 3
up seq anno comments: TSP type-1 4
up seq anno comments: TSP type-1 5
up seq anno comments: TSP type-1 6
up seq anno comments: TSP type-1 7
up seq anno comments: TSP type-1 8
up seq anno comments: TSP type-1 9
up seq anno feature ids: PRO_0000029206
up seq anno feature ids: PRO_0000029207
up seq anno feature ids: VAR_057088
up seq anno feature ids: VAR_057089
up seq anno feature ids: VAR_057090
up seq anno feature ids: VSP_007106
up seq anno feature ids: VSP_007107
up seq anno feature ids: VSP_007108
up seq anno feature ids: VSP_047084

9606:PDE4DIP
gene id: 9606:PDE4DIP
uniprot id: Q5VU43
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno comments: Breakpoint for insertion to form PDE4DIP-PDGFRB fusion protein
up seq anno comments: Disordered
up seq anno comments: In isoform 13.
up seq anno comments: In isoform 2 and isoform 13.
up seq anno comments: In isoform 2 and isoform 6.
up seq anno comments: In isoform 3 and isoform 12.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 7.
up seq anno comments: In isoform 8 and isoform 11.
up seq anno comments: In isoform 8 and isoform 9.
up seq anno comments: In isoform 9, isoform 10 and isoform 12.
up seq anno comments: Myomegalin
up seq anno comments: Olduvai
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000307690
up seq anno feature ids: VAR_036627
up seq anno feature ids: VAR_036628
up seq anno feature ids: VAR_036629
up seq anno feature ids: VAR_036630
up seq anno feature ids: VAR_051204
up seq anno feature ids: VAR_051205
up seq anno feature ids: VAR_051206
up seq anno feature ids: VAR_051207
up seq anno feature ids: VAR_051208
up seq anno feature ids: VAR_051209
up seq anno feature ids: VAR_051210
up seq anno feature ids: VAR_051211
up seq anno feature ids: VAR_051212
up seq anno feature ids: VAR_051213
up seq anno feature ids: VAR_051214
up seq anno feature ids: VAR_056951
up seq anno feature ids: VAR_056952
up seq anno feature ids: VAR_080232
up seq anno feature ids: VSP_028772
up seq anno feature ids: VSP_028773
up seq anno feature ids: VSP_028774
up seq anno feature ids: VSP_028775
up seq anno feature ids: VSP_028776
up seq anno feature ids: VSP_028777
up seq anno feature ids: VSP_028778
up seq anno feature ids: VSP_028779
up seq anno feature ids: VSP_028780
up seq anno feature ids: VSP_028781
up seq anno feature ids: VSP_028782
up seq anno feature ids: VSP_028783
up seq anno feature ids: VSP_059333
up seq anno feature ids: VSP_059334

9606:KCNK10
gene id: 9606:KCNK10
uniprot id: P57789
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: INTRAMEM
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: INTRAMEM
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In isoform B.
up seq anno comments: In isoform C.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Pore-forming; Name=Pore-forming 1
up seq anno comments: Pore-forming; Name=Pore-forming 2
up seq anno comments: Potassium channel subfamily K member 10
up seq anno feature ids: PRO_0000101758
up seq anno feature ids: VAR_052428
up seq anno feature ids: VAR_060216
up seq anno feature ids: VSP_006697
up seq anno feature ids: VSP_006698

9606:USP6
gene id: 9606:USP6
uniprot id: P35125
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Does not restore GAP activity in yeast complementation assay.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of enzyme activity.
up seq anno comments: Nucleophile
up seq anno comments: Polar residues
up seq anno comments: Proton acceptor
up seq anno comments: Rab-GAP TBC
up seq anno comments: USP
up seq anno comments: Ubiquitin carboxyl-terminal hydrolase 6
up seq anno feature ids: PRO_0000080625
up seq anno feature ids: VAR_051522
up seq anno feature ids: VAR_051523
up seq anno feature ids: VAR_059749
up seq anno feature ids: VSP_010878
up seq anno feature ids: VSP_010879
up seq anno feature ids: VSP_010880
up seq anno feature ids: VSP_010881

9606:AVL9
gene id: 9606:AVL9
uniprot id: Q8NBF6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Late secretory pathway protein AVL9 homolog
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: cDENN
up seq anno comments: dDENN
up seq anno comments: uDENN
up seq anno feature ids: PRO_0000247178
up seq anno feature ids: VAR_027083
up seq anno feature ids: VSP_019943

9606:SLC9A5
gene id: 9606:SLC9A5
uniprot id: Q14940
uniprot id: Q9NSW9
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Abolishes SLC9A5 phosphorylation by CSNK2A1 and abolishes CSNK2A1-mediated binding of ARRB2; when associated with A-702; A-709; A-711 and A-712.
up seq anno comments: Abolishes SLC9A5 phosphorylation by CSNK2A1 and abolishes CSNK2A1-mediated binding of ARRB2; when associated with A-702; A-709; A-711 and A-714.
up seq anno comments: Abolishes SLC9A5 phosphorylation by CSNK2A1 and abolishes CSNK2A1-mediated binding of ARRB2; when associated with A-702; A-709; A-712 and A-714.
up seq anno comments: Abolishes SLC9A5 phosphorylation by CSNK2A1 and abolishes CSNK2A1-mediated binding of ARRB2; when associated with A-702; A-711; A-712 and A-714.
up seq anno comments: Abolishes SLC9A5 phosphorylation by CSNK2A1 and abolishes CSNK2A1-mediated binding of ARRB2; when associated with A-709; A-711; A-712 and A-714.
up seq anno comments: Abolishes SLC9A5 phosphorylation by CSNK2A1 and abolishes CSNK2A1-mediated binding of ARRB2; when associated with D-702; D-709; D-711 and D-712.
up seq anno comments: Abolishes SLC9A5 phosphorylation by CSNK2A1 and abolishes CSNK2A1-mediated binding of ARRB2; when associated with D-702; D-709; D-711 and D-714.
up seq anno comments: Abolishes SLC9A5 phosphorylation by CSNK2A1 and abolishes CSNK2A1-mediated binding of ARRB2; when associated with D-702; D-709; D-712 and D-714.
up seq anno comments: Abolishes SLC9A5 phosphorylation by CSNK2A1 and abolishes CSNK2A1-mediated binding of ARRB2; when associated with D-702; D-711; D-712 and D-714.
up seq anno comments: Abolishes SLC9A5 phosphorylation by CSNK2A1 and abolishes CSNK2A1-mediated binding of ARRB2; when associated with D-709; D-711; D-712 and D-714.
up seq anno comments: Acidic residues
up seq anno comments: Basic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Does not disrupt the binding of ARRB2. Does not affect endocytosis of SLC9A5.
up seq anno comments: Does not disrupt the binding of ARRB2. Impaired endocytosis of SLC9A5.
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=10
up seq anno comments: Helical; Name=11
up seq anno comments: Helical; Name=12
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: Helical; Name=8
up seq anno comments: Helical; Name=9
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: Required for interaction with ARRB2
up seq anno comments: Sodium/hydrogen exchanger 5
up seq anno feature ids: PRO_0000052360

9606:ATF6B
gene id: 9606:ATF6B
uniprot id: A0A1U9X796
uniprot id: Q6AZW6
uniprot id: Q99941
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: BZIP
up seq anno comments: Basic motif
up seq anno comments: Cleavage; by MBTPS1
up seq anno comments: Cyclic AMP-dependent transcription factor ATF-6 beta
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: Important for cleavage by MBTPS2
up seq anno comments: In isoform 1.
up seq anno comments: Leucine-zipper
up seq anno comments: Lumenal
up seq anno comments: N-acetylalanine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Processed cyclic AMP-dependent transcription factor ATF-6 beta
up seq anno comments: Removed
up seq anno comments: Transcription activation
up seq anno comments: bZIP
up seq anno feature ids: PRO_0000076590
up seq anno feature ids: PRO_0000296201
up seq anno feature ids: VSP_000593

9606:PIAS3
gene id: 9606:PIAS3
uniprot id: B3KNI3
uniprot id: Q9Y6X2
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Disordered
up seq anno comments: E3 SUMO-protein ligase PIAS3
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Interaction with CCAR2
up seq anno comments: LXXLL motif
up seq anno comments: PINIT
up seq anno comments: SAP
up seq anno comments: SP-RING-type
up seq anno comments: SUMO1-binding
up seq anno feature ids: PRO_0000218979
up seq anno feature ids: VAR_050535

9606:KATNAL2
gene id: 9606:KATNAL2
uniprot id: K7EIJ8
uniprot id: Q8IYT4
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: AAA+ ATPase
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Katanin p60 ATPase-containing subunit A-like 2
up seq anno comments: LisH
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000333792
up seq anno feature ids: VAR_043160
up seq anno feature ids: VSP_033523

9606:ETF1
gene id: 9606:ETF1
uniprot id: B7Z7P8
uniprot id: P62495
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 4-hydroxylysine
up seq anno comments: Abolishes methylation by N6AMT1.
up seq anno comments: Eukaryotic peptide chain release factor subunit 1
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In AAQ mutant; abolished ability to mediate translation termination. Can recognize stop codons in ribosomal A-site, but is unable to catalyze peptidyl-tRNA hydrolysis, promoting ribosome collisions.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of hydroxylation.
up seq anno comments: N-acetylalanine
up seq anno comments: N5-methylglutamine
up seq anno comments: NIKS motif; plays an important role in translational termination
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno comments: eRF1
up seq anno feature ids: PRO_0000143138
up seq anno feature ids: VSP_056189

9606:PLA2G10
gene id: 9606:PLA2G10
uniprot id: O15496
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Propeptide
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Propeptide
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Group 10 secretory phospholipase A2
up seq anno comments: Loss of PLA2 activity toward PAF. Impairs anti-adenoviral activity.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000022764
up seq anno feature ids: PRO_0000022765

9606:ZNF775
gene id: 9606:ZNF775
uniprot id: Q96BV0
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Zinc finger protein 775
up seq anno feature ids: PRO_0000280441
up seq anno feature ids: VAR_059937

9606:GYPB
gene id: 9606:GYPB
uniprot id: P06028
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Glycophorin-B
up seq anno comments: Helical
up seq anno comments: In M(v) antigen.
up seq anno comments: In Mit antigen.
up seq anno comments: In S antigen and Mit antigen.
up seq anno comments: In isoform 2.
up seq anno comments: In s(D) antigen.
up seq anno comments: Not glycosylated
up seq anno comments: O-linked (GalNAc...) serine
up seq anno comments: O-linked (GalNAc...) threonine
up seq anno feature ids: PRO_0000012136
up seq anno feature ids: VAR_003192
up seq anno feature ids: VAR_030785
up seq anno feature ids: VAR_047948
up seq anno feature ids: VAR_047949
up seq anno feature ids: VAR_047950
up seq anno feature ids: VSP_047824

9606:CWC25
gene id: 9606:CWC25
uniprot id: Q9NXE8
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Pre-mRNA-splicing factor CWC25 homolog
up seq anno feature ids: PRO_0000288865
up seq anno feature ids: VSP_025797

9606:STMN1
gene id: 9606:STMN1
uniprot id: A0A140VJW2
uniprot id: P16949
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Domain Extent
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Domain Extent
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-methyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CDK1, MAPK1 and MAPK3
up seq anno comments: Phosphoserine; by PKA
up seq anno comments: Removed
up seq anno comments: SLD
up seq anno comments: Stathmin
up seq anno feature ids: PRO_0000182389
up seq anno feature ids: VSP_041377

9606:CR2
gene id: 9606:CR2
uniprot id: P20023
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Complement receptor type 2
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform B.
up seq anno comments: In isoform C and isoform D.
up seq anno comments: In isoform D.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No effect on affinity for C3.
up seq anno comments: Reduced affinity for C3.
up seq anno comments: Strongly reduced affinity for C3.
up seq anno comments: Sushi 1
up seq anno comments: Sushi 10
up seq anno comments: Sushi 11
up seq anno comments: Sushi 12
up seq anno comments: Sushi 13
up seq anno comments: Sushi 14
up seq anno comments: Sushi 15
up seq anno comments: Sushi 2
up seq anno comments: Sushi 3
up seq anno comments: Sushi 4
up seq anno comments: Sushi 5
up seq anno comments: Sushi 6
up seq anno comments: Sushi 7
up seq anno comments: Sushi 8
up seq anno comments: Sushi 9
up seq anno feature ids: PRO_0000006010
up seq anno feature ids: VAR_016164
up seq anno feature ids: VAR_016165
up seq anno feature ids: VAR_016166
up seq anno feature ids: VSP_001208
up seq anno feature ids: VSP_001209
up seq anno feature ids: VSP_001210
up seq anno feature ids: VSP_001211

9606:PTGR3
gene id: 9606:PTGR3
uniprot id: Q4G1C4
uniprot id: Q8N4Q0
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Enoyl reductase (ER)
up seq anno comments: In isoform 2.
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Prostaglandin reductase 3
up seq anno feature ids: PRO_0000223467
up seq anno feature ids: VAR_048202
up seq anno feature ids: VSP_055796

9606:XKR5
gene id: 9606:XKR5
uniprot id: Q6UX68
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno comments: XK-related protein 5
up seq anno feature ids: PRO_0000190782
up seq anno feature ids: VSP_059371
up seq anno feature ids: VSP_059372

9606:CHRFAM7A
gene id: 9606:CHRFAM7A
uniprot id: A0A0A6YYA8
uniprot id: P36544
uniprot id: Q494W8
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Mass
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mass
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: 115-fold more potently inhibited by the alpha-conotoxin ImI; but no change in inhibition by the alpha-conotoxin ImII.
up seq anno comments: Associated with receptor activation
up seq anno comments: CHRNA7-FAM7A fusion protein
up seq anno comments: Cytoplasmic
up seq anno comments: Essential for TMEM35A/NACHO-mediated proper subunit assembly and trafficking to cell membrane
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Neuronal acetylcholine receptor subunit alpha-7
up seq anno comments: Neurotransmitter-gated ion-channel ligand-binding
up seq anno comments: Neurotransmitter-gated ion-channel transmembrane
up seq anno feature ids: PRO_0000000366
up seq anno feature ids: PRO_0000232101
up seq anno feature ids: VSP_043019
up seq anno feature ids: VSP_058107
up seq anno feature ids: VSP_058108

9606:GCHFR
gene id: 9606:GCHFR
uniprot id: P30047
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: GTP cyclohydrolase 1 feedback regulatory protein
up seq anno comments: In isoform 2.
up seq anno comments: Removed
up seq anno feature ids: PRO_0000189675
up seq anno feature ids: VSP_055592

9606:CNTFR
gene id: 9606:CNTFR
uniprot id: P26992
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Lipid Binding
up seq anno labels: Motif
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Ciliary neurotrophic factor receptor subunit alpha
up seq anno comments: Disordered
up seq anno comments: Fibronectin type-III 1
up seq anno comments: Fibronectin type-III 2
up seq anno comments: GPI-anchor amidated serine
up seq anno comments: Ig-like C2-type
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: Removed in mature form
up seq anno comments: WSXWS motif
up seq anno feature ids: PRO_0000010991
up seq anno feature ids: PRO_0000010992

9606:NELL1
gene id: 9606:NELL1
uniprot id: B3KXR2
uniprot id: F5H6I3
uniprot id: J3KNC5
uniprot id: K9UUD5
uniprot id: Q92832
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: EGF-like
up seq anno comments: EGF-like 1; calcium-binding
up seq anno comments: EGF-like 2; calcium-binding
up seq anno comments: EGF-like 3
up seq anno comments: EGF-like 4; calcium-binding
up seq anno comments: EGF-like 5; calcium-binding
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Laminin G-like
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Protein kinase C-binding protein NELL1
up seq anno comments: VWFC
up seq anno comments: VWFC 1
up seq anno comments: VWFC 2
up seq anno feature ids: PRO_0000007664
up seq anno feature ids: PRO_5002790203
up seq anno feature ids: PRO_5003327275
up seq anno feature ids: PRO_5014098590
up seq anno feature ids: VAR_020167
up seq anno feature ids: VAR_035834
up seq anno feature ids: VAR_047828
up seq anno feature ids: VAR_047829
up seq anno feature ids: VAR_047830
up seq anno feature ids: VSP_039954

9606:SMIM10L2A
gene id: 9606:SMIM10L2A
uniprot id: P0DMW4
uniprot id: P0DMW5
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno comments: Small integral membrane protein 10-like protein 2A
up seq anno comments: Small integral membrane protein 10-like protein 2B
up seq anno feature ids: PRO_0000433232
up seq anno feature ids: PRO_0000433233

9606:MPP1
gene id: 9606:MPP1
uniprot id: B4E325
uniprot id: Q00013
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 55 kDa erythrocyte membrane protein
up seq anno comments: Guanylate kinase-like
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Interaction with PALS1
up seq anno comments: N-acetylthreonine
up seq anno comments: PDZ
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno comments: SH3
up seq anno feature ids: PRO_0000094565
up seq anno feature ids: VAR_011914
up seq anno feature ids: VSP_042675
up seq anno feature ids: VSP_044634

9606:RPN2
gene id: 9606:RPN2
uniprot id: P04844
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000022244
up seq anno feature ids: VAR_054040
up seq anno feature ids: VSP_043051
up seq anno feature ids: VSP_043052

9606:HEPHL1
gene id: 9606:HEPHL1
uniprot id: Q6MZM0
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Ferroxidase HEPHL1
up seq anno comments: Helical
up seq anno comments: In HJDD; due to a nucleotide substitution that affects a canonical splice site; patient cells contain normally spliced transcripts corresponding to protein variant T-355 but also transcripts lacking exon 5 and corresponding to protein variant 271-L--A-355 del.
up seq anno comments: In HJDD; due to a nucleotide substitution that affects a canonical splice site; patient cells contain transcripts lacking exon 5 and corresponding to protein variant 271-L--A-355 del but also normally spliced transcripts corresponding to protein variant T-355; loss of ferroxidase activity.
up seq anno comments: In HJDD; loss of ferroxidase activity.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Plastocyanin-like 1
up seq anno comments: Plastocyanin-like 2
up seq anno comments: Plastocyanin-like 3
up seq anno comments: Plastocyanin-like 4
up seq anno comments: Plastocyanin-like 5
up seq anno comments: Plastocyanin-like 6
up seq anno comments: type 1 copper site
up seq anno comments: type 2 copper site
up seq anno comments: type 3 copper site
up seq anno feature ids: PRO_0000346771
up seq anno feature ids: VAR_045903
up seq anno feature ids: VAR_045904
up seq anno feature ids: VAR_082699
up seq anno feature ids: VAR_082700
up seq anno feature ids: VAR_082701

9606:OR51S1
gene id: 9606:OR51S1
uniprot id: A0A126GWN3
uniprot id: Q8NGJ8
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 51S1
up seq anno feature ids: PRO_0000150762
up seq anno feature ids: VAR_024145
up seq anno feature ids: VAR_034329
up seq anno feature ids: VAR_034330
up seq anno feature ids: VAR_053331

9606:PPIL1
gene id: 9606:PPIL1
uniprot id: Q9Y3C6
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: In PCH14.
up seq anno comments: In PCH14; reduced protein levels in homozygous patient's fibroblasts compared to heterozygous or wild-type cells.
up seq anno comments: In PCH14; strongly reduced interaction with SNW1; slightly reduced protein levels compared to wild-type, after transfection in HEK293T cell line, reduced thermal stability and increased aggregation propensity in vitro; in transgenic knockin mice, produces a pontocerebellar hypoplasia-like phenotype.
up seq anno comments: In PCH14; strongly reduced interaction with SNW1; strongly reduced protein levels in homozygous patient's fibroblasts compared to heterozygous or wild-type cells; in transgenic knockin mice, produces a pontocerebellar hypoplasia-like phenotype.
up seq anno comments: In PCH14; unknown pathological significance.
up seq anno comments: In PCH14; unknown pathological significance; reduced interaction with SNW1; no effect on protein expression level, but shows reduced thermal stability and increased aggregation propensity in vitro.
up seq anno comments: In PCH14; unknown pathological significance; strongly reduced protein levels compared to wild-type after transfection in HEK293T cell line.
up seq anno comments: Loss of isomerase activity. Can rescue splicing defects when transfected in knockout cells.
up seq anno comments: PPIase cyclophilin-type
up seq anno comments: Peptidyl-prolyl cis-trans isomerase-like 1
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000064164
up seq anno feature ids: VAR_051772
up seq anno feature ids: VAR_085506
up seq anno feature ids: VAR_085507
up seq anno feature ids: VAR_085508
up seq anno feature ids: VAR_085509
up seq anno feature ids: VAR_085510
up seq anno feature ids: VAR_085511
up seq anno feature ids: VAR_085512
up seq anno feature ids: VAR_085513
up seq anno feature ids: VAR_085514

9606:ZSWIM8
gene id: 9606:ZSWIM8
uniprot id: A7E2V4
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2, isoform 3 and isoform 5.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: SWIM-type
up seq anno comments: Zinc finger SWIM domain-containing protein 8
up seq anno feature ids: PRO_0000311802
up seq anno feature ids: VSP_029586
up seq anno feature ids: VSP_029587
up seq anno feature ids: VSP_029590
up seq anno feature ids: VSP_029591

9606:RAX
gene id: 9606:RAX
uniprot id: Q9Y2V3
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Homeobox
up seq anno comments: In MCOPS16; does not affect nuclear localization; reduces DNA binding activity.
up seq anno comments: In MCOPS16; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: Nuclear localization signal
up seq anno comments: OAR
up seq anno comments: Octapeptide motif
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Retinal homeobox protein Rx
up seq anno feature ids: PRO_0000049276
up seq anno feature ids: VAR_020150
up seq anno feature ids: VAR_034905
up seq anno feature ids: VAR_075630
up seq anno feature ids: VAR_075631
up seq anno feature ids: VAR_075632
up seq anno feature ids: VSP_053558
up seq anno feature ids: VSP_053559

9606:CCN4
gene id: 9606:CCN4
uniprot id: O95388
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: CCN family member 4
up seq anno comments: CTCK
up seq anno comments: IGFBP N-terminal
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: TSP type-1
up seq anno comments: VWFC
up seq anno feature ids: PRO_0000014406
up seq anno feature ids: VAR_061265
up seq anno feature ids: VSP_008008
up seq anno feature ids: VSP_008009
up seq anno feature ids: VSP_042010
up seq anno feature ids: VSP_045958
up seq anno feature ids: VSP_045959
up seq anno feature ids: VSP_047706
up seq anno feature ids: VSP_047707

9606:TECPR2
gene id: 9606:TECPR2
uniprot id: O15040
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno comments: TECPR 1
up seq anno comments: TECPR 2
up seq anno comments: TECPR 3
up seq anno comments: TECPR 4
up seq anno comments: TECPR 5
up seq anno comments: TECPR 6
up seq anno comments: Tectonin beta-propeller repeat-containing protein 2
up seq anno comments: WD 1
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno comments: WD 7
up seq anno feature ids: PRO_0000050747
up seq anno feature ids: VAR_046529
up seq anno feature ids: VAR_046530
up seq anno feature ids: VAR_046531
up seq anno feature ids: VAR_046532
up seq anno feature ids: VSP_044793
up seq anno feature ids: VSP_044794

9606:CYYR1
gene id: 9606:CYYR1
uniprot id: Q96J86
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cysteine and tyrosine-rich protein 1
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000021054
up seq anno feature ids: VAR_044042
up seq anno feature ids: VAR_044043
up seq anno feature ids: VSP_034245
up seq anno feature ids: VSP_057143
up seq anno feature ids: VSP_057144
up seq anno feature ids: VSP_057145
up seq anno feature ids: VSP_057146
up seq anno feature ids: VSP_057147
up seq anno feature ids: VSP_057148
up seq anno feature ids: VSP_057149
up seq anno feature ids: VSP_057150

9606:BCL6
gene id: 9606:BCL6
uniprot id: B5B0A5
uniprot id: P41182
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Abolished ubiquitination by the SCF(FBXL17) complex.
up seq anno comments: Abolishes DNA-binding and transcriptional repression activity, no effect on nuclear localization and interaction with HDAC5.
up seq anno comments: Abolishes DNA-binding and transcriptional repression activity, perturbs nuclear localization. No effect on interaction with HDAC5.
up seq anno comments: Abolishes acetylation. No effect on interaction with MTA3, NCOR1 and NCOR2.
up seq anno comments: Abolishes interaction with HDAC2 and MTA3 as well as transcriptional repressor and transforming activities. Abolishes interaction with NCOR2 and HDAC2, no effect on interaction with CTBP1 and transcriptional autoinhibition; when associated with K-21 and A-116.
up seq anno comments: Abolishes interaction with NCOR2 and HDAC2, no effect on interaction with CTBP1 and transcriptional autoinhibition; when associated with A-116 and 376-Q--Q-379.
up seq anno comments: Abolishes interaction with NCOR2 and HDAC2, no effect on interaction with CTBP1 and transcriptional autoinhibition; when associated with K-21 and 376-Q--Q-379.
up seq anno comments: B-cell lymphoma 6 protein
up seq anno comments: BTB
up seq anno comments: C2H2-type
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: Decrease in phosphorylation by MAPK1.
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: N6-acetyllysine
up seq anno comments: No effect on DNA-binding, nuclear localization, transcriptional repression activity and interaction with HDAC5.
up seq anno comments: No effect on acetylation.
up seq anno comments: No effect on interaction with PIN1.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by MAPK1
up seq anno comments: Polar residues
up seq anno comments: Required for interaction with NuRD complex and for transcriptional repressor activity
up seq anno comments: Strongly reduces interaction with PIN1.
up seq anno feature ids: PRO_0000047098
up seq anno feature ids: VAR_014825
up seq anno feature ids: VAR_019970
up seq anno feature ids: VAR_052709
up seq anno feature ids: VSP_042709

9606:LCTL
gene id: 9606:LCTL
uniprot id: Q6UWM7
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Lactase-like protein
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000042251
up seq anno feature ids: VAR_023586
up seq anno feature ids: VAR_049297
up seq anno feature ids: VSP_054596

9606:OR2M5
gene id: 9606:OR2M5
uniprot id: A3KFT3
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Found in a renal cell carcinoma sample; somatic mutation.
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 2M5
up seq anno feature ids: PRO_0000293719
up seq anno feature ids: VAR_064739

9606:GOLGA8H
gene id: 9606:GOLGA8H
uniprot id: P0CJ92
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Golgin subfamily A member 8H
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000405257

9606:SLPI
gene id: 9606:SLPI
uniprot id: P03973
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Strand
up seq anno comments: Antileukoproteinase
up seq anno comments: Elastase inhibitory domain
up seq anno comments: Increases inhibition of chymotrypsin.
up seq anno comments: No significant effect on inhibition of elastase, trypsin and chymotrypsin.
up seq anno comments: Reactive bond for chymotrypsin, trypsin and elastase
up seq anno comments: Reduced inhibition of elastase. Strongly reduced inhibition of chymotrypsin and trypsin.
up seq anno comments: Strongly reduced inhibition of elastase. Abolishes inhibition of trypsin.
up seq anno comments: WAP 1
up seq anno comments: WAP 2
up seq anno feature ids: PRO_0000041355

9606:POLR3H
gene id: 9606:POLR3H
uniprot id: Q9Y535
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: DNA-directed RNA polymerase III subunit RPC8
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000073994
up seq anno feature ids: VSP_007067

9606:MEIOC
gene id: 9606:MEIOC
uniprot id: A2RUB1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: Meiosis-specific coiled-coil domain-containing protein MEIOC
up seq anno feature ids: PRO_0000325800
up seq anno feature ids: VAR_039917
up seq anno feature ids: VAR_039918
up seq anno feature ids: VSP_038971
up seq anno feature ids: VSP_038972
up seq anno feature ids: VSP_038973

9606:CFAP45
gene id: 9606:CFAP45
uniprot id: Q9UL16
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Cilia- and flagella-associated protein 45
up seq anno comments: Disordered
up seq anno comments: In HTX11; loss of panaxonemal expression in respiratory cilia and in sperm flagella.
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000089410
up seq anno feature ids: VAR_059600
up seq anno feature ids: VAR_085330
up seq anno feature ids: VAR_085331
up seq anno feature ids: VSP_056614

9606:CAMK4
gene id: 9606:CAMK4
uniprot id: Q16566
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Autoinhibitory domain
up seq anno comments: Basic and acidic residues
up seq anno comments: Calcium/calmodulin-dependent protein kinase type IV
up seq anno comments: Calmodulin-binding
up seq anno comments: Disordered
up seq anno comments: Fully active Ca2+/CaM-independent kinase; when associated with 309-A--A-312. Loss of interaction with PPP2CA/PPP2CB.
up seq anno comments: Fully active Ca2+/CaM-independent kinase; when associated with 320-A-A-321.
up seq anno comments: In a lung adenocarcinoma sample; somatic mutation.
up seq anno comments: In a lung large cell carcinoma sample; somatic mutation.
up seq anno comments: Increases phosphorylation of CREB1 2-fold. Decreases total O-linked glycosylation 2-fold. Increases ATP-binding affinity.
up seq anno comments: Loss of activation by CaMKK1 or CaMKK2.
up seq anno comments: Loss of activity.
up seq anno comments: Loss of activity; dominant negative form.
up seq anno comments: Loss of phosphorylation of CREB1.
up seq anno comments: O-linked (GlcNAc) serine
up seq anno comments: O-linked (GlcNAc) threonine
up seq anno comments: PP2A-binding
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by autocatalysis
up seq anno comments: Phosphothreonine; by CaMKK1 and CaMKK2
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000086106
up seq anno feature ids: VAR_040604
up seq anno feature ids: VAR_040605
up seq anno feature ids: VAR_040606
up seq anno feature ids: VAR_040607

9606:SYT13
gene id: 9606:SYT13
uniprot id: Q7L8C5
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: C2 1
up seq anno comments: C2 2
up seq anno comments: Cytoplasmic
up seq anno comments: Helical
up seq anno comments: Synaptotagmin-13
up seq anno comments: Vesicular
up seq anno feature ids: PRO_0000183975

9606:RAMP2
gene id: 9606:RAMP2
uniprot id: O60895
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Receptor activity-modifying protein 2
up seq anno feature ids: PRO_0000030172
up seq anno feature ids: VSP_055838

9606:HYCC1
gene id: 9606:HYCC1
uniprot id: Q9BYI3
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Hyccin
up seq anno comments: In HLD5; induces misfolding and degradation, leading to destabilization of the PI4K complex.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000080005
up seq anno feature ids: VAR_030647
up seq anno feature ids: VAR_075100
up seq anno feature ids: VAR_079751
up seq anno feature ids: VSP_023126
up seq anno feature ids: VSP_058128
up seq anno feature ids: VSP_058129

9606:DSG1
gene id: 9606:DSG1
uniprot id: Q02413
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cadherin 1
up seq anno comments: Cadherin 2
up seq anno comments: Cadherin 3
up seq anno comments: Cadherin 4
up seq anno comments: Cytoplasmic
up seq anno comments: Desmoglein repeat 1
up seq anno comments: Desmoglein repeat 2
up seq anno comments: Desmoglein repeat 3
up seq anno comments: Desmoglein repeat 4
up seq anno comments: Desmoglein repeat 5
up seq anno comments: Desmoglein-1
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000003837
up seq anno feature ids: PRO_0000003838
up seq anno feature ids: VAR_020364
up seq anno feature ids: VAR_024385
up seq anno feature ids: VAR_024386
up seq anno feature ids: VAR_055573
up seq anno feature ids: VAR_055574
up seq anno feature ids: VAR_055575
up seq anno feature ids: VAR_055576
up seq anno feature ids: VAR_055577
up seq anno feature ids: VAR_060248
up seq anno feature ids: VAR_060249
up seq anno feature ids: VSP_055930

9606:ZNF721
gene id: 9606:ZNF721
uniprot id: Q8TF20
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 12
up seq anno comments: C2H2-type 13; degenerate
up seq anno comments: C2H2-type 14
up seq anno comments: C2H2-type 15
up seq anno comments: C2H2-type 16
up seq anno comments: C2H2-type 17
up seq anno comments: C2H2-type 18
up seq anno comments: C2H2-type 19
up seq anno comments: C2H2-type 1; degenerate
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 20; degenerate
up seq anno comments: C2H2-type 21; degenerate
up seq anno comments: C2H2-type 22
up seq anno comments: C2H2-type 23
up seq anno comments: C2H2-type 24; degenerate
up seq anno comments: C2H2-type 25
up seq anno comments: C2H2-type 26
up seq anno comments: C2H2-type 27
up seq anno comments: C2H2-type 28
up seq anno comments: C2H2-type 29
up seq anno comments: C2H2-type 30
up seq anno comments: C2H2-type 3; degenerate
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5; degenerate
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: Zinc finger protein 721
up seq anno feature ids: PRO_0000306879
up seq anno feature ids: VSP_040879

9606:RASA3
gene id: 9606:RASA3
uniprot id: Q14644
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: Btk-type
up seq anno comments: C2 1
up seq anno comments: C2 2
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylalanine
up seq anno comments: No binding to IP4 and loss of plasma membrane localization.
up seq anno comments: PH
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Ras GTPase-activating protein 3
up seq anno comments: Ras-GAP
up seq anno comments: Removed
up seq anno feature ids: PRO_0000056642
up seq anno feature ids: VSP_056141

9606:NPIPB9
gene id: 9606:NPIPB9
uniprot id: F8VUA1
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Region
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Polar residues

9606:IL22RA1
gene id: 9606:IL22RA1
uniprot id: Q8N6P7
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Fibronectin type-III 1
up seq anno comments: Fibronectin type-III 2
up seq anno comments: Helical
up seq anno comments: Interleukin-22 receptor subunit alpha-1
up seq anno comments: Loss of response to IL22.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Strongly reduced response to IL22.
up seq anno feature ids: PRO_0000324320
up seq anno feature ids: VAR_039699
up seq anno feature ids: VAR_039700
up seq anno feature ids: VAR_039701
up seq anno feature ids: VAR_039702
up seq anno feature ids: VAR_039703
up seq anno feature ids: VAR_039704

9606:OR5M3
gene id: 9606:OR5M3
uniprot id: Q8NGP4
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 5M3
up seq anno feature ids: PRO_0000150605
up seq anno feature ids: VAR_057549
up seq anno feature ids: VAR_057550

9606:POP1
gene id: 9606:POP1
uniprot id: Q96F88
uniprot id: Q99575
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In ANXD2.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: POPLD
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pop1 N-terminal
up seq anno comments: Ribonucleases P/MRP protein subunit POP1
up seq anno feature ids: PRO_0000058513
up seq anno feature ids: VAR_036232
up seq anno feature ids: VAR_057746
up seq anno feature ids: VAR_057747
up seq anno feature ids: VAR_057748
up seq anno feature ids: VAR_057749
up seq anno feature ids: VAR_067755
up seq anno feature ids: VAR_078770
up seq anno feature ids: VAR_078771

9606:COL18A1
gene id: 9606:COL18A1
uniprot id: P39060
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Cell attachment site
up seq anno comments: Collagen alpha-1(XVIII) chain
up seq anno comments: Disordered
up seq anno comments: Endostatin
up seq anno comments: FZ
up seq anno comments: In GLCC; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Laminin G-like
up seq anno comments: May be associated with increased risk for prostate cancer; results in decreased affinity for laminin.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Non-collagenous domain 1
up seq anno comments: Non-collagenous domain 1 association domain
up seq anno comments: Non-collagenous domain 1 hinge region
up seq anno comments: Nonhelical region 1 (NC1)
up seq anno comments: Nonhelical region 10 (NC10)
up seq anno comments: Nonhelical region 11 (NC11)
up seq anno comments: Nonhelical region 2 (NC2)
up seq anno comments: Nonhelical region 3 (NC3)
up seq anno comments: Nonhelical region 4 (NC4)
up seq anno comments: Nonhelical region 5 (NC5)
up seq anno comments: Nonhelical region 6 (NC6)
up seq anno comments: Nonhelical region 7 (NC7)
up seq anno comments: Nonhelical region 8 (NC8)
up seq anno comments: Nonhelical region 9 (NC9)
up seq anno comments: O-linked (GalNAc...) threonine
up seq anno comments: O-linked (Xyl...) (chondroitin sulfate) serine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Triple-helical region 1 (COL1)
up seq anno comments: Triple-helical region 10 (COL10)
up seq anno comments: Triple-helical region 2 (COL2)
up seq anno comments: Triple-helical region 3 (COL3)
up seq anno comments: Triple-helical region 4 (COL4)
up seq anno comments: Triple-helical region 5 (COL5)
up seq anno comments: Triple-helical region 6 (COL6)
up seq anno comments: Triple-helical region 7 (COL7)
up seq anno comments: Triple-helical region 8 (COL8)

9606:ZBTB2
gene id: 9606:ZBTB2
uniprot id: Q8N680
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Zinc Finger
up seq anno comments: BTB
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3; atypical
up seq anno comments: C2H2-type 4; atypical
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Zinc finger and BTB domain-containing protein 2
up seq anno feature ids: PRO_0000047709

9606:SCD5
gene id: 9606:SCD5
uniprot id: Q86SK9
uniprot id: Q86UC8
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Motif
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Helical
up seq anno comments: Histidine box-1
up seq anno comments: Histidine box-2
up seq anno comments: Histidine box-3
up seq anno comments: In DFNA79; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: Lumenal
up seq anno comments: Stearoyl-CoA desaturase 5
up seq anno feature ids: PRO_0000312653
up seq anno feature ids: VAR_085092
up seq anno feature ids: VSP_029883

9606:ADGRB1
gene id: 9606:ADGRB1
uniprot id: O14514
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Abolishes cleavage and production of vasculostatin-120.
up seq anno comments: Abolishes processing of vasculostatin-40.
up seq anno comments: Adhesion G protein-coupled receptor B1
up seq anno comments: Basic and acidic residues
up seq anno comments: Cleavage
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Does not affect processing of vasculostatin-40.
up seq anno comments: Extracellular
up seq anno comments: GPS
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: Increased levels of vasculostatin-120 and decreased levels of vasculostatin-40.
up seq anno comments: Indispensable for interaction with MAGI1
up seq anno comments: Involved in interaction with MAGI1
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: N-terminal stalk following vasculostatin-120 cleavage which is not required for signaling activity
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: TSP type-1 1
up seq anno comments: TSP type-1 2
up seq anno comments: TSP type-1 3
up seq anno comments: TSP type-1 4
up seq anno comments: TSP type-1 5
up seq anno comments: Vasculostatin-120
up seq anno comments: Vasculostatin-40
up seq anno feature ids: PRO_0000012863
up seq anno feature ids: PRO_0000441804
up seq anno feature ids: PRO_0000441805

9606:P2RY2
gene id: 9606:P2RY2
uniprot id: P41231
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: P2Y purinoceptor 2
up seq anno feature ids: PRO_0000070013
up seq anno feature ids: VAR_054870
up seq anno feature ids: VAR_054871
up seq anno feature ids: VAR_054872

9606:ZFR2
gene id: 9606:ZFR2
uniprot id: Q9UPR6
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: DZF
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Pro residues
up seq anno comments: Zinc finger RNA-binding protein 2
up seq anno feature ids: PRO_0000308958
up seq anno feature ids: VAR_036886
up seq anno feature ids: VAR_036887
up seq anno feature ids: VAR_036888
up seq anno feature ids: VAR_036889
up seq anno feature ids: VAR_036890
up seq anno feature ids: VAR_036891
up seq anno feature ids: VAR_061730
up seq anno feature ids: VSP_040635
up seq anno feature ids: VSP_040636
up seq anno feature ids: VSP_057301
up seq anno feature ids: VSP_057302

9606:CDX1
gene id: 9606:CDX1
uniprot id: P47902
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: Homeobox
up seq anno comments: Homeobox protein CDX-1
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with 5-mCpG DNA
up seq anno comments: Interaction with DNA
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000048846
up seq anno feature ids: VAR_020149
up seq anno feature ids: VSP_021030

9606:DGLUCY
gene id: 9606:DGLUCY
uniprot id: B3KVU6
uniprot id: Q4LE40
uniprot id: Q7Z3D6
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transit Peptide
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transit Peptide
up seq anno comments: D-glutamate cyclase, mitochondrial
up seq anno comments: D-glutamate cyclase-like C-terminal
up seq anno comments: In isoform 2, isoform 3 and isoform 4.
up seq anno comments: In isoform 3 and isoform 5.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: Mitochondrion
up seq anno feature ids: PRO_0000036292
up seq anno feature ids: VAR_018738
up seq anno feature ids: VAR_018739
up seq anno feature ids: VAR_052599
up seq anno feature ids: VAR_052600
up seq anno feature ids: VAR_052601
up seq anno feature ids: VAR_052602
up seq anno feature ids: VSP_010505
up seq anno feature ids: VSP_010506
up seq anno feature ids: VSP_010507
up seq anno feature ids: VSP_010508
up seq anno feature ids: VSP_010509
up seq anno feature ids: VSP_010510
up seq anno feature ids: VSP_010511

9606:TMEM35B
gene id: 9606:TMEM35B
uniprot id: Q8NCS4
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Signal Peptide
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: Transmembrane protein 35B
up seq anno feature ids: PRO_0000411096

9606:PRM3
gene id: 9606:PRM3
uniprot id: Q9NNZ6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Protamine-3
up seq anno feature ids: PRO_0000261158
up seq anno feature ids: VAR_034414

9606:PRAMEF1
gene id: 9606:PRAMEF1
uniprot id: O95521
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno comments: LRR 1; degenerate
up seq anno comments: LRR 2; degenerate
up seq anno comments: LRR 3; degenerate
up seq anno comments: LRR 4; degenerate
up seq anno comments: LRR 5
up seq anno comments: LRR 6
up seq anno comments: LRR 7
up seq anno comments: LRR 8
up seq anno comments: LRR 9
up seq anno comments: PRAME family member 1
up seq anno feature ids: PRO_0000156975
up seq anno feature ids: VAR_034396
up seq anno feature ids: VAR_034397
up seq anno feature ids: VAR_053604
up seq anno feature ids: VAR_053605
up seq anno feature ids: VAR_060091
up seq anno feature ids: VAR_060092
up seq anno feature ids: VAR_062138

9606:TEX101
gene id: 9606:TEX101
uniprot id: Q9BY14
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Lipid Binding
up seq anno labels: Propeptide
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: GPI-anchor amidated asparagine
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Removed in mature form
up seq anno comments: Testis-expressed protein 101
up seq anno comments: UPAR/Ly6
up seq anno feature ids: PRO_0000247621
up seq anno feature ids: PRO_0000247622
up seq anno feature ids: VAR_059883
up seq anno feature ids: VAR_082931
up seq anno feature ids: VSP_020029

9606:MID1
gene id: 9606:MID1
uniprot id: A0A087X255
uniprot id: A0A8I5KPE0
uniprot id: A0A8I5KR14
uniprot id: O15344
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: B box-type
up seq anno comments: B box-type 1
up seq anno comments: B box-type 2
up seq anno comments: B30.2/SPRY
up seq anno comments: Basic and acidic residues
up seq anno comments: COS
up seq anno comments: Disordered
up seq anno comments: E3 ubiquitin-protein ligase Midline-1
up seq anno comments: Fibronectin type-III
up seq anno comments: Helical
up seq anno comments: In GBBB.
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: RING-type
up seq anno feature ids: PRO_0000056227
up seq anno feature ids: VAR_013758
up seq anno feature ids: VAR_013759
up seq anno feature ids: VAR_013760
up seq anno feature ids: VAR_013761
up seq anno feature ids: VAR_013762
up seq anno feature ids: VAR_025495
up seq anno feature ids: VAR_025496
up seq anno feature ids: VSP_005735

9606:RIMKLB
gene id: 9606:RIMKLB
uniprot id: Q9ULI2
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno comments: ATP-grasp
up seq anno comments: Beta-citrylglutamate synthase B
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000282571
up seq anno feature ids: VSP_024198
up seq anno feature ids: VSP_024199

9606:CRYBA1
gene id: 9606:CRYBA1
uniprot id: P05813
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Mass
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Initiator Methionine
up seq anno labels: Mass
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Beta-crystallin A3
up seq anno comments: Beta-crystallin A3, isoform A1, Delta4 form
up seq anno comments: Beta-crystallin A3, isoform A1, Delta7 form
up seq anno comments: Beta-crystallin A3, isoform A1, Delta8 form
up seq anno comments: Beta/gamma crystallin 'Greek key' 1
up seq anno comments: Beta/gamma crystallin 'Greek key' 2
up seq anno comments: Beta/gamma crystallin 'Greek key' 3
up seq anno comments: Beta/gamma crystallin 'Greek key' 4
up seq anno comments: Connecting peptide
up seq anno comments: Disordered
up seq anno comments: In CTRCT10.
up seq anno comments: In isoform A1.
up seq anno comments: N-acetylalanine
up seq anno comments: N-acetylmethionine
up seq anno comments: N-terminal arm
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno comments: S-glutathionyl cysteine; alternate
up seq anno comments: S-methylcysteine
up seq anno comments: S-methylcysteine; alternate
up seq anno feature ids: PRO_0000006331
up seq anno feature ids: PRO_0000226692
up seq anno feature ids: PRO_0000226693
up seq anno feature ids: PRO_0000226694
up seq anno feature ids: VAR_084782
up seq anno feature ids: VSP_018710

9606:NPRL3
gene id: 9606:NPRL3
uniprot id: B7Z220
uniprot id: B7Z6Q0
uniprot id: Q12980
uniprot id: Q9BTE2
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: GATOR1 complex protein NPRL3
up seq anno comments: In FFEVF3; unknown pathological significance.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000220638
up seq anno feature ids: VAR_077126
up seq anno feature ids: VAR_077127

9606:BFSP2
gene id: 9606:BFSP2
uniprot id: Q13515
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: Head
up seq anno comments: IF rod
up seq anno comments: In CTRCT12.
up seq anno comments: In CTRCT12; unknown pathological significance.
up seq anno comments: N-acetylserine
up seq anno comments: Phakinin
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno comments: Tail
up seq anno feature ids: PRO_0000063851
up seq anno feature ids: VAR_012163
up seq anno feature ids: VAR_012164
up seq anno feature ids: VAR_084817

9606:MPPED2
gene id: 9606:MPPED2
uniprot id: Q15777
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: Metallophosphoesterase MPPED2
up seq anno feature ids: PRO_0000053405
up seq anno feature ids: VAR_052487
up seq anno feature ids: VSP_045627

9606:TLCD5
gene id: 9606:TLCD5
uniprot id: A8K0W5
uniprot id: Q6ZRR5
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: TLC
up seq anno comments: TLC domain-containing protein 5
up seq anno feature ids: PRO_0000285583
up seq anno feature ids: PRO_5002722701
up seq anno feature ids: VSP_024871
up seq anno feature ids: VSP_039853

9606:TPPP3
gene id: 9606:TPPP3
uniprot id: Q9BW30
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: N-acetylalanine
up seq anno comments: Removed
up seq anno comments: Tubulin polymerization-promoting protein family member 3
up seq anno feature ids: PRO_0000221138

9606:DSEL
gene id: 9606:DSEL
uniprot id: Q8IZU8
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Transmembrane
up seq anno comments: Dermatan-sulfate epimerase-like protein
up seq anno comments: Helical
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000278288
up seq anno feature ids: VAR_030833
up seq anno feature ids: VAR_030834
up seq anno feature ids: VAR_036528
up seq anno feature ids: VAR_057759

9606:TRMT44
gene id: 9606:TRMT44
uniprot id: Q8IYL2
up seq anno parent labels: Chain
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: C3H1-type
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno comments: Probable tRNA (uracil-O(2)-)-methyltransferase
up seq anno feature ids: PRO_0000249894
up seq anno feature ids: VAR_027515
up seq anno feature ids: VAR_066601
up seq anno feature ids: VAR_066602
up seq anno feature ids: VAR_066603
up seq anno feature ids: VSP_020589
up seq anno feature ids: VSP_020590
up seq anno feature ids: VSP_020591
up seq anno feature ids: VSP_020592
up seq anno feature ids: VSP_039538

9606:AMIGO2
gene id: 9606:AMIGO2
uniprot id: Q86SJ2
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Amphoterin-induced protein 2
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Ig-like C2-type
up seq anno comments: LRR 1
up seq anno comments: LRR 2
up seq anno comments: LRR 3
up seq anno comments: LRR 4
up seq anno comments: LRR 5
up seq anno comments: LRR 6
up seq anno comments: LRRCT
up seq anno comments: LRRNT
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000014509

9606:SGCA
gene id: 9606:SGCA
uniprot id: A0A0S2Z4P8
uniprot id: A0A0S2Z4Q1
uniprot id: Q16586
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Alpha-sarcoglycan
up seq anno comments: Cytoplasmic
up seq anno comments: Dystroglycan-type cadherin-like
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In LGMDR3.
up seq anno comments: In LGMDR3; associated with G-137.
up seq anno comments: In LGMDR3; associated with P-G-A-Q-P-136 ins.
up seq anno comments: In isoform SGCA-2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000031673
up seq anno feature ids: PRO_5006608268
up seq anno feature ids: PRO_5014239286
up seq anno feature ids: VAR_010387
up seq anno feature ids: VAR_010388
up seq anno feature ids: VAR_010389
up seq anno feature ids: VAR_010390
up seq anno feature ids: VAR_010402
up seq anno feature ids: VAR_010403
up seq anno feature ids: VAR_010404
up seq anno feature ids: VAR_010405
up seq anno feature ids: VAR_010406
up seq anno feature ids: VAR_010407
up seq anno feature ids: VAR_010408
up seq anno feature ids: VAR_010409
up seq anno feature ids: VAR_010410
up seq anno feature ids: VAR_010411
up seq anno feature ids: VAR_010412
up seq anno feature ids: VAR_010413
up seq anno feature ids: VAR_010414
up seq anno feature ids: VAR_010415
up seq anno feature ids: VAR_010416
up seq anno feature ids: VAR_010417
up seq anno feature ids: VAR_010418
up seq anno feature ids: VAR_010419
up seq anno feature ids: VAR_010420
up seq anno feature ids: VAR_010431
up seq anno feature ids: VAR_010432
up seq anno feature ids: VAR_010433
up seq anno feature ids: VAR_037965
up seq anno feature ids: VAR_037966
up seq anno feature ids: VAR_081098
up seq anno feature ids: VAR_081099
up seq anno feature ids: VSP_006017

9606:CCL4
gene id: 9606:CCL4
uniprot id: P13236
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Helix
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: C-C motif chemokine 4
up seq anno comments: MIP-1-beta(3-69)
up seq anno feature ids: PRO_0000005164
up seq anno feature ids: PRO_0000005165
up seq anno feature ids: VAR_048702
up seq anno feature ids: VAR_048703
up seq anno feature ids: VAR_059211

9606:GRTP1
gene id: 9606:GRTP1
uniprot id: A0A087X0Y1
uniprot id: Q5TC63
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Growth hormone-regulated TBC protein 1
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 2.
up seq anno comments: Rab-GAP TBC
up seq anno feature ids: PRO_0000288708
up seq anno feature ids: VSP_025754
up seq anno feature ids: VSP_025755

9606:TUBB2B
gene id: 9606:TUBB2B
uniprot id: A0A384MEE3
uniprot id: Q9BVA1
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: 5-glutamyl polyglutamate
up seq anno comments: Acidic residues
up seq anno comments: Disordered
up seq anno comments: Found in a patient with cerebellar ataxia intellectual disability and dysequilibrium syndrome; unknown pathological significance; no effect on protein folding; no effect on tubulin heterodimer formation; no effect on integration into the microtubule lattice; no effect on cytoskeleton subcellular location.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
up seq anno comments: In CDCBM7.
up seq anno comments: In CDCBM7; affects microtubules assembly.
up seq anno comments: In CDCBM7; decreased protein expression; decreased tubulin heterodimer formation; no effect on integration into the microtubule lattice; no effect on microtubule cytoskeleton subcellular location; loss of axon guidance.
up seq anno comments: In CDCBM7; decreased tubulin heterodimer formation; decreased ability to incorporate into the cytoskeleton; no effect on microtubules disintegration; increased ability to repolymerize.
up seq anno comments: MREI motif
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CDK1
up seq anno comments: Phosphothreonine
up seq anno comments: Tubulin beta-2B chain
up seq anno comments: Tubulin/FtsZ 2-layer sandwich
up seq anno comments: Tubulin/FtsZ GTPase
up seq anno feature ids: PRO_0000262651
up seq anno feature ids: VAR_063389
up seq anno feature ids: VAR_063390
up seq anno feature ids: VAR_063391
up seq anno feature ids: VAR_063392
up seq anno feature ids: VAR_063393
up seq anno feature ids: VAR_063394
up seq anno feature ids: VAR_078186
up seq anno feature ids: VAR_078187
up seq anno feature ids: VAR_078188
up seq anno feature ids: VAR_078189
up seq anno feature ids: VAR_078190
up seq anno feature ids: VAR_078191

9606:EGFL8
gene id: 9606:EGFL8
uniprot id: A0A1U9X7N9
uniprot id: Q99944
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: EGF-like
up seq anno comments: EGF-like 1
up seq anno comments: EGF-like 2; calcium-binding
up seq anno comments: EMI
up seq anno comments: Epidermal growth factor-like protein 8
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000007531
up seq anno feature ids: PRO_5014275539
up seq anno feature ids: VAR_019792
up seq anno feature ids: VAR_019793
up seq anno feature ids: VAR_048983

9606:SP140L
gene id: 9606:SP140L
uniprot id: H7BYP4
uniprot id: Q9H930
uniprot id: U5Y3L1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Bromo
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: HSR
up seq anno comments: In isoform 1.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Nuclear body protein SP140-like protein
up seq anno comments: PHD-type
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: SAND
up seq anno feature ids: PRO_0000321936
up seq anno feature ids: VAR_059144
up seq anno feature ids: VAR_059145
up seq anno feature ids: VAR_059146
up seq anno feature ids: VSP_031830
up seq anno feature ids: VSP_031831
up seq anno feature ids: VSP_031832
up seq anno feature ids: VSP_031833
up seq anno feature ids: VSP_040889

9606:CIR1
gene id: 9606:CIR1
uniprot id: Q86X95
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Corepressor interacting with RBPJ 1
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with RBPJ
up seq anno comments: Interaction with RP9
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000247984
up seq anno feature ids: VSP_020091
up seq anno feature ids: VSP_020092

9606:SH3D19
gene id: 9606:SH3D19
uniprot id: Q5HYK7
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In isoform 2, isoform 3 and isoform 5.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4 and isoform 5.
up seq anno comments: Interaction with SH3GL1
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: SH3 1
up seq anno comments: SH3 2
up seq anno comments: SH3 3
up seq anno comments: SH3 4
up seq anno comments: SH3 5
up seq anno comments: SH3 domain-containing protein 19
up seq anno feature ids: PRO_0000318197
up seq anno feature ids: VSP_031182
up seq anno feature ids: VSP_031183
up seq anno feature ids: VSP_031184

9606:INSC
gene id: 9606:INSC
uniprot id: Q1MX18
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Abolishes interaction with GPSM2 and GPSM1; when associated with R-89.
up seq anno comments: Abolishes interaction with GPSM2.
up seq anno comments: Important for interaction with GPSM2
up seq anno comments: In isoform 2, isoform 4, isoform 5 and isoform 6.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: PDZ-binding
up seq anno comments: Protein inscuteable homolog
up seq anno comments: Strongly reduces interaction with GPSM2. Abolishes interaction with GPSM2 and GPSM1; when associated with D-97.
up seq anno feature ids: PRO_0000252405
up seq anno feature ids: VAR_027852
up seq anno feature ids: VAR_051073
up seq anno feature ids: VSP_020946
up seq anno feature ids: VSP_020947
up seq anno feature ids: VSP_020948
up seq anno feature ids: VSP_020949
up seq anno feature ids: VSP_020950
up seq anno feature ids: VSP_054159

9606:PEX16
gene id: 9606:PEX16
uniprot id: Q9Y5Y5
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In PBD8B.
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with PEX19
up seq anno comments: Peroxisomal
up seq anno comments: Peroxisomal membrane protein PEX16
up seq anno comments: Required for peroxisomal location
up seq anno feature ids: PRO_0000058330
up seq anno feature ids: VAR_034145
up seq anno feature ids: VAR_051272
up seq anno feature ids: VAR_061841
up seq anno feature ids: VAR_069208
up seq anno feature ids: VAR_069209
up seq anno feature ids: VAR_069210
up seq anno feature ids: VSP_036593

9606:FOXN4
gene id: 9606:FOXN4
uniprot id: A6H901
uniprot id: Q96NZ1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: Fork-head
up seq anno comments: Forkhead box protein N4
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000091870
up seq anno feature ids: VAR_059300
up seq anno feature ids: VSP_017227
up seq anno feature ids: VSP_017228
up seq anno feature ids: VSP_017229
up seq anno feature ids: VSP_054325

9606:LPCAT2
gene id: 9606:LPCAT2
uniprot id: Q7L5N7
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: EF-hand 1
up seq anno comments: EF-hand 2
up seq anno comments: EGTC motif
up seq anno comments: HXXXXD motif
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In isoform 2.
up seq anno comments: Lumenal
up seq anno comments: Lysophosphatidylcholine acyltransferase 2
up seq anno feature ids: PRO_0000247058
up seq anno feature ids: VAR_027058
up seq anno feature ids: VSP_019912

9606:DUSP26
gene id: 9606:DUSP26
uniprot id: Q9BV47
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Dual specificity protein phosphatase 26
up seq anno comments: In isoform 2.
up seq anno comments: Loss of activity.
up seq anno comments: Phosphocysteine intermediate
up seq anno comments: Tyrosine-protein phosphatase
up seq anno feature ids: PRO_0000292219
up seq anno feature ids: VSP_026406

9606:SPATA13
gene id: 9606:SPATA13
uniprot id: A0A024RDM6
uniprot id: B4DMC2
uniprot id: E9PFR9
uniprot id: Q96N96
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: ABR (APC-binding region) domain
up seq anno comments: C-terminal tail
up seq anno comments: DH
up seq anno comments: Disordered
up seq anno comments: Found in two consanguineous families with intellectual disability; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4 and isoform 5.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: PH
up seq anno comments: Phosphoserine
up seq anno comments: SH3
up seq anno comments: Spermatogenesis-associated protein 13
up seq anno feature ids: PRO_0000278448
up seq anno feature ids: VAR_030776
up seq anno feature ids: VAR_080767
up seq anno feature ids: VSP_041030
up seq anno feature ids: VSP_041031
up seq anno feature ids: VSP_041032
up seq anno feature ids: VSP_041033
up seq anno feature ids: VSP_041034
up seq anno feature ids: VSP_054112

9606:PPP1R14B
gene id: 9606:PPP1R14B
uniprot id: Q96C90
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno comments: Disordered
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Protein phosphatase 1 regulatory subunit 14B
up seq anno comments: Removed
up seq anno feature ids: PRO_0000071490

9606:PRMT9
gene id: 9606:PRMT9
uniprot id: Q6P2P2
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 8-fold increase in MMA production and almost complete elimination of sDMA production.
up seq anno comments: Abolishes enzymatic activity.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of interaction with SF3B2; Abolishes enzymatic activity.
up seq anno comments: Protein arginine N-methyltransferase 9
up seq anno comments: SAM-dependent MTase PRMT-type 1
up seq anno comments: SAM-dependent MTase PRMT-type 2
up seq anno comments: TPR 1
up seq anno comments: TPR 2
up seq anno comments: TPR 3
up seq anno feature ids: PRO_0000325929
up seq anno feature ids: VAR_039954
up seq anno feature ids: VAR_039955
up seq anno feature ids: VSP_053972

9606:AMACR
gene id: 9606:AMACR
uniprot id: Q9UHK6
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Alpha-methylacyl-CoA racemase
up seq anno comments: In AMACRD and CBAS4; inactive enzyme.
up seq anno comments: In CBAS4; inactive enzyme.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Microbody targeting signal
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-succinyllysine
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: Proton acceptor
up seq anno comments: Proton donor
up seq anno feature ids: PRO_0000194705
up seq anno feature ids: VAR_010660
up seq anno feature ids: VAR_010661
up seq anno feature ids: VAR_010662
up seq anno feature ids: VAR_010663
up seq anno feature ids: VAR_010664
up seq anno feature ids: VAR_010665
up seq anno feature ids: VAR_055616
up seq anno feature ids: VAR_055617
up seq anno feature ids: VAR_055618
up seq anno feature ids: VAR_055619
up seq anno feature ids: VAR_055620
up seq anno feature ids: VSP_037321
up seq anno feature ids: VSP_037323
up seq anno feature ids: VSP_037324
up seq anno feature ids: VSP_037326
up seq anno feature ids: VSP_044875

9606:EID3
gene id: 9606:EID3
uniprot id: A0A140VJI9
uniprot id: Q8N140
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno comments: EP300-interacting inhibitor of differentiation 3
up seq anno comments: Non-structural maintenance of chromosome element 4 C-terminal
up seq anno comments: Nse4/EID protein Nse3/MAGE-binding
up seq anno feature ids: PRO_0000315905

9606:HSD11B1
gene id: 9606:HSD11B1
uniprot id: P28845
uniprot id: X5D2L1
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: 11-beta-hydroxysteroid dehydrogenase 1
up seq anno comments: Complete loss of activity.
up seq anno comments: Cytoplasmic
up seq anno comments: Helical
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: Inverted topology. No effect on activity.
up seq anno comments: Inverted topology. Reduced Vmax.
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No effect on activity.
up seq anno comments: No effect on topology or activity.
up seq anno comments: No effect on topology. Increased Km for corticosterone.
up seq anno comments: No effect on topology. Reduced Vmax.
up seq anno comments: Predominantly inverted topology. No effect on activity.
up seq anno comments: Proton acceptor
up seq anno comments: Reduced Vmax.
up seq anno feature ids: PRO_0000054619
up seq anno feature ids: VAR_035845

9606:CCER1
gene id: 9606:CCER1
uniprot id: Q8TC90
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Acidic residues
up seq anno comments: Basic residues
up seq anno comments: Coiled-coil domain-containing glutamate-rich protein 1
up seq anno comments: Disordered
up seq anno feature ids: PRO_0000288857
up seq anno feature ids: VAR_032512
up seq anno feature ids: VAR_059617

9606:FBXL13
gene id: 9606:FBXL13
uniprot id: A0A8Q3WK56
uniprot id: Q8N1P0
uniprot id: Q8NEE6
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: F-box
up seq anno comments: F-box and leucine-rich repeat protein 13
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: LRR 1
up seq anno comments: LRR 10
up seq anno comments: LRR 11
up seq anno comments: LRR 12
up seq anno comments: LRR 13
up seq anno comments: LRR 14
up seq anno comments: LRR 15
up seq anno comments: LRR 16
up seq anno comments: LRR 17
up seq anno comments: LRR 2
up seq anno comments: LRR 3
up seq anno comments: LRR 4
up seq anno comments: LRR 5
up seq anno comments: LRR 6
up seq anno comments: LRR 7
up seq anno comments: LRR 8
up seq anno comments: LRR 9
up seq anno feature ids: PRO_0000119859
up seq anno feature ids: VAR_021480
up seq anno feature ids: VAR_031426
up seq anno feature ids: VAR_031427
up seq anno feature ids: VAR_031428
up seq anno feature ids: VAR_031429
up seq anno feature ids: VSP_013003
up seq anno feature ids: VSP_013004
up seq anno feature ids: VSP_013005

9606:MYO9B
gene id: 9606:MYO9B
uniprot id: B0I1T6
uniprot id: Q13459
uniprot id: Q4LE74
uniprot id: Q8WVD2
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Actin-binding
up seq anno comments: Basic and acidic residues
up seq anno comments: Decreases interaction with RHOA. Decreases stimulation of RHOAGTPase activity.
up seq anno comments: Decreases interaction with RHOA. Strongly decreases stimulation of RHOAGTPase activity.
up seq anno comments: Disordered
up seq anno comments: IQ 1
up seq anno comments: IQ 2
up seq anno comments: IQ 3
up seq anno comments: IQ 4
up seq anno comments: In isoform Short.
up seq anno comments: Interaction with RHOA
up seq anno comments: Myosin motor
up seq anno comments: N-acetylserine
up seq anno comments: Neck or regulatory domain
up seq anno comments: Phorbol-ester/DAG-type
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Ras-associating
up seq anno comments: Removed
up seq anno comments: Rho-GAP
up seq anno comments: Strongly decreases interaction with RHOA. Strongly decreases stimulation of RHOAGTPase activity.
up seq anno comments: Tail
up seq anno comments: Unconventional myosin-IXb
up seq anno feature ids: PRO_0000123469
up seq anno feature ids: VSP_003361
up seq anno feature ids: VSP_003362

9606:ZNF335
gene id: 9606:ZNF335
uniprot id: Q8IW09
uniprot id: Q9H4Z2
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: Acidic residues
up seq anno comments: C2H2-type
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 12
up seq anno comments: C2H2-type 13
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In MCPH10; hypomorphic mutation; may cause altered transcript but some full-length protein is still formed.
up seq anno comments: In isoform 2.
up seq anno comments: Involved in the interaction with CCAR2
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Zinc finger protein 335
up seq anno feature ids: PRO_0000047538
up seq anno feature ids: VAR_024211
up seq anno feature ids: VAR_047560
up seq anno feature ids: VAR_047561
up seq anno feature ids: VAR_047562
up seq anno feature ids: VAR_069469
up seq anno feature ids: VSP_035791
up seq anno feature ids: VSP_035792

9606:YARS1
gene id: 9606:YARS1
uniprot id: A0A0S2Z4R1
uniprot id: P54577
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 'HIGH' region
up seq anno comments: 'KMSKS' region
up seq anno comments: Abolished localization to the nucleus. Abolished tyrosine--tRNA ligase activity. Abolished ability to activate PARP1.
up seq anno comments: Disordered
up seq anno comments: Found in a patient with hereditary motor and sensory neuropathy; unknown pathological significance.
up seq anno comments: Found in a patient with proximal-predominant motor neuropathy; probable disease-associated variant; loss of function.
up seq anno comments: In CMTDIC.
up seq anno comments: In CMTDIC; partial loss of activity.
up seq anno comments: In IMNEPD2; hypomorphic variant in yeast complementation assays; decreased homodimerization; does not affect localization to the cytoplasm.
up seq anno comments: In IMNEPD2; unknown pathological significance.
up seq anno comments: N-acetylglycine; in Tyrosine--tRNA ligase, cytoplasmic, N-terminally processed
up seq anno comments: N-acetylmethionine
up seq anno comments: N6-acetyllysine
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Reduced tyrosine--tRNA ligase activity.
up seq anno comments: Removed; alternate
up seq anno comments: Slightly reduced tyrosine--tRNA ligase activity.
up seq anno comments: TRNA-binding
up seq anno comments: Tyrosine--tRNA ligase, cytoplasmic
up seq anno comments: Tyrosine--tRNA ligase, cytoplasmic, N-terminally processed
up seq anno comments: tRNA-binding
up seq anno feature ids: PRO_0000055673
up seq anno feature ids: PRO_0000423285
up seq anno feature ids: VAR_026681
up seq anno feature ids: VAR_026682
up seq anno feature ids: VAR_026683
up seq anno feature ids: VAR_026684
up seq anno feature ids: VAR_073292
up seq anno feature ids: VAR_086001
up seq anno feature ids: VAR_086002
up seq anno feature ids: VAR_086003
up seq anno feature ids: VAR_086004
up seq anno feature ids: VAR_087701

9606:PAICS
gene id: 9606:PAICS
uniprot id: P22234
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: AIR carboxylase domain
up seq anno comments: Bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase
up seq anno comments: In PAICSD; unknown pathological significance; no effect on protein abundance; decreased phosphoribosylaminoimidazole carboxylase activity; decreased phosphoribosylaminoimidazolesuccinocarboxamide synthase activity.
up seq anno comments: In isoform 2.
up seq anno comments: Linker
up seq anno comments: Loss of phosphoribosylaminoimidazole carboxylase activity.
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: No effect on phosphoribosylaminoimidazole carboxylase activity.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Removed
up seq anno comments: SAICAR synthetase domain
up seq anno feature ids: PRO_0000075030
up seq anno feature ids: VAR_051884
up seq anno feature ids: VAR_085931
up seq anno feature ids: VSP_041265

9606:GOLM1
gene id: 9606:GOLM1
uniprot id: B3KNK9
uniprot id: Q8NBJ4
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Golgi membrane protein 1
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In isoform 2.
up seq anno comments: Lumenal
up seq anno comments: N-acetylmethionine
up seq anno comments: N-linked (GlcNAc...) (complex) asparagine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by FAM20C
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000021356
up seq anno feature ids: VAR_053922
up seq anno feature ids: VSP_018782

9606:FAM174A
gene id: 9606:FAM174A
uniprot id: Q8TBP5
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Membrane protein FAM174A
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000263650

9606:CEMIP2
gene id: 9606:CEMIP2
uniprot id: Q9UHN6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: G8
up seq anno comments: GG-type lectin 1
up seq anno comments: GG-type lectin 2
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In isoform 2.
up seq anno comments: Inactive cell surface hyaluronidase CEMIP2
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: PbH1 1
up seq anno comments: PbH1 2
up seq anno comments: PbH1 3
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000289972
up seq anno feature ids: VAR_032669
up seq anno feature ids: VAR_032670
up seq anno feature ids: VAR_032671
up seq anno feature ids: VAR_032672
up seq anno feature ids: VAR_032673
up seq anno feature ids: VAR_032674
up seq anno feature ids: VAR_032675
up seq anno feature ids: VAR_062197
up seq anno feature ids: VAR_062198
up seq anno feature ids: VSP_041401

9606:ABCC10
gene id: 9606:ABCC10
uniprot id: Q5T3U5
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: ABC transmembrane type-1 1
up seq anno comments: ABC transmembrane type-1 2
up seq anno comments: ABC transporter 1
up seq anno comments: ABC transporter 2
up seq anno comments: ATP-binding cassette sub-family C member 10
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000253576
up seq anno feature ids: VAR_028391
up seq anno feature ids: VSP_021078
up seq anno feature ids: VSP_021079
up seq anno feature ids: VSP_021080

9606:CDY1
gene id: 9606:CDY1
uniprot id: Q9Y6F8
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Chromo
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno comments: Testis-specific chromodomain protein Y 1
up seq anno feature ids: PRO_0000080219
up seq anno feature ids: VSP_001079

9606:OLFM4
gene id: 9606:OLFM4
uniprot id: Q6UX06
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Abolishes secretion. No effect on multimer formation.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No effect on secretion. Affects multimer formation.
up seq anno comments: Olfactomedin-4
up seq anno comments: Olfactomedin-like
up seq anno feature ids: PRO_0000311398
up seq anno feature ids: VAR_037246

9606:MYLK2
gene id: 9606:MYLK2
uniprot id: Q9H1R3
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Calmodulin-binding
up seq anno comments: Disordered
up seq anno comments: In CMH.
up seq anno comments: In a lung neuroendocrine carcinoma sample; somatic mutation.
up seq anno comments: Myosin light chain kinase 2, skeletal/cardiac muscle
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Removed
up seq anno feature ids: PRO_0000086408
up seq anno feature ids: VAR_014197
up seq anno feature ids: VAR_014198
up seq anno feature ids: VAR_040860
up seq anno feature ids: VAR_040861
up seq anno feature ids: VAR_040862
up seq anno feature ids: VAR_040863

9606:RFTN2
gene id: 9606:RFTN2
uniprot id: Q52LD8
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Initiator Methionine
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: N-myristoyl glycine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Raftlin-2
up seq anno comments: Removed
up seq anno comments: S-palmitoyl cysteine
up seq anno feature ids: PRO_0000089338

9606:CSNK1D
gene id: 9606:CSNK1D
uniprot id: P48730
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Autoinhibitory
up seq anno comments: Basic and acidic residues
up seq anno comments: Casein kinase I isoform delta
up seq anno comments: Centrosomal localization signal (CLS)
up seq anno comments: Disordered
up seq anno comments: Impaired kinase activity and abnormal subcellular localization with exclusive accumulation to the nucleus.
up seq anno comments: In FASPS2; strongly reduces kinase activity.
up seq anno comments: In breast cancer samples; infiltrating ductal carcinoma; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000192833
up seq anno feature ids: VAR_029075
up seq anno feature ids: VAR_036451
up seq anno feature ids: VAR_042081
up seq anno feature ids: VAR_069801
up seq anno feature ids: VSP_010253

9606:UBE2D1
gene id: 9606:UBE2D1
uniprot id: A0A087WW00
uniprot id: P51668
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Decrease in autoubiquitination.
up seq anno comments: Glycyl thioester intermediate
up seq anno comments: UBC core
up seq anno comments: Ubiquitin-conjugating enzyme E2 D1
up seq anno feature ids: PRO_0000082460

9606:ARFGAP1
gene id: 9606:ARFGAP1
uniprot id: Q53F62
uniprot id: Q8N6T3
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: ADP-ribosylation factor GTPase-activating protein 1
up seq anno comments: Arf-GAP
up seq anno comments: C4-type
up seq anno comments: Disordered
up seq anno comments: In isoform 2 and isoform 5.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000074190
up seq anno feature ids: VAR_015187
up seq anno feature ids: VSP_000298
up seq anno feature ids: VSP_000299
up seq anno feature ids: VSP_021818
up seq anno feature ids: VSP_055379
up seq anno feature ids: VSP_055380
up seq anno feature ids: VSP_055739

9606:NDUFA13
gene id: 9606:NDUFA13
uniprot id: Q9P0J0
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: Important for inducing cell death
up seq anno comments: In MC1DN28; reduced NDUFA13 protein level resulting in complex I instability.
up seq anno comments: In a Hurthle cell variant of papillary carcinoma sample.
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylalanine
up seq anno comments: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13
up seq anno comments: Removed
up seq anno feature ids: PRO_0000118804
up seq anno feature ids: VAR_045984
up seq anno feature ids: VAR_045985
up seq anno feature ids: VAR_078938
up seq anno feature ids: VSP_056644

9606:LIN9
gene id: 9606:LIN9
uniprot id: H0Y322
uniprot id: Q5TKA1
uniprot id: Q6P142
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: DIRP
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Protein lin-9 homolog
up seq anno comments: Removed
up seq anno comments: Sufficient for interaction with RB1
up seq anno feature ids: PRO_0000249546
up seq anno feature ids: VSP_020509
up seq anno feature ids: VSP_020510

9606:TMEM200B
gene id: 9606:TMEM200B
uniprot id: Q69YZ2
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Transmembrane protein 200B
up seq anno feature ids: PRO_0000317154

9606:TRH
gene id: 9606:TRH
uniprot id: P20396
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Peptide
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Peptide
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Polar residues
up seq anno comments: Pro-thyrotropin-releasing hormone
up seq anno comments: Proline amide
up seq anno comments: Thyrotropin-releasing hormone
up seq anno feature ids: PRO_0000022509
up seq anno feature ids: PRO_0000022510
up seq anno feature ids: PRO_0000022511
up seq anno feature ids: PRO_0000022512
up seq anno feature ids: PRO_0000022513
up seq anno feature ids: PRO_0000022514
up seq anno feature ids: PRO_0000022515
up seq anno feature ids: VAR_014787

9606:NDUFS4
gene id: 9606:NDUFS4
uniprot id: A0A0S2Z433
uniprot id: O43181
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: In MC1DN1.
up seq anno comments: In MC1DN1; loss of mitochondrial respiratory complex I; altered nonsense mediated mRNA decay.
up seq anno comments: Loss of phosphorylation.
up seq anno comments: Mitochondrion
up seq anno comments: NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial
up seq anno comments: Phosphoserine; by PKA
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000020038
up seq anno feature ids: VAR_012037
up seq anno feature ids: VAR_078943
up seq anno feature ids: VAR_078944
up seq anno feature ids: VAR_078945
up seq anno feature ids: VAR_078946

9606:DNM3
gene id: 9606:DNM3
uniprot id: Q9UQ16
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: Dynamin-3
up seq anno comments: Dynamin-type G
up seq anno comments: G1 motif
up seq anno comments: G2 motif
up seq anno comments: G3 motif
up seq anno comments: G4 motif
up seq anno comments: G5 motif
up seq anno comments: GED
up seq anno comments: In isoform 2, isoform 3 and isoform 5.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: N6-acetyllysine
up seq anno comments: PH
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000206573
up seq anno feature ids: VSP_034053
up seq anno feature ids: VSP_034054
up seq anno feature ids: VSP_054546
up seq anno feature ids: VSP_054547

9606:SERINC4
gene id: 9606:SERINC4
uniprot id: A6NH21
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Serine incorporator 4
up seq anno feature ids: PRO_0000333871
up seq anno feature ids: VSP_033584
up seq anno feature ids: VSP_033585

9606:SEC14L5
gene id: 9606:SEC14L5
uniprot id: O43304
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno comments: CRAL-TRIO
up seq anno comments: Disordered
up seq anno comments: GOLD
up seq anno comments: PRELI/MSF1
up seq anno comments: SEC14-like protein 5
up seq anno feature ids: PRO_0000333865

9606:ATP8B4
gene id: 9606:ATP8B4
uniprot id: Q6PG43
uniprot id: Q8TF62
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: 4-aspartylphosphate intermediate
up seq anno comments: Basic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Exoplasmic loop
up seq anno comments: Helical
up seq anno comments: P-type ATPase C-terminal
up seq anno comments: Probable phospholipid-transporting ATPase IM
up seq anno feature ids: PRO_0000046368
up seq anno feature ids: VAR_046962
up seq anno feature ids: VAR_046963
up seq anno feature ids: VAR_046964
up seq anno feature ids: VAR_046965

9606:HS3ST1
gene id: 9606:HS3ST1
uniprot id: O14792
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Heparan sulfate glucosamine 3-O-sulfotransferase 1
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000033451
up seq anno feature ids: VAR_021515
up seq anno feature ids: VAR_052529

9606:C17orf99
gene id: 9606:C17orf99
uniprot id: Q6UX52
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Protein IL-40
up seq anno feature ids: PRO_0000272654
up seq anno feature ids: VAR_067466

9606:ST8SIA2
gene id: 9606:ST8SIA2
uniprot id: B2R9U8
uniprot id: C6G488
uniprot id: Q4VAY9
uniprot id: Q92186
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Alpha-2,8-sialyltransferase 8B
up seq anno comments: Cytoplasmic
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Proton donor/acceptor
up seq anno feature ids: PRO_0000149285
up seq anno feature ids: PRO_5004245513
up seq anno feature ids: PRO_5014086434
up seq anno feature ids: PRO_5014298297

9606:MAGEB10
gene id: 9606:MAGEB10
uniprot id: Q96LZ2
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Basic residues
up seq anno comments: Disordered
up seq anno comments: MAGE
up seq anno comments: Melanoma-associated antigen B10
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000156718
up seq anno feature ids: VAR_026773
up seq anno feature ids: VAR_054500

9606:AMY1C
gene id: 9606:AMY1C
uniprot id: P0DTE7
uniprot id: P0DTE8
uniprot id: P0DUB6
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Alpha-amylase 1A
up seq anno comments: Alpha-amylase 1B
up seq anno comments: Alpha-amylase 1C
up seq anno comments: Deamidated asparagine; partial
up seq anno comments: Deamidated asparagine; partial; alternate
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Nucleophile
up seq anno comments: Proton donor
up seq anno comments: Pyrrolidone carboxylic acid
up seq anno comments: Transition state stabilizer
up seq anno feature ids: PRO_0000001401
up seq anno feature ids: PRO_0000450820
up seq anno feature ids: PRO_0000450821

9606:LGALS8
gene id: 9606:LGALS8
uniprot id: O00214
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes localization to cytoplasmic vesicles in case of infection by S.typhimurium.
up seq anno comments: Critical for binding to sialylated and sulfated oligosaccharides
up seq anno comments: Does not affect localization to cytoplasmic vesicles in case of infection by S.typhimurium.
up seq anno comments: Galectin 1
up seq anno comments: Galectin 2
up seq anno comments: Galectin-8
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000076943
up seq anno feature ids: VAR_009710
up seq anno feature ids: VAR_012990
up seq anno feature ids: VAR_012991
up seq anno feature ids: VAR_063506
up seq anno feature ids: VSP_003094

9606:FPR3
gene id: 9606:FPR3
uniprot id: P25089
uniprot id: Q6L5J4
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-formyl peptide receptor 3
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000069457

9606:PRR20C
gene id: 9606:PRR20C
uniprot id: P86478
uniprot id: P86479
uniprot id: P86480
uniprot id: P86481
uniprot id: P86496
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Region
up seq anno comments: Disordered
up seq anno comments: Proline-rich protein 20A
up seq anno comments: Proline-rich protein 20B
up seq anno comments: Proline-rich protein 20C
up seq anno comments: Proline-rich protein 20D
up seq anno comments: Proline-rich protein 20E
up seq anno feature ids: PRO_0000336092
up seq anno feature ids: PRO_0000393890
up seq anno feature ids: PRO_0000393891
up seq anno feature ids: PRO_0000393892
up seq anno feature ids: PRO_0000393893

9606:PRAME
gene id: 9606:PRAME
uniprot id: P78395
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Impaired formation of the CRL2(PRAME) complex.
up seq anno comments: LRR 1; degenerate
up seq anno comments: LRR 2; degenerate
up seq anno comments: LRR 3; degenerate
up seq anno comments: LRR 4; degenerate
up seq anno comments: LRR 5
up seq anno comments: LRR 6
up seq anno comments: LRR 7
up seq anno comments: LRR 8
up seq anno comments: LRR 9
up seq anno comments: Loss of interaction with RARA and defective in repressing RARA signaling.
up seq anno comments: Mediates interaction with RARA
up seq anno comments: Melanoma antigen preferentially expressed in tumors
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000156973
up seq anno feature ids: VAR_021258
up seq anno feature ids: VAR_062137

9606:FAM53C
gene id: 9606:FAM53C
uniprot id: Q9NYF3
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Protein FAM53C
up seq anno feature ids: PRO_0000189546
up seq anno feature ids: VAR_053089

9606:CDCA7L
gene id: 9606:CDCA7L
uniprot id: A8K8X5
uniprot id: Q96GN5
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Cell division cycle-associated 7-like protein
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Integrase domain-binding motif 1 (IBM1)
up seq anno comments: Integrase domain-binding motif 2 (IBM2)
up seq anno comments: MYC-binding
up seq anno comments: Phosphomimetic mutant. Increased interaction with PSIP1; when associated with D-21, D-77 and D-79.
up seq anno comments: Phosphomimetic mutant. Increased interaction with PSIP1; when associated with D-21, D-77 and D-81.
up seq anno comments: Phosphomimetic mutant. Increased interaction with PSIP1; when associated with D-21, D-79 and D-81.
up seq anno comments: Phosphomimetic mutant. Increased interaction with PSIP1; when associated with D-77, D-79 and D-81.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Significant loss of interaction with PSIP1; when associated with A-16. Complete loss of interaction with PSIP1; when associated with A-16, A-72 and A-73.
up seq anno comments: Significant loss of interaction with PSIP1; when associated with A-17. Complete loss of interaction with PSIP1; when associated with A-17, A-72 and A-73.
up seq anno comments: Significant loss of interaction with PSIP1; when associated with A-72. Complete loss of interaction with PSIP1; when associated with A-16, A-17 and A-72.
up seq anno comments: Significant loss of interaction with PSIP1; when associated with A-73. Complete loss of interaction with PSIP1; when associated with A-16, A-17 and A-73.
up seq anno comments: Zinc-finger
up seq anno feature ids: PRO_0000249313
up seq anno feature ids: VAR_050776
up seq anno feature ids: VAR_083475
up seq anno feature ids: VSP_020398
up seq anno feature ids: VSP_043806
up seq anno feature ids: VSP_046270

9606:TICRR
gene id: 9606:TICRR
uniprot id: Q7Z2Z1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Treslin
up seq anno feature ids: PRO_0000296623
up seq anno feature ids: VAR_034631
up seq anno feature ids: VAR_050886
up seq anno feature ids: VAR_050887
up seq anno feature ids: VAR_050888
up seq anno feature ids: VAR_050889
up seq anno feature ids: VAR_050890
up seq anno feature ids: VAR_050891
up seq anno feature ids: VAR_050892
up seq anno feature ids: VSP_039218

9606:RECK
gene id: 9606:RECK
uniprot id: A8K9D8
uniprot id: O95980
uniprot id: Q6P9E2
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Lipid Binding
up seq anno labels: Mutagenesis Site
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: 5 X Knot repeats
up seq anno comments: Abolished interaction with WNT7A.
up seq anno comments: GPI-anchor amidated serine
up seq anno comments: Kazal-like
up seq anno comments: Kazal-like 1
up seq anno comments: Kazal-like 2
up seq anno comments: Kazal-like 3
up seq anno comments: Knot 1
up seq anno comments: Knot 2
up seq anno comments: Knot 3
up seq anno comments: Knot 4
up seq anno comments: Knot 5
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Removed in mature form
up seq anno comments: Reversion-inducing cysteine-rich protein with Kazal motifs
up seq anno feature ids: PRO_0000016583
up seq anno feature ids: PRO_0000016584
up seq anno feature ids: PRO_5002725579
up seq anno feature ids: PRO_5004278890
up seq anno feature ids: VAR_034021

9606:FSIP2
gene id: 9606:FSIP2
uniprot id: Q5CZC0
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Fibrous sheath-interacting protein 2
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000331750
up seq anno feature ids: VAR_042938
up seq anno feature ids: VAR_075707
up seq anno feature ids: VAR_075708
up seq anno feature ids: VSP_039412
up seq anno feature ids: VSP_039413

9606:DAP
gene id: 9606:DAP
uniprot id: B4DQ75
uniprot id: P51397
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno comments: Basic and acidic residues
up seq anno comments: Death-associated protein 1
up seq anno comments: Disordered
up seq anno comments: N-acetylserine
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by MTOR
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno feature ids: PRO_0000079782

9606:MPIG6B
gene id: 9606:MPIG6B
uniprot id: B0V023
uniprot id: O95866
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Abolishes the inhibitory effect against ligand-induced activation of PLCG2 by CLEC1B and GP6:FCER1G; when associated with F-237.
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: ITIM motif
up seq anno comments: In THAMY; increased protein degradation; decreased enhancement of hematopoietic lineage differentiation.
up seq anno comments: In isoform A.
up seq anno comments: In isoform C.
up seq anno comments: In isoform D.
up seq anno comments: In isoform E.
up seq anno comments: In isoform F.
up seq anno comments: In isoform G.
up seq anno comments: Loss of tyrosine phosphorylation and loss of interaction with PTPN6 and PTPN11.
up seq anno comments: Megakaryocyte and platelet inhibitory receptor G6b
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphotyrosine
up seq anno comments: Reduced level of tyrosine phosphorylation and interaction with PTPN6 and PTPN11.
up seq anno feature ids: PRO_0000021312
up seq anno feature ids: PRO_5014298131
up seq anno feature ids: VAR_051004
up seq anno feature ids: VAR_078570
up seq anno feature ids: VSP_014172
up seq anno feature ids: VSP_014173
up seq anno feature ids: VSP_014174
up seq anno feature ids: VSP_014175
up seq anno feature ids: VSP_014176
up seq anno feature ids: VSP_014177

9606:FAM167A
gene id: 9606:FAM167A
uniprot id: Q96KS9
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: Protein FAM167A
up seq anno feature ids: PRO_0000221433
up seq anno feature ids: VAR_062205
up seq anno feature ids: VAR_062206

9606:SRP19
gene id: 9606:SRP19
uniprot id: A0A087WYR0
uniprot id: P09132
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Polar residues
up seq anno comments: Signal recognition particle 19 kDa protein
up seq anno feature ids: PRO_0000135197
up seq anno feature ids: VAR_027800
up seq anno feature ids: VSP_042540
up seq anno feature ids: VSP_044524

9606:MTX2
gene id: 9606:MTX2
uniprot id: O75431
up seq anno parent labels: Chain
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: Metaxin-2
up seq anno comments: N-acetylserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000220995
up seq anno feature ids: VSP_054468

9606:CREB3L2
gene id: 9606:CREB3L2
uniprot id: Q68D60
uniprot id: Q70SY1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Basic motif
up seq anno comments: Cyclic AMP-responsive element-binding protein 3-like protein 2
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Leucine-zipper
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Processed cyclic AMP-responsive element-binding protein 3-like protein 2
up seq anno comments: S1P recognition
up seq anno comments: bZIP
up seq anno feature ids: PRO_0000288067
up seq anno feature ids: PRO_0000296209
up seq anno feature ids: VAR_062385
up seq anno feature ids: VAR_062386
up seq anno feature ids: VSP_025634
up seq anno feature ids: VSP_025635
up seq anno feature ids: VSP_025636

9606:TUBD1
gene id: 9606:TUBD1
uniprot id: Q9UJT1
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: Tubulin delta chain
up seq anno feature ids: PRO_0000048484
up seq anno feature ids: VAR_030000
up seq anno feature ids: VSP_006680
up seq anno feature ids: VSP_006681
up seq anno feature ids: VSP_045196
up seq anno feature ids: VSP_046949
up seq anno feature ids: VSP_046950

9606:AP4M1
gene id: 9606:AP4M1
uniprot id: C9JC87
uniprot id: O00189
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: AP-4 complex subunit mu-1
up seq anno comments: Abolishes interaction with APP.
up seq anno comments: MHD
up seq anno comments: Strongly reduced interaction with APP.
up seq anno feature ids: PRO_0000193787

9606:STK38L
gene id: 9606:STK38L
uniprot id: Q9Y2H1
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: AGC-kinase C-terminal
up seq anno comments: Decreased kinase activity.
up seq anno comments: Decreased kinase activity. Reduced binding of S100B.
up seq anno comments: In a aLLTEL/AML1+ sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of autophosphorylation and kinase activity.
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine; by autocatalysis
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by STK24/MST3
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Removed
up seq anno comments: S100B binding
up seq anno comments: Serine/threonine-protein kinase 38-like
up seq anno feature ids: PRO_0000086720
up seq anno feature ids: VAR_041199
up seq anno feature ids: VSP_056233
up seq anno feature ids: VSP_056234

9606:IL13RA2
gene id: 9606:IL13RA2
uniprot id: Q14627
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Motif
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Fibronectin type-III 1
up seq anno comments: Fibronectin type-III 2
up seq anno comments: Fibronectin type-III 3
up seq anno comments: Helical
up seq anno comments: Interleukin-13 receptor subunit alpha-2
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: WSXWS motif
up seq anno feature ids: PRO_0000010942
up seq anno feature ids: VAR_021256

9606:DNMT1
gene id: 9606:DNMT1
uniprot id: I6L9H2
uniprot id: P26358
uniprot id: Q59FP7
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: 1
up seq anno comments: 2
up seq anno comments: 3
up seq anno comments: 4
up seq anno comments: 5
up seq anno comments: 6 X 2 AA tandem repeats of K-G
up seq anno comments: 6; approximate
up seq anno comments: Abolishes interaction with PCNA.
up seq anno comments: Autoinhibitory linker
up seq anno comments: BAH
up seq anno comments: BAH 1
up seq anno comments: BAH 2
up seq anno comments: Basic and acidic residues
up seq anno comments: CXXC-type
up seq anno comments: Catalytic
up seq anno comments: DMAP1-binding
up seq anno comments: DNA (cytosine-5)-methyltransferase 1
up seq anno comments: DNA replication foci-targeting sequence
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: Homodimerization
up seq anno comments: Important for activity
up seq anno comments: In ADCADN.
up seq anno comments: In HSN1E; unstable protein with decreased enzymatic activity and impaired heterochromatin binding ability after the S phase.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Interaction with DMAP1
up seq anno comments: Interaction with DNMT3A
up seq anno comments: Interaction with DNMT3B
up seq anno comments: Interaction with PCNA
up seq anno comments: Interaction with the PRC2/EED-EZH2 complex
up seq anno comments: Loss of activity.

9606:ZDHHC8
gene id: 9606:ZDHHC8
uniprot id: Q9ULC8
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: DHHC
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Lumenal
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Palmitoyltransferase ZDHHC8
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: S-palmitoyl cysteine intermediate
up seq anno feature ids: PRO_0000212877
up seq anno feature ids: VSP_012572
up seq anno feature ids: VSP_012573

9606:BRWD1
gene id: 9606:BRWD1
uniprot id: Q9NSI6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Bromo 1
up seq anno comments: Bromo 2
up seq anno comments: Bromodomain and WD repeat-containing protein 1
up seq anno comments: Disordered
up seq anno comments: In isoform B.
up seq anno comments: In isoform C.
up seq anno comments: In isoform D.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: WD 1
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno comments: WD 7
up seq anno comments: WD 8
up seq anno feature ids: PRO_0000050888
up seq anno feature ids: VAR_026435
up seq anno feature ids: VAR_026436
up seq anno feature ids: VAR_026437
up seq anno feature ids: VAR_057584
up seq anno feature ids: VSP_018526
up seq anno feature ids: VSP_018527
up seq anno feature ids: VSP_018528
up seq anno feature ids: VSP_044245
up seq anno feature ids: VSP_044246

9606:HIGD1A
gene id: 9606:HIGD1A
uniprot id: Q9Y241
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transmembrane
up seq anno comments: HIG1
up seq anno comments: HIG1 domain family member 1A, mitochondrial
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylserine
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000215770
up seq anno feature ids: VSP_041211

9606:S100A4
gene id: 9606:S100A4
uniprot id: P26447
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: EF-hand 1
up seq anno comments: EF-hand 2
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: Protein S100-A4
up seq anno comments: Removed
up seq anno feature ids: PRO_0000143977

9606:BLTP3A
gene id: 9606:BLTP3A
uniprot id: Q6BDS2
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Bridge-like lipid transfer protein family member 3A
up seq anno comments: Chorein N-terminal
up seq anno comments: Disordered
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000065723
up seq anno feature ids: VAR_051474
up seq anno feature ids: VAR_051475
up seq anno feature ids: VAR_051476
up seq anno feature ids: VAR_051477
up seq anno feature ids: VAR_051478

9606:C8A
gene id: 9606:C8A
uniprot id: P07357
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: C-linked (Man) tryptophan
up seq anno comments: Complement component C8 alpha chain
up seq anno comments: Disordered
up seq anno comments: EGF-like
up seq anno comments: In allele C8A*B.
up seq anno comments: Interchain (with C-60 in C8-gamma chain)
up seq anno comments: LDL-receptor class A
up seq anno comments: MACPF
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Not glycosylated
up seq anno comments: TSP type-1 1
up seq anno comments: TSP type-1 2
up seq anno feature ids: PRO_0000023585
up seq anno feature ids: PRO_0000023586
up seq anno feature ids: VAR_011889
up seq anno feature ids: VAR_011890
up seq anno feature ids: VAR_011891
up seq anno feature ids: VAR_011892
up seq anno feature ids: VAR_033800
up seq anno feature ids: VAR_033801

9606:RPH3A
gene id: 9606:RPH3A
uniprot id: Q9Y2J0
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: C2 1
up seq anno comments: C2 2
up seq anno comments: Disordered
up seq anno comments: FYVE-type
up seq anno comments: In isoform 2.
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: RabBD
up seq anno comments: Rabphilin-3A
up seq anno feature ids: PRO_0000190227
up seq anno feature ids: VSP_021016

9606:HBG2
gene id: 9606:HBG2
uniprot id: D9YZU9
uniprot id: P69892
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno comments: Globin family profile
up seq anno comments: Hemoglobin subunit gamma-2
up seq anno comments: In Albaicin.
up seq anno comments: In Auckland.
up seq anno comments: In Austell.
up seq anno comments: In Bonheiden; causes severe hereditary hemolytic anemia.
up seq anno comments: In Bron.
up seq anno comments: In Brooklyn.
up seq anno comments: In Calabria.
up seq anno comments: In Caltech.
up seq anno comments: In Carlton.
up seq anno comments: In Catalonia.
up seq anno comments: In Clamart.
up seq anno comments: In Clarke.
up seq anno comments: In Coigneres.
up seq anno comments: In Columbus-Ga.
up seq anno comments: In Cosenza.
up seq anno comments: In Emirates.
up seq anno comments: In Fuchu.
up seq anno comments: In Granada.
up seq anno comments: In Heather.
up seq anno comments: In Kennestone.
up seq anno comments: In Kingston.
up seq anno comments: In La Grange.
up seq anno comments: In LesVos/Waynesboro/Charlotte.
up seq anno comments: In Lodz.
up seq anno comments: In Macedonia-II.
up seq anno comments: In Malaysia.
up seq anno comments: In Malta-1.
up seq anno comments: In Marietta.
up seq anno comments: In Meinohama.
up seq anno comments: In Melbourne.
up seq anno comments: In Minoo.
up seq anno comments: In Oakland.
up seq anno comments: In Onoda; O(2) affinity up.
up seq anno comments: In Ouled Rabah.
up seq anno comments: In Poole; unstable.
up seq anno comments: In Port-Royal.
up seq anno comments: In Sacromonte.
up seq anno comments: In Saskatoon.
up seq anno comments: In Shanghai.
up seq anno comments: In TNCY; hemoglobin Cincinnati.
up seq anno comments: In TNCY; hemoglobin F-Brugine/Feldkirch; lowered affinity for oxygen.
up seq anno comments: In TNCY; hemoglobin Fort Ripley.
up seq anno comments: In TNCY; hemoglobin M-Circleville.
up seq anno comments: In TNCY; hemoglobin Osaka; the presence of a tyrosine causes the formation of a covalent link with heme iron, so that the iron is stabilized in the ferric form; when this occurs methemoglobin is formed, oxygen can no longer bind to heme and cyanosis occurs.
up seq anno comments: In TNCY; hemoglobin Toms River; the side chain of methionine decreases both the affinity of oxygen for binding to the mutant hemoglobin subunit via steric hindrance and the rate at which it does so; the mutant methionine is converted to aspartic acid post-translationally.
up seq anno comments: In Tokyo.
up seq anno comments: In Urumqi.
up seq anno comments: In Veleta.
up seq anno comments: N-acetylglycine; in form Hb F1
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno comments: S-nitrosocysteine
up seq anno comments: distal binding residue

9606:LARGE2
gene id: 9606:LARGE2
uniprot id: B3KP69
uniprot id: E9PIZ2
uniprot id: Q8N3Y3
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Glucuronyltransferase activity
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Xylosyl- and glucuronyltransferase LARGE2
up seq anno comments: Xylosyltransferase activity
up seq anno feature ids: PRO_0000226811
up seq anno feature ids: PRO_5002790274
up seq anno feature ids: PRO_5003244089
up seq anno feature ids: VAR_025518
up seq anno feature ids: VAR_031854
up seq anno feature ids: VAR_031855

9606:SNX13
gene id: 9606:SNX13
uniprot id: Q86XC4
uniprot id: Q9Y5W8
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: PX
up seq anno comments: PXA
up seq anno comments: RGS
up seq anno comments: Sorting nexin-13
up seq anno feature ids: PRO_0000213860
up seq anno feature ids: VAR_057333
up seq anno feature ids: VSP_006192

9606:PSMC3
gene id: 9606:PSMC3
uniprot id: A0A140VK42
uniprot id: P17980
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno comments: 26S proteasome regulatory subunit 6A
up seq anno comments: AAA+ ATPase
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000084698

9606:CYP11A1
gene id: 9606:CYP11A1
uniprot id: A0A0S2Z3R3
uniprot id: P05108
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: Cholesterol side-chain cleavage enzyme, mitochondrial
up seq anno comments: In AICSR; complete loss of activity.
up seq anno comments: In AICSR; loss of activity.
up seq anno comments: In AICSR; markedly reduced activity.
up seq anno comments: In AICSR; no loss of activity.
up seq anno comments: In AICSR; reduced activity.
up seq anno comments: In isoform 2.
up seq anno comments: Mitochondrion
up seq anno comments: axial binding residue
up seq anno feature ids: PRO_0000003585
up seq anno feature ids: VAR_013944
up seq anno feature ids: VAR_016949
up seq anno feature ids: VAR_016950
up seq anno feature ids: VAR_016951
up seq anno feature ids: VAR_065241
up seq anno feature ids: VAR_065242
up seq anno feature ids: VAR_065243
up seq anno feature ids: VAR_065244
up seq anno feature ids: VSP_045695

9606:USP17L10
gene id: 9606:USP17L10
uniprot id: C9JJH3
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Site
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno comments: Disordered
up seq anno comments: Nucleophile
up seq anno comments: Polar residues
up seq anno comments: Proton acceptor
up seq anno comments: USP
up seq anno comments: Ubiquitin carboxyl-terminal hydrolase 17-like protein 10
up seq anno feature ids: PRO_0000421086

9606:FLCN
gene id: 9606:FLCN
uniprot id: A0A0S2Z5Y7
uniprot id: Q8NFG4
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolished GTPase activation (GAP) activity.
up seq anno comments: Disordered
up seq anno comments: Does not assemble into a stable folliculin complex (LFC), preventing localization to the lysosomal membrane upon amino acid starvation.
up seq anno comments: Essential for GTPase activation (GAP) activity
up seq anno comments: Essential for interaction with LDHA
up seq anno comments: Folliculin
up seq anno comments: Found in a colorectal cell line; impaired protein stability.
up seq anno comments: Impaired ability to regulate autophagy; when associated with A-406 and A-537.
up seq anno comments: Impaired ability to regulate autophagy; when associated with A-406 and A-542.
up seq anno comments: Impaired ability to regulate autophagy; when associated with A-537 and A-542.
up seq anno comments: In BHD.
up seq anno comments: In BHD; does not impair protein stability, growth suppression activity or intracellular localization of folliculin.
up seq anno comments: In PSP and BHD; impaired protein stability.
up seq anno comments: In PSP.
up seq anno comments: In RCC; impaired protein stability.
up seq anno comments: In a primary clear-cell renal cell carcinoma; somatic mutation.
up seq anno comments: In a primary colorectal cancer.
up seq anno comments: In a primary colorectal cancer; somatic mutation.
up seq anno comments: In a renal cell carcinoma cell line.
up seq anno comments: In a sporadic colorectal carcinoma; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by ULK1
up seq anno comments: Polar residues
up seq anno comments: UDENN FLCN/SMCR8-type
up seq anno comments: cDENN FLCN/SMCR8-type
up seq anno comments: dDENN FLCN/SMCR8-type
up seq anno comments: uDENN FLCN/SMCR8-type
up seq anno feature ids: PRO_0000223940
up seq anno feature ids: VAR_025356
up seq anno feature ids: VAR_025357
up seq anno feature ids: VAR_025358
up seq anno feature ids: VAR_025359
up seq anno feature ids: VAR_025360
up seq anno feature ids: VAR_025361
up seq anno feature ids: VAR_066023
up seq anno feature ids: VAR_066024
up seq anno feature ids: VAR_066025
up seq anno feature ids: VAR_066026
up seq anno feature ids: VAR_066027
up seq anno feature ids: VAR_066028
up seq anno feature ids: VAR_066029
up seq anno feature ids: VAR_083268

9606:CFL2
gene id: 9606:CFL2
uniprot id: Q549N0
uniprot id: Q9Y281
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: ADF-H
up seq anno comments: Cofilin-2
up seq anno comments: In NEM7; protein is less soluble when expressed in Escherichia coli.
up seq anno comments: In NEM7; unknown pathological significance.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 3.
up seq anno comments: Interaction with CSRP3
up seq anno comments: N-acetylalanine
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000214907
up seq anno feature ids: VAR_031989
up seq anno feature ids: VAR_036458
up seq anno feature ids: VAR_075983
up seq anno feature ids: VSP_046831

9606:MVB12A
gene id: 9606:MVB12A
uniprot id: Q96EY5
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Abolishes interaction with CD2AP and CIN85/SH3KBP1.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Interaction with TSG101, VPS37B and VPS28
up seq anno comments: MABP
up seq anno comments: Mimics constitutively phosphorylated form and has the ability to interact with CD2AP and CIN85/SH3KBP1 without EGF treatment.
up seq anno comments: Multivesicular body subunit 12A
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: SH3-binding
up seq anno comments: UMA
up seq anno feature ids: PRO_0000249069
up seq anno feature ids: VAR_049018
up seq anno feature ids: VSP_020629
up seq anno feature ids: VSP_020630

9606:ULK4
gene id: 9606:ULK4
uniprot id: Q96C45
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: HEAT 1
up seq anno comments: HEAT 2
up seq anno comments: HEAT 3
up seq anno comments: HEAT 4
up seq anno comments: HEAT 5
up seq anno comments: Polar residues
up seq anno comments: Protein kinase
up seq anno comments: Serine/threonine-protein kinase ULK4
up seq anno feature ids: PRO_0000260154
up seq anno feature ids: VAR_029005
up seq anno feature ids: VAR_029006
up seq anno feature ids: VAR_029007
up seq anno feature ids: VAR_029008
up seq anno feature ids: VAR_029009
up seq anno feature ids: VAR_041286
up seq anno feature ids: VAR_041287
up seq anno feature ids: VAR_041288
up seq anno feature ids: VAR_041289
up seq anno feature ids: VAR_041290
up seq anno feature ids: VAR_041291
up seq anno feature ids: VAR_041292
up seq anno feature ids: VAR_051679
up seq anno feature ids: VAR_051680
up seq anno feature ids: VAR_059772

9606:DARS1
gene id: 9606:DARS1
uniprot id: A0A140VJW5
uniprot id: P14868
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Aminoacyl-transfer RNA synthetases class-II family profile
up seq anno comments: Aspartate
up seq anno comments: Aspartate--tRNA ligase, cytoplasmic
up seq anno comments: Binding site for the 3'-end of tRNA
up seq anno comments: In HBSL.
up seq anno comments: In isoform 2.
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by PKA
up seq anno feature ids: PRO_0000111010
up seq anno feature ids: VAR_027611
up seq anno feature ids: VAR_070038
up seq anno feature ids: VAR_070039
up seq anno feature ids: VAR_070040
up seq anno feature ids: VAR_070041
up seq anno feature ids: VAR_070042
up seq anno feature ids: VAR_070043
up seq anno feature ids: VAR_070044
up seq anno feature ids: VAR_070045
up seq anno feature ids: VSP_056192

9606:ZNF407
gene id: 9606:ZNF407
uniprot id: Q9C0G0
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 12
up seq anno comments: C2H2-type 13
up seq anno comments: C2H2-type 14; degenerate
up seq anno comments: C2H2-type 15
up seq anno comments: C2H2-type 16
up seq anno comments: C2H2-type 17
up seq anno comments: C2H2-type 18
up seq anno comments: C2H2-type 19
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 20
up seq anno comments: C2H2-type 21
up seq anno comments: C2H2-type 22
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: Disordered
up seq anno comments: In SIMHA.
up seq anno comments: In SIMHA; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Zinc finger protein 407
up seq anno feature ids: PRO_0000047568
up seq anno feature ids: VAR_036694
up seq anno feature ids: VAR_052820
up seq anno feature ids: VAR_052821
up seq anno feature ids: VAR_052822
up seq anno feature ids: VAR_061945
up seq anno feature ids: VAR_086433
up seq anno feature ids: VAR_086434
up seq anno feature ids: VAR_086435
up seq anno feature ids: VAR_086436
up seq anno feature ids: VAR_086437
up seq anno feature ids: VSP_028843
up seq anno feature ids: VSP_028844
up seq anno feature ids: VSP_028845
up seq anno feature ids: VSP_028846

9606:SNX8
gene id: 9606:SNX8
uniprot id: Q9Y5X2
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: PX
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Sorting nexin-8
up seq anno feature ids: PRO_0000213851
up seq anno feature ids: VAR_036259

9606:RFC1
gene id: 9606:RFC1
uniprot id: P35251
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Acidic residues
up seq anno comments: BRCT
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: Replication factor C subunit 1
up seq anno feature ids: PRO_0000121772
up seq anno feature ids: VAR_014860
up seq anno feature ids: VAR_016986
up seq anno feature ids: VAR_020657
up seq anno feature ids: VAR_020658
up seq anno feature ids: VAR_020659
up seq anno feature ids: VSP_008443

9606:GRID2IP
gene id: 9606:GRID2IP
uniprot id: A4D2P6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Delphilin
up seq anno comments: Disordered
up seq anno comments: FH2
up seq anno comments: PDZ 1
up seq anno comments: PDZ 2
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000331624
up seq anno feature ids: VAR_042909

9606:NUP155
gene id: 9606:NUP155
uniprot id: B4DLT2
uniprot id: E9PF10
uniprot id: O75694
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In ATFB15; fails to accumulate at various foci of the nuclear envelope and is diffusely distributed in the cytoplasm; shows significantly reduced permeability of the nuclear envelope compared to wild-type.
up seq anno comments: In isoform 2.
up seq anno comments: Nuclear pore complex protein Nup155
up seq anno comments: Nucleoporin Nup133/Nup155-like C-terminal
up seq anno comments: Nucleoporin Nup133/Nup155-like N-terminal
up seq anno comments: O-linked (GlcNAc) serine
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000204844
up seq anno feature ids: VAR_071762
up seq anno feature ids: VSP_014437

9606:BMP8A
gene id: 9606:BMP8A
uniprot id: Q7Z5Y6
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Propeptide
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Bone morphogenetic protein 8A
up seq anno comments: Interchain
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000227896
up seq anno feature ids: PRO_0000227897
up seq anno feature ids: VAR_052571
up seq anno feature ids: VAR_059859

9606:ZNF462
gene id: 9606:ZNF462
uniprot id: Q63HJ5
uniprot id: Q96JM2
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 12
up seq anno comments: C2H2-type 13
up seq anno comments: C2H2-type 14
up seq anno comments: C2H2-type 15
up seq anno comments: C2H2-type 16
up seq anno comments: C2H2-type 17
up seq anno comments: C2H2-type 18; degenerate
up seq anno comments: C2H2-type 19
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 20
up seq anno comments: C2H2-type 21
up seq anno comments: C2H2-type 22
up seq anno comments: C2H2-type 23
up seq anno comments: C2H2-type 24
up seq anno comments: C2H2-type 25
up seq anno comments: C2H2-type 26
up seq anno comments: C2H2-type 27
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: In WSKA.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Interaction with PBX1
up seq anno comments: N6-methyllysine
up seq anno comments: O-linked (GlcNAc6P) serine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Zinc finger protein 462
up seq anno feature ids: PRO_0000047601
up seq anno feature ids: VAR_058301
up seq anno feature ids: VAR_058302
up seq anno feature ids: VAR_058303

9606:NXT1
gene id: 9606:NXT1
uniprot id: Q9UKK6
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 57% reduction in mRNA export activity and loss of nuclear rim staining.
up seq anno comments: 70% reduction in mRNA export activity.
up seq anno comments: N-acetylalanine
up seq anno comments: NTF2
up seq anno comments: NTF2-related export protein 1
up seq anno comments: Removed
up seq anno feature ids: PRO_0000194793

9606:CACNA1D
gene id: 9606:CACNA1D
uniprot id: A0A1B0GUN6
uniprot id: Q01668
uniprot id: Q59GD8
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Binding to the beta subunit
up seq anno comments: Cytoplasmic
up seq anno comments: Dihydropyridine binding
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Helical; Name=S1 of repeat I
up seq anno comments: Helical; Name=S1 of repeat II
up seq anno comments: Helical; Name=S1 of repeat III
up seq anno comments: Helical; Name=S1 of repeat IV
up seq anno comments: Helical; Name=S2 of repeat I
up seq anno comments: Helical; Name=S2 of repeat II
up seq anno comments: Helical; Name=S2 of repeat III
up seq anno comments: Helical; Name=S2 of repeat IV
up seq anno comments: Helical; Name=S3 of repeat I
up seq anno comments: Helical; Name=S3 of repeat II
up seq anno comments: Helical; Name=S3 of repeat III
up seq anno comments: Helical; Name=S3 of repeat IV
up seq anno comments: Helical; Name=S4 of repeat I
up seq anno comments: Helical; Name=S4 of repeat II
up seq anno comments: Helical; Name=S4 of repeat III
up seq anno comments: Helical; Name=S4 of repeat IV
up seq anno comments: Helical; Name=S5 of repeat I
up seq anno comments: Helical; Name=S5 of repeat II
up seq anno comments: Helical; Name=S5 of repeat III
up seq anno comments: Helical; Name=S5 of repeat IV
up seq anno comments: Helical; Name=S6 of repeat I
up seq anno comments: Helical; Name=S6 of repeat II
up seq anno comments: Helical; Name=S6 of repeat III
up seq anno comments: Helical; Name=S6 of repeat IV
up seq anno comments: I
up seq anno comments: II
up seq anno comments: III
up seq anno comments: IV
up seq anno comments: In PASNA; the mutant channel is activated at less depolarized potentials; results in increased current density and impaired channel inactivation.
up seq anno comments: In PASNA; the mutant channel is activated at less depolarized potentials; results in increased current density.

9606:SURF6
gene id: 9606:SURF6
uniprot id: O75683
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Disordered
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Surfeit locus protein 6
up seq anno feature ids: PRO_0000220969
up seq anno feature ids: VAR_014532
up seq anno feature ids: VAR_014533
up seq anno feature ids: VAR_014534
up seq anno feature ids: VAR_052199
up seq anno feature ids: VAR_052200

9606:CYBA
gene id: 9606:CYBA
uniprot id: B4DT46
uniprot id: H3BNP7
uniprot id: P13498
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: INTRAMEM
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Helix
up seq anno labels: INTRAMEM
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
up seq anno comments: Cytochrome b-245 light chain
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Helical
up seq anno comments: In CGD4.
up seq anno comments: Loss of interaction with NOXO1.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno comments: axial binding residue
up seq anno feature ids: PRO_0000144907
up seq anno feature ids: VAR_005122
up seq anno feature ids: VAR_005123
up seq anno feature ids: VAR_005124
up seq anno feature ids: VAR_005125
up seq anno feature ids: VAR_005126
up seq anno feature ids: VAR_012755
up seq anno feature ids: VAR_054801
up seq anno feature ids: VAR_060576
up seq anno feature ids: VAR_060577
up seq anno feature ids: VAR_060578
up seq anno feature ids: VAR_060579
up seq anno feature ids: VAR_060580
up seq anno feature ids: VAR_060581
up seq anno feature ids: VAR_060582
up seq anno feature ids: VAR_060583
up seq anno feature ids: VAR_071860

9606:ARSI
gene id: 9606:ARSI
uniprot id: Q5FYB1
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: 3-oxoalanine (Cys)
up seq anno comments: Arylsulfatase I
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No arylsulfatase activity in the media of retinal epithelium cell.
up seq anno comments: Nucleophile
up seq anno comments: via 3-oxoalanine
up seq anno feature ids: PRO_0000042216
up seq anno feature ids: VSP_036022

9606:KIAA1586
gene id: 9606:KIAA1586
uniprot id: B4DIC2
uniprot id: F5H2N6
uniprot id: Q9HCI6
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: E3 SUMO-protein ligase KIAA1586
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with SUMO2 1
up seq anno comments: Interaction with SUMO2 2
up seq anno comments: PSRP
up seq anno comments: Sufficient for E3 SUMO-protein ligase activity
up seq anno feature ids: PRO_0000320680
up seq anno feature ids: VAR_039276
up seq anno feature ids: VAR_039277
up seq anno feature ids: VSP_031740

9606:PGLYRP3
gene id: 9606:PGLYRP3
uniprot id: Q96LB9
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Interaction with murein
up seq anno comments: N-acetylmuramoyl-L-alanine amidase 1
up seq anno comments: N-acetylmuramoyl-L-alanine amidase 2
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Peptidoglycan recognition protein 3
up seq anno feature ids: PRO_0000023923
up seq anno feature ids: VAR_024561
up seq anno feature ids: VAR_061515

9606:LRCH2
gene id: 9606:LRCH2
uniprot id: Q5VUJ6
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Calponin-homology (CH)
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: LRR 1
up seq anno comments: LRR 2
up seq anno comments: LRR 3
up seq anno comments: LRR 4
up seq anno comments: LRR 5
up seq anno comments: LRR 6
up seq anno comments: LRR 7
up seq anno comments: LRR 8
up seq anno comments: LRR 9
up seq anno comments: Leucine-rich repeat and calponin homology domain-containing protein 2
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000253482
up seq anno feature ids: VSP_044969

9606:MFN2
gene id: 9606:MFN2
uniprot id: O95140
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Abolishes the targeting to mitochondrial outer membrane.
up seq anno comments: Cytoplasmic
up seq anno comments: Diminishes interaction with PRKN in presence of PINK1. Abolishes phosphorylation by PINK1 and interaction with PRKN in presence of PINK1; when associated with Ala-111.
up seq anno comments: Diminishes interaction with PRKN in presence of PINK1. Abolishes phosphorylation by PINK1 and interaction with PRKN in presence of PINK1; when associated with Ala-442.
up seq anno comments: Does not affect its ability to cluster mitochondria; when overexpressed.
up seq anno comments: Does not affect the targeting to mitochondrial outer membrane.
up seq anno comments: Dynamin-type G
up seq anno comments: Found in a patient with hereditary motor and sensory neuropathy; unknown pathological significance.
up seq anno comments: Found in a patient with hereditary motor neuropathy; unknown pathological significance.
up seq anno comments: Found in a patient with intermediate Charcot-Marie-Tooth disease; unknown pathological significance.
up seq anno comments: G1 motif
up seq anno comments: G2 motif
up seq anno comments: G3 motif
up seq anno comments: G4 motif
up seq anno comments: G5 motif
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: In CMT2A2A and CMT2A2B; decreased function in mitochondrial fusion; reduced homo-oligomerization; no effect on hetero-oligomerization with MFN1.
up seq anno comments: In CMT2A2A, CMT2A2B and HMSN6A.
up seq anno comments: In CMT2A2A.
up seq anno comments: In CMT2A2A; also found in patients with an unclassified form of Charcot-Marie-Tooth disease; unknown pathological significance.
up seq anno comments: In CMT2A2A; requires 2 nucleotide substitutions.
up seq anno comments: In CMT2A2A; unknown pathological significance.
up seq anno comments: In CMT2A2B.
up seq anno comments: In CMT2A2B; unknown pathological significance.
up seq anno comments: In HMSN6A and CMT2A2A.
up seq anno comments: In HMSN6A.
up seq anno comments: In HMSN6A; severely reduced homo-oligomerization; no effect on hetero-oligomerization with MFN1.
up seq anno comments: In isoform 2.
up seq anno comments: Interacts with PRKN in absence of PINK1; when associated with Glu-111.
up seq anno comments: Interacts with PRKN in absence of PINK1; when associated with Glu-442.
up seq anno comments: Loss of function in promoting mitochondrial fusion.
up seq anno comments: Mitochondrial intermembrane
up seq anno comments: Mitofusin-2
up seq anno comments: Part of a helix bundle domain, formed by helices from N-terminal and C-terminal regions
up seq anno comments: Phosphoserine; by PINK1
up seq anno comments: Phosphothreonine; by PINK1
up seq anno feature ids: PRO_0000127675
up seq anno feature ids: VAR_018607
up seq anno feature ids: VAR_018608
up seq anno feature ids: VAR_018609
up seq anno feature ids: VAR_018610

9606:FLT1
gene id: 9606:FLT1
uniprot id: L7RSL3
uniprot id: P17948
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Abolishes enzyme activity. Abolishes interaction with PLCG.
up seq anno comments: Abolishes proteolytic cleavage by PSEN1.
up seq anno comments: Cleavage; by PSEN1
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Ig-like
up seq anno comments: Ig-like C2-type 1
up seq anno comments: Ig-like C2-type 2
up seq anno comments: Ig-like C2-type 3
up seq anno comments: Ig-like C2-type 4
up seq anno comments: Ig-like C2-type 5
up seq anno comments: Ig-like C2-type 6
up seq anno comments: Ig-like C2-type 7
up seq anno comments: In a bladder transitional cell carcinoma sample; somatic mutation.
up seq anno comments: In a glioma low grade oligodendroglioma sample; somatic mutation.
up seq anno comments: In a lung adenocarcinoma sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: In isoform 7.
up seq anno comments: In isoform 8.
up seq anno comments: Loss of phosphorylation site.
up seq anno comments: Loss of phosphorylation site. Abolishes interaction with CBL.
up seq anno comments: Loss of phosphorylation site. Abolishes interaction with PIK3R1.
up seq anno comments: Loss of phosphorylation site. Abolishes interaction with PLCG.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphotyrosine; by autocatalysis
up seq anno comments: Polar residues

9606:CGNL1
gene id: 9606:CGNL1
uniprot id: Q0VF96
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Cingulin-like protein 1
up seq anno comments: Disordered
up seq anno comments: Head
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Tail
up seq anno comments: ZIM
up seq anno feature ids: PRO_0000312875
up seq anno feature ids: VAR_037606
up seq anno feature ids: VAR_037607
up seq anno feature ids: VAR_037608
up seq anno feature ids: VAR_037609
up seq anno feature ids: VAR_037610
up seq anno feature ids: VSP_029946

9606:TMEM45B
gene id: 9606:TMEM45B
uniprot id: Q96B21
up seq anno parent labels: Chain
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: Phosphoserine
up seq anno comments: Transmembrane protein 45B
up seq anno feature ids: PRO_0000271199
up seq anno feature ids: VAR_029866

9606:PRAMEF19
gene id: 9606:PRAMEF19
uniprot id: Q5SWL8
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno labels: Chain
up seq anno labels: Repeat
up seq anno comments: LRR 1
up seq anno comments: LRR 1; degenerate
up seq anno comments: LRR 2; degenerate
up seq anno comments: LRR 3; degenerate
up seq anno comments: LRR 4; degenerate
up seq anno comments: LRR 5
up seq anno comments: LRR 6
up seq anno comments: LRR 7
up seq anno comments: LRR 8
up seq anno comments: LRR 9
up seq anno comments: PRAME family member 19
up seq anno feature ids: PRO_0000290167

9606:SLC16A11
gene id: 9606:SLC16A11
uniprot id: Q8NCK7
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: Monocarboxylate transporter 11
up seq anno comments: Risk factor for T2D when associated with G-127, S-340 and T-443; reduced pyruvate transmembrane transporter activity, loss of interaction with BSG and decreased localization to plasma membrane when associated with G-127, S-340 and T-443.
up seq anno comments: Risk factor for T2D when associated with I-113, G-127 and S-340; reduced pyruvate transmembrane transporter activity, loss of interaction with BSG and decreased localization to plasma membrane when associated with I-113, G-127 and S-340.
up seq anno comments: Risk factor for T2D when associated with I-113, G-127 and T-443; reduced pyruvate transmembrane transporter activity, loss of interaction with BSG and decreased localization to plasma membrane when associated with I-113, G-127 and T-443.
up seq anno comments: Risk factor for T2D when associated with I-113, S-340 and T-443; reduced pyruvate transmembrane transporter activity, loss of interaction with BSG and decreased localization to plasma membrane when associated with I-113, S-340 and T-443.
up seq anno feature ids: PRO_0000286673
up seq anno feature ids: VAR_032157
up seq anno feature ids: VAR_070544
up seq anno feature ids: VAR_070545
up seq anno feature ids: VAR_070546

9606:EFCAB13
gene id: 9606:EFCAB13
uniprot id: Q8IY85
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: EF-hand 1
up seq anno comments: EF-hand 2
up seq anno comments: EF-hand 3
up seq anno comments: EF-hand 4
up seq anno comments: EF-hand 5
up seq anno comments: EF-hand 6
up seq anno comments: EF-hand calcium-binding domain-containing protein 13
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000281110
up seq anno feature ids: VAR_031228
up seq anno feature ids: VAR_031229
up seq anno feature ids: VAR_035465
up seq anno feature ids: VAR_061091
up seq anno feature ids: VSP_047187
up seq anno feature ids: VSP_047188
up seq anno feature ids: VSP_047189

9606:PDE2A
gene id: 9606:PDE2A
uniprot id: O00408
uniprot id: Q8IW54
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Lipid Binding
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Decreased 3',5'-cyclic-AMP phosphodiesterase activity. Decreased 3',5'-cyclic-GMP phosphodiesterase activity.
up seq anno comments: Decreased 3',5'-cyclic-AMP phosphodiesterase activity. Increased 3',5'-cyclic-GMP phosphodiesterase activity.
up seq anno comments: Decreased 3',5'-cyclic-AMP phosphodiesterase activity. Loss of 3',5'-cyclic-GMP phosphodiesterase activity.
up seq anno comments: Decreased 3',5'-cyclic-AMP phosphodiesterase activity. No effect on 3',5'-cyclic-GMP phosphodiesterase activity.
up seq anno comments: Disordered
up seq anno comments: GAF 1
up seq anno comments: GAF 2
up seq anno comments: In IDDPADS.
up seq anno comments: In IDDPADS; unknown pathological significance.
up seq anno comments: In IDDPADS; unknown pathological significance; loss of 3',5'-cyclic-AMP phosphodiesterase activity; loss of 3',5'-cyclic-GMP phosphodiesterase activity.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: In isoform PDE2A1 and isoform 6.
up seq anno comments: In isoform PDE2A2 and isoform 5.
up seq anno comments: In isoform PDE2A4.
up seq anno comments: Loss of 3',5'-cyclic-AMP phosphodiesterase activity. Decreased 3',5'-cyclic-GMP phosphodiesterase activity.
up seq anno comments: Loss of 3',5'-cyclic-AMP phosphodiesterase activity. Loss of 3',5'-cyclic-GMP phosphodiesterase activity.
up seq anno comments: N-myristoyl glycine
up seq anno comments: No effect on 3',5'-cyclic-AMP phosphodiesterase activity. Decreased 3',5'-cyclic-GMP phosphodiesterase activity.
up seq anno comments: PDEase
up seq anno comments: Proton donor
up seq anno comments: Removed
up seq anno comments: S-palmitoyl cysteine
up seq anno comments: cGMP-dependent 3',5'-cyclic phosphodiesterase
up seq anno feature ids: PRO_0000198796
up seq anno feature ids: VAR_024170
up seq anno feature ids: VAR_085242
up seq anno feature ids: VAR_085243
up seq anno feature ids: VAR_085244
up seq anno feature ids: VSP_055315
up seq anno feature ids: VSP_055316
up seq anno feature ids: VSP_055317
up seq anno feature ids: VSP_055318
up seq anno feature ids: VSP_055319
up seq anno feature ids: VSP_055320

9606:LYRM4
gene id: 9606:LYRM4
uniprot id: C9JRX8
uniprot id: C9JY28
uniprot id: F5H189
uniprot id: Q9HD34
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Turn
up seq anno comments: Complex 1 LYR protein
up seq anno comments: Disordered
up seq anno comments: In COXPD19; can form a normal complex with NFS1 but the desulfurase enzymatic activity of this complex is severely decreased compared to control.
up seq anno comments: LYR motif-containing protein 4
up seq anno comments: N6-succinyllysine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000174308
up seq anno feature ids: VAR_024551
up seq anno feature ids: VAR_070943

9606:RNF38
gene id: 9606:RNF38
uniprot id: Q9H0F5
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Bipartite nuclear localization signal 1
up seq anno comments: Bipartite nuclear localization signal 2
up seq anno comments: Disordered
up seq anno comments: E3 ubiquitin-protein ligase RNF38
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: Polar residues
up seq anno comments: RING-type
up seq anno feature ids: PRO_0000056078
up seq anno feature ids: VAR_055400
up seq anno feature ids: VSP_012243
up seq anno feature ids: VSP_037337
up seq anno feature ids: VSP_053845
up seq anno feature ids: VSP_053846
up seq anno feature ids: VSP_053847

9606:RCOR3
gene id: 9606:RCOR3
uniprot id: Q9P2K3
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Asymmetric dimethylarginine
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: ELM2
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2, isoform 3 and isoform 4.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 4.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: REST corepressor 3
up seq anno comments: SANT 1
up seq anno comments: SANT 2
up seq anno feature ids: PRO_0000226781
up seq anno feature ids: VAR_025517
up seq anno feature ids: VSP_017460
up seq anno feature ids: VSP_017461
up seq anno feature ids: VSP_017462
up seq anno feature ids: VSP_041465
up seq anno feature ids: VSP_041466

9606:MRAS
gene id: 9606:MRAS
uniprot id: O14807
uniprot id: Q6FGP0
uniprot id: Q8WVM9
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Non-terminal Residue
up seq anno labels: Propeptide
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Cysteine methyl ester
up seq anno comments: Effector region
up seq anno comments: In NS11.
up seq anno comments: In NS11; constitutively active form; increased GTPase activity.
up seq anno comments: In isoform 2.
up seq anno comments: Ras-related protein M-Ras
up seq anno comments: Removed in mature form
up seq anno comments: S-geranylgeranyl cysteine
up seq anno feature ids: PRO_0000082654
up seq anno feature ids: PRO_0000281304
up seq anno feature ids: VAR_083112
up seq anno feature ids: VAR_083113
up seq anno feature ids: VAR_083114
up seq anno feature ids: VSP_044792

9606:ANKRD27
gene id: 9606:ANKRD27
uniprot id: Q96NW4
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: ANK 1
up seq anno comments: ANK 10
up seq anno comments: ANK 11
up seq anno comments: ANK 2
up seq anno comments: ANK 3
up seq anno comments: ANK 4
up seq anno comments: ANK 5
up seq anno comments: ANK 6
up seq anno comments: ANK 7
up seq anno comments: ANK 8
up seq anno comments: ANK 9
up seq anno comments: Ankyrin repeat domain-containing protein 27
up seq anno comments: Disordered
up seq anno comments: Disrupts interaction with RAB32.
up seq anno comments: Disrupts interaction with VAMP7.
up seq anno comments: Disrupts interaction with VPS29; when associated with A-432.
up seq anno comments: Disrupts interaction with VPS29; when associated with A-434.
up seq anno comments: Disrupts interaction with VPS29; when associated with A-712.
up seq anno comments: Disrupts interaction with VPS29; when associated with A-714.
up seq anno comments: Impairs interaction with RAB32.
up seq anno comments: Interaction with RAB32
up seq anno comments: Interaction with RAB38
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Required for interaction with VAMP7
up seq anno comments: Sufficient for GEF activity towards RAB21
up seq anno comments: Sufficient for interaction with VPS29
up seq anno comments: VPS9
up seq anno feature ids: PRO_0000274556
up seq anno feature ids: VAR_030317
up seq anno feature ids: VAR_030318

9606:SAPCD1
gene id: 9606:SAPCD1
uniprot id: A0A1U9X8I8
uniprot id: Q5SSQ6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno comments: Suppressor APC domain-containing protein 1
up seq anno feature ids: PRO_0000244082
up seq anno feature ids: VAR_056889
up seq anno feature ids: VAR_056890
up seq anno feature ids: VSP_040223

9606:BTN3A2
gene id: 9606:BTN3A2
uniprot id: A8K4B5
uniprot id: P78410
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Butyrophilin subfamily 3 member A2
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Ig-like
up seq anno comments: Ig-like V-type
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000014533
up seq anno feature ids: PRO_5002725439
up seq anno feature ids: VAR_026211
up seq anno feature ids: VAR_049833
up seq anno feature ids: VAR_049834
up seq anno feature ids: VAR_049835
up seq anno feature ids: VAR_049836
up seq anno feature ids: VSP_045906
up seq anno feature ids: VSP_045907

9606:SREBF2
gene id: 9606:SREBF2
uniprot id: Q12772
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Abolished transactivation activity.
up seq anno comments: Cleavage; by MBTPS1
up seq anno comments: Cleavage; by MBTPS2
up seq anno comments: Cleavage; by caspase-3 and caspase-7
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Helical
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with LMNA
up seq anno comments: Leucine-zipper
up seq anno comments: Loss of cleavage by S2P.
up seq anno comments: Loss of proteolytic processing in response to low sterol.
up seq anno comments: Lumenal
up seq anno comments: No effect on cleavage by S2P.
up seq anno comments: No effect on proteolytic processing in response to low sterol.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Processed sterol regulatory element-binding protein 2
up seq anno comments: Reduced cleavage by S2P.
up seq anno comments: Restores cleavage by S2P; when associated with F-495 and L-496. No effect on site of cleavage by S2P.
up seq anno comments: Sterol regulatory element-binding protein 2
up seq anno comments: Transcriptional activation (acidic)
up seq anno comments: bHLH
up seq anno feature ids: PRO_0000127452
up seq anno feature ids: PRO_0000314033
up seq anno feature ids: VAR_028440
up seq anno feature ids: VAR_028441
up seq anno feature ids: VAR_036394
up seq anno feature ids: VAR_036395
up seq anno feature ids: VAR_049550
up seq anno feature ids: VAR_049551
up seq anno feature ids: VSP_054283
up seq anno feature ids: VSP_054284
up seq anno feature ids: VSP_054285

9606:BCS1L
gene id: 9606:BCS1L
uniprot id: A0A024R445
uniprot id: A8JZZ8
uniprot id: Q9Y276
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: AAA+ ATPase
up seq anno comments: BCS1 N-terminal
up seq anno comments: Helical
up seq anno comments: In BJS.
up seq anno comments: In BJS; with mild mitochondrial complex III deficiency.
up seq anno comments: In GRACILE.
up seq anno comments: In MC3DN1 and BJS; with mild mitochondrial complex III deficiency; causes a decreased incorporation of the Rieske iron-sulfur protein UQCRFS1 into complex III.
up seq anno comments: In MC3DN1.
up seq anno comments: In MC3DN1; abolishes interaction with LETM1.
up seq anno comments: In MC3DN1; causes a decreased incorporation of the Rieske iron-sulfur protein UQCRFS1 into complex III.
up seq anno comments: Mitochondrial chaperone BCS1
up seq anno comments: Mitochondrial intermembrane
up seq anno comments: Mitochondrial matrix
up seq anno comments: Phosphotyrosine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000084772
up seq anno feature ids: VAR_018149
up seq anno feature ids: VAR_018159
up seq anno feature ids: VAR_018160
up seq anno feature ids: VAR_018161
up seq anno feature ids: VAR_018162
up seq anno feature ids: VAR_018163
up seq anno feature ids: VAR_018164
up seq anno feature ids: VAR_032086
up seq anno feature ids: VAR_032087
up seq anno feature ids: VAR_032088
up seq anno feature ids: VAR_032089
up seq anno feature ids: VAR_032090
up seq anno feature ids: VAR_032091
up seq anno feature ids: VAR_032092
up seq anno feature ids: VAR_064615
up seq anno feature ids: VAR_064616
up seq anno feature ids: VAR_064617
up seq anno feature ids: VAR_064618
up seq anno feature ids: VAR_072243
up seq anno feature ids: VAR_072244

9606:HEBP2
gene id: 9606:HEBP2
uniprot id: Q5THN1
uniprot id: Q9Y5Z4
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Disordered
up seq anno comments: Heme-binding protein 2
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000116900
up seq anno feature ids: VAR_053364
up seq anno feature ids: VAR_053365
up seq anno feature ids: VSP_017057

9606:DEFB131B
gene id: 9606:DEFB131B
uniprot id: A0A096LNP1
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Peptide
up seq anno parent labels: Signal Peptide
up seq anno labels: Disulfide Bond
up seq anno labels: Peptide
up seq anno labels: Signal Peptide
up seq anno comments: Beta-defensin 131B
up seq anno feature ids: PRO_0000441044

9606:DPP4
gene id: 9606:DPP4
uniprot id: P27487
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Charge relay system
up seq anno comments: Cytoplasmic
up seq anno comments: Dipeptidyl peptidase 4 membrane form
up seq anno comments: Dipeptidyl peptidase 4 soluble form
up seq anno comments: Does not inhibit dipeptidyl peptidase activity, interaction with ADA and homodimer formation.
up seq anno comments: Extracellular
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: Inhibits dipeptidyl peptidase activity.
up seq anno comments: Inhibits strongly homodimerization, dipeptidyl peptidase activity, interaction with CARD11 and T-cell costimulation activity.
up seq anno comments: Inhibits weakly homodimerization and dipeptidyl peptidase activity.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000027213
up seq anno feature ids: PRO_0000027214
up seq anno feature ids: VAR_084545

9606:SLC45A2
gene id: 9606:SLC45A2
uniprot id: A0A076YGN1
uniprot id: A0A076YIB8
uniprot id: D6RGY6
uniprot id: Q9UMX9
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Associated with variability of hair, eye and skin pigmentation; in Caucasians associated with dark hair, skin and eye color; strong protective effect for melanoma risk.
up seq anno comments: Associated with variability of hair, eye and skin pigmentation; in Caucasians associated with dark hair, skin and eye color; strong protective effect for melanoma risk; decreased protein stability; no effect on subcellular location.
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=10
up seq anno comments: Helical; Name=11
up seq anno comments: Helical; Name=12
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: Helical; Name=8
up seq anno comments: Helical; Name=9
up seq anno comments: In OCA4.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Membrane-associated transporter protein
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000122517
up seq anno feature ids: VAR_012162
up seq anno feature ids: VAR_022710
up seq anno feature ids: VAR_022711
up seq anno feature ids: VAR_022712
up seq anno feature ids: VAR_022713
up seq anno feature ids: VAR_022714
up seq anno feature ids: VAR_022715
up seq anno feature ids: VAR_022716
up seq anno feature ids: VAR_022717
up seq anno feature ids: VAR_022718
up seq anno feature ids: VAR_022719
up seq anno feature ids: VAR_022720
up seq anno feature ids: VAR_022721
up seq anno feature ids: VAR_022722
up seq anno feature ids: VAR_067071
up seq anno feature ids: VAR_067072
up seq anno feature ids: VAR_067073
up seq anno feature ids: VAR_067074
up seq anno feature ids: VAR_072602
up seq anno feature ids: VAR_073166
up seq anno feature ids: VAR_073167
up seq anno feature ids: VAR_073168
up seq anno feature ids: VAR_073169
up seq anno feature ids: VAR_073170
up seq anno feature ids: VAR_073171
up seq anno feature ids: VAR_073172
up seq anno feature ids: VSP_006296
up seq anno feature ids: VSP_006297
up seq anno feature ids: VSP_006298
up seq anno feature ids: VSP_006299
up seq anno feature ids: VSP_041220
up seq anno feature ids: VSP_041221

9606:HNRNPH3
gene id: 9606:HNRNPH3
uniprot id: B4DHY1
uniprot id: P31942
uniprot id: Q53F48
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Asymmetric dimethylarginine
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Heterogeneous nuclear ribonucleoprotein H3
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4 and isoform 5.
up seq anno comments: In isoform 5 and isoform 6.
up seq anno comments: In isoform 6.
up seq anno comments: N-acetylmethionine
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: RRM
up seq anno comments: RRM 1
up seq anno comments: RRM 2
up seq anno feature ids: PRO_0000081861
up seq anno feature ids: VAR_020333
up seq anno feature ids: VAR_052226
up seq anno feature ids: VSP_005838
up seq anno feature ids: VSP_005839
up seq anno feature ids: VSP_005840
up seq anno feature ids: VSP_005841
up seq anno feature ids: VSP_005842
up seq anno feature ids: VSP_005843
up seq anno feature ids: VSP_005844

9606:FOXRED1
gene id: 9606:FOXRED1
uniprot id: B4DXM1
uniprot id: Q96CU9
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: FAD dependent oxidoreductase
up seq anno comments: FAD-dependent oxidoreductase domain-containing protein 1
up seq anno comments: Helical
up seq anno comments: In MC1DN19.
up seq anno comments: In MC1DN19; hypomorphic variant in vitro.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: No effect. Able to restore complex I assembly when expressed in cells lacking FOXRED1.
up seq anno comments: Not able to restore complex I assembly when expressed in cells lacking FOXRED1.
up seq anno feature ids: PRO_0000274142
up seq anno feature ids: VAR_030192
up seq anno feature ids: VAR_033856
up seq anno feature ids: VAR_051003
up seq anno feature ids: VAR_064571
up seq anno feature ids: VAR_073273
up seq anno feature ids: VAR_081414
up seq anno feature ids: VSP_022629
up seq anno feature ids: VSP_039003

9606:FAAH
gene id: 9606:FAAH
uniprot id: O00519
uniprot id: Q9UG55
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: INTRAMEM
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: INTRAMEM
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Acyl-ester intermediate
up seq anno comments: Amidase
up seq anno comments: Associated with susceptibility to drug abuse; the mutant enzyme is more sensitive to proteolytic degradation; displays reduced cellular expression probably due to a post-translational mechanism preceding productive folding.
up seq anno comments: Charge relay system
up seq anno comments: Cytoplasmic
up seq anno comments: Fatty-acid amide hydrolase 1
up seq anno comments: Helical
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000105264
up seq anno feature ids: VAR_013563
up seq anno feature ids: VAR_035704

9606:JAG2
gene id: 9606:JAG2
uniprot id: Q9Y219
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: DSL
up seq anno comments: Disordered
up seq anno comments: EGF-like 1
up seq anno comments: EGF-like 10; atypical
up seq anno comments: EGF-like 11; calcium-binding
up seq anno comments: EGF-like 12; calcium-binding
up seq anno comments: EGF-like 13
up seq anno comments: EGF-like 14
up seq anno comments: EGF-like 15; calcium-binding
up seq anno comments: EGF-like 16; calcium-binding
up seq anno comments: EGF-like 2; atypical
up seq anno comments: EGF-like 3
up seq anno comments: EGF-like 4
up seq anno comments: EGF-like 5; calcium-binding
up seq anno comments: EGF-like 6; calcium-binding
up seq anno comments: EGF-like 7; calcium-binding
up seq anno comments: EGF-like 8
up seq anno comments: EGF-like 9
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In LGMDR27.
up seq anno comments: In LGMDR27; unknown pathological significance.
up seq anno comments: In isoform Short.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Protein jagged-2
up seq anno comments: VWFC
up seq anno feature ids: PRO_0000007629
up seq anno feature ids: VAR_028113
up seq anno feature ids: VAR_048986
up seq anno feature ids: VAR_086389
up seq anno feature ids: VAR_086390
up seq anno feature ids: VAR_086391
up seq anno feature ids: VAR_086392
up seq anno feature ids: VAR_086393
up seq anno feature ids: VAR_086394
up seq anno feature ids: VAR_086395
up seq anno feature ids: VAR_086396
up seq anno feature ids: VAR_086397

9606:ERCC6
gene id: 9606:ERCC6
uniprot id: A8K4Q3
uniprot id: P0DP91
uniprot id: Q03468
uniprot id: Q59FF6
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Chimeric ERCC6-PGBD3 protein
up seq anno comments: DEAH box
up seq anno comments: DNA excision repair protein ERCC-6
up seq anno comments: Disordered
up seq anno comments: Essential for its interaction with RNA polymerase II, transcription-coupled nucleotide excision repair activity, association with chromatin after UV irradiation and for mediating the UV-induced translocation of ERRC8 to the nuclear matrix
up seq anno comments: Fails to bind polyubiquitin chains.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO3)
up seq anno comments: Helicase ATP-binding
up seq anno comments: Helicase C-terminal
up seq anno comments: In COFS1.
up seq anno comments: In CSB.
up seq anno comments: In CSB; DNA-dependent ATPase-dead mutant; loss of chromatin remodeling activity; loss of its ability to inhibit non-homologous end joining-mediated repair and promote homologous recombination-mediated repair of DNA double-strand breaks; loss of its ability to suppress premature exit from G2/M checkpoint; abrogation of its UV-induced chromatin association.
up seq anno comments: In POF11; weaker cellular response to DNA damage as indicated by delayed recruitment of mutant protein to DNA damaged sites, compared to ERCC6 isoform 1; no effect on interaction with RNA polymerase II either after UV or H(2)O(2) damage.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: Interchain
up seq anno comments: Loss of interaction with RIF1; when associated with G-1470 and G-1486.
up seq anno comments: Loss of interaction with RIF1; when associated with G-1470 and G-1488.
up seq anno comments: Loss of interaction with RIF1; when associated with G-1486 and G-1488.
up seq anno comments: Loss of sumoylation and defects in transcription-coupled nucleotide excision repair.
up seq anno comments: N-terminal domain; essential for its chromatin remodeling activity
up seq anno comments: N6-methylated lysine; by EHMT2
up seq anno comments: No loss of sumoylation; when associated with R-1457 and R-1487. No loss of sumoylation; when associated with R-1487.
up seq anno comments: No loss of sumoylation; when associated with R-1457 and R-1489. No loss of sumoylation; when associated with R-1489.
up seq anno comments: No loss of sumoylation; when associated with R-1487 and R-1489.
up seq anno comments: Non-phosphorylatable by ATM. Loss of chromatin remodeling activity and its ability to promote the intramolecular interaction of the N-terminal domain with the helicase ATP-binding domain.
up seq anno comments: Non-phosphorylatable by CDK2. Loss of chromatin remodeling activity and its ability to promote the intramolecular interaction of the N-terminal domain with the helicase ATP-binding domain.
up seq anno comments: Phosphomimetic mutant. No loss of chromatin remodeling activity and its ability to promote the intramolecular interaction of the N-terminal domain with the helicase ATP-binding domain.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by ATM
up seq anno comments: Phosphoserine; by CDK2
up seq anno comments: PiggyBac transposable element-derived protein
up seq anno comments: Polar residues
up seq anno comments: Ubiquitin-binding domain (UBD)

9606:PIM3
gene id: 9606:PIM3
uniprot id: Q86V86
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Serine/threonine-protein kinase pim-3
up seq anno feature ids: PRO_0000086533

9606:TMEM33
gene id: 9606:TMEM33
uniprot id: P57088
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Helical
up seq anno comments: Lumenal
up seq anno comments: N-acetylalanine
up seq anno comments: Removed
up seq anno comments: Transmembrane protein 33
up seq anno feature ids: PRO_0000220899

9606:RPA1
gene id: 9606:RPA1
uniprot id: P27694
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: DNA Binding
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: DNA Binding
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: C4-type
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
up seq anno comments: In PFBMFT6; results in shortened telomeres and impaired hematopoiesis when expressed in iPSC-derived hematopoietic cells; increased single-stranded DNA binding; increased telomeric DNA binding; has no effect on the formation of canonical replication protein A complex.
up seq anno comments: In PFBMFT6; unknown pathological significance; has DNA-binding properties similar to the wild-type; has no effect on the formation of canonical replication protein A complex.
up seq anno comments: In PFBMFT6; unknown pathological significance; increased single-stranded DNA binding; increased telomeric DNA binding; has no effect on the formation of canonical replication protein A complex.
up seq anno comments: Loss of HELB-binding; when associated with E-41.
up seq anno comments: Loss of HELB-binding; when associated with E-43.
up seq anno comments: Loss of function in DNA replication and mismatch repair without effect on DNA-binding activity; when associated with S-500.
up seq anno comments: Loss of function in DNA replication and mismatch repair without effect on DNA-binding activity; when associated with S-503.
up seq anno comments: N-acetylmethionine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: OB
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Removed; alternate
up seq anno comments: Replication protein A 70 kDa DNA-binding subunit
up seq anno comments: Replication protein A 70 kDa DNA-binding subunit, N-terminally processed
up seq anno comments: Significant reduction of sumoylation. Loss of sumoylation; when associated with R-577.
up seq anno comments: Slight sumoylation decrease. Loss of sumoylation; when associated with R-449.
up seq anno feature ids: PRO_0000097260
up seq anno feature ids: PRO_0000423231
up seq anno feature ids: VAR_019236
up seq anno feature ids: VAR_086965
up seq anno feature ids: VAR_086966
up seq anno feature ids: VAR_086967

9606:HS6ST2
gene id: 9606:HS6ST2
uniprot id: Q96MM7
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: Heparan-sulfate 6-O-sulfotransferase 2
up seq anno comments: In MRXSPM; unknown pathological significance; reduced sulfotransferase activity; no effect on protein levels.
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000190805
up seq anno feature ids: VAR_061828
up seq anno feature ids: VAR_082055
up seq anno feature ids: VSP_015846
up seq anno feature ids: VSP_015847

9606:OR4C46
gene id: 9606:OR4C46
uniprot id: A6NHA9
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 4C46
up seq anno feature ids: PRO_0000310456
up seq anno feature ids: VAR_037045
up seq anno feature ids: VAR_037046
up seq anno feature ids: VAR_037047

9606:WARS1
gene id: 9606:WARS1
uniprot id: P23381
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 'HIGH' region
up seq anno comments: 'KMSKS' region
up seq anno comments: Disordered
up seq anno comments: In HMN9; decreased tryptophan-tRNA ligase activity; dominant negative effect; decreased general protein synthesis; decreased cell viability; no effect on homodimerization.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: N6-succinyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno comments: T1-TrpRS
up seq anno comments: T2-TrpRS
up seq anno comments: Tryptophan--tRNA ligase, cytoplasmic
up seq anno comments: WHEP-TRS
up seq anno feature ids: PRO_0000136738
up seq anno feature ids: PRO_0000386461
up seq anno feature ids: PRO_0000386462
up seq anno feature ids: VAR_036466
up seq anno feature ids: VAR_052406
up seq anno feature ids: VAR_080407
up seq anno feature ids: VAR_080408
up seq anno feature ids: VSP_038221

9606:ERVW-1
gene id: 9606:ERVW-1
uniprot id: D0EYG5
uniprot id: Q9UQF0
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: CX6CC
up seq anno comments: CXXC
up seq anno comments: Cleavage
up seq anno comments: Complete loss of cleavage between SU and TM. Loss of fusiogenic function.
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Essential for the fusiogenic function
up seq anno comments: Extracellular
up seq anno comments: Fusion peptide
up seq anno comments: Helical
up seq anno comments: Immunosuppression
up seq anno comments: Interchain (between SU and TM chains, or C-189 with C-405); in linked form
up seq anno comments: Loss of fusiogenic function. No effect on cleavage between SU and TM.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Surface protein
up seq anno comments: Syncytin-1
up seq anno comments: Transmembrane protein
up seq anno feature ids: PRO_0000008485
up seq anno feature ids: PRO_0000008486
up seq anno feature ids: PRO_0000008487
up seq anno feature ids: PRO_5003008230
up seq anno feature ids: VAR_018638
up seq anno feature ids: VAR_018639
up seq anno feature ids: VAR_018640
up seq anno feature ids: VAR_018641

9606:ZNF845
gene id: 9606:ZNF845
uniprot id: Q96IR2
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 12
up seq anno comments: C2H2-type 13
up seq anno comments: C2H2-type 14
up seq anno comments: C2H2-type 15
up seq anno comments: C2H2-type 16
up seq anno comments: C2H2-type 17
up seq anno comments: C2H2-type 18
up seq anno comments: C2H2-type 19
up seq anno comments: C2H2-type 1; degenerate
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 20
up seq anno comments: C2H2-type 21
up seq anno comments: C2H2-type 22
up seq anno comments: C2H2-type 23
up seq anno comments: C2H2-type 24
up seq anno comments: C2H2-type 25
up seq anno comments: C2H2-type 26
up seq anno comments: C2H2-type 27
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 845
up seq anno feature ids: PRO_0000349878

9606:CCDC57
gene id: 9606:CCDC57
uniprot id: Q2TAC2
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Centrosomal targeting domain
up seq anno comments: Coiled-coil domain-containing protein 57
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Microtubule binding domain
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000288871
up seq anno feature ids: VAR_032516
up seq anno feature ids: VAR_032517
up seq anno feature ids: VAR_032518
up seq anno feature ids: VAR_032519
up seq anno feature ids: VAR_032520
up seq anno feature ids: VAR_032521
up seq anno feature ids: VAR_032522
up seq anno feature ids: VAR_032523
up seq anno feature ids: VSP_025802
up seq anno feature ids: VSP_025803

9606:SLC5A9
gene id: 9606:SLC5A9
uniprot id: Q2M3M2
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Sodium/glucose cotransporter 4
up seq anno feature ids: PRO_0000333805
up seq anno feature ids: VAR_043166
up seq anno feature ids: VAR_043167
up seq anno feature ids: VAR_043168
up seq anno feature ids: VAR_068963
up seq anno feature ids: VSP_044577
up seq anno feature ids: VSP_057168

9606:OR2S2
gene id: 9606:OR2S2
uniprot id: Q9NQN1
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 2S2
up seq anno feature ids: PRO_0000150495
up seq anno feature ids: VAR_059994
up seq anno feature ids: VAR_059995
up seq anno feature ids: VAR_059996
up seq anno feature ids: VAR_059997
up seq anno feature ids: VAR_059998
up seq anno feature ids: VAR_059999
up seq anno feature ids: VAR_060000

9606:NTNG1
gene id: 9606:NTNG1
uniprot id: B4DKF0
uniprot id: Q5IEC3
uniprot id: Q5IEC8
uniprot id: Q9Y2I2
uniprot id: X5DNW2
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Lipid Binding
up seq anno labels: Non-terminal Residue
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: EGF-like
up seq anno comments: GPI-anchor amidated serine
up seq anno comments: In isoform 1.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: Laminin EGF-like
up seq anno comments: Laminin EGF-like 1
up seq anno comments: Laminin EGF-like 2
up seq anno comments: Laminin EGF-like 3
up seq anno comments: Laminin N-terminal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: NGL discriminant loop I
up seq anno comments: NGL discriminant loop II
up seq anno comments: NGL discriminant loop III
up seq anno comments: Netrin-G1
up seq anno comments: Removed in mature form
up seq anno feature ids: PRO_0000017091
up seq anno feature ids: PRO_0000017092
up seq anno feature ids: PRO_5002800844
up seq anno feature ids: PRO_5004954502
up seq anno feature ids: VSP_010429
up seq anno feature ids: VSP_010430
up seq anno feature ids: VSP_012574
up seq anno feature ids: VSP_012575
up seq anno feature ids: VSP_012576
up seq anno feature ids: VSP_012577
up seq anno feature ids: VSP_012578
up seq anno feature ids: VSP_012579
up seq anno feature ids: VSP_012580

9606:SYNGR1
gene id: 9606:SYNGR1
uniprot id: O43759
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In a patient affected by schizophrenia.
up seq anno comments: In isoform 1B and isoform 1C.
up seq anno comments: In isoform 1C.
up seq anno comments: Lumenal
up seq anno comments: MARVEL
up seq anno comments: N-acetylmethionine
up seq anno comments: Polar residues
up seq anno comments: Synaptogyrin-1
up seq anno feature ids: PRO_0000183990
up seq anno feature ids: VAR_060489
up seq anno feature ids: VAR_060490
up seq anno feature ids: VSP_006331
up seq anno feature ids: VSP_006332

9606:MAP1LC3B2
gene id: 9606:MAP1LC3B2
uniprot id: A6NCE7
up seq anno parent labels: Chain
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Propeptide
up seq anno parent labels: Site
up seq anno labels: Chain
up seq anno labels: Lipid Binding
up seq anno labels: Propeptide
up seq anno labels: Site
up seq anno comments: Cleavage; by ATG4B
up seq anno comments: Microtubule-associated proteins 1A/1B light chain 3 beta 2
up seq anno comments: Phosphatidylethanolamine amidated glycine; alternate
up seq anno comments: Phosphatidylserine amidated glycine; alternate
up seq anno comments: Removed in mature form
up seq anno feature ids: PRO_0000343732
up seq anno feature ids: PRO_0000343733

9606:GAMT
gene id: 9606:GAMT
uniprot id: Q14353
uniprot id: V9HWB2
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disrupts enzymatic activity.
up seq anno comments: Guanidinoacetate N-methyltransferase
up seq anno comments: In CCDS2.
up seq anno comments: In CCDS2; loss of activity.
up seq anno comments: In CCDS2; retains no significant activity.
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylserine
up seq anno comments: No effect on activity.
up seq anno comments: No effect on enzymatic activity.
up seq anno comments: RMT2
up seq anno comments: Removed
up seq anno comments: S-adenosyl-L-methionine
up seq anno feature ids: PRO_0000087430
up seq anno feature ids: VAR_025723
up seq anno feature ids: VAR_058102
up seq anno feature ids: VAR_058103
up seq anno feature ids: VAR_058104
up seq anno feature ids: VAR_058105
up seq anno feature ids: VAR_058106
up seq anno feature ids: VAR_058107
up seq anno feature ids: VAR_071775
up seq anno feature ids: VAR_071776
up seq anno feature ids: VAR_071777
up seq anno feature ids: VAR_071778
up seq anno feature ids: VAR_071779
up seq anno feature ids: VAR_071780
up seq anno feature ids: VAR_071781
up seq anno feature ids: VAR_071782
up seq anno feature ids: VAR_071783
up seq anno feature ids: VAR_071784
up seq anno feature ids: VAR_071785
up seq anno feature ids: VAR_071786
up seq anno feature ids: VAR_071787
up seq anno feature ids: VAR_071788
up seq anno feature ids: VAR_075290
up seq anno feature ids: VAR_075291
up seq anno feature ids: VAR_075292
up seq anno feature ids: VAR_075293
up seq anno feature ids: VAR_075294
up seq anno feature ids: VAR_075295
up seq anno feature ids: VAR_075296
up seq anno feature ids: VAR_075297
up seq anno feature ids: VAR_075298
up seq anno feature ids: VAR_075299
up seq anno feature ids: VAR_075300
up seq anno feature ids: VAR_075301
up seq anno feature ids: VAR_075302
up seq anno feature ids: VAR_075303
up seq anno feature ids: VSP_042722

9606:LCN6
gene id: 9606:LCN6
uniprot id: P62502
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Signal Peptide
up seq anno comments: Epididymal-specific lipocalin-6
up seq anno feature ids: PRO_0000017914

9606:CLTCL1
gene id: 9606:CLTCL1
uniprot id: P53675
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Binding site for the uncoating ATPase, involved in lattice disassembly
up seq anno comments: CHCR 1
up seq anno comments: CHCR 2
up seq anno comments: CHCR 3
up seq anno comments: CHCR 4
up seq anno comments: CHCR 5
up seq anno comments: CHCR 6
up seq anno comments: CHCR 7
up seq anno comments: Clathrin heavy chain 2
up seq anno comments: Distal segment
up seq anno comments: Flexible linker
up seq anno comments: Globular terminal domain
up seq anno comments: Heavy chain arm
up seq anno comments: In isoform 2.
up seq anno comments: Involved in binding clathrin light chain
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-succinyllysine
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Proximal segment
up seq anno comments: Removed
up seq anno comments: Trimerization
up seq anno comments: WD40-like repeat 1
up seq anno comments: WD40-like repeat 2
up seq anno comments: WD40-like repeat 3
up seq anno comments: WD40-like repeat 4
up seq anno comments: WD40-like repeat 5
up seq anno comments: WD40-like repeat 6
up seq anno comments: WD40-like repeat 7
up seq anno feature ids: PRO_0000205786
up seq anno feature ids: VAR_055653
up seq anno feature ids: VAR_055654
up seq anno feature ids: VAR_055655
up seq anno feature ids: VAR_055656
up seq anno feature ids: VAR_055657
up seq anno feature ids: VAR_055658
up seq anno feature ids: VAR_055659
up seq anno feature ids: VAR_059214
up seq anno feature ids: VAR_059215
up seq anno feature ids: VAR_059216
up seq anno feature ids: VAR_059217
up seq anno feature ids: VAR_059218
up seq anno feature ids: VSP_001100

9606:NDUFAF8
gene id: 9606:NDUFAF8
uniprot id: A1L188
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Motif
up seq anno labels: Sequence Variant
up seq anno comments: CHCH
up seq anno comments: Cx9C motif 1
up seq anno comments: Cx9C motif 2
up seq anno comments: In MC1DN34; unknown pathological significance.
up seq anno comments: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8
up seq anno feature ids: PRO_0000299480
up seq anno feature ids: VAR_083800

9606:AGXT
gene id: 9606:AGXT
uniprot id: P21549
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Affects pyridoxal phosphate binding; loss of alanine--glyoxylate aminotransferase activity.
up seq anno comments: Alanine--glyoxylate aminotransferase
up seq anno comments: Associated with hyperoxaluria.
up seq anno comments: In HP1.
up seq anno comments: In HP1; abolishes alanine--glyoxylate aminotransferase activity by interfering with pyridoxal phosphate binding.
up seq anno comments: In HP1; loss of alanine--glyoxylate aminotransferase activity.
up seq anno comments: In HP1; loss of alanine--glyoxylate aminotransferase activity; decreased protein stability.
up seq anno comments: In HP1; loss of alanine--glyoxylate aminotransferase activity; loss of dimerization but improved dimerization in the presence of pyridoxal phosphate; decreased protein stability.
up seq anno comments: In HP1; loss of alanine--glyoxylate aminotransferase activity; loss of dimerization; decreased protein stability.
up seq anno comments: In HP1; loss of alanine--glyoxylate aminotransferase activity; loss of dimerization; decreased protein stability; causes protein aggregation.
up seq anno comments: In HP1; loss of alanine--glyoxylate aminotransferase activity; loss of dimerization; no effect on protein stability.
up seq anno comments: In HP1; loss of alanine--glyoxylate aminotransferase activity; no loss of dimerization; no effect on protein stability.
up seq anno comments: In HP1; loss of alanine--glyoxylate aminotransferase activity; reduced expression levels; decreased protein stability; protein aggregation seen in the cytosol with a decreased aggregation propensity in the presence of pyridoxal phosphate; loss of dimerization.
up seq anno comments: In HP1; prevalent mutation in the Canary islands; when associated with L-11 and M-340 on the minor AGXT allele; results in protein misfolding; decreased alanine--glyoxylate aminotransferase activity; no loss of dimerization; partial mitochondrial mistargeting.
up seq anno comments: In HP1; reduced alanine--glyoxylate aminotransferase activity; no loss of dimerization; no effect on protein stability.
up seq anno comments: In HP1; unknown pathological significance.
up seq anno comments: In HP1; when associated with L-11 and M-340 on the minor AGXT allele; results in loss of alanine--glyoxylate aminotransferase activity.
up seq anno comments: In HP1; when associated with L-11 and M-340 on the minor AGXT allele; results in loss of alanine--glyoxylate aminotransferase activity; loss of dimerization; decreased protein stability.
up seq anno comments: In HP1; when associated with L-11 and M-340 on the minor AGXT allele; results in loss of alanine--glyoxylate aminotransferase activity; reduced expression levels; decreased protein stability; protein aggregation seen in the cytosol with a decreased aggregation propensity in the presence of pyridoxal phosphate; reduced peroxisomal localization.
up seq anno comments: In HP1; when associated with L-11 and M-340 on the minor AGXT allele; results in loss of protein stability; loss of alanine--glyoxylate aminotransferase activity; loss of dimerization; partial mitochondrial mistargeting; intraperoxisomal protein aggregation seen.
up seq anno comments: In HP1; when associated with L-11 and M-340 on the minor AGXT allele; results in mitochondrial mistargeting; slight decrease in alanine--glyoxylate aminotransferase activity; loss of dimerization; partial loss of protein stability but protein stability increases in the presence of pyridoxal phosphate; causes protein aggregation.
up seq anno comments: In HP1; when associated with L-11 and M-340 on the minor AGXT allele; results in protein destabilization; decreased alanine--glyoxylate aminotransferase activity; no loss of dimerization; mitochondrial mistargeting.
up seq anno comments: In HP1; when associated with L-11 and M-340 on the minor AGXT allele; results in protein misfolding; decreased alanine--glyoxylate aminotransferase activity; reduced expression levels; reduced pyridoxal phosphate binding; reduced dimerization; reduced thermostability; increased propensity to aggregation; increased susceptibility to proteolytic degradation within the N-terminal region; mitochondrial mistargeting; exposure to pyridoxine can rescue the functionality by partially preventing aggregation and degradation and by redirecting all the protein to the peroxisome.
up seq anno comments: N6-(pyridoxal phosphate)lysine
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: No loss of alanine--glyoxylate aminotransferase activity.
up seq anno comments: Phosphothreonine
up seq anno comments: Reduction of specific alanine--glyoxylate aminotransferase activity in vitro; causes mitochondrial mistargeting when associated with R-170.
up seq anno feature ids: PRO_0000150237
up seq anno feature ids: VAR_000587
up seq anno feature ids: VAR_000588
up seq anno feature ids: VAR_000589
up seq anno feature ids: VAR_000590
up seq anno feature ids: VAR_000591
up seq anno feature ids: VAR_000592
up seq anno feature ids: VAR_000593
up seq anno feature ids: VAR_008878
up seq anno feature ids: VAR_008879
up seq anno feature ids: VAR_008880
up seq anno feature ids: VAR_008881
up seq anno feature ids: VAR_010969
up seq anno feature ids: VAR_010970
up seq anno feature ids: VAR_010971
up seq anno feature ids: VAR_010972
up seq anno feature ids: VAR_010973
up seq anno feature ids: VAR_048236
up seq anno feature ids: VAR_048237
up seq anno feature ids: VAR_060547
up seq anno feature ids: VAR_060548
up seq anno feature ids: VAR_060549
up seq anno feature ids: VAR_060550
up seq anno feature ids: VAR_060551
up seq anno feature ids: VAR_060552
up seq anno feature ids: VAR_060553

9606:HPGDS
gene id: 9606:HPGDS
uniprot id: A0A384P5J0
uniprot id: O60760
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: GST C-terminal
up seq anno comments: GST N-terminal
up seq anno comments: Hematopoietic prostaglandin D synthase
up seq anno comments: Increases PGD2 synthesis. Loss of activation by calcium or magnesium ions.
up seq anno comments: Loss of activation by calcium or magnesium ions.
up seq anno comments: Reduces PGD2 synthesis by 99%. Loss of activation by calcium or magnesium ions.
up seq anno feature ids: PRO_0000185934

9606:SNIP1
gene id: 9606:SNIP1
uniprot id: B1AK66
uniprot id: Q8TAD8
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes sumoylation.
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Disordered
up seq anno comments: FHA
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: In NEDHCS.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Smad nuclear-interacting protein 1
up seq anno feature ids: PRO_0000072009
up seq anno feature ids: VAR_067542

9606:CCDC88B
gene id: 9606:CCDC88B
uniprot id: A6NC98
uniprot id: B2RTU8
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Coiled-coil domain-containing protein 88B
up seq anno comments: Disordered
up seq anno comments: HOOK N-terminal
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000317454
up seq anno feature ids: PRO_5014298363
up seq anno feature ids: VAR_038523
up seq anno feature ids: VAR_038524
up seq anno feature ids: VAR_038525
up seq anno feature ids: VSP_030956
up seq anno feature ids: VSP_030957
up seq anno feature ids: VSP_030958
up seq anno feature ids: VSP_030959
up seq anno feature ids: VSP_030960
up seq anno feature ids: VSP_030961
up seq anno feature ids: VSP_030962
up seq anno feature ids: VSP_030963
up seq anno feature ids: VSP_030964
up seq anno feature ids: VSP_030965
up seq anno feature ids: VSP_035405
up seq anno feature ids: VSP_035406

9606:TMEM170A
gene id: 9606:TMEM170A
uniprot id: B3KT46
uniprot id: H3BRD7
uniprot id: H3BS26
uniprot id: Q8WVE7
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Transmembrane protein 170A
up seq anno feature ids: PRO_0000291759
up seq anno feature ids: VSP_026229

9606:TMPRSS11A
gene id: 9606:TMPRSS11A
uniprot id: A0A0A0MR82
uniprot id: A8KA85
uniprot id: Q6ZMR5
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Charge relay system
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In isoform 1.
up seq anno comments: May be a susceptibility factor for developing esophageal cancer especially in smoking population.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Peptidase S1
up seq anno comments: SEA
up seq anno comments: Transmembrane protease serine 11A
up seq anno feature ids: PRO_5000095974
up seq anno feature ids: VAR_034797
up seq anno feature ids: VSP_061449

9606:IGSF1
gene id: 9606:IGSF1
uniprot id: Q8N6C5
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Ig-like C2-type 1
up seq anno comments: Ig-like C2-type 10
up seq anno comments: Ig-like C2-type 11
up seq anno comments: Ig-like C2-type 12
up seq anno comments: Ig-like C2-type 2
up seq anno comments: Ig-like C2-type 3
up seq anno comments: Ig-like C2-type 4
up seq anno comments: Ig-like C2-type 5
up seq anno comments: Ig-like C2-type 6
up seq anno comments: Ig-like C2-type 7
up seq anno comments: Ig-like C2-type 8
up seq anno comments: Ig-like C2-type 9
up seq anno comments: Immunoglobulin superfamily member 1
up seq anno comments: In CHTE; impairs IGSF1 trafficking to the plasma membrane.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000318512
up seq anno feature ids: VAR_054960
up seq anno feature ids: VAR_069268
up seq anno feature ids: VAR_069269
up seq anno feature ids: VAR_069270
up seq anno feature ids: VAR_069271
up seq anno feature ids: VAR_076256
up seq anno feature ids: VSP_031195
up seq anno feature ids: VSP_031196
up seq anno feature ids: VSP_031197
up seq anno feature ids: VSP_044554

9606:ADAM10
gene id: 9606:ADAM10
uniprot id: O14672
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Abrogates APP cleavage. Reduces Notch signaling. Loss of proteolytic activity.
up seq anno comments: Cleavage; by furin and PCSK7
up seq anno comments: Cysteine switch
up seq anno comments: Cytoplasmic
up seq anno comments: Disintegrin
up seq anno comments: Disintegrin and metalloproteinase domain-containing protein 10
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In AD18; associated with disease susceptibility; significantly attenuates alpha-secretase activity of the enzyme; shifts APP processing toward beta-secretase-mediated cleavage resulting in enhanced amyloid-beta plaque load and reactive gliosis.
up seq anno comments: In RAK.
up seq anno comments: In a cutaneous metastatic melanoma sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with AP2A1, AP2A2 and AP2M1
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Peptidase M12B
up seq anno comments: Phosphothreonine; by FAM20C
up seq anno comments: Pro residues
up seq anno comments: SH3-binding
up seq anno comments: in inhibited form
up seq anno feature ids: PRO_0000029066
up seq anno feature ids: PRO_0000029067
up seq anno feature ids: VAR_066309
up seq anno feature ids: VAR_070907
up seq anno feature ids: VAR_070908
up seq anno feature ids: VAR_070909
up seq anno feature ids: VAR_070910
up seq anno feature ids: VSP_056401

9606:HDAC1
gene id: 9606:HDAC1
uniprot id: Q13547
uniprot id: Q6IT96
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolished histone deacetylase and decrotonylase activities.
up seq anno comments: Abolishes histone deacetylase and decrotonylase activities.
up seq anno comments: Abolishes interaction with CHFR; when associated with I-297.
up seq anno comments: Abolishes interaction with CHFR; when associated with Y-287.
up seq anno comments: Basic and acidic residues
up seq anno comments: Decreases deacetylase activity, and disrupts interaction with NuRD and SIN3 complexes.
up seq anno comments: Decreases deacetylase activity.
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: Histone deacetylase
up seq anno comments: Histone deacetylase 1
up seq anno comments: Impaired protein deacetylase activity without affecting the protein decrotonylase activity.
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-methylated lysine; by EHMT2
up seq anno comments: No effect on deacetylase activity, no effect on interaction with NuRD and SIN3 complexes.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CK2
up seq anno comments: Proton acceptor
up seq anno comments: S-nitrosocysteine
up seq anno comments: Slightly decreases deacetylase activity, no effect on interaction with NuRD and SIN3 complexes.
up seq anno comments: Slightly decreases deacetylase activity.
up seq anno comments: Strongly decreases deacetylase activity, and disrupts interaction with NuRD and SIN3 complexes.
up seq anno feature ids: PRO_0000114687

9606:CABLES1
gene id: 9606:CABLES1
uniprot id: A7K6Y5
uniprot id: Q8TDN4
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: CDK5 and ABL1 enzyme substrate 1
up seq anno comments: Cyclin N-terminal
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Interaction with CDK3
up seq anno comments: Interaction with TDRD7
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CDK2 and CDK3
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000080510
up seq anno feature ids: VSP_012695
up seq anno feature ids: VSP_012696
up seq anno feature ids: VSP_012697
up seq anno feature ids: VSP_045014

9606:RGS5
gene id: 9606:RGS5
uniprot id: O15539
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: RGS
up seq anno comments: Regulator of G-protein signaling 5
up seq anno feature ids: PRO_0000204188
up seq anno feature ids: VSP_043094
up seq anno feature ids: VSP_045086

9606:HSD17B6
gene id: 9606:HSD17B6
uniprot id: O14756
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno comments: 17-beta-hydroxysteroid dehydrogenase type 6
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000303211

9606:LAMA2
gene id: 9606:LAMA2
uniprot id: P24043
uniprot id: Q59H37
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: Domain II and I
up seq anno comments: In LGMDR23.
up seq anno comments: In LGMDR23; decreased protein abundance in patient cells.
up seq anno comments: In MDC1A.
up seq anno comments: In MDC1A; unknown pathological significance.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: Interchain
up seq anno comments: Laminin EGF-like
up seq anno comments: Laminin EGF-like 1
up seq anno comments: Laminin EGF-like 10
up seq anno comments: Laminin EGF-like 11
up seq anno comments: Laminin EGF-like 12
up seq anno comments: Laminin EGF-like 13
up seq anno comments: Laminin EGF-like 14; first part
up seq anno comments: Laminin EGF-like 14; second part
up seq anno comments: Laminin EGF-like 15
up seq anno comments: Laminin EGF-like 16
up seq anno comments: Laminin EGF-like 17
up seq anno comments: Laminin EGF-like 2
up seq anno comments: Laminin EGF-like 3
up seq anno comments: Laminin EGF-like 4
up seq anno comments: Laminin EGF-like 5; first part
up seq anno comments: Laminin EGF-like 5; second part
up seq anno comments: Laminin EGF-like 6
up seq anno comments: Laminin EGF-like 7
up seq anno comments: Laminin EGF-like 8
up seq anno comments: Laminin EGF-like 9
up seq anno comments: Laminin G
up seq anno comments: Laminin G-like 1
up seq anno comments: Laminin G-like 2
up seq anno comments: Laminin G-like 3
up seq anno comments: Laminin G-like 4
up seq anno comments: Laminin G-like 5
up seq anno comments: Laminin IV type A
up seq anno comments: Laminin IV type A 1
up seq anno comments: Laminin IV type A 2
up seq anno comments: Laminin N-terminal
up seq anno comments: Laminin subunit alpha-2
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000017056
up seq anno feature ids: VAR_004165
up seq anno feature ids: VAR_004166

9606:NVL
gene id: 9606:NVL
uniprot id: B4DF43
uniprot id: O15381
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes binding to MTREX.
up seq anno comments: Basic and acidic residues
up seq anno comments: Decreased nuclear localization when associated with 218-A--A-220. Complete loss of nuclear localization; when associated with 85-A-A-86 and 218-A--A-220.
up seq anno comments: Decreased nuclear localization. Complete loss of nuclear localization; when associated with 218-A--A-220 and 230-A--A-232.
up seq anno comments: Decreased nuclear localization; when associated with 230-A--A-232. Complete loss of nuclear localization; when associated with 85-A-A-86 and 230-A--A-232.
up seq anno comments: Decreases 60S ribosomes synthesis. Strongly decreases 60S ribosomal subunit synthesis, enhances interaction with WDR74 and increases association of WDR74 and MTREX as well as induces partial migration of WDR74 to the nucleoplasm; when associated with Q-365.
up seq anno comments: Decreases 60S ribosomes synthesis. Strongly decreases 60S ribosomal subunit synthesis, enhances interaction with WDR74 and increases association of WDR74 and MTREX as well as induces partial migration of WDR74 to the nucleoplasm; when associated with Q-682.
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Impairs binding to MTREX.
up seq anno comments: Impairs the binding of MTREX.
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3 and isoform 5.
up seq anno comments: In isoform 4.
up seq anno comments: Interaction with RPL5
up seq anno comments: Interaction with WDR74
up seq anno comments: Loss of ATP-binding. No effect on interaction with TERT, MTREX and RPL5 and on telomerase activity. Significant reduction in the level of the 60S ribosomal subunit.
up seq anno comments: Loss of ATP-binding. Significant reduction in interaction with TERT and in telomerase activity. Loss of interaction with MTREX.
up seq anno comments: Loss of nucleolar localization and interaction with RPL5.
up seq anno comments: N6-acetyllysine
up seq anno comments: NVL2 nucleolin binding
up seq anno comments: Nuclear localization signal
up seq anno comments: Nuclear valosin-containing protein-like
up seq anno comments: Nucleolar localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000084588
up seq anno feature ids: VAR_015890
up seq anno feature ids: VAR_048109
up seq anno feature ids: VAR_048110
up seq anno feature ids: VSP_007771
up seq anno feature ids: VSP_007772
up seq anno feature ids: VSP_045334
up seq anno feature ids: VSP_045335

9606:HOXC5
gene id: 9606:HOXC5
uniprot id: Q00444
up seq anno parent labels: Chain
up seq anno parent labels: DNA Binding
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: DNA Binding
up seq anno labels: Motif
up seq anno labels: Region
up seq anno comments: Antp-type hexapeptide
up seq anno comments: Disordered
up seq anno comments: Homeobox
up seq anno comments: Homeobox protein Hox-C5
up seq anno feature ids: PRO_0000200169

9606:SLC6A4
gene id: 9606:SLC6A4
uniprot id: B2R7Y7
uniprot id: P31645
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Disrupts chloride ion dependence of serotonin transport. Results in larger serotonin-induced currents independent of the chloride ion gradient. Increases serotonin transport rate; when associated with C-336. Decreases expression at the cell surface.
up seq anno comments: Extracellular
up seq anno comments: Found in 15 autistic individuals, decreased expression at the cell surface; increased affinity for serotonin; increased serotonin transport capacity; loss of regulation through cGMP and MAP kinases pathways; hypoplasia of the enteric nervous system and decreased gastrointestinal peristaltic reflexes shown by a mouse knockin model of the mutation.
up seq anno comments: Found in 2 autistic individuals; increased affinity for serotonin; increased serotonin transport rate.
up seq anno comments: Found in 2 autistic individuals; increased expression at the cell surface; increased affinity for serotonin.
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=10
up seq anno comments: Helical; Name=11
up seq anno comments: Helical; Name=12
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: Helical; Name=8
up seq anno comments: Helical; Name=9
up seq anno comments: Impairs serotonin transport. Results in chloride ion-independent serotonin transport; when associated with A-101 or C-101.
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with RAB4A
up seq anno comments: Linked with susceptibility to obsessive-compulsive disorder; increased serotonin transport capacity.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphothreonine; by PKG
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: Sodium-dependent serotonin transporter
up seq anno comments: Sodium:neurotransmitter symporter serotonin N-terminal
up seq anno feature ids: PRO_0000214757
up seq anno feature ids: VAR_014181
up seq anno feature ids: VAR_014182
up seq anno feature ids: VAR_026751
up seq anno feature ids: VAR_029158
up seq anno feature ids: VAR_036788
up seq anno feature ids: VAR_036789
up seq anno feature ids: VAR_036790
up seq anno feature ids: VSP_046553

9606:POGLUT2
gene id: 9606:POGLUT2
uniprot id: A0A9L9PXM5
uniprot id: Q6UW63
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Motif
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Filamin
up seq anno comments: Glycosyl transferase CAP10
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Prevents secretion from ER
up seq anno comments: Protein O-glucosyltransferase 2
up seq anno feature ids: PRO_0000247163
up seq anno feature ids: PRO_5040469714
up seq anno feature ids: VAR_027080

9606:FASLG
gene id: 9606:FASLG
uniprot id: P48023
uniprot id: Q53ZZ1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: ADAM10-processed FasL form
up seq anno comments: Abolishes binding to TNRFSF6 and cytotoxicity.
up seq anno comments: Cleavage; by ADAM10
up seq anno comments: Cleavage; by SPPL2A
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: FasL intracellular domain
up seq anno comments: Helical
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In ALPS1B; significant reduction in cytotoxicity and apoptosis and inhibition of the shedding of the soluble form.
up seq anno comments: In isoform 2.
up seq anno comments: Lowers binding to TNFRSF6 and abolishes cytotoxicity.
up seq anno comments: Lowers binding to TNFRSF6 and reduces cytotoxicity more than 100-fold.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Pro residues
up seq anno comments: TNF family profile
up seq anno comments: Tumor necrosis factor ligand superfamily member 6, membrane form
up seq anno comments: Tumor necrosis factor ligand superfamily member 6, soluble form
up seq anno feature ids: PRO_0000034500
up seq anno feature ids: PRO_0000034501
up seq anno feature ids: PRO_0000416842
up seq anno feature ids: PRO_0000417152
up seq anno feature ids: VAR_052583
up seq anno feature ids: VAR_075568
up seq anno feature ids: VSP_006443
up seq anno feature ids: VSP_006444

9606:IRF8
gene id: 9606:IRF8
uniprot id: Q02556
up seq anno parent labels: Chain
up seq anno parent labels: DNA Binding
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: DNA Binding
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno comments: IRF tryptophan pentad repeat
up seq anno comments: In IMD32A; impairs transcriptional activity by disrupting the interaction between IRF8 and DNA.
up seq anno comments: In IMD32B; in resting macrophages, no effect on cytoplasmic subcellular localization; loss of nuclear subcellular localization upon IFN-gamma induction; decreased protein abundance; increased proteasome-dependent degradation; increased ubiquitination and sumoylation; loss of transcriptional repressor activity; loss of IRF1-dependent transcriptional repressor activity; loss of IRF1-dependent transcriptional activator activity; impairs transcriptional activity by disrupting the interaction between IRF8 and DNA.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In resting macrophages, no effect on cytoplasmic subcellular localization. Decreased nuclear subcellular localization upon IFN-gamma induction. Partial loss of IRF1-dependent transcriptional activator activity.
up seq anno comments: In resting macrophages, no effect on cytoplasmic subcellular localization. Loss of nuclear subcellular localization upon IFN-gamma induction. Loss of IRF1-dependent transcriptional activator activity.
up seq anno comments: In resting macrophages, no effect on cytoplasmic subcellular localization. No effect on nuclear subcellular localization upon IFN-gamma induction. No effect on transcriptional activator activity. No effect on IRF1-dependent transcriptional activator activity.
up seq anno comments: Interferon regulatory factor 8
up seq anno feature ids: PRO_0000154564
up seq anno feature ids: VAR_036490
up seq anno feature ids: VAR_036491
up seq anno feature ids: VAR_070084
up seq anno feature ids: VAR_070085

9606:ENKUR
gene id: 9606:ENKUR
uniprot id: A0A087WUX1
uniprot id: Q8TC29
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Motif
up seq anno labels: Region
up seq anno comments: Disordered
up seq anno comments: Enkurin
up seq anno comments: IQ
up seq anno comments: Interaction with TRPC proteins
up seq anno comments: SH3-binding
up seq anno feature ids: PRO_0000086975

9606:TNNI3K
gene id: 9606:TNNI3K
uniprot id: Q59H18
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: ANK 1
up seq anno comments: ANK 10
up seq anno comments: ANK 2
up seq anno comments: ANK 3
up seq anno comments: ANK 4
up seq anno comments: ANK 5
up seq anno comments: ANK 6
up seq anno comments: ANK 7
up seq anno comments: ANK 8
up seq anno comments: ANK 9
up seq anno comments: Disordered
up seq anno comments: In CCDD; the mutation results in decreased protein solubility; causes abnormal aggregation; markedly reduced protein expression is observed in the sarcoplasm and nuclei of patient cardiomyocytes.
up seq anno comments: In a colorectal adenocarcinoma sample; somatic mutation.
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In a head & Neck squamous cell carcinoma sample; somatic mutation.
up seq anno comments: In isoform 1, isoform 3 and isoform 4.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Loss of autophosphorylation activity.
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Serine/threonine-protein kinase TNNI3K
up seq anno feature ids: PRO_0000086757
up seq anno feature ids: VAR_035639
up seq anno feature ids: VAR_038821
up seq anno feature ids: VAR_038822
up seq anno feature ids: VAR_041223
up seq anno feature ids: VAR_041224
up seq anno feature ids: VAR_041225
up seq anno feature ids: VAR_041226
up seq anno feature ids: VAR_041227
up seq anno feature ids: VAR_041228
up seq anno feature ids: VAR_041229
up seq anno feature ids: VAR_041230
up seq anno feature ids: VAR_072650
up seq anno feature ids: VSP_039403
up seq anno feature ids: VSP_051882
up seq anno feature ids: VSP_051883
up seq anno feature ids: VSP_051884
up seq anno feature ids: VSP_051885

9606:DNAJC30
gene id: 9606:DNAJC30
uniprot id: B3KSU4
uniprot id: Q96LL9
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Transit Peptide
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: DnaJ homolog subfamily C member 30, mitochondrial
up seq anno comments: Helical
up seq anno comments: In LHONAR; results in reduced turnover of N-module subunits of the respiratory chain complex I and reduced complex I activity in homozygous patient-derived cells.
up seq anno comments: J
up seq anno comments: Mitochondrion
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000071137
up seq anno feature ids: PRO_5002790097
up seq anno feature ids: VAR_024433
up seq anno feature ids: VAR_048915
up seq anno feature ids: VAR_085951
up seq anno feature ids: VAR_085952
up seq anno feature ids: VAR_085953

9606:TGFA
gene id: 9606:TGFA
uniprot id: E7EPT6
uniprot id: F8VNR3
uniprot id: P01135
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Lipid Binding
up seq anno labels: Propeptide
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: EGF-like
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2, isoform 3 and isoform 5.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4 and isoform 5.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Protransforming growth factor alpha
up seq anno comments: Removed in mature form
up seq anno comments: S-palmitoyl cysteine
up seq anno comments: Transforming growth factor alpha
up seq anno feature ids: PRO_0000007752
up seq anno feature ids: PRO_0000007753
up seq anno feature ids: PRO_0000007754
up seq anno feature ids: PRO_0000302744
up seq anno feature ids: PRO_5003217483
up seq anno feature ids: PRO_5003379224
up seq anno feature ids: VAR_024271
up seq anno feature ids: VSP_038369
up seq anno feature ids: VSP_038370
up seq anno feature ids: VSP_038371

9606:PCNA
gene id: 9606:PCNA
uniprot id: P12004
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: DNA Binding
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: DNA Binding
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes ubiquitination. No effect on interaction with SHPRH.
up seq anno comments: Alters chromatin-associated PCNA stability and its function in DNA replication and repair.
up seq anno comments: Complete loss of interaction with UHRF2.
up seq anno comments: Decrease in POLD3-binding.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
up seq anno comments: In ATLD2; a hypomorphic mutation affecting DNA repair in response to UV; results in significantly decreased interaction with FEN1, LIG1 and ERCC5.
up seq anno comments: Inhibits acetylation, recruitment to DNA damage sites, inducible ubiquitination and protein degradation, DNA replication and repair synthesis efficiencies, but homotrimer formation, nuclear recruitment to DNA damage sites, interactions with CREBBP, EP300 and POLD1 are similar as the wild-type; in association with R-13; R-14; R-20 and R-77.
up seq anno comments: Inhibits acetylation, recruitment to DNA damage sites, inducible ubiquitination and protein degradation, DNA replication and repair synthesis efficiencies, but homotrimer formation, nuclear recruitment to DNA damage sites, interactions with CREBBP, EP300 and POLD1 are similar as the wild-type; in association with R-13; R-14; R-20 and R-80.
up seq anno comments: Inhibits acetylation, recruitment to DNA damage sites, inducible ubiquitination and protein degradation, DNA replication and repair synthesis efficiencies, but homotrimer formation, nuclear recruitment to DNA damage sites, interactions with CREBBP, EP300 and POLD1 are similar as the wild-type; in association with R-13; R-14; R-77 and R-80.
up seq anno comments: Inhibits acetylation, recruitment to DNA damage sites, inducible ubiquitination and protein degradation, DNA replication and repair synthesis efficiencies, but homotrimer formation, nuclear recruitment to DNA damage sites, interactions with CREBBP, EP300 and POLD1 are similar as the wild-type; in association with R-13; R-20; R-77 and R-80.
up seq anno comments: Inhibits acetylation, recruitment to DNA damage sites, inducible ubiquitination and protein degradation, DNA replication and repair synthesis efficiencies, but homotrimer formation, nuclear recruitment to DNA damage sites, interactions with CREBBP, EP300 and POLD1 are similar as the wild-type; in association with R-14; R-20; R-77 and R-80.
up seq anno comments: Inhibits recruitment to DNA damage sites, but nuclear localization is similar as the wild-type; in association with A-77.
up seq anno comments: Inhibits recruitment to DNA damage sites, but nuclear localization is similar as the wild-type; in association with A-80.
up seq anno comments: Interaction with NUDT15
up seq anno comments: N6-acetyllysine
up seq anno comments: No effect on POLD3-binding. Impairs binding to ALKBH2.
up seq anno comments: No effect on POLD3-binding. No effect on ALKBH2-binding.
up seq anno comments: Phosphotyrosine; by EGFR
up seq anno comments: Proliferating cell nuclear antigen
up seq anno comments: Strong decrease in POLD3-binding. Impairs binding to ALKBH2.
up seq anno feature ids: PRO_0000149158
up seq anno feature ids: VAR_071871

9606:ZNF286A
gene id: 9606:ZNF286A
uniprot id: A1A525
uniprot id: B2RCD9
uniprot id: Q9HBT8
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: C2H2-type
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: KRAB
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Zinc finger protein 286A
up seq anno feature ids: PRO_0000047510
up seq anno feature ids: VAR_021892
up seq anno feature ids: VSP_056673

9606:RPL10L
gene id: 9606:RPL10L
uniprot id: Q96L21
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno comments: In SPGF63; reduced protein expression.
up seq anno comments: Ribosomal protein uL16-like
up seq anno feature ids: PRO_0000147106
up seq anno feature ids: VAR_085860

9606:RAE1
gene id: 9606:RAE1
uniprot id: P78406
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: Phosphothreonine
up seq anno comments: WD 1
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno comments: WD 7
up seq anno comments: mRNA export factor RAE1
up seq anno feature ids: PRO_0000051181

9606:NOS1
gene id: 9606:NOS1
uniprot id: A0PJJ7
uniprot id: B3VK56
uniprot id: B4DG68
uniprot id: P29475
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Calmodulin-binding
up seq anno comments: Disordered
up seq anno comments: FAD-binding FR-type
up seq anno comments: Flavodoxin-like
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: Interaction with DYNLL1/PIN
up seq anno comments: Interaction with NOSIP
up seq anno comments: Nitric oxide synthase 1
up seq anno comments: PDZ
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: axial binding residue
up seq anno feature ids: PRO_0000170921
up seq anno feature ids: VAR_018948
up seq anno feature ids: VAR_018949
up seq anno feature ids: VAR_018950
up seq anno feature ids: VAR_018951
up seq anno feature ids: VAR_018952
up seq anno feature ids: VSP_003571
up seq anno feature ids: VSP_003572
up seq anno feature ids: VSP_003573
up seq anno feature ids: VSP_003574
up seq anno feature ids: VSP_044916

9606:KRTAP9-4
gene id: 9606:KRTAP9-4
uniprot id: Q9BYQ2
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno comments: 1
up seq anno comments: 10
up seq anno comments: 11
up seq anno comments: 12
up seq anno comments: 13
up seq anno comments: 14
up seq anno comments: 15
up seq anno comments: 15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]-[TASPF]
up seq anno comments: 2
up seq anno comments: 3
up seq anno comments: 4
up seq anno comments: 5
up seq anno comments: 6
up seq anno comments: 7
up seq anno comments: 8
up seq anno comments: 9
up seq anno comments: Keratin-associated protein 9-4
up seq anno feature ids: PRO_0000185190
up seq anno feature ids: VAR_060242

9606:CNOT2
gene id: 9606:CNOT2
uniprot id: B2RDX7
uniprot id: B3KTL6
uniprot id: F8VV52
uniprot id: Q9NZN8
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: CCR4-NOT transcription complex subunit 2
up seq anno comments: Disordered
up seq anno comments: In IDNADFS.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: NOT2/NOT3/NOT5 C-terminal
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Repressor domain
up seq anno feature ids: PRO_0000198331
up seq anno feature ids: VAR_048750
up seq anno feature ids: VAR_083417
up seq anno feature ids: VSP_009912
up seq anno feature ids: VSP_009913
up seq anno feature ids: VSP_009914
up seq anno feature ids: VSP_009915
up seq anno feature ids: VSP_009916

9606:ALAS2
gene id: 9606:ALAS2
uniprot id: P22557
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: 2-fold increased enzyme activity with a lower specificity for glycine and higher for succinyl-CoA.
up seq anno comments: 5-aminolevulinate synthase, erythroid-specific, mitochondrial
up seq anno comments: In SIDBA1.
up seq anno comments: In SIDBA1; 12% to 25% activity of wild-type.
up seq anno comments: In SIDBA1; 15% to 35% activity of wild-type.
up seq anno comments: In SIDBA1; associated in cis with L-520 in a patient.
up seq anno comments: In SIDBA1; does not affect activity.
up seq anno comments: In SIDBA1; likely benign variant; associated in cis with H-560 in a patient.
up seq anno comments: In SIDBA1; significantly increased thermosensitivity.
up seq anno comments: In SIDBA1; significantly reduced activity.
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Mitochondrion
up seq anno comments: N6-(pyridoxal phosphate)lysine
up seq anno comments: Rare variant found in a congenital erythropoietic porphyria patient that also carries UROS mutations R-73 and Q-248; increased enzyme activity.
up seq anno comments: in other chain
up seq anno feature ids: PRO_0000001223
up seq anno feature ids: VAR_000562
up seq anno feature ids: VAR_000563
up seq anno feature ids: VAR_000564
up seq anno feature ids: VAR_012334
up seq anno feature ids: VAR_012335
up seq anno feature ids: VAR_012336
up seq anno feature ids: VAR_012337
up seq anno feature ids: VAR_018604
up seq anno feature ids: VAR_018605
up seq anno feature ids: VAR_066232
up seq anno feature ids: VAR_066233
up seq anno feature ids: VAR_066234
up seq anno feature ids: VAR_066235
up seq anno feature ids: VAR_066236
up seq anno feature ids: VAR_066237
up seq anno feature ids: VAR_066238
up seq anno feature ids: VAR_066239
up seq anno feature ids: VAR_066240
up seq anno feature ids: VAR_066241
up seq anno feature ids: VAR_066242
up seq anno feature ids: VAR_066243
up seq anno feature ids: VAR_066244
up seq anno feature ids: VAR_072328
up seq anno feature ids: VAR_072329
up seq anno feature ids: VAR_072330
up seq anno feature ids: VAR_072331
up seq anno feature ids: VSP_042851
up seq anno feature ids: VSP_042852
up seq anno feature ids: VSP_042853
up seq anno feature ids: VSP_047330

9606:USP9Y
gene id: 9606:USP9Y
uniprot id: O00507
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In isoform Short.
up seq anno comments: Nucleophile
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: Probable ubiquitin carboxyl-terminal hydrolase FAF-Y
up seq anno comments: Proton acceptor
up seq anno comments: USP
up seq anno feature ids: PRO_0000080690
up seq anno feature ids: VAR_016194
up seq anno feature ids: VAR_029328
up seq anno feature ids: VAR_055350
up seq anno feature ids: VAR_055351
up seq anno feature ids: VAR_055352
up seq anno feature ids: VSP_005272

9606:PLEKHH2
gene id: 9606:PLEKHH2
uniprot id: Q8IVE3
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: FERM
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: MyTH4
up seq anno comments: PH 1
up seq anno comments: PH 2
up seq anno comments: Pleckstrin homology domain-containing family H member 2
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000307121
up seq anno feature ids: VAR_035344
up seq anno feature ids: VAR_035345
up seq anno feature ids: VAR_035346
up seq anno feature ids: VAR_055542
up seq anno feature ids: VSP_028573
up seq anno feature ids: VSP_028574
up seq anno feature ids: VSP_028575

9606:MTMR6
gene id: 9606:MTMR6
uniprot id: Q9Y217
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: GRAM
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with RAB1B
up seq anno comments: Myotubularin phosphatase
up seq anno comments: Myotubularin-related protein 6
up seq anno comments: Phosphocysteine intermediate
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno feature ids: PRO_0000094939
up seq anno feature ids: VAR_024583
up seq anno feature ids: VAR_057143
up seq anno feature ids: VSP_036614
up seq anno feature ids: VSP_036615

9606:TMEM221
gene id: 9606:TMEM221
uniprot id: A6NGB7
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: Transmembrane protein 221
up seq anno feature ids: PRO_0000332134

9606:RTL4
gene id: 9606:RTL4
uniprot id: Q6ZR62
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: CCHC-type
up seq anno comments: Retrotransposon Gag-like protein 4
up seq anno feature ids: PRO_0000257494
up seq anno feature ids: VAR_028917
up seq anno feature ids: VAR_053756

9606:FEZF2
gene id: 9606:FEZF2
uniprot id: A0A140VKG3
uniprot id: Q8TBJ5
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: Disordered
up seq anno comments: Engrailed homology 1 repressor
up seq anno comments: Fez family zinc finger protein 2
up seq anno comments: In a patient with amyotrophic lateral sclerosis.
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000295119
up seq anno feature ids: VAR_033213
up seq anno feature ids: VAR_033214
up seq anno feature ids: VAR_065740
up seq anno feature ids: VSP_026734
up seq anno feature ids: VSP_026735

9606:OR13C9
gene id: 9606:OR13C9
uniprot id: Q8NGT0
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 13C9
up seq anno feature ids: PRO_0000150736
up seq anno feature ids: VAR_024136
up seq anno feature ids: VAR_034308
up seq anno feature ids: VAR_053301

9606:POFUT2
gene id: 9606:POFUT2
uniprot id: Q9Y2G5
uniprot id: S6FW71
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes enzyme activity.
up seq anno comments: Essential for catalytic activity
up seq anno comments: GDP-fucose protein O-fucosyltransferase 2
up seq anno comments: In isoform A.
up seq anno comments: In isoform B.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No enhanced secretion of ADASMTS13; when associated with A-396.
up seq anno comments: Proton acceptor
up seq anno comments: Reduces enzyme activity.
up seq anno comments: Reduces enzyme activity. No enhanced secretion of ADASMTS13; when associated with A-396.
up seq anno feature ids: PRO_0000012154
up seq anno feature ids: PRO_5014594117
up seq anno feature ids: VSP_003832
up seq anno feature ids: VSP_003833
up seq anno feature ids: VSP_003834

9606:PMVK
gene id: 9606:PMVK
uniprot id: Q15126
uniprot id: Q6FGV9
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Almost no change in KM and Vmax for MgATP and R-MVP.
up seq anno comments: Approximately 10-fold decrease in Vmax for MgATP and R-MVP. Approximately 3-fold increase in KM for MgATP and 50-fold increase in KM for R-MVP.
up seq anno comments: Approximately 100000-fold decrease in Vmax for MgATP.
up seq anno comments: Approximately 1400-fold decrease in Vmax for MgATP and R-MVP. Approximately 3-fold increase in KM for MgATP and R-MVP.
up seq anno comments: Approximately 15-fold decrease in Vmax for MgATP and R-MVP. Approximately 50-fold increase in KM for MgATP and approximately 7-fold in KM for R-MVP.
up seq anno comments: Approximately 20000-fold decrease in Vmax for MgATP.
up seq anno comments: Approximately 3-fold decrease in Vmax for MgATP and R-MVP. Approximately 5-fold increase in KM for MgATP and no change in KM for R-MVP.
up seq anno comments: Approximately 3000-fold decrease in Vmax for MgATP and R-MVP. No change in KM for MgATP and approximately 3-fold increase in KM for R-MVP.
up seq anno comments: Approximately 4-fold decrease in Vmax for MgATP and R-MVP. Approximately 3-fold increase in KM for MgATP and R-MVP.
up seq anno comments: Approximately 500-fold decrease in Vmax for MgATP and R-MVP. Approximately 3-fold increase in KM for MgATP and R-MVP.
up seq anno comments: Approximately 65-fold decrease in Vmax for MgATP and R-MVP. Approximately 8-fold increase in KM for MgATP and 60-fold increase in KM for R-MVP.
up seq anno comments: Approximately 7-fold decrease in Vmax for MgATP and R-MVP. Approximately 10-fold increase in KM for MgATP and 5-fold increase in KM for R-MVP.
up seq anno comments: Approximately 8-fold decrease in Vmax for MgATP and R-MVP. Approximately 5-fold increase in KM for MgATP and R-MVP.
up seq anno comments: Approximately 85-fold decrease in Vmax for MgATP and R-MVP. Approximately 5-fold increase in KM for MgATP and R-MVP.
up seq anno comments: Approximately 9-fold decrease in Vmax for MgATP and R-MVP. Approximately 10-fold increase in KM for MgATP and R-MVP.
up seq anno comments: In POROK1; results in reduced expression and solubility; disturbs subcellular localization with punctate rather than diffuse cytoplasmic distribution.
up seq anno comments: In POROK1; unknown pathological significance.
up seq anno comments: Phosphomevalonate kinase
up seq anno feature ids: PRO_0000058472
up seq anno feature ids: VAR_051283
up seq anno feature ids: VAR_075051
up seq anno feature ids: VAR_080138

9606:UGT2B7
gene id: 9606:UGT2B7
uniprot id: E9PBP8
uniprot id: P16662
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Abolished androsterone glucuronosyltransferase activity; no change in hyodeoxycholic acid and tetrachlorocatechol glucuronosyltransferase activities.
up seq anno comments: Abolished androsterone glucuronosyltransferase activity; reduced hyodeoxycholic acid and tetrachlorocatechol glucuronosyltransferase activities.
up seq anno comments: Abolished androsterone, hyodeoxycholic acid and tetrachlorocatechol glucuronosyltransferase activities.
up seq anno comments: Helical
up seq anno comments: In allele UGT2B7*1.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Reduced androsterone and tetrachlorocatechol glucuronosyltransferase activities; abolished hyodeoxycholic acid glucuronosyltransferase activity.
up seq anno comments: Reduced androsterone, hyodeoxycholic acid and tetrachlorocatechol glucuronosyltransferase activities.
up seq anno comments: UDP-glucuronosyltransferase 2B7
up seq anno feature ids: PRO_0000036031
up seq anno feature ids: PRO_5003245095
up seq anno feature ids: VAR_012342
up seq anno feature ids: VAR_057327
up seq anno feature ids: VAR_057328

9606:SLC2A11
gene id: 9606:SLC2A11
uniprot id: A0A087X018
uniprot id: B7Z6F0
uniprot id: Q6PJ99
uniprot id: Q9BYW1
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=10
up seq anno comments: Helical; Name=11
up seq anno comments: Helical; Name=12
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: Helical; Name=8
up seq anno comments: Helical; Name=9
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 4.
up seq anno comments: Major facilitator superfamily (MFS) profile
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Solute carrier family 2, facilitated glucose transporter member 11
up seq anno feature ids: PRO_0000050380
up seq anno feature ids: VAR_046704
up seq anno feature ids: VAR_046705
up seq anno feature ids: VAR_046706
up seq anno feature ids: VAR_061881
up seq anno feature ids: VAR_061882
up seq anno feature ids: VSP_006293
up seq anno feature ids: VSP_006294
up seq anno feature ids: VSP_006295
up seq anno feature ids: VSP_045650

9606:ERICH6B
gene id: 9606:ERICH6B
uniprot id: Q5W0A0
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Glutamate-rich protein 6B
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000326050
up seq anno feature ids: VAR_039969
up seq anno feature ids: VAR_039970
up seq anno feature ids: VAR_039971
up seq anno feature ids: VAR_039972
up seq anno feature ids: VAR_039973
up seq anno feature ids: VAR_039974
up seq anno feature ids: VAR_039975
up seq anno feature ids: VAR_039976
up seq anno feature ids: VAR_039977
up seq anno feature ids: VAR_039978
up seq anno feature ids: VSP_032523

9606:GJA1
gene id: 9606:GJA1
uniprot id: A0A654IBU3
uniprot id: P17302
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Connexin N-terminal
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Found in a patient with hidrotic ectodermal dysplasia, abortive features of oculodentodigital dysplasia and extensive hyperkeratosis of the skin; unknown pathological significance; the patient also carries GJB2 variant H-127.
up seq anno comments: Gap junction alpha-1 protein
up seq anno comments: Gap junction protein cysteine-rich
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
up seq anno comments: Helical
up seq anno comments: In CMDR.
up seq anno comments: In EKVP3; loss of localization to the plasma membrane, retention in the Golgi apparatus.
up seq anno comments: In HLHS1; unknown pathological significance; associated with Q-362; abolishes phosphorylation by PKA and PKC.
up seq anno comments: In HLHS1; unknown pathological significance; associated with Q-376; abolishes phosphorylation by PKA and PKC.
up seq anno comments: In HSS; overlapping features with oculodentodigital dysplasia.
up seq anno comments: In ODDD.
up seq anno comments: In ODDD; atypical form of ODDD characterized by the predominance of the ocular involvement and by the absence of hand and/or foot syndactyly and absence of any neurologic signs.
up seq anno comments: In ODDD; de novo mutation found in a sporadic case.
up seq anno comments: In PPKCA1; can form functional gap junctions; results in enhanced hemichannel activity that causes increased cell death.
up seq anno comments: In SDTY3.
up seq anno comments: In congenital heart malformations.
up seq anno comments: In heart malformations.
up seq anno comments: In heart malformations; shows abnormalities in the regulation of cell-cell communication as compared with cells expressing normal GJA1.
up seq anno comments: Interaction with NOV
up seq anno comments: Interaction with UBQLN4
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CK1
up seq anno comments: Phosphoserine; by PKC/PRKCG and PKC/PRKCD
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno comments: S-nitrosocysteine
up seq anno feature ids: PRO_0000057801
up seq anno feature ids: VAR_014095
up seq anno feature ids: VAR_014096
up seq anno feature ids: VAR_014100
up seq anno feature ids: VAR_014101
up seq anno feature ids: VAR_014102
up seq anno feature ids: VAR_015747
up seq anno feature ids: VAR_015748
up seq anno feature ids: VAR_015749
up seq anno feature ids: VAR_015750
up seq anno feature ids: VAR_015751
up seq anno feature ids: VAR_015752
up seq anno feature ids: VAR_015753

9606:KDM2B
gene id: 9606:KDM2B
uniprot id: B4DSN4
uniprot id: Q8NHM5
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: CXXC-type
up seq anno comments: Decreased ininteraction with UBB.
up seq anno comments: Disordered
up seq anno comments: F-box
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: Increased interaction with UBB.
up seq anno comments: JmjC
up seq anno comments: LRR 1
up seq anno comments: LRR 2
up seq anno comments: LRR 3
up seq anno comments: LRR 4
up seq anno comments: LRR 5
up seq anno comments: LRR 6
up seq anno comments: LRR 7
up seq anno comments: Lysine-specific demethylase 2B
up seq anno comments: PHD-type
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000119853
up seq anno feature ids: VSP_011340
up seq anno feature ids: VSP_011341
up seq anno feature ids: VSP_017475
up seq anno feature ids: VSP_017476
up seq anno feature ids: VSP_043146
up seq anno feature ids: VSP_043147
up seq anno feature ids: VSP_043148
up seq anno feature ids: VSP_057394
up seq anno feature ids: VSP_057395
up seq anno feature ids: VSP_057396

9606:SLC35G1
gene id: 9606:SLC35G1
uniprot id: B7ZKP0
uniprot id: Q2M3R5
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: EamA
up seq anno comments: EamA 1
up seq anno comments: EamA 2
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Solute carrier family 35 member G1
up seq anno feature ids: PRO_0000244463
up seq anno feature ids: VSP_019566

9606:PLPBP
gene id: 9606:PLPBP
uniprot id: O94903
up seq anno parent labels: Chain
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: In EPVB6D.
up seq anno comments: In EPVB6D; decreased expression at the mRNA level; undetectable at the protein level in patient's fibroblasts.
up seq anno comments: N6-(pyridoxal phosphate)lysine
up seq anno comments: N6-succinyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Pyridoxal phosphate homeostasis protein
up seq anno feature ids: PRO_0000163210
up seq anno feature ids: VAR_052476
up seq anno feature ids: VAR_078004
up seq anno feature ids: VAR_078005
up seq anno feature ids: VAR_078006
up seq anno feature ids: VAR_078007
up seq anno feature ids: VAR_078008

9606:TEAD1
gene id: 9606:TEAD1
uniprot id: P28347
uniprot id: Q59EF3
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: Important loss of interaction with YAP1.
up seq anno comments: In SCRA; loss of interaction with YAP1 and also activation by YAP1.
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: TEA
up seq anno comments: Transcriptional activation
up seq anno comments: Transcriptional enhancer factor TEF-1
up seq anno comments: YAP binding
up seq anno feature ids: PRO_0000205930
up seq anno feature ids: VAR_031530
up seq anno feature ids: VSP_056275
up seq anno feature ids: VSP_056276
up seq anno feature ids: VSP_056277

9606:PSMD3
gene id: 9606:PSMD3
uniprot id: O43242
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: 26S proteasome non-ATPase regulatory subunit 3
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: In isoform 2.
up seq anno comments: PCI
up seq anno comments: Phosphoserine
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000173816
up seq anno feature ids: VSP_056362
up seq anno feature ids: VSP_056363

9606:TIGD3
gene id: 9606:TIGD3
uniprot id: Q6B0B8
up seq anno parent labels: Chain
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno comments: DDE-1
up seq anno comments: H-T-H motif
up seq anno comments: HTH CENPB-type
up seq anno comments: HTH psq-type
up seq anno comments: Tigger transposable element-derived protein 3
up seq anno feature ids: PRO_0000271090

9606:EPB42
gene id: 9606:EPB42
uniprot id: P16452
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Band 3 binding
up seq anno comments: In SPH5; Komatsu.
up seq anno comments: In SPH5; Nippon/Fukuoka.
up seq anno comments: In SPH5; Shiga.
up seq anno comments: In SPH5; Tozeur.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform Long.
up seq anno comments: N-myristoyl glycine
up seq anno comments: Phosphoserine; by PKA
up seq anno comments: Protein 4.2
up seq anno comments: Removed
up seq anno feature ids: PRO_0000213720
up seq anno feature ids: VAR_007482
up seq anno feature ids: VAR_012268
up seq anno feature ids: VAR_058099
up seq anno feature ids: VAR_058100
up seq anno feature ids: VSP_006416
up seq anno feature ids: VSP_055340

9606:ZNF706
gene id: 9606:ZNF706
uniprot id: Q9Y5V0
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type
up seq anno comments: Disordered
up seq anno comments: Polar residues
up seq anno comments: Zinc finger protein 706
up seq anno feature ids: PRO_0000047703

9606:CBX2
gene id: 9606:CBX2
uniprot id: Q14781
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: A.T hook
up seq anno comments: Asymmetric dimethylarginine; alternate
up seq anno comments: Basic and acidic residues
up seq anno comments: Chromo
up seq anno comments: Chromobox protein homolog 2
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In SRXY5.
up seq anno comments: In isoform 2.
up seq anno comments: Involved in the interaction with H3C15 and H3C1
up seq anno comments: Nuclear localization signal
up seq anno comments: Omega-N-methylarginine; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Reduced interaction with H3C15 and H3C1.
up seq anno feature ids: PRO_0000080201
up seq anno feature ids: VAR_063751
up seq anno feature ids: VAR_063752
up seq anno feature ids: VSP_015816
up seq anno feature ids: VSP_015817

9606:STOML3
gene id: 9606:STOML3
uniprot id: Q8TAV4
up seq anno parent labels: Chain
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Helical; Signal-anchor for type III membrane protein
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Stomatin-like protein 3
up seq anno feature ids: PRO_0000094033
up seq anno feature ids: VSP_042937

9606:PXN
gene id: 9606:PXN
uniprot id: A0A140VJQ8
uniprot id: P49023
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 4.
up seq anno comments: In isoform Alpha and isoform 4.
up seq anno comments: In isoform Gamma.
up seq anno comments: LD motif 1
up seq anno comments: LD motif 2
up seq anno comments: LD motif 3
up seq anno comments: LD motif 4
up seq anno comments: LD motif 5
up seq anno comments: LIM zinc-binding
up seq anno comments: LIM zinc-binding 1
up seq anno comments: LIM zinc-binding 2
up seq anno comments: LIM zinc-binding 3
up seq anno comments: LIM zinc-binding 4
up seq anno comments: Loss of interaction with PDCD10.
up seq anno comments: N-acetylmethionine
up seq anno comments: N-acetylserine
up seq anno comments: Paxillin
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CDK5
up seq anno comments: Phosphoserine; by SLK
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Phosphotyrosine; by PTK6
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno comments: Required for binding to PARVA and ILK
up seq anno feature ids: PRO_0000075853
up seq anno feature ids: VAR_065099
up seq anno feature ids: VSP_003114
up seq anno feature ids: VSP_003115
up seq anno feature ids: VSP_040483

9606:ZBTB42
gene id: 9606:ZBTB42
uniprot id: B2RXF5
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: BTB
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: Disordered
up seq anno comments: In LCCS6; loss of function mutation.
up seq anno comments: Zinc finger and BTB domain-containing protein 42
up seq anno feature ids: PRO_0000343711
up seq anno feature ids: VAR_073265

9606:LRPPRC
gene id: 9606:LRPPRC
uniprot id: E5KNY5
uniprot id: P42704
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Transit Peptide
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Transit Peptide
up seq anno comments: In MC4DN5.
up seq anno comments: In MC4DN5; unknown pathological significance.
up seq anno comments: Leucine-rich PPR motif-containing protein, mitochondrial
up seq anno comments: Mitochondrion
up seq anno comments: N6-acetyllysine
up seq anno comments: PPR
up seq anno comments: PPR 1
up seq anno comments: PPR 10
up seq anno comments: PPR 11
up seq anno comments: PPR 12
up seq anno comments: PPR 13
up seq anno comments: PPR 14
up seq anno comments: PPR 15
up seq anno comments: PPR 16
up seq anno comments: PPR 17
up seq anno comments: PPR 18
up seq anno comments: PPR 19
up seq anno comments: PPR 2
up seq anno comments: PPR 20
up seq anno comments: PPR 3
up seq anno comments: PPR 4
up seq anno comments: PPR 5
up seq anno comments: PPR 6
up seq anno comments: PPR 7
up seq anno comments: PPR 8
up seq anno comments: PPR 9
up seq anno comments: Pentacotripeptide-repeat region of PRORP
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: RNA-binding
up seq anno comments: Reduces binding to EIF4E.
up seq anno feature ids: PRO_0000084467
up seq anno feature ids: VAR_018656
up seq anno feature ids: VAR_052935
up seq anno feature ids: VAR_075428
up seq anno feature ids: VAR_075429

9606:KLHL34
gene id: 9606:KLHL34
uniprot id: Q8N239
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno comments: Acidic residues
up seq anno comments: BACK
up seq anno comments: BTB
up seq anno comments: Disordered
up seq anno comments: Kelch 1
up seq anno comments: Kelch 2
up seq anno comments: Kelch 3
up seq anno comments: Kelch 4
up seq anno comments: Kelch 5
up seq anno comments: Kelch 6
up seq anno comments: Kelch-like protein 34
up seq anno feature ids: PRO_0000274597

9606:FXYD1
gene id: 9606:FXYD1
uniprot id: O00168
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Phospholemman
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PKA
up seq anno comments: Phosphoserine; by PKA and PKC
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by PKC
up seq anno comments: S-glutathionyl cysteine; alternate
up seq anno comments: S-palmitoyl cysteine
up seq anno comments: S-palmitoyl cysteine; alternate
up seq anno comments: Significantly reduced half-life; when associated with S-60.
up seq anno comments: Significantly reduced half-life; when associated with S-62.
up seq anno feature ids: PRO_0000010359

9606:CLCN4
gene id: 9606:CLCN4
uniprot id: P51793
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: INTRAMEM
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: INTRAMEM
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Abolishes translocation of protons and chloride ions.
up seq anno comments: CBS 1
up seq anno comments: CBS 2
up seq anno comments: Cytoplasmic
up seq anno comments: H(+)/Cl(-) exchange transporter 4
up seq anno comments: Helical
up seq anno comments: In MRXSRC; also in patients with complex congenital diaphragmatic hernia; unknown pathological significance; no reduction in outwardly-rectifying currents; does not affect its localization in endoplasmic reticulum membrane.
up seq anno comments: In MRXSRC; has normal localization to structures resembling endoplasmic reticulum membranes; almost abolishes the outwardly-rectifying currents.
up seq anno comments: In MRXSRC; marked reduction in outwardly-rectifying currents.
up seq anno comments: In MRXSRC; marked reduction in outwardly-rectifying currents; does not affect its localization in endoplasmic reticulum membrane.
up seq anno comments: In MRXSRC; marked reduction in outwardly-rectifying currents; does not affect its localization in endoplasmic reticulum.
up seq anno comments: In isoform 2.
up seq anno comments: Mediates proton transfer from the outer aqueous phase to the interior of the protein; involved in linking H(+) and Cl(-) transport
up seq anno comments: Mediates proton transfer from the protein to the inner aqueous phase
up seq anno comments: Note=Loop between two helices
up seq anno comments: Required for localization in the endoplasmic reticulum
up seq anno comments: Restores chloride translocation, but not proton transport; when associated with A-281.
up seq anno comments: Selectivity filter part_1
up seq anno comments: Selectivity filter part_2
up seq anno comments: Selectivity filter part_3
up seq anno feature ids: PRO_0000094443
up seq anno feature ids: VAR_077819
up seq anno feature ids: VAR_077820
up seq anno feature ids: VAR_077821
up seq anno feature ids: VAR_077822
up seq anno feature ids: VAR_077823
up seq anno feature ids: VAR_083577
up seq anno feature ids: VAR_083578
up seq anno feature ids: VAR_083579
up seq anno feature ids: VAR_083580
up seq anno feature ids: VAR_083581
up seq anno feature ids: VAR_083582
up seq anno feature ids: VAR_083583
up seq anno feature ids: VSP_054658

9606:NKAPD1
gene id: 9606:NKAPD1
uniprot id: Q6ZUT1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Uncharacterized protein NKAPD1
up seq anno feature ids: PRO_0000274244
up seq anno feature ids: VSP_022685
up seq anno feature ids: VSP_022686

9606:KDM7A
gene id: 9606:KDM7A
uniprot id: Q6ZMT4
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: JmjC
up seq anno comments: Linker
up seq anno comments: Lysine-specific demethylase 7A
up seq anno comments: PHD-type
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000226771
up seq anno feature ids: VAR_049653
up seq anno feature ids: VSP_017458
up seq anno feature ids: VSP_017459

9606:OR4D9
gene id: 9606:OR4D9
uniprot id: A0A126GVP8
uniprot id: Q8NGE8
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 4D9
up seq anno feature ids: PRO_0000150541
up seq anno feature ids: VAR_053170

9606:KRTAP5-1
gene id: 9606:KRTAP5-1
uniprot id: Q6L8H4
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno comments: 1
up seq anno comments: 2
up seq anno comments: 3
up seq anno comments: 4
up seq anno comments: 5
up seq anno comments: 6
up seq anno comments: 7
up seq anno comments: 8
up seq anno comments: 8 X 4 AA repeats of C-C-X-P
up seq anno comments: Keratin-associated protein 5-1
up seq anno feature ids: PRO_0000184099

9606:SMR3B
gene id: 9606:SMR3B
uniprot id: P02814
uniprot id: Q504X8
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Peptide
up seq anno parent labels: Region
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Peptide
up seq anno labels: Region
up seq anno labels: Signal Peptide
up seq anno comments: Disordered
up seq anno comments: Peptide D1A
up seq anno comments: Peptide P-A
up seq anno comments: Pro residues
up seq anno comments: Pyrrolidone carboxylic acid
up seq anno comments: Submaxillary gland androgen-regulated protein 3B
up seq anno feature ids: PRO_0000022112
up seq anno feature ids: PRO_0000022113
up seq anno feature ids: PRO_0000022114
up seq anno feature ids: PRO_5004247542

9606:CLEC2A
gene id: 9606:CLEC2A
uniprot id: Q6UVW9
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: C-type lectin
up seq anno comments: C-type lectin domain family 2 member A
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No effect on affinity for KLRF2.
up seq anno comments: Reduces affinity for KLRF2 360-fold.
up seq anno comments: Reduces affinity for KLRF2 40-fold.
up seq anno comments: Reduces affinity for KLRF2 550-fold.
up seq anno comments: Reduces affinity for KLRF2 over 10'000-fold.
up seq anno comments: Slightly reduces affinity for KLRF2.
up seq anno feature ids: PRO_0000264240
up seq anno feature ids: VAR_029629
up seq anno feature ids: VSP_035643

9606:TPM1
gene id: 9606:TPM1
uniprot id: A0A0K0K1I0
uniprot id: B7Z722
uniprot id: D9YZV4
uniprot id: D9YZV5
uniprot id: D9YZV7
uniprot id: F5H7S3
uniprot id: H0YK48
uniprot id: H7BYY1
uniprot id: O15513
uniprot id: P09493
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Mass
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Helix
up seq anno labels: Mass
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: Impairs interaction with LMOD2 and TMOD1.
up seq anno comments: In CMD1Y.
up seq anno comments: In CMH3.
up seq anno comments: In CMH3; no change in homodimerization; decreased in hom odimer thermal stability; decreased in actin binding; increased calcium-dependent regulation of myosin binding to actin filaments; dominant effect in the homodimer.
up seq anno comments: In CMH3; no change in homodimerization; no change in homodimer thermal stability; decreased actin binding; recessive effect in the homodimer; increased calcium-dependent regulation of myosin binding to actin filaments; dominant effect in the homodimer.
up seq anno comments: In LVNC9.
up seq anno comments: In isoform 10.
up seq anno comments: In isoform 2, isoform 3, isoform 7, isoform 8 and isoform 9.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6 and isoform 7.
up seq anno comments: In isoform 8 and isoform 10.
up seq anno comments: In isoform 8.
up seq anno comments: Increased formation of actin stress fibers.
up seq anno comments: Loss of phosphorylation and decreased formation of actin stress fibers.
up seq anno comments: N-acetylmethionine
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by DAPK1
up seq anno comments: Phosphotyrosine
up seq anno comments: The measured range is 1-284.
up seq anno comments: Tropomyosin alpha-1 chain
up seq anno feature ids: PRO_0000205620
up seq anno feature ids: VAR_007601
up seq anno feature ids: VAR_007602
up seq anno feature ids: VAR_013135
up seq anno feature ids: VAR_029452
up seq anno feature ids: VAR_043986
up seq anno feature ids: VAR_043987
up seq anno feature ids: VAR_070121
up seq anno feature ids: VAR_070122
up seq anno feature ids: VSP_006576
up seq anno feature ids: VSP_006577
up seq anno feature ids: VSP_006578
up seq anno feature ids: VSP_006579
up seq anno feature ids: VSP_017498
up seq anno feature ids: VSP_017499
up seq anno feature ids: VSP_036064
up seq anno feature ids: VSP_047297
up seq anno feature ids: VSP_047298

9606:RPS6KA3
gene id: 9606:RPS6KA3
uniprot id: A0A384MDW3
uniprot id: B1AXG1
uniprot id: B4DG22
uniprot id: B7ZB17
uniprot id: P51812
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: AGC-kinase C-terminal
up seq anno comments: Disordered
up seq anno comments: In CLS.
up seq anno comments: In XLID19.
up seq anno comments: In XLID19; kinase activity is decreased but not abolished.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In a gastric adenocarcinoma sample; somatic mutation.
up seq anno comments: In a glioblastoma multiforme sample; somatic mutation.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PDPK1
up seq anno comments: Phosphoserine; by autocatalysis and MAPKAPK2
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine; by FGFR3
up seq anno comments: Protein kinase
up seq anno comments: Protein kinase 1
up seq anno comments: Protein kinase 2
up seq anno comments: Proton acceptor
up seq anno comments: Ribosomal protein S6 kinase alpha-3
up seq anno feature ids: PRO_0000086203
up seq anno feature ids: VAR_006188
up seq anno feature ids: VAR_006189
up seq anno feature ids: VAR_006190
up seq anno feature ids: VAR_006191
up seq anno feature ids: VAR_006192
up seq anno feature ids: VAR_006193
up seq anno feature ids: VAR_006194
up seq anno feature ids: VAR_006195
up seq anno feature ids: VAR_006196
up seq anno feature ids: VAR_006197
up seq anno feature ids: VAR_035627
up seq anno feature ids: VAR_040629
up seq anno feature ids: VAR_040630
up seq anno feature ids: VAR_040631
up seq anno feature ids: VAR_065892
up seq anno feature ids: VAR_065893
up seq anno feature ids: VAR_065894
up seq anno feature ids: VAR_065895
up seq anno feature ids: VAR_065896
up seq anno feature ids: VAR_065897
up seq anno feature ids: VAR_065898

9606:SEC61A1
gene id: 9606:SEC61A1
uniprot id: B3KME8
uniprot id: B3KNF6
uniprot id: P61619
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Helical
up seq anno comments: In ADTKD5; decreases in protein stability; partly confers novel Golgi subcellular location.
up seq anno comments: In isoform 3.
up seq anno comments: Lumenal
up seq anno comments: Probable disease-associated variant found in a family with hypogammaglobulinemia; decreased function in cotranslational protein targeting to endoplasmic reticulum.
up seq anno comments: Protein transport protein Sec61 subunit alpha isoform 1
up seq anno comments: Reduces cotranslational translocation of APLN precursor/preproapelin.
up seq anno comments: Translocon Sec61/SecY plug
up seq anno feature ids: PRO_0000131791
up seq anno feature ids: VAR_077059
up seq anno feature ids: VAR_077060
up seq anno feature ids: VAR_080231
up seq anno feature ids: VSP_013747

9606:AGK
gene id: 9606:AGK
uniprot id: A4D1U5
uniprot id: Q53H12
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Abolishes lipid kinase activity. Does not affect ability to associate with the TIM22 complex and mediate import of transmembrane proteins into the mitochondrial inner membrane.
up seq anno comments: Acylglycerol kinase, mitochondrial
up seq anno comments: DAGKc
up seq anno comments: Disordered
up seq anno comments: Hydrophobic
up seq anno comments: In MTDPS10.
up seq anno comments: In isoform 2.
up seq anno comments: N6-acetyllysine
up seq anno feature ids: PRO_0000252380
up seq anno feature ids: VAR_027848
up seq anno feature ids: VAR_079050
up seq anno feature ids: VAR_079051
up seq anno feature ids: VAR_079052
up seq anno feature ids: VSP_020925
up seq anno feature ids: VSP_020926

9606:OR5T3
gene id: 9606:OR5T3
uniprot id: Q8NGG3
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 5T3
up seq anno feature ids: PRO_0000150615
up seq anno feature ids: VAR_047836

9606:ASAH2
gene id: 9606:ASAH2
uniprot id: Q9NR71
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cleavage
up seq anno comments: Cytoplasmic
up seq anno comments: Decreased ceramide hydrolase activity.
up seq anno comments: Disordered
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In isoform 2.
up seq anno comments: Loss of ceramide hydrolase activity.
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Neutral ceramidase
up seq anno comments: Neutral ceramidase soluble form
up seq anno comments: No effect on ceramide hydrolase activity.
up seq anno comments: Nucleophile
up seq anno comments: O-linked (GalNAc...) serine
up seq anno comments: O-linked (GalNAc...) threonine
up seq anno comments: Required for correct folding and localization
up seq anno feature ids: PRO_0000247099
up seq anno feature ids: PRO_0000247100
up seq anno feature ids: VAR_027064
up seq anno feature ids: VAR_027065
up seq anno feature ids: VSP_019928

9606:PCDHGA3
gene id: 9606:PCDHGA3
uniprot id: Q9Y5H0
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cadherin 1
up seq anno comments: Cadherin 2
up seq anno comments: Cadherin 3
up seq anno comments: Cadherin 4
up seq anno comments: Cadherin 5
up seq anno comments: Cadherin 6
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: Protocadherin gamma-A3
up seq anno feature ids: PRO_0000003952
up seq anno feature ids: VAR_055588
up seq anno feature ids: VAR_055589
up seq anno feature ids: VAR_059190
up seq anno feature ids: VSP_008663
up seq anno feature ids: VSP_008664

9606:TBC1D13
gene id: 9606:TBC1D13
uniprot id: B3KNG3
uniprot id: B4DHM6
uniprot id: Q9NVG8
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Rab-GAP TBC
up seq anno comments: TBC1 domain family member 13
up seq anno feature ids: PRO_0000208038
up seq anno feature ids: VAR_070804
up seq anno feature ids: VSP_039845
up seq anno feature ids: VSP_053994

9606:DCUN1D2
gene id: 9606:DCUN1D2
uniprot id: Q6PH85
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: DCN1-like protein 2
up seq anno comments: DCUN1
up seq anno comments: In isoform 2.
up seq anno comments: Loss of interaction with CUL1, CUL2, CUL3, CULA4, CULA5 CAND1 and RBX1; when associated with A-211 and A-241. Does not affect both nucleus and cytoplasm localization; when associated with A-211 and A-241.
up seq anno comments: Loss of interaction with CUL1, CUL2, CUL3, CULA4, CULA5 CAND1 and RBX1; when associated with A-211 and R-235. Does not affect both nucleus and cytoplasm localization; when associated with A-211 and R-235.
up seq anno comments: Loss of interaction with CUL1, CUL2, CUL3, CULA4, CULA5 CAND1 and RBX1; when associated with R-235 and A-241. Does not affect both nucleus and cytoplasm localization; when associated with R-235 and A-241.
up seq anno comments: Phosphoserine
up seq anno comments: UBA-like
up seq anno feature ids: PRO_0000129501
up seq anno feature ids: VSP_015315
up seq anno feature ids: VSP_015316

9606:VPS37A
gene id: 9606:VPS37A
uniprot id: Q8NEZ2
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In SPG53; found in patients with complex hereditary spastic paraparesis; hypomorphic mutation; does not affect interaction with TSG101 and VPS28.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno comments: VPS37 C-terminal
up seq anno comments: Vacuolar protein sorting-associated protein 37A
up seq anno feature ids: PRO_0000287198
up seq anno feature ids: VAR_032287
up seq anno feature ids: VAR_032288
up seq anno feature ids: VAR_068424
up seq anno feature ids: VSP_025367
up seq anno feature ids: VSP_025368
up seq anno feature ids: VSP_025369

9606:ATP8A2
gene id: 9606:ATP8A2
uniprot id: B7Z880
uniprot id: Q6ZU25
uniprot id: Q9NTI2
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: 4-aspartylphosphate intermediate
up seq anno comments: Abolishes ATPase activity.
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In CAMRQ4; abolishes ATPase activity. No effect on interaction with TMEM30A.
up seq anno comments: In CAMRQ4; unknown pathological significance.
up seq anno comments: In CAMRQ4; unknown pathological significance; abolishes ATPase activity and results in protein misfolding and proteasomal degradation. No effect on interaction with TMEM30A.
up seq anno comments: In CAMRQ4; unknown pathological significance; abolishes ATPase activity. No effect on interaction with TMEM30A.
up seq anno comments: In CAMRQ4; unknown pathological significance; results in protein misfolding and proteasomal degradation.
up seq anno comments: In isoform 1 and isoform 2.
up seq anno comments: In isoform 2.
up seq anno comments: Involved in the recognition of the lipid substrate on the exoplasmic side
up seq anno comments: Involved in the release of the transported lipid into the cytosolic leaflet
up seq anno comments: No effect on flippase activity toward phosphatidylserine. Like the wild type, it is unable to translocate phosphatidylcholine.
up seq anno comments: P-type ATPase C-terminal
up seq anno comments: P-type ATPase N-terminal
up seq anno comments: Phospholipid-transporting ATPase IB
up seq anno comments: Phosphothreonine
up seq anno comments: Reduced flippase activity toward phosphatidylserine. Like the wild type, it is unable to translocate phosphatidylcholine.
up seq anno feature ids: PRO_0000046362
up seq anno feature ids: VAR_055543
up seq anno feature ids: VAR_069928
up seq anno feature ids: VAR_084370
up seq anno feature ids: VAR_084371
up seq anno feature ids: VAR_084372
up seq anno feature ids: VAR_084373
up seq anno feature ids: VAR_084374
up seq anno feature ids: VAR_084375
up seq anno feature ids: VAR_084376
up seq anno feature ids: VAR_084377
up seq anno feature ids: VSP_059718
up seq anno feature ids: VSP_059719
up seq anno feature ids: VSP_059720

9606:NEK2
gene id: 9606:NEK2
uniprot id: F6U4U2
uniprot id: P51955
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Interaction with CEP85
up seq anno comments: Interaction with PCNT
up seq anno comments: Interaction with SAV1 and STK3/MST2
up seq anno comments: Kinase activity decreased by two fold.
up seq anno comments: Kinase activity increased by two fold.
up seq anno comments: Leucine-zipper
up seq anno comments: Loss of autophosphorylation.
up seq anno comments: Loss of kinase activity and of ability to activate NEK11. Loss of phosphorylation of CCDC102B.
up seq anno comments: Loss of kinase activity.
up seq anno comments: Necessary for interaction with MAD1L1
up seq anno comments: No effect on kinase activity.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by STK3/MST2
up seq anno comments: Phosphoserine; by autocatalysis
up seq anno comments: Phosphothreonine; by autocatalysis
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Required for microtubule binding and for localization to the centrosomes
up seq anno comments: Serine/threonine-protein kinase Nek2
up seq anno feature ids: PRO_0000086421
up seq anno feature ids: VAR_019990
up seq anno feature ids: VAR_040907
up seq anno feature ids: VSP_015576
up seq anno feature ids: VSP_015577
up seq anno feature ids: VSP_015578
up seq anno feature ids: VSP_015579
up seq anno feature ids: VSP_041758

9606:GPR63
gene id: 9606:GPR63
uniprot id: A8K1C4
uniprot id: Q9BZJ6
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Probable G-protein coupled receptor 63
up seq anno feature ids: PRO_0000069581
up seq anno feature ids: VAR_049396

9606:RCL1
gene id: 9606:RCL1
uniprot id: Q5VZU3
uniprot id: Q9Y2P8
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: RNA 3'-terminal phosphate cyclase
up seq anno comments: RNA 3'-terminal phosphate cyclase insert
up seq anno comments: RNA 3'-terminal phosphate cyclase-like protein
up seq anno feature ids: PRO_0000156438
up seq anno feature ids: VSP_056452
up seq anno feature ids: VSP_056453

9606:SLC1A7
gene id: 9606:SLC1A7
uniprot id: A0A087WUF9
uniprot id: F1T0D3
uniprot id: F1T0D4
uniprot id: G1CT06
uniprot id: O00341
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Excitatory amino acid transporter 5
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000202073
up seq anno feature ids: VAR_035707
up seq anno feature ids: VAR_052488
up seq anno feature ids: VSP_056560
up seq anno feature ids: VSP_056561

9606:CCR10
gene id: 9606:CCR10
uniprot id: P46092
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: C-C chemokine receptor type 10
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000069293

9606:UBE2R2
gene id: 9606:UBE2R2
uniprot id: Q712K3
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes phosphorylation by CK2.
up seq anno comments: Acidic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl thioester intermediate
up seq anno comments: Loss of function.
up seq anno comments: Phosphoserine; by CK2
up seq anno comments: UBC core
up seq anno comments: Ubiquitin-conjugating enzyme E2 R2
up seq anno feature ids: PRO_0000280513

9606:CPB2
gene id: 9606:CPB2
uniprot id: A0A087WSY5
uniprot id: Q96IY4
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Propeptide
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Activation peptide
up seq anno comments: Carboxypeptidase B2
up seq anno comments: Cleavage; by thrombin
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) (complex) asparagine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: N-linked (GlcNAc...) asparagine; partial
up seq anno comments: Peptidase M14 carboxypeptidase A
up seq anno comments: Proton donor/acceptor
up seq anno feature ids: PRO_0000004377
up seq anno feature ids: PRO_0000004378
up seq anno feature ids: PRO_5001831887
up seq anno feature ids: VAR_022258
up seq anno feature ids: VAR_032565
up seq anno feature ids: VSP_013446
up seq anno feature ids: VSP_013447

9606:TPRX1
gene id: 9606:TPRX1
uniprot id: D2CFI5
uniprot id: Q8N7U7
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: Homeobox
up seq anno comments: In isoform 2.
up seq anno comments: Pro residues
up seq anno comments: Tetra-peptide repeat homeobox protein 1
up seq anno feature ids: PRO_0000285591
up seq anno feature ids: VSP_027444

9606:NCR1
gene id: 9606:NCR1
uniprot id: A0A0A0MQZ0
uniprot id: A0A0A0MR94
uniprot id: A0A0A0MTU0
uniprot id: O76036
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Ig-like 1
up seq anno comments: Ig-like 2
up seq anno comments: Immunoglobulin subtype
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Natural cytotoxicity triggering receptor 1
up seq anno feature ids: PRO_0000015027
up seq anno feature ids: PRO_5014015972
up seq anno feature ids: PRO_5014015973
up seq anno feature ids: PRO_5014015975
up seq anno feature ids: VAR_018633
up seq anno feature ids: VAR_035527
up seq anno feature ids: VSP_010406
up seq anno feature ids: VSP_010407
up seq anno feature ids: VSP_010408
up seq anno feature ids: VSP_038384

9606:CPNE7
gene id: 9606:CPNE7
uniprot id: Q9UBL6
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: C2 1
up seq anno comments: C2 2
up seq anno comments: Copine-7
up seq anno comments: In isoform 2.
up seq anno comments: VWFA
up seq anno feature ids: PRO_0000144848
up seq anno feature ids: VAR_021955
up seq anno feature ids: VAR_021956
up seq anno feature ids: VAR_033822
up seq anno feature ids: VAR_048849
up seq anno feature ids: VSP_001215

9606:BNIPL
gene id: 9606:BNIPL
uniprot id: Q7Z465
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Bcl-2/adenovirus E1B 19 kDa-interacting protein 2-like protein
up seq anno comments: CRAL-TRIO
up seq anno comments: Disordered
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000210770
up seq anno feature ids: VAR_051917
up seq anno feature ids: VAR_051918
up seq anno feature ids: VSP_012448
up seq anno feature ids: VSP_012449

9606:SEH1L
gene id: 9606:SEH1L
uniprot id: Q96EE3
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform B.
up seq anno comments: Nucleoporin SEH1
up seq anno comments: Phosphoserine
up seq anno comments: WD 1
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno feature ids: PRO_0000051213
up seq anno feature ids: VAR_053417
up seq anno feature ids: VSP_037954

9606:FAM149A
gene id: 9606:FAM149A
uniprot id: A5PLN7
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Polar residues
up seq anno comments: Protein FAM149A
up seq anno feature ids: PRO_0000319930
up seq anno feature ids: VAR_039050
up seq anno feature ids: VAR_039051
up seq anno feature ids: VAR_039052
up seq anno feature ids: VAR_039053
up seq anno feature ids: VAR_039054
up seq anno feature ids: VAR_039055
up seq anno feature ids: VSP_031530
up seq anno feature ids: VSP_031531
up seq anno feature ids: VSP_031532

9606:CD300LG
gene id: 9606:CD300LG
uniprot id: Q6UXG3
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: CMRF35-like molecule 9
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Ig-like V-type
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3, isoform 4 and isoform 5.
up seq anno comments: In isoform 5.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: O-linked (GalNAc...) serine
up seq anno comments: O-linked (GalNAc...) threonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000306112
up seq anno feature ids: VAR_035261
up seq anno feature ids: VAR_035262
up seq anno feature ids: VSP_028410
up seq anno feature ids: VSP_028411
up seq anno feature ids: VSP_028412
up seq anno feature ids: VSP_045362

9606:TASP1
gene id: 9606:TASP1
uniprot id: Q9H6P5
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 0.1% enzymatic activity; no intramolecular processing.
up seq anno comments: Complete loss of enzymatic activity; no intramolecular processing.
up seq anno comments: Disordered
up seq anno comments: In SULEHS.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Nucleophile
up seq anno comments: Threonine aspartase subunit alpha
up seq anno comments: Threonine aspartase subunit beta
up seq anno feature ids: PRO_0000002350
up seq anno feature ids: PRO_0000002351
up seq anno feature ids: VAR_084461
up seq anno feature ids: VAR_084462
up seq anno feature ids: VSP_056327
up seq anno feature ids: VSP_056328
up seq anno feature ids: VSP_056533
up seq anno feature ids: VSP_056534

9606:CCND1
gene id: 9606:CCND1
uniprot id: P24385
uniprot id: Q6FI00
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Cyclin N-terminal
up seq anno comments: Disordered
up seq anno comments: G1/S-specific cyclin-D1
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Phosphothreonine
up seq anno comments: Reduced interaction with the DCX(AMBRA1) complex, and subsequent ubiquitination and degradation by the proteasome.
up seq anno comments: Reduced interaction with the DCX(AMBRA1) complex, and subsequent ubiquitination and degradation by the proteasome. Abolished ubiquitination and subsequent degradation following DNA damage.
up seq anno comments: Reduced ubiquitination and subsequent degradation by the proteasome.
up seq anno feature ids: PRO_0000080430

9606:SPEM1
gene id: 9606:SPEM1
uniprot id: Q8N4L4
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Region
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: Spermatid maturation protein 1
up seq anno feature ids: PRO_0000307806

9606:CCDC88A
gene id: 9606:CCDC88A
uniprot id: O14997
uniprot id: Q3V6T2
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Abolishes binding to phosphorylated EGFR.
up seq anno comments: Abolishes interaction with GNAI3.
up seq anno comments: Abolishes interaction with and activation of GNAI3 and also abolishes recruitment of GNAI3 to EGFR. Reduced EGFR autophosphorylation and SH2 adapter recruitment, reduced localization of EGFR at the cell membrane following ligand stimulation with increased endosomal localization, reduced cell migration and increased cell proliferation. Abolishes enhancement of AKT signaling. Abolishes interaction with GNAS.
up seq anno comments: Abolishes phosphorylation and leads to reduced AKT phosphorylation, impaired formation of actin stress fibers and impaired cell migration abolishes interaction with PIK3R1 and activation of PI3K, reduces phosphorylation of Ser-1417 but does not affect interaction with or activation of GNAI3; when associated with F-1799.
up seq anno comments: Abolishes phosphorylation and leads to reduced AKT phosphorylation, impaired formation of actin stress fibers and impaired cell migration, abolishes interaction with PIK3R1 and activation of PI3K activity, reduces phosphorylation of Ser-1417 but does not affect interaction with or activation of GNAI3; when associated with F-1765.
up seq anno comments: Basic and acidic residues
up seq anno comments: Calponin-homology (CH)
up seq anno comments: Disordered
up seq anno comments: Does not affect binding to phosphorylated EGFR.
up seq anno comments: GBA
up seq anno comments: Girdin
up seq anno comments: HOOK N-terminal
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 3, isoform 4 and isoform 5.
up seq anno comments: In isoform 5.
up seq anno comments: Increases binding to phosphorylated EGFR.
up seq anno comments: No effect on guanine nucleotide exchange factor activity.
up seq anno comments: Phosphoinositide-binding
up seq anno comments: Phosphomimetic mutant which abolishes interaction with GNAI3, inhibits guanine nucleotide exchange factor activity, inhibits cell migration and triggers cell proliferation. Retains ability to bind to GNAS. Increased inhibition of GNAS; when associated with D-1675.
up seq anno comments: Phosphomimetic mutant which has no effect on tyrosine phosphorylation.
up seq anno comments: Phosphomimetic mutant which results in slight increase in binding to GNAI3 and GNAS. Increased inhibition of GNAS; when associated with D-1690.
up seq anno comments: Phosphorylation-deficient mutant which disrupts actin organization, cell migration and lamellipodia formation but has no effect on tyrosine phosphorylation.
up seq anno comments: Phosphorylation-deficient mutant which disrupts binding to GNAI3 and GNAS.
up seq anno comments: Phosphorylation-deficient mutant which retains the ability to bind GNAI3.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PKB/AKT1
up seq anno comments: Phosphoserine; by PKC/PRKCQ
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: SH2-like; required for interaction with growth factor receptors
up seq anno feature ids: PRO_0000287429
up seq anno feature ids: VSP_040129
up seq anno feature ids: VSP_044943
up seq anno feature ids: VSP_052409

9606:HOMER2
gene id: 9606:HOMER2
uniprot id: Q9NSB8
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Homer protein homolog 2
up seq anno comments: In DFNA68.
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno comments: WH1
up seq anno feature ids: PRO_0000191008
up seq anno feature ids: VAR_053366
up seq anno feature ids: VAR_053367
up seq anno feature ids: VAR_075751
up seq anno feature ids: VSP_041731

9606:ACSM4
gene id: 9606:ACSM4
uniprot id: P0C7M7
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Transit Peptide
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno labels: Transit Peptide
up seq anno comments: Acyl-coenzyme A synthetase ACSM4, mitochondrial
up seq anno comments: Mitochondrion
up seq anno feature ids: PRO_0000339384
up seq anno feature ids: VAR_061010

9606:DNAAF9
gene id: 9606:DNAAF9
uniprot id: Q0IIP3
uniprot id: Q5TEA3
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: Dynein axonemal assembly factor 9
up seq anno feature ids: PRO_0000236042
up seq anno feature ids: VAR_050923
up seq anno feature ids: VAR_050924
up seq anno feature ids: VAR_059637
up seq anno feature ids: VAR_065913

9606:PCED1B
gene id: 9606:PCED1B
uniprot id: Q96HM7
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: PC-esterase domain-containing protein 1B
up seq anno feature ids: PRO_0000331356
up seq anno feature ids: VAR_042761

9606:GIN1
gene id: 9606:GIN1
uniprot id: Q9NXP7
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Gypsy retrotransposon integrase-like protein 1
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Integrase catalytic
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000333016
up seq anno feature ids: VAR_043041
up seq anno feature ids: VAR_043042
up seq anno feature ids: VSP_033438
up seq anno feature ids: VSP_033439
up seq anno feature ids: VSP_038518
up seq anno feature ids: VSP_038519

9606:RAB11FIP4
gene id: 9606:RAB11FIP4
uniprot id: Q86YS3
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Abolishes Rab11-binding.
up seq anno comments: Disordered
up seq anno comments: EF-hand
up seq anno comments: FIP-RBD
up seq anno comments: In isoform 2.
up seq anno comments: Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization
up seq anno comments: Polar residues
up seq anno comments: Rab11 family-interacting protein 4
up seq anno feature ids: PRO_0000073880
up seq anno feature ids: VSP_013724
up seq anno feature ids: VSP_013725

9606:REM1
gene id: 9606:REM1
uniprot id: O75628
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Calmodulin-binding
up seq anno comments: Disordered
up seq anno comments: GTP-binding protein REM 1
up seq anno comments: No endothelial cell sprouting.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000122481
up seq anno feature ids: VAR_049498
up seq anno feature ids: VAR_049499
up seq anno feature ids: VAR_061232

9606:MEAK7
gene id: 9606:MEAK7
uniprot id: A8K5C2
uniprot id: Q6P9B6
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Initiator Methionine
up seq anno labels: Lipid Binding
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno comments: Abolishes lysosomal location.
up seq anno comments: MTOR-associated protein MEAK7
up seq anno comments: N-myristoyl glycine
up seq anno comments: Removed
up seq anno comments: TLDc
up seq anno feature ids: PRO_0000313640
up seq anno feature ids: VAR_037675
up seq anno feature ids: VAR_037676
up seq anno feature ids: VAR_037677
up seq anno feature ids: VAR_037678
up seq anno feature ids: VAR_037679
up seq anno feature ids: VAR_037680
up seq anno feature ids: VAR_037681

9606:ZDHHC13
gene id: 9606:ZDHHC13
uniprot id: Q8IUH4
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: ANK 1
up seq anno comments: ANK 2
up seq anno comments: ANK 3
up seq anno comments: ANK 4
up seq anno comments: ANK 5
up seq anno comments: ANK 6
up seq anno comments: ANK 7
up seq anno comments: Cytoplasmic
up seq anno comments: DHHC
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Lumenal
up seq anno comments: N-acetylmethionine
up seq anno comments: Palmitoyltransferase ZDHHC13
up seq anno comments: S-palmitoyl cysteine intermediate
up seq anno feature ids: PRO_0000212887
up seq anno feature ids: VAR_023835
up seq anno feature ids: VAR_057490
up seq anno feature ids: VSP_010028
up seq anno feature ids: VSP_010029

9606:BRD1
gene id: 9606:BRD1
uniprot id: O95696
uniprot id: Q59G93
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Bromo
up seq anno comments: Bromodomain-containing protein 1
up seq anno comments: C2HC pre-PHD-type
up seq anno comments: Decreased interaction with free histones.
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Impaired interaction with KAT7/HBO1.
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with KAT7/HBO1 and histones
up seq anno comments: N6-acetyllysine
up seq anno comments: PHD-type 1
up seq anno comments: PHD-type 2
up seq anno comments: PWWP
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000211177
up seq anno feature ids: VAR_048424
up seq anno feature ids: VAR_048425
up seq anno feature ids: VAR_048426
up seq anno feature ids: VAR_079184
up seq anno feature ids: VSP_040262

9606:COLEC12
gene id: 9606:COLEC12
uniprot id: Q5KU26
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: C-type lectin
up seq anno comments: Collagen-like 1
up seq anno comments: Collagen-like 2
up seq anno comments: Collagen-like 3
up seq anno comments: Collectin-12
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000318681
up seq anno feature ids: VAR_038853
up seq anno feature ids: VAR_038854
up seq anno feature ids: VAR_038855
up seq anno feature ids: VAR_038856

9606:SPMAP2L
gene id: 9606:SPMAP2L
uniprot id: P0DJG4
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Polar residues
up seq anno comments: Sperm microtubule associated protein 2-like
up seq anno comments: THEG 1
up seq anno comments: THEG 2
up seq anno comments: THEG 3
up seq anno comments: THEG 4
up seq anno comments: THEG 5
up seq anno comments: THEG 6
up seq anno comments: THEG 7
up seq anno comments: THEG 8
up seq anno feature ids: PRO_0000416826

9606:PPP1R1A
gene id: 9606:PPP1R1A
uniprot id: Q13522
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: 1000-fold reduction in activity, inhibits equally PP1 and PP2A.
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Essential for activity
up seq anno comments: Interaction with PPP1R15A
up seq anno comments: N-acetylmethionine
up seq anno comments: No activity.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine; by PKA
up seq anno comments: Polar residues
up seq anno comments: Protein phosphatase 1 regulatory subunit 1A
up seq anno feature ids: PRO_0000071477
up seq anno feature ids: VAR_053898
up seq anno feature ids: VAR_053899

9606:UBTD1
gene id: 9606:UBTD1
uniprot id: Q9HAC8
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Ubiquitin domain-containing protein 1
up seq anno comments: Ubiquitin-like
up seq anno feature ids: PRO_0000242674

9606:ZNF195
gene id: 9606:ZNF195
uniprot id: O14628
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 2; degenerate
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 4 and isoform 7.
up seq anno comments: In isoform 5 and isoform 6.
up seq anno comments: In isoform 6, isoform 7 and isoform 8.
up seq anno comments: In isoform 8.
up seq anno comments: KRAB
up seq anno comments: N6-acetyllysine
up seq anno comments: Spacer
up seq anno comments: Zinc finger protein 195
up seq anno feature ids: PRO_0000047447
up seq anno feature ids: VSP_036879
up seq anno feature ids: VSP_036880
up seq anno feature ids: VSP_036881
up seq anno feature ids: VSP_045071
up seq anno feature ids: VSP_045072

9606:IRF2BP2
gene id: 9606:IRF2BP2
uniprot id: Q7Z5L9
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: Cys-rich
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In CVID14; increased protein abundance in patient-derived B lymphocytes; impairs immature B cell differentiation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Interferon regulatory factor 2-binding protein 2
up seq anno comments: N-acetylalanine
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: RING-type; degenerate
up seq anno comments: Removed
up seq anno feature ids: PRO_0000328734
up seq anno feature ids: VAR_042503
up seq anno feature ids: VAR_080578
up seq anno feature ids: VSP_032769
up seq anno feature ids: VSP_032770

9606:FAM177A1
gene id: 9606:FAM177A1
uniprot id: Q8N128
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Protein FAM177A1
up seq anno feature ids: PRO_0000089885
up seq anno feature ids: VSP_038223

9606:CD4
gene id: 9606:CD4
uniprot id: A0A4Y5UGE4
uniprot id: B0AZV7
uniprot id: B4DT49
uniprot id: P01730
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Abolished interaction with SPG21 and induced T-cell activation.
up seq anno comments: About 75% loss of internalization.
up seq anno comments: Abrogates the interaction with MHCII and T cell activation.
up seq anno comments: CD4 extracellular
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: HIV-1 Vpu-susceptibility domain
up seq anno comments: Has no effect on the interaction with MHCII. Impairs recognition by OKT4 antibody.
up seq anno comments: Helical
up seq anno comments: Ig-like
up seq anno comments: Ig-like C2-type 1
up seq anno comments: Ig-like C2-type 2
up seq anno comments: Ig-like C2-type 3
up seq anno comments: Ig-like V-type
up seq anno comments: Immunoglobulin C2-set
up seq anno comments: In OKT4-negative populations.
up seq anno comments: Increases the affinity for MHCII; when associated with W-70; R-85 and R-88.
up seq anno comments: Increases the affinity for MHCII; when associated with Y-65; R-85 and R-88.
up seq anno comments: Increases the affinity for MHCII; when associated with Y-65; W-70 and R-85.
up seq anno comments: Increases the affinity for MHCII; when associated with Y-65; W-70 and R-88.
up seq anno comments: Loss of Nef-induced CD4 down-modulation.
up seq anno comments: Loss of homodimerization; when associated with A-445.
up seq anno comments: Loss of homodimerization; when associated with A-447.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No effect.
up seq anno comments: Phosphoserine
up seq anno comments: S-palmitoyl cysteine
up seq anno comments: T cell CD4 receptor C-terminal region
up seq anno comments: T-cell surface glycoprotein CD4
up seq anno feature ids: CAR_000053
up seq anno feature ids: CAR_000054
up seq anno feature ids: PRO_0000014621
up seq anno feature ids: PRO_5021371852
up seq anno feature ids: VAR_003906
up seq anno feature ids: VAR_023459
up seq anno feature ids: VAR_023460

9606:TGFBR1
gene id: 9606:TGFBR1
uniprot id: A0A8V8TMH4
uniprot id: B4DXN7
uniprot id: P36897
uniprot id: Q5T7S2
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Constitutive activation.
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: FKBP1A-binding
up seq anno comments: GS
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
up seq anno comments: Helical
up seq anno comments: In LDS1.
up seq anno comments: In MSSE; hypomorphic variant.
up seq anno comments: In a patient with Marfan syndrome.
up seq anno comments: In allele TGFBR1*10A.
up seq anno comments: In allele TGFBR1*6A; could be a tumor susceptibility allele.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of interaction with FKBP1A.
up seq anno comments: Loss of phosphorylation on threonine residues. Loss of threonine phosphorylation, reduced phosphorylation on serine residues and loss of response to TGF-beta; when associated with A-187; A-189 and A-191.
up seq anno comments: Loss of phosphorylation. Loss of response to TGF-beta.
up seq anno comments: Loss of response to TGF-beta.
up seq anno comments: Loss of threonine phosphorylation, reduced phosphorylation on serine residues and loss of response to TGF-beta; when associated with 185-VV-186; A-187 and A-189.
up seq anno comments: Loss of threonine phosphorylation, reduced phosphorylation on serine residues and loss of response to TGF-beta; when associated with 185-VV-186; A-187 and A-191.
up seq anno comments: Loss of threonine phosphorylation, reduced phosphorylation on serine residues and loss of response to TGF-beta; when associated with 185-VV-186; A-189 and A-191.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by TGFBR2
up seq anno comments: Phosphothreonine; by TGFBR2
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Reduced phosphorylation. Reduced response to TGF-beta.
up seq anno comments: TGF-beta receptor type-1
up seq anno comments: receptor protein serine/threonine kinase
up seq anno feature ids: PRO_0000024423
up seq anno feature ids: PRO_5002801077

9606:FBXO42
gene id: 9606:FBXO42
uniprot id: Q6P3S6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: F-box
up seq anno comments: F-box only protein 42
up seq anno comments: Kelch 1
up seq anno comments: Kelch 2
up seq anno comments: Kelch 3
up seq anno comments: Kelch 4
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000119942
up seq anno feature ids: VAR_024447

9606:OR8B12
gene id: 9606:OR8B12
uniprot id: A0A126GWS7
uniprot id: Q8NGG6
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 8B12
up seq anno feature ids: PRO_0000150658

9606:DMXL1
gene id: 9606:DMXL1
uniprot id: B2RWN7
uniprot id: F1T0K4
uniprot id: F5H269
uniprot id: Q9Y485
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Acidic residues
up seq anno comments: Disordered
up seq anno comments: DmX-like protein 1
up seq anno comments: Phosphoserine
up seq anno comments: RAVE complex protein Rav1 C-terminal
up seq anno comments: WD
up seq anno comments: WD 1
up seq anno comments: WD 10
up seq anno comments: WD 11
up seq anno comments: WD 12
up seq anno comments: WD 14
up seq anno comments: WD 15
up seq anno comments: WD 16
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno comments: WD 7
up seq anno comments: WD 8
up seq anno comments: WD 9
up seq anno feature ids: PRO_0000223322
up seq anno feature ids: VAR_057589
up seq anno feature ids: VAR_057590
up seq anno feature ids: VAR_057591
up seq anno feature ids: VAR_057592

9606:LIN54
gene id: 9606:LIN54
uniprot id: Q6MZP7
uniprot id: Q7Z3G2
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes DNA-binding to the CDK1 promoter; when associated with Y-525.
up seq anno comments: Abolishes DNA-binding to the CDK1 promoter; when associated with Y-527.
up seq anno comments: CRC
up seq anno comments: Critical for interaction with target DNA
up seq anno comments: DNA-binding
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: Interaction with DNA
up seq anno comments: Linker
up seq anno comments: Loss of DNA-binding.
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Protein lin-54 homolog
up seq anno feature ids: PRO_0000341389
up seq anno feature ids: VSP_034272
up seq anno feature ids: VSP_034273
up seq anno feature ids: VSP_034274
up seq anno feature ids: VSP_034275
up seq anno feature ids: VSP_034276

9606:PDXP
gene id: 9606:PDXP
uniprot id: A0A024R1I3
uniprot id: Q96GD0
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes protein phosphatase activity.
up seq anno comments: Chronophin
up seq anno comments: Nucleophile
up seq anno comments: Proton donor
up seq anno feature ids: PRO_0000068837

9606:PDPN
gene id: 9606:PDPN
uniprot id: Q86YL7
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Peptide
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Mutagenesis Site
up seq anno labels: Peptide
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: 29kDa cytosolic podoplanin intracellular domain
up seq anno comments: Cleavage; by gamma-secretase
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Does not affect localization at cell surface protrusions. Does not induce reorganization of the actin cytoskeleton. Increases cell migration collectively. Does not significant change RHOA activation. No effect on interaction with CD44. Impairs interaction with the EZR and MSN. Impairs epithelial to mesenchymal transition. Does not change localization at invadopodium. Fails to assemble into rings. Fails invadopodia-mediated ECM degradation.
up seq anno comments: Eliminates induction of platelet aggregation.
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Highly decreases interaction with the EZR and MSN. Induces an intermediate phenotype between epithelial and mesenchymal. Does not affect localization at cell surface protrusions. Induces reorganization of the actin cytoskeleton oncomitantly with the induced morphological changes. Increases cell migration individually. Increases invasiveness. Enhances RHOA activity. Colocalizes at cell-surface protrusions with RHOA and RAC1.
up seq anno comments: Impairs interaction with the EZR and MSN. Impairs epithelial to mesenchymal transition. Does not affect localization at cell surface protrusions. Does not induce reorganization of the actin cytoskeleton. Increases cell migration collectively.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5 and isoform 6.
up seq anno comments: In isoform 5.
up seq anno comments: O-linked (GalNAc...) serine
up seq anno comments: O-linked (GalNAc...) threonine
up seq anno comments: Podoplanin
up seq anno comments: Prevents self-assembly and association to lipid rafts. Reduces the recruitment to invadopodium. Disrupts assembly into adhesion rings. Fails invadopodia-mediated ECM degradation.
up seq anno comments: Requires for dimerization and lipid rafts association
up seq anno comments: Requires for interaction with MSN and EZR
up seq anno feature ids: PRO_0000223875
up seq anno feature ids: PRO_0000442187
up seq anno feature ids: VAR_028015
up seq anno feature ids: VAR_028016
up seq anno feature ids: VSP_035753
up seq anno feature ids: VSP_035754
up seq anno feature ids: VSP_046799
up seq anno feature ids: VSP_046800
up seq anno feature ids: VSP_051949
up seq anno feature ids: VSP_051950
up seq anno feature ids: VSP_051951

9606:THRA
gene id: 9606:THRA
uniprot id: P10827
uniprot id: Q6FH41
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In CHNG6) (Ref.26.
up seq anno comments: In CHNG6, decreases transcriptional activity, decreases T3 binding) (Ref.25.
up seq anno comments: In CHNG6, reduces T3 binding, impairs thyroid hormone-dependent transcriptional activation, no effect on DNA-binding) (Ref.24.
up seq anno comments: In CHNG6; atypical phenotype; weak reduction in transcriptional activation.
up seq anno comments: In CHNG6; no effect on T3 binding; no effect on thyroid hormone-dependent transcriptional activation.
up seq anno comments: In isoform Alpha-1.
up seq anno comments: In isoform Alpha-3.
up seq anno comments: In isoform Alpha-4.
up seq anno comments: Modulating
up seq anno comments: NR C4-type
up seq anno comments: NR LBD
up seq anno comments: No effect on thyroid hormone binding.
up seq anno comments: Nuclear receptor
up seq anno comments: Thyroid hormone receptor alpha
up seq anno feature ids: PRO_0000053424
up seq anno feature ids: VAR_074559
up seq anno feature ids: VAR_074560
up seq anno feature ids: VAR_082873
up seq anno feature ids: VAR_082874
up seq anno feature ids: VAR_082875
up seq anno feature ids: VAR_082876
up seq anno feature ids: VSP_003621
up seq anno feature ids: VSP_003622
up seq anno feature ids: VSP_003623

9606:RNF19A
gene id: 9606:RNF19A
uniprot id: Q9NV58
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno parent labels: Zinc Finger
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno labels: Zinc Finger
up seq anno comments: Abolishes interaction with VCP and E3 ligase activity toward mutant SOD1; when associated with S-132.
up seq anno comments: Abolishes interaction with VCP and E3 ligase activity toward mutant SOD1; when associated with S-135.
up seq anno comments: Disordered
up seq anno comments: E3 ubiquitin-protein ligase RNF19A
up seq anno comments: Helical
up seq anno comments: IBR-type
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Interaction with CASR
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: RING-type 1
up seq anno comments: RING-type 2; atypical
up seq anno comments: TRIAD supradomain
up seq anno feature ids: PRO_0000056061
up seq anno feature ids: VAR_028045
up seq anno feature ids: VSP_021010
up seq anno feature ids: VSP_021011
up seq anno feature ids: VSP_028631

9606:AXL
gene id: 9606:AXL
uniprot id: M0R0W6
uniprot id: P30530
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Catalytically inactive mutant.
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Fibronectin type-III
up seq anno comments: Fibronectin type-III 1
up seq anno comments: Fibronectin type-III 2
up seq anno comments: Helical
up seq anno comments: Ig-like C2-type 1
up seq anno comments: Ig-like C2-type 2
up seq anno comments: In a gastric adenocarcinoma sample; somatic mutation.
up seq anno comments: In a lung neuroendocrine carcinoma sample; somatic mutation.
up seq anno comments: In isoform Short.
up seq anno comments: Interaction with GAS6
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine; by autocatalysis
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Reduced affinity for GAS6.
up seq anno comments: Slightly reduced affinity for GAS6.
up seq anno comments: Tyrosine-protein kinase receptor UFO
up seq anno feature ids: PRO_0000024481
up seq anno feature ids: VAR_041877
up seq anno feature ids: VAR_041878
up seq anno feature ids: VAR_045596
up seq anno feature ids: VAR_045597
up seq anno feature ids: VAR_057990
up seq anno feature ids: VSP_005017

9606:METAP1
gene id: 9606:METAP1
uniprot id: P53582
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: C6H2-type
up seq anno comments: Methionine aminopeptidase 1
up seq anno comments: N-acetylalanine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000148967

9606:GRAP
gene id: 9606:GRAP
uniprot id: I3L2P9
uniprot id: Q13588
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: GRB2-related adapter protein
up seq anno comments: In DFNB114.
up seq anno comments: Polar residues
up seq anno comments: SH2
up seq anno comments: SH3
up seq anno comments: SH3 1
up seq anno comments: SH3 2
up seq anno feature ids: PRO_0000088206
up seq anno feature ids: VAR_082111

9606:TTC19
gene id: 9606:TTC19
uniprot id: Q6DKK2
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Transit Peptide
up seq anno labels: Chain
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Site
up seq anno labels: Transit Peptide
up seq anno comments: Cleavage; by PARL
up seq anno comments: Mitochondrion
up seq anno comments: TPR 1
up seq anno comments: TPR 2
up seq anno comments: TPR 3
up seq anno comments: TPR 4
up seq anno comments: TPR 5
up seq anno comments: Tetratricopeptide repeat protein 19, mitochondrial
up seq anno feature ids: PRO_0000106407

9606:ANO9
gene id: 9606:ANO9
uniprot id: A1A5B4
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Anoctamin-9
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000289329
up seq anno feature ids: VAR_032617
up seq anno feature ids: VAR_032618
up seq anno feature ids: VAR_054621
up seq anno feature ids: VSP_036489
up seq anno feature ids: VSP_036490
up seq anno feature ids: VSP_036491
up seq anno feature ids: VSP_036492

9606:SIDT2
gene id: 9606:SIDT2
uniprot id: Q8NBJ9
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: SID1 transmembrane family member 2
up seq anno feature ids: PRO_0000032578
up seq anno feature ids: VAR_034493
up seq anno feature ids: VAR_034494
up seq anno feature ids: VSP_013523
up seq anno feature ids: VSP_013524

9606:CFAP107
gene id: 9606:CFAP107
uniprot id: Q8N1D5
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno comments: Cilia- and flagella-associated protein 107
up seq anno feature ids: PRO_0000247260

9606:ZNF792
gene id: 9606:ZNF792
uniprot id: Q3KQV3
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 12
up seq anno comments: C2H2-type 13
up seq anno comments: C2H2-type 2; degenerate
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: KRAB
up seq anno comments: Phosphoserine
up seq anno comments: Zinc finger protein 792
up seq anno feature ids: PRO_0000293698
up seq anno feature ids: VAR_033106
up seq anno feature ids: VAR_047354

9606:STRADB
gene id: 9606:STRADB
uniprot id: Q9C0K7
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: In a metastatic melanoma sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Protein kinase
up seq anno comments: STE20-related kinase adapter protein beta
up seq anno feature ids: PRO_0000085617
up seq anno feature ids: VAR_041335
up seq anno feature ids: VAR_041336
up seq anno feature ids: VSP_016623
up seq anno feature ids: VSP_016624
up seq anno feature ids: VSP_016625

9606:CYCS
gene id: 9606:CYCS
uniprot id: P99999
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Cytochrome c
up seq anno comments: Decreased covalent heme attachment.
up seq anno comments: In THC4; increases the pro-apoptotic function by triggering caspase activation more efficiently than wild-type; does not affect the redox function.
up seq anno comments: Loss of covalent heme attachment.
up seq anno comments: N-acetylglycine
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-succinyllysine
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: No effect on covalent heme attachment.
up seq anno comments: Phosphotyrosine
up seq anno comments: Removed
up seq anno comments: axial binding residue
up seq anno comments: covalent
up seq anno feature ids: PRO_0000108218
up seq anno feature ids: VAR_002204
up seq anno feature ids: VAR_044450
up seq anno feature ids: VAR_048850

9606:CREG1
gene id: 9606:CREG1
uniprot id: O75629
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Protein CREG1
up seq anno feature ids: PRO_0000006203

9606:SCIMP
gene id: 9606:SCIMP
uniprot id: Q6UWF3
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 2.
up seq anno comments: Inhibits interaction with BLNK. Inhibits activation of several downstream signaling pathways.
up seq anno comments: Inhibits interaction with CSK. Stimulates activation of several downstream signaling pathways.
up seq anno comments: Inhibits interaction with GRB2.
up seq anno comments: Inhibits interaction with LYN.
up seq anno comments: Interaction with TLR4
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: Proline-rich region necessary for constitutive interaction with LYN
up seq anno comments: S-palmitoyl cysteine
up seq anno comments: SLP adapter and CSK-interacting membrane protein
up seq anno feature ids: PRO_0000295237
up seq anno feature ids: VSP_026853
up seq anno feature ids: VSP_026854
up seq anno feature ids: VSP_026855

9606:EBAG9
gene id: 9606:EBAG9
uniprot id: O00559
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical; Signal-anchor for type III membrane protein
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Receptor-binding cancer antigen expressed on SiSo cells
up seq anno feature ids: PRO_0000097195
up seq anno feature ids: VSP_055503

9606:GSTM3
gene id: 9606:GSTM3
uniprot id: P21266
uniprot id: Q6FGJ9
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno comments: GST C-terminal
up seq anno comments: GST N-terminal
up seq anno comments: Glutathione S-transferase Mu 3
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: No effect.
up seq anno comments: Strongly increased catalytic activity.
up seq anno feature ids: PRO_0000185822
up seq anno feature ids: VAR_014498

9606:SLC35B4
gene id: 9606:SLC35B4
uniprot id: Q969S0
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Mediates endoplasmic reticulum retention
up seq anno comments: Nucleotide sugar transporter SLC35B4
up seq anno comments: Results in loss of ER retention signal and relocalization at the Golgi apparatus.
up seq anno feature ids: PRO_0000213385
up seq anno feature ids: VSP_016197
up seq anno feature ids: VSP_016198
up seq anno feature ids: VSP_016199
up seq anno feature ids: VSP_016200

9606:ZNF324B
gene id: 9606:ZNF324B
uniprot id: Q6AW86
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 324B
up seq anno feature ids: PRO_0000280405
up seq anno feature ids: VAR_052811
up seq anno feature ids: VSP_023658

9606:XPNPEP1
gene id: 9606:XPNPEP1
uniprot id: Q5T6H7
uniprot id: Q9NQW7
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Creatinase N-terminal
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: Interferes with dimerization and reduces activity by 94%.
up seq anno comments: N6-acetyllysine
up seq anno comments: Peptidase M24
up seq anno comments: Peptidase M24 C-terminal
up seq anno comments: Reduces activity by 10%.
up seq anno comments: Removed
up seq anno comments: Xaa-Pro aminopeptidase 1
up seq anno feature ids: PRO_0000185083
up seq anno feature ids: VSP_045250
up seq anno feature ids: VSP_051752

9606:PRSS54
gene id: 9606:PRSS54
uniprot id: A0A140VKC3
uniprot id: F5H6C6
uniprot id: Q6PEW0
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Inactive serine protease 54
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Peptidase S1
up seq anno feature ids: PRO_0000288801
up seq anno feature ids: PRO_5007491757
up seq anno feature ids: VAR_032497
up seq anno feature ids: VAR_032498
up seq anno feature ids: VAR_032499

9606:RBBP5
gene id: 9606:RBBP5
uniprot id: B4DLF8
uniprot id: Q15291
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with ASH2L
up seq anno comments: Interaction with WDR5
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CDK1
up seq anno comments: Phosphothreonine; by CDK1
up seq anno comments: Polar residues
up seq anno comments: Reduced ability to stimulate KMT2A methyltransferase activity in association with WDR5 and ASH2L.
up seq anno comments: Retinoblastoma-binding protein 5
up seq anno comments: Significant reduction in its ability to stimulate KMT2A methyltransferase activity in association with WDR5 and ASH2L.
up seq anno comments: WD 1
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno feature ids: PRO_0000051194
up seq anno feature ids: VSP_035583

9606:ZSWIM6
gene id: 9606:ZSWIM6
uniprot id: Q9HCJ5
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: Disordered
up seq anno comments: In AFND.
up seq anno comments: In NEDMAGA.
up seq anno comments: SWIM-type
up seq anno comments: Zinc finger SWIM domain-containing protein 6
up seq anno feature ids: PRO_0000223105
up seq anno feature ids: VAR_071802
up seq anno feature ids: VAR_076431
up seq anno feature ids: VAR_080756

9606:DGAT2L6
gene id: 9606:DGAT2L6
uniprot id: Q6ZPD8
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Transmembrane
up seq anno comments: Diacylglycerol O-acyltransferase 2-like protein 6
up seq anno comments: Helical
up seq anno feature ids: PRO_0000249054

9606:FGF4
gene id: 9606:FGF4
uniprot id: A0A7U3JW12
uniprot id: P08620
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Fibroblast growth factor
up seq anno comments: Fibroblast growth factor 4
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000008953
up seq anno feature ids: PRO_5034192521
up seq anno feature ids: VSP_053541

9606:CES3
gene id: 9606:CES3
uniprot id: A0A0C4DFY7
uniprot id: Q6UWW8
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Motif
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Acyl-ester intermediate
up seq anno comments: Carboxylesterase 3
up seq anno comments: Carboxylesterase type B
up seq anno comments: Carboxylic ester hydrolase
up seq anno comments: Charge relay system
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Prevents secretion from ER
up seq anno feature ids: PRO_0000305191
up seq anno feature ids: PRO_5014203187
up seq anno feature ids: VAR_060699
up seq anno feature ids: VAR_060700
up seq anno feature ids: VAR_060701
up seq anno feature ids: VAR_060702
up seq anno feature ids: VAR_060703
up seq anno feature ids: VAR_060704
up seq anno feature ids: VAR_060705
up seq anno feature ids: VAR_060706
up seq anno feature ids: VSP_044994

9606:MTFR1
gene id: 9606:MTFR1
uniprot id: B4E3G8
uniprot id: Q15390
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transit Peptide
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Transit Peptide
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Mitochondrial fission regulator 1
up seq anno comments: Mitochondrion
up seq anno comments: Necessary and sufficient to promote mitochondrial fission
up seq anno comments: Phosphoserine
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000096622
up seq anno feature ids: VSP_046765

9606:SPATA25
gene id: 9606:SPATA25
uniprot id: Q9BR10
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: Spermatogenesis-associated protein 25
up seq anno feature ids: PRO_0000079478
up seq anno feature ids: VAR_015146

9606:TTC13
gene id: 9606:TTC13
uniprot id: A0A384NPL4
uniprot id: Q8NBP0
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: TPR
up seq anno comments: TPR 1
up seq anno comments: TPR 2
up seq anno comments: TPR 3
up seq anno comments: TPR 4
up seq anno comments: TPR 5
up seq anno comments: TPR 6
up seq anno comments: TPR 7
up seq anno comments: Tetratricopeptide repeat protein 13
up seq anno feature ids: PRO_0000106398
up seq anno feature ids: VSP_011644
up seq anno feature ids: VSP_035660

9606:HEATR5A
gene id: 9606:HEATR5A
uniprot id: F5H619
uniprot id: Q86XA9
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: HEAT 1
up seq anno comments: HEAT 2
up seq anno comments: HEAT repeat-containing protein 5A
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000311990
up seq anno feature ids: VSP_029685
up seq anno feature ids: VSP_029686

9606:ZXDA
gene id: 9606:ZXDA
uniprot id: P98168
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: Disordered
up seq anno comments: Required for interaction with ZXDC
up seq anno comments: Required for transcriptional activation
up seq anno comments: Zinc finger X-linked protein ZXDA
up seq anno feature ids: PRO_0000047776
up seq anno feature ids: VAR_033002
up seq anno feature ids: VAR_076439

9606:CCNB1
gene id: 9606:CCNB1
uniprot id: P14635
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: Does not affect phosphorylation by PLK1.
up seq anno comments: G2/mitotic-specific cyclin-B1
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with CDK2
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CDK1
up seq anno comments: Phosphoserine; by PLK1
up seq anno comments: Phosphothreonine
up seq anno comments: Strongly impairs phosphorylation by PLK1.
up seq anno feature ids: PRO_0000080350
up seq anno feature ids: VSP_053892

9606:TEF
gene id: 9606:TEF
uniprot id: Q10587
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic motif
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Leucine-zipper
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Thyrotroph embryonic factor
up seq anno comments: bZIP
up seq anno feature ids: PRO_0000076512
up seq anno feature ids: VSP_041376

9606:EVA1B
gene id: 9606:EVA1B
uniprot id: Q9NVM1
up seq anno parent labels: Chain
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: Phosphothreonine
up seq anno comments: Protein eva-1 homolog B
up seq anno feature ids: PRO_0000271112

9606:NOL12
gene id: 9606:NOL12
uniprot id: Q9UGY1
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Disordered
up seq anno comments: Nucleolar protein 12
up seq anno feature ids: PRO_0000271207

9606:MARS1
gene id: 9606:MARS1
uniprot id: P56192
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 'HIGH' region
up seq anno comments: 'KMSKS' region
up seq anno comments: Found in a patient with spastic paraplegia; unknown pathological significance.
up seq anno comments: GST C-terminal
up seq anno comments: In CMT2U.
up seq anno comments: In CMT2U; loss of function mutation.
up seq anno comments: In ILLD.
up seq anno comments: In ILLD; may act as a disease modifier aggravating the phenotype; found in patients that carried additional mutations C-344 and/or L-567; when assayed in yeast, does not exhibit any phenotype; when assayed in yeast in association with L-567, increases L-567-induced growth retardation and reduction in methionine incorporation.
up seq anno comments: In ILLD; when assayed in yeast, induces a slight growth retardation and reduction in methionine incorporation; may interfere with efficient substrate binding.
up seq anno comments: In ILLD; when assayed in yeast, reduces methionine incorporation; when assayed in yeast in association with T-393, induces growth retardation and strong reduction in methionine incorporation; may interfere with efficient substrate binding.
up seq anno comments: In TTD9; unknown pathological significance; homozygous patient cells show decreased methionyl-tRNA aminoacylation; decreased protein abundance in homozygous patient cells.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of interaction with EEF1E1.
up seq anno comments: Methionine--tRNA ligase, cytoplasmic
up seq anno comments: No effect on enzyme activity.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Slightly decreased enzyme activity.
up seq anno comments: Strongly decreased affinity for tRNA.
up seq anno comments: WHEP-TRS
up seq anno feature ids: PRO_0000139262
up seq anno feature ids: VAR_020459
up seq anno feature ids: VAR_070872
up seq anno feature ids: VAR_070873
up seq anno feature ids: VAR_073377
up seq anno feature ids: VAR_073378
up seq anno feature ids: VAR_075360
up seq anno feature ids: VAR_075361
up seq anno feature ids: VAR_075362
up seq anno feature ids: VAR_075363
up seq anno feature ids: VAR_075364
up seq anno feature ids: VAR_075365
up seq anno feature ids: VAR_077848
up seq anno feature ids: VAR_077849
up seq anno feature ids: VAR_086779
up seq anno feature ids: VSP_056563
up seq anno feature ids: VSP_056564

9606:GOLGA8O
gene id: 9606:GOLGA8O
uniprot id: A6NCC3
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Golgin subfamily A member 8O
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000342409
up seq anno feature ids: VSP_044760
up seq anno feature ids: VSP_044761
up seq anno feature ids: VSP_044762

9606:TRIM68
gene id: 9606:TRIM68
uniprot id: Q6AZZ1
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: B box-type
up seq anno comments: B30.2/SPRY
up seq anno comments: E3 ubiquitin-protein ligase TRIM68
up seq anno comments: In isoform 2.
up seq anno comments: RING-type
up seq anno feature ids: PRO_0000249437
up seq anno feature ids: VAR_027415
up seq anno feature ids: VAR_063007
up seq anno feature ids: VAR_063008
up seq anno feature ids: VSP_055444
up seq anno feature ids: VSP_055445

9606:ARL4D
gene id: 9606:ARL4D
uniprot id: P49703
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Initiator Methionine
up seq anno labels: Lipid Binding
up seq anno labels: Sequence Variant
up seq anno comments: ADP-ribosylation factor-like protein 4D
up seq anno comments: N-myristoyl glycine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000207464
up seq anno feature ids: VAR_028205

9606:MAP3K19
gene id: 9606:MAP3K19
uniprot id: Q56UN5
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In a breast pleomorphic lobular carcinoma sample; somatic mutation.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4 and isoform 5.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 7.
up seq anno comments: Mitogen-activated protein kinase kinase kinase 19
up seq anno comments: Polar residues
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000232640
up seq anno feature ids: VAR_041334
up seq anno feature ids: VAR_051687
up seq anno feature ids: VAR_051688
up seq anno feature ids: VAR_051689
up seq anno feature ids: VSP_017924
up seq anno feature ids: VSP_017925
up seq anno feature ids: VSP_017926
up seq anno feature ids: VSP_055367

9606:SGCZ
gene id: 9606:SGCZ
uniprot id: Q08AT0
uniprot id: Q96LD1
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Zeta-sarcoglycan
up seq anno feature ids: PRO_0000175251
up seq anno feature ids: VSP_037410

9606:HYPK
gene id: 9606:HYPK
uniprot id: Q9NX55
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Turn
up seq anno comments: Abolishes interaction with NAA10 and NAA15.
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Huntingtin-interacting protein K
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno comments: Reduces ability to inhibit NAA10-NAA15 complex-mediated N-terminal acetylation, which results in increased N-terminal acetylation.
up seq anno comments: Reduces ability to inhibit NAA10-NAA15 complex-mediated N-terminal acetylation, which results in increased N-terminal acetylation; when associated with A-35.
up seq anno comments: Reduces ability to inhibit NAA10-NAA15 complex-mediated N-terminal acetylation, which results in increased N-terminal acetylation; when associated with A-38.
up seq anno comments: Required for association with the NAA10-NAA15 complex
up seq anno feature ids: PRO_0000274605
up seq anno feature ids: VAR_030335
up seq anno feature ids: VSP_040677
up seq anno feature ids: VSP_040678

9606:DSP
gene id: 9606:DSP
uniprot id: B4DKX6
uniprot id: P15924
uniprot id: Q4LE79
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 4.5 X 38 AA tandem repeats (Domain A)
up seq anno comments: 4.5 X 38 AA tandem repeats (Domain B)
up seq anno comments: 4.5 X 38 AA tandem repeats (Domain C)
up seq anno comments: 6 X 4 AA tandem repeats of G-S-R-[SR]
up seq anno comments: Central fibrous rod domain
up seq anno comments: Desmoplakin
up seq anno comments: Disordered
up seq anno comments: Globular 1
up seq anno comments: Globular 2
up seq anno comments: In ARVD8.
up seq anno comments: In ARVD8; unknown pathological significance.
up seq anno comments: In DCWHKTA.
up seq anno comments: In SFWHS.
up seq anno comments: In a case of recessive arrhythmogenic right ventricular cardiomyopathy with skin abnormalities and woolly hair.
up seq anno comments: In isoform DPII.
up seq anno comments: In isoform DSPIa.
up seq anno comments: Interaction with PKP1, JUP, PKP2
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Plectin 1
up seq anno comments: Plectin 10
up seq anno comments: Plectin 11
up seq anno comments: Plectin 12
up seq anno comments: Plectin 13
up seq anno comments: Plectin 14
up seq anno comments: Plectin 15
up seq anno comments: Plectin 16
up seq anno comments: Plectin 17
up seq anno comments: Plectin 2
up seq anno comments: Plectin 3
up seq anno comments: Plectin 4
up seq anno comments: Plectin 5
up seq anno comments: Plectin 6
up seq anno comments: Plectin 7
up seq anno comments: Plectin 8
up seq anno comments: Plectin 9
up seq anno comments: Polar residues
up seq anno comments: SH3
up seq anno comments: Spectrin 1
up seq anno comments: Spectrin 2
up seq anno comments: Spectrin 3a

9606:GCG
gene id: 9606:GCG
uniprot id: P01275
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Peptide
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Peptide
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno comments: Arginine amide
up seq anno comments: Cleavage; by PCSK1
up seq anno comments: Cleavage; by PCSK1 and PCSK2
up seq anno comments: Cleavage; by PCSK2
up seq anno comments: Disordered
up seq anno comments: Glicentin
up seq anno comments: Glicentin-related polypeptide
up seq anno comments: Glucagon
up seq anno comments: Glucagon-like peptide 1
up seq anno comments: Glucagon-like peptide 1(7-36)
up seq anno comments: Glucagon-like peptide 1(7-37)
up seq anno comments: Glucagon-like peptide 2
up seq anno comments: Oxyntomodulin
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000011253
up seq anno feature ids: PRO_0000011254
up seq anno feature ids: PRO_0000011255
up seq anno feature ids: PRO_0000011256
up seq anno feature ids: PRO_0000011257
up seq anno feature ids: PRO_0000011258
up seq anno feature ids: PRO_0000011259
up seq anno feature ids: PRO_0000011260
up seq anno feature ids: PRO_0000011261
up seq anno feature ids: PRO_0000011262
up seq anno feature ids: VAR_014596

9606:SOX5
gene id: 9606:SOX5
uniprot id: F5H0I3
uniprot id: P35711
uniprot id: T2CYZ2
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: HMG box
up seq anno comments: In a patient with amyotrophic lateral sclerosis.
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Transcription factor SOX-5
up seq anno feature ids: PRO_0000048726
up seq anno feature ids: VAR_065754
up seq anno feature ids: VSP_007261
up seq anno feature ids: VSP_007262
up seq anno feature ids: VSP_007263
up seq anno feature ids: VSP_007264
up seq anno feature ids: VSP_045997

9606:ATF2
gene id: 9606:ATF2
uniprot id: A4D7V5
uniprot id: P15336
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: BZIP
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic motif
up seq anno comments: C2H2-type
up seq anno comments: Cyclic AMP-dependent transcription factor ATF-2
up seq anno comments: Disordered
up seq anno comments: Essential for its histone acetyltransferase activity
up seq anno comments: Impairs phosphorylation by PLK3. Weak histone acetyltransferase activity.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5, isoform 6 and isoform 7.
up seq anno comments: In isoform 6 and isoform 8.
up seq anno comments: In isoform 7.
up seq anno comments: Leucine-zipper
up seq anno comments: N6-acetyllysine
up seq anno comments: Nuclear export signal 1 (N-NES)
up seq anno comments: Nuclear export signal 2 (C-NES)
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by ATM
up seq anno comments: Phosphoserine; by PKC/PRKCA and PKC/PRKCB
up seq anno comments: Phosphoserine; by VRK1
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by MAPK1, MAPK3, MAPK11, MAPK12, MAPK14 and PLK3
up seq anno comments: Phosphothreonine; by MAPK11 and MAPK14
up seq anno comments: Phosphothreonine; by PKC/PRKCH
up seq anno comments: Phosphothreonine; by VRK1
up seq anno comments: Polar residues
up seq anno comments: Reduced phosphorylation and repression of c-Jun-mediated activation of transcription.
up seq anno comments: Weak histone acetyltransferase activity.
up seq anno comments: bZIP
up seq anno feature ids: PRO_0000076577
up seq anno feature ids: VAR_035999
up seq anno feature ids: VSP_000587
up seq anno feature ids: VSP_000588
up seq anno feature ids: VSP_045161
up seq anno feature ids: VSP_046959
up seq anno feature ids: VSP_046960
up seq anno feature ids: VSP_047593
up seq anno feature ids: VSP_047594
up seq anno feature ids: VSP_047595

9606:KNOP1
gene id: 9606:KNOP1
uniprot id: Q1ED39
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: Interaction with ZNF106
up seq anno comments: Lysine-rich nucleolar protein 1
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000321938
up seq anno feature ids: VAR_039387
up seq anno feature ids: VAR_061716
up seq anno feature ids: VAR_061717

9606:FARP1
gene id: 9606:FARP1
uniprot id: A0A2X0TVY0
uniprot id: C9JME2
uniprot id: Q9Y4F1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: DH
up seq anno comments: Disordered
up seq anno comments: FERM
up seq anno comments: FERM, ARHGEF and pleckstrin domain-containing protein 1
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: PH
up seq anno comments: PH 1
up seq anno comments: PH 2
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000232753
up seq anno feature ids: VAR_035851
up seq anno feature ids: VAR_048362
up seq anno feature ids: VSP_017976
up seq anno feature ids: VSP_040989
up seq anno feature ids: VSP_040990

9606:POSTN
gene id: 9606:POSTN
uniprot id: B1ALD9
uniprot id: Q15063
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: EMI
up seq anno comments: FAS1
up seq anno comments: FAS1 1
up seq anno comments: FAS1 2
up seq anno comments: FAS1 3
up seq anno comments: FAS1 4
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 3 and isoform 5.
up seq anno comments: In isoform 3, isoform 4 and isoform 7.
up seq anno comments: In isoform 6 and isoform 7.
up seq anno comments: Loss of homodimerization.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No effect on homodimerization.
up seq anno comments: Periostin
up seq anno comments: S-cysteinyl cysteine
up seq anno feature ids: PRO_0000008789
up seq anno feature ids: PRO_5002761412
up seq anno feature ids: VAR_049115
up seq anno feature ids: VAR_049116
up seq anno feature ids: VSP_050005
up seq anno feature ids: VSP_050669
up seq anno feature ids: VSP_050670
up seq anno feature ids: VSP_055183

9606:ZC3H4
gene id: 9606:ZC3H4
uniprot id: Q9UPT8
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Acidic residues
up seq anno comments: Asymmetric dimethylarginine
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: C3H1-type 1
up seq anno comments: C3H1-type 2
up seq anno comments: C3H1-type 3
up seq anno comments: Disordered
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Zinc finger CCCH domain-containing protein 4
up seq anno feature ids: PRO_0000234068
up seq anno feature ids: VAR_052964
up seq anno feature ids: VAR_052965
up seq anno feature ids: VAR_052966

9606:RBM39
gene id: 9606:RBM39
uniprot id: A0A384NQ03
uniprot id: B4DRA0
uniprot id: Q14498
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Activating domain
up seq anno comments: Associated with resistance to anticancer indisulam.
up seq anno comments: Associated with resistance to anticancer indisulam; abolished degradation by the DCX(DCAF15) complex in presence of indisulam.
up seq anno comments: Associated with resistance to anticancer indisulam; decreased interaction with the DCX(DCAF15) complex in presence of indisulam; abolished degradation by the DCX(DCAF15) complex in presence of indisulam.
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Interaction with ESR1 and ESR2
up seq anno comments: Interaction with JUN
up seq anno comments: Interaction with NCOA6
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: RNA-binding protein 39
up seq anno comments: RRM
up seq anno comments: RRM 1
up seq anno comments: RRM 2
up seq anno comments: RRM 3
up seq anno comments: Removed
up seq anno feature ids: PRO_0000081814
up seq anno feature ids: VAR_015228
up seq anno feature ids: VAR_083212
up seq anno feature ids: VAR_083213
up seq anno feature ids: VAR_083214
up seq anno feature ids: VAR_083215
up seq anno feature ids: VAR_083216
up seq anno feature ids: VAR_083217
up seq anno feature ids: VAR_083218
up seq anno feature ids: VAR_083219
up seq anno feature ids: VSP_005820
up seq anno feature ids: VSP_043375

9606:ZRANB2
gene id: 9606:ZRANB2
uniprot id: O95218
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: RanBP2-type 1
up seq anno comments: RanBP2-type 2
up seq anno comments: Required for nuclear targeting
up seq anno comments: Zinc finger Ran-binding domain-containing protein 2
up seq anno feature ids: PRO_0000066585
up seq anno feature ids: VAR_030783
up seq anno feature ids: VSP_024945

9606:UBE2N
gene id: 9606:UBE2N
uniprot id: P61088
uniprot id: V9HW41
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ISG15)
up seq anno comments: Glycyl thioester intermediate
up seq anno comments: Interchain (with C-78 in ISG15)
up seq anno comments: Loss of polyubiquitination of PCNA. Impairs interaction with SHPRH.
up seq anno comments: N6-acetyllysine
up seq anno comments: No ISGylation.
up seq anno comments: No effect on ISGylation.
up seq anno comments: UBC core
up seq anno comments: Ubiquitin-conjugating enzyme E2 N
up seq anno feature ids: PRO_0000082502

9606:TMEM53
gene id: 9606:TMEM53
uniprot id: Q5TDE2
uniprot id: Q6P2H8
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Transmembrane protein 53
up seq anno feature ids: PRO_0000284118
up seq anno feature ids: VSP_024446

9606:NKX2-2
gene id: 9606:NKX2-2
uniprot id: O95096
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Region
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Homeobox
up seq anno comments: Homeobox protein Nkx-2.2
up seq anno feature ids: PRO_0000048929

9606:CORO2B
gene id: 9606:CORO2B
uniprot id: Q9UQ03
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Coronin-2B
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: WD 1
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno comments: WD 7
up seq anno feature ids: PRO_0000050930
up seq anno feature ids: VAR_035878
up seq anno feature ids: VAR_058323
up seq anno feature ids: VSP_037706

9606:INTS15
gene id: 9606:INTS15
uniprot id: Q96N11
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: Integrator complex subunit 15
up seq anno feature ids: PRO_0000089582
up seq anno feature ids: VAR_061593
up seq anno feature ids: VSP_007907
up seq anno feature ids: VSP_007908

9606:MIEF2
gene id: 9606:MIEF2
uniprot id: Q96C03
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In COXPD49; patient cells have reduced MIEF2 protein levels and show elongated mitochondria and increased mitochondrial fusion events.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Mitochondrial dynamics protein MID49
up seq anno comments: Mitochondrial intermembrane
up seq anno comments: Phosphoserine
up seq anno comments: Unable to associate with DNM1L into filaments forming the tubular structures that wrap around the scission site.
up seq anno feature ids: PRO_0000310445
up seq anno feature ids: VAR_037038
up seq anno feature ids: VAR_037039
up seq anno feature ids: VAR_081553
up seq anno feature ids: VSP_029358
up seq anno feature ids: VSP_029359
up seq anno feature ids: VSP_047650

9606:CRYBG1
gene id: 9606:CRYBG1
uniprot id: B3KPT0
uniprot id: Q9Y4K1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Beta/gamma crystallin 'Greek key' 1
up seq anno comments: Beta/gamma crystallin 'Greek key' 10
up seq anno comments: Beta/gamma crystallin 'Greek key' 11
up seq anno comments: Beta/gamma crystallin 'Greek key' 12
up seq anno comments: Beta/gamma crystallin 'Greek key' 2
up seq anno comments: Beta/gamma crystallin 'Greek key' 3
up seq anno comments: Beta/gamma crystallin 'Greek key' 4
up seq anno comments: Beta/gamma crystallin 'Greek key' 5
up seq anno comments: Beta/gamma crystallin 'Greek key' 6
up seq anno comments: Beta/gamma crystallin 'Greek key' 7
up seq anno comments: Beta/gamma crystallin 'Greek key' 8
up seq anno comments: Beta/gamma crystallin 'Greek key' 9
up seq anno comments: Beta/gamma crystallin domain-containing protein 1
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Ricin B-type lectin
up seq anno feature ids: PRO_0000057609
up seq anno feature ids: VAR_055687
up seq anno feature ids: VAR_055688
up seq anno feature ids: VAR_055689
up seq anno feature ids: VAR_055690
up seq anno feature ids: VAR_055691
up seq anno feature ids: VAR_055692
up seq anno feature ids: VAR_055693
up seq anno feature ids: VSP_056580
up seq anno feature ids: VSP_056581

9606:NPTX2
gene id: 9606:NPTX2
uniprot id: P47972
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Neuronal pentraxin-2
up seq anno comments: Pentraxin (PTX)
up seq anno feature ids: PRO_0000023551

9606:LRRC59
gene id: 9606:LRRC59
uniprot id: Q96AG4
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: LRR 1
up seq anno comments: LRR 2
up seq anno comments: LRR 3
up seq anno comments: LRR 4
up seq anno comments: LRR 5
up seq anno comments: Leucine-rich repeat-containing protein 59
up seq anno comments: Leucine-rich repeat-containing protein 59, N-terminally processed
up seq anno comments: Lumenal
up seq anno comments: N-acetylmethionine
up seq anno comments: N-acetylthreonine; in Leucine-rich repeat-containing protein 59, N-terminally processed
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-succinyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Removed; alternate
up seq anno feature ids: PRO_0000235159
up seq anno feature ids: PRO_0000441739

9606:STARD13
gene id: 9606:STARD13
uniprot id: B2R789
uniprot id: B3KRK6
uniprot id: Q9Y3M8
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: In isoform 2 and isoform 5.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: Loss of RhoGAP activity.
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Rho-GAP
up seq anno comments: SAM
up seq anno comments: START
up seq anno comments: StAR-related lipid transfer protein 13
up seq anno feature ids: PRO_0000220679
up seq anno feature ids: VAR_022098
up seq anno feature ids: VAR_037494
up seq anno feature ids: VAR_037495
up seq anno feature ids: VAR_037496
up seq anno feature ids: VSP_017353
up seq anno feature ids: VSP_017354
up seq anno feature ids: VSP_017355
up seq anno feature ids: VSP_017356
up seq anno feature ids: VSP_017357

9606:TRNT1
gene id: 9606:TRNT1
uniprot id: Q96Q11
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: Abolished homodimerization and disulfide bond formation.
up seq anno comments: CCA tRNA nucleotidyltransferase 1, mitochondrial
up seq anno comments: Decreased CCA tRNA nucleotidyltransferase activity; abolished homodimerization and disulfide bond formation.
up seq anno comments: In RPEM.
up seq anno comments: In SIFD.
up seq anno comments: In SIFD; decreased CCA tRNA nucleotidyltransferase activity; abolished homodimerization and disulfide bond formation.
up seq anno comments: In SIFD; loss of CCA tRNA nucleotidyltransferase activity.
up seq anno comments: In SIFD; loss of CCA tRNA nucleotidyltransferase activity; decreased stability.
up seq anno comments: In SIFD; reduced CCA tRNA nucleotidyltransferasevactivity; decreased stability.
up seq anno comments: In SIFD; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Interchain
up seq anno comments: Involved in nucleotide selection
up seq anno comments: May assist in discriminating ATP from CTP
up seq anno comments: Mitochondrion
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000004782
up seq anno feature ids: VAR_048698
up seq anno feature ids: VAR_072421
up seq anno feature ids: VAR_072422
up seq anno feature ids: VAR_072423
up seq anno feature ids: VAR_072424
up seq anno feature ids: VAR_072425
up seq anno feature ids: VAR_072426
up seq anno feature ids: VAR_072427
up seq anno feature ids: VAR_076924
up seq anno feature ids: VAR_088001
up seq anno feature ids: VAR_088002
up seq anno feature ids: VAR_088003
up seq anno feature ids: VAR_088004
up seq anno feature ids: VAR_088005
up seq anno feature ids: VAR_088006
up seq anno feature ids: VAR_088007
up seq anno feature ids: VAR_088008
up seq anno feature ids: VAR_088009
up seq anno feature ids: VAR_088010
up seq anno feature ids: VAR_088011
up seq anno feature ids: VAR_088012
up seq anno feature ids: VAR_088013
up seq anno feature ids: VAR_088014
up seq anno feature ids: VAR_088015
up seq anno feature ids: VSP_008440
up seq anno feature ids: VSP_008441
up seq anno feature ids: VSP_008442

9606:AMPD3
gene id: 9606:AMPD3
uniprot id: Q01432
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: AMP deaminase 3
up seq anno comments: Disordered
up seq anno comments: In AMPDDE.
up seq anno comments: In AMPDDE; enzyme inactive.
up seq anno comments: In isoform 1A and isoform 2.
up seq anno comments: In isoform 1A.
up seq anno comments: In isoform 1C and isoform 3.
up seq anno comments: In isoform 1C.
up seq anno comments: In isoform 4.
up seq anno comments: Phosphoserine
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000194410
up seq anno feature ids: VAR_009881
up seq anno feature ids: VAR_033499
up seq anno feature ids: VAR_042606
up seq anno feature ids: VAR_042607
up seq anno feature ids: VAR_042608
up seq anno feature ids: VAR_042609
up seq anno feature ids: VAR_042610
up seq anno feature ids: VAR_042611
up seq anno feature ids: VAR_042612
up seq anno feature ids: VAR_042613
up seq anno feature ids: VAR_042614
up seq anno feature ids: VAR_042615
up seq anno feature ids: VSP_001275
up seq anno feature ids: VSP_001276
up seq anno feature ids: VSP_001277
up seq anno feature ids: VSP_001278
up seq anno feature ids: VSP_044230

9606:LMO4
gene id: 9606:LMO4
uniprot id: P61968
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno comments: LIM domain transcription factor LMO4
up seq anno comments: LIM zinc-binding 1
up seq anno comments: LIM zinc-binding 2
up seq anno feature ids: PRO_0000075820

9606:LIPC
gene id: 9606:LIPC
uniprot id: A6H8L5
uniprot id: P11150
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Charge relay system
up seq anno comments: Essential for determining substrate specificity
up seq anno comments: Hepatic triacylglycerol lipase
up seq anno comments: In HL deficiency.
up seq anno comments: Increased triglyceride hydrolase and reduced phospholipase activity.
up seq anno comments: Loss of triglyceride hydrolase and phospholipase activity.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Nucleophile
up seq anno comments: PLAT
up seq anno feature ids: PRO_0000017769
up seq anno feature ids: PRO_5002698104
up seq anno feature ids: VAR_004206
up seq anno feature ids: VAR_004207
up seq anno feature ids: VAR_004208
up seq anno feature ids: VAR_004209
up seq anno feature ids: VAR_004210
up seq anno feature ids: VAR_014179
up seq anno feature ids: VAR_017024
up seq anno feature ids: VAR_017025
up seq anno feature ids: VAR_017026

9606:BNC1
gene id: 9606:BNC1
uniprot id: B7Z885
uniprot id: F5GY04
uniprot id: Q01954
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: Disordered
up seq anno comments: Hydrophobic
up seq anno comments: In POF16; unknown pathological significance; affects nuclear localization; the mutant exhibits a punctate localization in the nucleus.
up seq anno comments: No effect on phosphorylation, no effect on subcellular location.
up seq anno comments: No effect on phosphorylation. Abolishes phosphorylation and induces nuclear restriction; when associated with A-541.
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Reduces phosphorylation and induces partial relocation into the cytoplasm.
up seq anno comments: Strongly reduces phosphorylation and induces partial relocation into the cytoplasm.
up seq anno comments: Strongly reduces phosphorylation. Abolishes phosphorylation and induces nuclear restriction; when associated with A-537.
up seq anno comments: Zinc finger protein basonuclin-1
up seq anno feature ids: PRO_0000046932
up seq anno feature ids: PRO_5002866266
up seq anno feature ids: PRO_5003322980
up seq anno feature ids: VAR_083487

9606:FRMD4A
gene id: 9606:FRMD4A
uniprot id: Q9NW91
uniprot id: Q9P2Q2
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: FERM
up seq anno comments: FERM domain-containing protein 4A
up seq anno comments: Necessary for interaction with CYTH1
up seq anno comments: Necessary for tight junction and adherens junction localization; Requires for interaction with PARD3
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000219444
up seq anno feature ids: VAR_048367

9606:TMED8
gene id: 9606:TMED8
uniprot id: Q6PL24
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Acidic residues
up seq anno comments: Disordered
up seq anno comments: GOLD
up seq anno comments: N6-acetyllysine
up seq anno comments: Protein TMED8
up seq anno feature ids: PRO_0000055638
up seq anno feature ids: VAR_049112

9606:INSM1
gene id: 9606:INSM1
uniprot id: Q01101
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Strand
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Strand
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type 1; atypical
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: Disordered
up seq anno comments: Inhibits weakly translational repression activity. Inhibits interaction with CCND1 and cell cycle arrest.
up seq anno comments: Insulinoma-associated protein 1
up seq anno comments: Necessary for interaction with CCND1
up seq anno comments: Pro residues
up seq anno comments: Required and sufficient for interaction with KDM1A
up seq anno comments: SNAG domain
up seq anno feature ids: PRO_0000047268

9606:SH3PXD2A
gene id: 9606:SH3PXD2A
uniprot id: B3KPL1
uniprot id: Q5TCZ1
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of binding to (PtdIns(3)P) and (PtdIns(3,4)P2).
up seq anno comments: PX
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: SH3
up seq anno comments: SH3 1
up seq anno comments: SH3 2
up seq anno comments: SH3 3
up seq anno comments: SH3 4
up seq anno comments: SH3 5
up seq anno comments: SH3 and PX domain-containing protein 2A
up seq anno feature ids: PRO_0000278488
up seq anno feature ids: VAR_030781
up seq anno feature ids: VAR_030782
up seq anno feature ids: VAR_056993
up seq anno feature ids: VSP_023312
up seq anno feature ids: VSP_023313

9606:PEX5L
gene id: 9606:PEX5L
uniprot id: Q8IYB4
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5 and isoform 7.
up seq anno comments: In isoform 6.
up seq anno comments: In isoform 7.
up seq anno comments: In isoform 8.
up seq anno comments: PEX5-related protein
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: TPR 1
up seq anno comments: TPR 2
up seq anno comments: TPR 3
up seq anno comments: TPR 4
up seq anno comments: TPR 5
up seq anno comments: TPR 6
up seq anno feature ids: PRO_0000106317
up seq anno feature ids: VAR_035865
up seq anno feature ids: VSP_010435
up seq anno feature ids: VSP_010436
up seq anno feature ids: VSP_044743
up seq anno feature ids: VSP_045136
up seq anno feature ids: VSP_046976
up seq anno feature ids: VSP_046977
up seq anno feature ids: VSP_046978

9606:OPN5
gene id: 9606:OPN5
uniprot id: Q6U736
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: N6-(retinylidene)lysine
up seq anno comments: Opsin-5
up seq anno comments: S-palmitoyl cysteine
up seq anno feature ids: PRO_0000197817

9606:PRAMEF33
gene id: 9606:PRAMEF33
uniprot id: A0A0G2JMD5
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno labels: Chain
up seq anno labels: Repeat
up seq anno comments: LRR 1; degenerate
up seq anno comments: LRR 2; degenerate
up seq anno comments: LRR 3; degenerate
up seq anno comments: LRR 4; degenerate
up seq anno comments: LRR 5
up seq anno comments: LRR 6
up seq anno comments: LRR 7
up seq anno comments: LRR 8
up seq anno comments: LRR 9
up seq anno comments: PRAME family member 33
up seq anno feature ids: PRO_0000440971

9606:MINDY2
gene id: 9606:MINDY2
uniprot id: Q8NBR6
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: No effect on binding to 'Lys-48'- or 'Lys-63'-tetraubiquitin chains.
up seq anno comments: Nucleophile
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Proton acceptor
up seq anno comments: Strongly decreased binding to 'Lys-48' or 'Lys-63'-tetraubiquitin chains.
up seq anno comments: Ubiquitin carboxyl-terminal hydrolase MINDY-2
up seq anno comments: Ubiquitin-binding
up seq anno comments: Ubiquitin-binding domain (UBD)
up seq anno feature ids: PRO_0000344042
up seq anno feature ids: VSP_034719

9606:GUCA1ANB-GUCA1A
gene id: 9606:GUCA1ANB-GUCA1A
uniprot id: B2R9P6
uniprot id: P43080
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Initiator Methionine
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Deamidated asparagine
up seq anno comments: EF-hand
up seq anno comments: EF-hand 1
up seq anno comments: EF-hand 2
up seq anno comments: EF-hand 3
up seq anno comments: EF-hand 4
up seq anno comments: Found in a family with autosomal dominant macular dystrophy; unknown pathological significance.
up seq anno comments: Found in autosomal dominant macular dystrophy; unknown pathological significance; affects guanylate cyclase regulator activity resulting in a constitutively active form at physiologic calcium concentrations; no change of affinity for calcium ions; increased affinity for magnesium ions.
up seq anno comments: Guanylyl cyclase-activating protein 1
up seq anno comments: In COD3 and CORD14.
up seq anno comments: In COD3.
up seq anno comments: In COD3; constitutive activation of GUCY2D.
up seq anno comments: In COD3; exhibits an about 18-fold shift of ionic calcium concentration at which the guanylate cyclase activity is halfmaximal.
up seq anno comments: In COD3; exhibits an about 28-fold shift of ionic calcium concentration at which the guanylate cyclase activity is halfmaximal.
up seq anno comments: In COD3; exhibits an about 6-fold shift of ionic calcium concentration at which the guanylate cyclase activity is halfmaximal.
up seq anno comments: In COD3; likely benign variant.
up seq anno comments: In COD3; results in impaired guanylate cyclase regulator activity leading to increased GUCY2D activity.
up seq anno comments: In COD3; results in impaired guanylate cyclase regulator activity; at high calcium ion concentrations the mutant protein stimulates GUCY2D activity while the wild-type inhibits it.
up seq anno comments: In COD3; results in impaired guanylate cyclase regulator activity; at low calcium concentrations the mutant protein stimulates GUCY2D less efficiently than the wild-type but it remains active at high calcium concentrations causing persistent GUCY2D stimulation.
up seq anno comments: In COD3; some subjects may present a moderately severe cone-rod dystrophy; unknown pathological significance; causes a decrease in the number of bound calcium ions from 3 to 2, without changing the activity profile.
up seq anno comments: In COD3; unknown pathological significance.
up seq anno comments: In CORD14.
up seq anno comments: In CORD14; affects guanylate cyclase regulator activity resulting in constitutive activation of GUCY2D at physiologic calcium concentrations; 10-fold lower affinity for calcium ions.
up seq anno comments: In CORD14; affects guanylate cyclase regulator activity resulting in constitutive activation of GUCY2D at physiologic calcium concentrations; altered tertiary structure; no change of affinity for calcium ions; increased affinity for magnesium ions.
up seq anno comments: In CORD14; results in impaired guanylate cyclase regulator activity; at low calcium concentrations the mutant protein stimulates GUCY2D as the wild-type while at high calcium concentrations it does not fully inhibit GUCY2D; decreased affinity for calcium ions.
up seq anno comments: In CORD14; results in impaired guanylate cyclase regulator activity; interferes with GCAP1 calcium-dependent transition from activator to inhibitor of GUCY2D; the mutant protein remains active at high calcium concentrations causing persistent GUCY2D stimulation.
up seq anno comments: In a patient with an atypical form of retinitis pigmentosa; unknown pathological significance.
up seq anno comments: N-myristoyl glycine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000073803
up seq anno feature ids: VAR_001372
up seq anno feature ids: VAR_010648
up seq anno feature ids: VAR_012987
up seq anno feature ids: VAR_060802
up seq anno feature ids: VAR_060803
up seq anno feature ids: VAR_060804
up seq anno feature ids: VAR_060805
up seq anno feature ids: VAR_060806
up seq anno feature ids: VAR_060807
up seq anno feature ids: VAR_083669
up seq anno feature ids: VAR_083670
up seq anno feature ids: VAR_083671
up seq anno feature ids: VAR_083672
up seq anno feature ids: VAR_083673
up seq anno feature ids: VAR_083674
up seq anno feature ids: VAR_083675
up seq anno feature ids: VAR_083676
up seq anno feature ids: VAR_083677
up seq anno feature ids: VAR_083678
up seq anno feature ids: VAR_083679
up seq anno feature ids: VAR_083680
up seq anno feature ids: VAR_083681
up seq anno feature ids: VAR_083682
up seq anno feature ids: VAR_083683
up seq anno feature ids: VAR_083684

9606:GPR148
gene id: 9606:GPR148
uniprot id: Q8TDV2
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Probable G-protein coupled receptor 148
up seq anno feature ids: PRO_0000069625
up seq anno feature ids: VAR_049403

9606:DUSP6
gene id: 9606:DUSP6
uniprot id: Q16828
uniprot id: Q53GP9
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: Dual specificity protein phosphatase 6
up seq anno comments: In HH19.
up seq anno comments: In HH19; rare variant associated with susceptibility to disease; the patient carries a second mutation in the HH-associated gene FGFR1.
up seq anno comments: In HH19; rare variant associated with susceptibility to disease; the patient carries a second variant in the HH-associated gene SPRY4.
up seq anno comments: In isoform 2.
up seq anno comments: Phosphocysteine intermediate
up seq anno comments: Rhodanese
up seq anno comments: Tyrosine specific protein phosphatases
up seq anno comments: Tyrosine-protein phosphatase
up seq anno feature ids: PRO_0000094804
up seq anno feature ids: VAR_015113
up seq anno feature ids: VAR_051750
up seq anno feature ids: VAR_051751
up seq anno feature ids: VAR_069943
up seq anno feature ids: VAR_069944
up seq anno feature ids: VAR_069945
up seq anno feature ids: VAR_069946
up seq anno feature ids: VSP_005137

9606:SPATA22
gene id: 9606:SPATA22
uniprot id: A0A140VJV9
uniprot id: B4DHW8
uniprot id: F5GWB9
uniprot id: Q8NHS9
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Polar residues
up seq anno comments: Spermatogenesis-associated protein 22
up seq anno feature ids: PRO_0000251605
up seq anno feature ids: VAR_027693
up seq anno feature ids: VAR_027694
up seq anno feature ids: VAR_027695
up seq anno feature ids: VAR_027696
up seq anno feature ids: VSP_020763
up seq anno feature ids: VSP_044858

9606:PRODH
gene id: 9606:PRODH
uniprot id: O43272
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transit Peptide
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transit Peptide
up seq anno comments: Disordered
up seq anno comments: In HYRPRO1 and SCZD4; associated with disease susceptibility; mild decrease of enzymatic activity.
up seq anno comments: In HYRPRO1 and SCZD4; may be associated with disease susceptibility; enhanced enzymatic activity.
up seq anno comments: In HYRPRO1 and SCZD4; may be associated with disease susceptibility; moderate reduction of enzymatic activity.
up seq anno comments: In HYRPRO1 and SCZD4; may be associated with disease susceptibility; strongly reduced enzymatic activity.
up seq anno comments: In HYRPRO1; mild decrease of enzymatic activity.
up seq anno comments: In HYRPRO1; moderate reduction of enzymatic activity.
up seq anno comments: In SCZD4; may be associated with disease susceptibility; strongly reduced affinity for FAD; strongly reduced enzymatic activity.
up seq anno comments: In SCZD4; may be associated with disease susceptibility; strongly reduced enzymatic activity.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: May be a risk factor for schizophrenia; moderate reduction of enzymatic activity.
up seq anno comments: Mild decrease of enzymatic activity.
up seq anno comments: Mitochondrion
up seq anno comments: Moderate reduction of enzymatic activity.
up seq anno comments: N6-acetyllysine
up seq anno comments: Proline dehydrogenase 1, mitochondrial
up seq anno comments: Strongly reduced enzymatic activity.
up seq anno feature ids: PRO_0000025800
up seq anno feature ids: VAR_029563
up seq anno feature ids: VAR_029564
up seq anno feature ids: VAR_029565
up seq anno feature ids: VAR_029566
up seq anno feature ids: VAR_029567
up seq anno feature ids: VAR_029568
up seq anno feature ids: VAR_029569
up seq anno feature ids: VAR_029570
up seq anno feature ids: VAR_029571
up seq anno feature ids: VAR_029572
up seq anno feature ids: VAR_029573
up seq anno feature ids: VAR_029574
up seq anno feature ids: VAR_029575
up seq anno feature ids: VAR_029576
up seq anno feature ids: VAR_029577
up seq anno feature ids: VAR_029874
up seq anno feature ids: VAR_029875
up seq anno feature ids: VAR_036566
up seq anno feature ids: VAR_064883
up seq anno feature ids: VAR_064884
up seq anno feature ids: VAR_064885
up seq anno feature ids: VAR_064886
up seq anno feature ids: VSP_021848
up seq anno feature ids: VSP_040848
up seq anno feature ids: VSP_040849

9606:DBNL
gene id: 9606:DBNL
uniprot id: B4DUF9
uniprot id: Q9UJU6
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: ADF-H
up seq anno comments: Abolishes cleavage by caspase-3.
up seq anno comments: Basic and acidic residues
up seq anno comments: Cleavage; by caspase-3
up seq anno comments: Disordered
up seq anno comments: Drebrin-like protein
up seq anno comments: In isoform 2, isoform 3, isoform 4 and isoform 6.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: SH3
up seq anno feature ids: PRO_0000079793
up seq anno feature ids: VSP_011398
up seq anno feature ids: VSP_011399
up seq anno feature ids: VSP_054779
up seq anno feature ids: VSP_054780
up seq anno feature ids: VSP_057346

9606:VCL
gene id: 9606:VCL
uniprot id: B3KXA2
uniprot id: P18206
uniprot id: V9HWK2
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 1
up seq anno comments: 2
up seq anno comments: 3
up seq anno comments: 3 X 112 AA tandem repeats
up seq anno comments: C-terminal tail
up seq anno comments: Disordered
up seq anno comments: Facilitates phospholipid membrane insertion
up seq anno comments: In CMD1W.
up seq anno comments: In CMD1W; significantly alters metavinculin-mediated cross-linking of actin filaments.
up seq anno comments: In CMH15.
up seq anno comments: In isoform 1.
up seq anno comments: In isoform 3.
up seq anno comments: Interaction with ACTN4
up seq anno comments: Linker (Pro-rich)
up seq anno comments: N-terminal globular head
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Phosphotyrosine; by SRC-type Tyr-kinases
up seq anno comments: Pro residues
up seq anno comments: Talin-interaction
up seq anno comments: Vinculin
up seq anno feature ids: PRO_0000064252
up seq anno feature ids: VAR_035101
up seq anno feature ids: VAR_035102
up seq anno feature ids: VAR_035103
up seq anno feature ids: VAR_035104
up seq anno feature ids: VAR_035105
up seq anno feature ids: VAR_037667
up seq anno feature ids: VSP_006731
up seq anno feature ids: VSP_011857
up seq anno feature ids: VSP_011858
up seq anno feature ids: VSP_011859

9606:CSDE1
gene id: 9606:CSDE1
uniprot id: O75534
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: CSD 1
up seq anno comments: CSD 2; truncated
up seq anno comments: CSD 3
up seq anno comments: CSD 4; truncated
up seq anno comments: CSD 5
up seq anno comments: CSD 6
up seq anno comments: CSD 7
up seq anno comments: CSD 8
up seq anno comments: CSD 9
up seq anno comments: Cold shock domain-containing protein E1
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: SUZ-C
up seq anno feature ids: PRO_0000100348
up seq anno feature ids: VSP_001138
up seq anno feature ids: VSP_045615

9606:FBXL19
gene id: 9606:FBXL19
uniprot id: H3BVB1
uniprot id: Q6PCT2
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: CXXC-type
up seq anno comments: Disordered
up seq anno comments: F-box
up seq anno comments: F-box/LRR-repeat protein 19
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: LRR 1
up seq anno comments: LRR 2
up seq anno comments: LRR 3
up seq anno comments: LRR 4
up seq anno comments: LRR 5
up seq anno comments: LRR 6
up seq anno comments: PHD-type
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000119868
up seq anno feature ids: VSP_013015
up seq anno feature ids: VSP_040503

9606:CDC42EP1
gene id: 9606:CDC42EP1
uniprot id: Q00587
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Splice Variant
up seq anno comments: 1
up seq anno comments: 2
up seq anno comments: 3
up seq anno comments: 4
up seq anno comments: 5
up seq anno comments: 6
up seq anno comments: 7
up seq anno comments: 8
up seq anno comments: 8 X 7 AA tandem repeats of [PT]-[AT]-A-[ENT]-[PT]-[PTS]-[AG]
up seq anno comments: Basic and acidic residues
up seq anno comments: CRIB
up seq anno comments: Cdc42 effector protein 1
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: No binding with CDC42.
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000212657
up seq anno feature ids: VSP_004325

9606:ZNF385D
gene id: 9606:ZNF385D
uniprot id: A0A2R8YG37
uniprot id: A0A994J5P6
uniprot id: Q9H6B1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type
up seq anno comments: Disordered
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: Matrin-type 1
up seq anno comments: Matrin-type 2
up seq anno comments: Matrin-type 3
up seq anno comments: Polar residues
up seq anno comments: Zinc finger protein 385D
up seq anno feature ids: PRO_0000191819
up seq anno feature ids: VAR_036058
up seq anno feature ids: VAR_036059

9606:YWHAQ
gene id: 9606:YWHAQ
uniprot id: P27348
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Site
up seq anno comments: 14-3-3 protein theta
up seq anno comments: 3'-nitrotyrosine
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: Interaction with phosphoserine on interacting protein
up seq anno comments: N-acetylmethionine
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000058636

9606:NTAN1
gene id: 9606:NTAN1
uniprot id: Q96AB6
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 3-fold reduction in catalytic activity.
up seq anno comments: Abolishes catalytic activity.
up seq anno comments: Essential for catalytic activity
up seq anno comments: Protein N-terminal asparagine amidohydrolase
up seq anno feature ids: PRO_0000057971
up seq anno feature ids: VAR_051244
up seq anno feature ids: VAR_051245

9606:GPATCH1
gene id: 9606:GPATCH1
uniprot id: Q9BRR8
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Disordered
up seq anno comments: G patch domain-containing protein 1
up seq anno comments: G-patch
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno feature ids: PRO_0000287457
up seq anno feature ids: VAR_032303
up seq anno feature ids: VAR_032304
up seq anno feature ids: VAR_032305
up seq anno feature ids: VAR_032306
up seq anno feature ids: VAR_051014
up seq anno feature ids: VAR_059657

9606:KCNJ2
gene id: 9606:KCNJ2
uniprot id: P63252
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: INTRAMEM
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: INTRAMEM
up seq anno labels: Initiator Methionine
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Does not significantly alter affinity for PIP2, but mutant channels do not open despite binding PIP2.
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=M1
up seq anno comments: Helical; Name=M2
up seq anno comments: Helical; Pore-forming; Name=H5
up seq anno comments: In ATFB9; has a gain-of-function effect on the channels.
up seq anno comments: In LQT7.
up seq anno comments: In LQT7; loss of function and dominant-negative effect in current.
up seq anno comments: In LQT7; loss of function mutation acting in a dominant-negative manner.
up seq anno comments: In LQT7; there is loss of function when the mutant is expressed alone and a dominant-negative effect when expressed with wild-type channels; channel trafficking and assembly are not affected.
up seq anno comments: In SQT3; gain of function.
up seq anno comments: Inward rectifier potassium channel 2
up seq anno comments: N-myristoyl glycine
up seq anno comments: PDZ-binding
up seq anno comments: Pore-forming
up seq anno comments: Removed
up seq anno comments: Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesium
up seq anno comments: S-nitrosocysteine
up seq anno comments: Selectivity filter
up seq anno feature ids: PRO_0000154923
up seq anno feature ids: VAR_017851
up seq anno feature ids: VAR_017852
up seq anno feature ids: VAR_017853
up seq anno feature ids: VAR_017854
up seq anno feature ids: VAR_017855
up seq anno feature ids: VAR_017856
up seq anno feature ids: VAR_017857
up seq anno feature ids: VAR_017858
up seq anno feature ids: VAR_017859
up seq anno feature ids: VAR_023842
up seq anno feature ids: VAR_065861
up seq anno feature ids: VAR_065862
up seq anno feature ids: VAR_065863
up seq anno feature ids: VAR_065864

9606:ELK3
gene id: 9606:ELK3
uniprot id: P41970
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: DNA Binding
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: DNA Binding
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: CTBP-binding motif
up seq anno comments: Disordered
up seq anno comments: ETS
up seq anno comments: ETS domain-containing protein Elk-3
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000204097
up seq anno feature ids: VAR_048946

9606:CENPI
gene id: 9606:CENPI
uniprot id: A0A8C8KX99
uniprot id: B4DZL4
uniprot id: Q92674
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Centromere protein I
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000087354
up seq anno feature ids: VSP_015797

9606:SLC15A4
gene id: 9606:SLC15A4
uniprot id: Q8N697
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Abolished localization to the lysosome membrane and promotes relocalization to the plasma membrane; when associated with 14-A-A-15.
up seq anno comments: Abolished localization to the lysosome membrane and promotes relocalization to the plasma membrane; when associated with 318-A-A-319. Does not affect interaction with TASL.
up seq anno comments: Abolished transmembrane transporter activity. Abolished interaction with TASL.
up seq anno comments: Does not affect interaction with TASL.
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Solute carrier family 15 member 4
up seq anno feature ids: PRO_0000338599
up seq anno feature ids: VAR_051611
up seq anno feature ids: VSP_034052

9606:RIN2
gene id: 9606:RIN2
uniprot id: A1A4T0
uniprot id: Q8WYP3
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Ras and Rab interactor 2
up seq anno comments: Ras-associating
up seq anno comments: SH2
up seq anno comments: VPS9
up seq anno feature ids: PRO_0000191320
up seq anno feature ids: VAR_024694
up seq anno feature ids: VAR_052945
up seq anno feature ids: VSP_015145

9606:ABCC4
gene id: 9606:ABCC4
uniprot id: A8K2Q2
uniprot id: O15439
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: 10% reduced expression level compared to wild-type; transport properties comparable to wild-type.
up seq anno comments: 20% reduced expression level compared to wild-type; significant lower activity in 6-mercaptopurine transport than wild-type.
up seq anno comments: 40% reduced expression level compared to wild-type; higher transport of 9-(2-phosphonyl-methoxyethyl) adenine than wild-type.
up seq anno comments: ABC transmembrane type-1
up seq anno comments: ABC transmembrane type-1 1
up seq anno comments: ABC transmembrane type-1 2
up seq anno comments: ABC transporter
up seq anno comments: ABC transporter 1
up seq anno comments: ABC transporter 2
up seq anno comments: ATP-binding cassette sub-family C member 4
up seq anno comments: Disordered
up seq anno comments: Does not affect plasma membrane localization; 1.5 fold increase in PEG2 transport; does not affect estradiol 17-beta-D-glucuronide transport.
up seq anno comments: Does not affect plasma membrane localization; PEG2 transport is decreased by 50%; does not affect estradiol 17-beta-D-glucuronide transport.
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: In isoform 4.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: PDZ-binding
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Transport properties comparable to wild-type.
up seq anno feature ids: PRO_0000093362
up seq anno feature ids: VAR_020241
up seq anno feature ids: VAR_020242
up seq anno feature ids: VAR_020243
up seq anno feature ids: VAR_020244
up seq anno feature ids: VAR_020245
up seq anno feature ids: VAR_020246
up seq anno feature ids: VAR_022072
up seq anno feature ids: VAR_022073
up seq anno feature ids: VAR_029121
up seq anno feature ids: VAR_029122
up seq anno feature ids: VAR_029123
up seq anno feature ids: VAR_029124
up seq anno feature ids: VAR_029125
up seq anno feature ids: VAR_029126
up seq anno feature ids: VAR_045684
up seq anno feature ids: VAR_045685
up seq anno feature ids: VAR_045686
up seq anno feature ids: VAR_045687
up seq anno feature ids: VAR_045688
up seq anno feature ids: VAR_046445
up seq anno feature ids: VAR_046446
up seq anno feature ids: VAR_046447
up seq anno feature ids: VAR_046448
up seq anno feature ids: VSP_035426
up seq anno feature ids: VSP_043283

9606:OMD
gene id: 9606:OMD
uniprot id: Q99983
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: LRR 1
up seq anno comments: LRR 10
up seq anno comments: LRR 11
up seq anno comments: LRR 2
up seq anno comments: LRR 3
up seq anno comments: LRR 4
up seq anno comments: LRR 5
up seq anno comments: LRR 6
up seq anno comments: LRR 7
up seq anno comments: LRR 8
up seq anno comments: LRR 9
up seq anno comments: LRRNT
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Osteomodulin
up seq anno comments: Sulfotyrosine
up seq anno feature ids: PRO_0000032754
up seq anno feature ids: VAR_052014
up seq anno feature ids: VAR_052015
up seq anno feature ids: VAR_052016
up seq anno feature ids: VAR_052017
up seq anno feature ids: VAR_052018

9606:MYOF
gene id: 9606:MYOF
uniprot id: Q9NZM1
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: C2 1
up seq anno comments: C2 2
up seq anno comments: C2 3
up seq anno comments: C2 4
up seq anno comments: C2 5
up seq anno comments: C2 6
up seq anno comments: C2 7
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In HAE7; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: In isoform 7.
up seq anno comments: In isoform 8.
up seq anno comments: Myoferlin
up seq anno comments: N6-acetyllysine
up seq anno comments: Necessary for interaction with EHD2
up seq anno comments: Phosphoserine
up seq anno comments: Reduces interaction with EHD2.
up seq anno feature ids: PRO_0000057884
up seq anno feature ids: VAR_031250
up seq anno feature ids: VAR_031251
up seq anno feature ids: VAR_031252
up seq anno feature ids: VAR_049058
up seq anno feature ids: VAR_049059
up seq anno feature ids: VAR_085819
up seq anno feature ids: VSP_001515
up seq anno feature ids: VSP_001516
up seq anno feature ids: VSP_001517
up seq anno feature ids: VSP_023796
up seq anno feature ids: VSP_023797
up seq anno feature ids: VSP_023798
up seq anno feature ids: VSP_023799
up seq anno feature ids: VSP_023800
up seq anno feature ids: VSP_023801
up seq anno feature ids: VSP_023802

9606:ZNF214
gene id: 9606:ZNF214
uniprot id: Q9UL59
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 1; degenerate
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3; degenerate
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 214
up seq anno feature ids: PRO_0000047458
up seq anno feature ids: VAR_019975
up seq anno feature ids: VAR_019976
up seq anno feature ids: VAR_057403
up seq anno feature ids: VAR_057404

9606:PAX6
gene id: 9606:PAX6
uniprot id: A0A1W2PRA8
uniprot id: D1KF47
uniprot id: F1T0F8
uniprot id: P26367
uniprot id: Q66SS1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: Homeobox
up seq anno comments: In AN1 and ocular anterior segment anomalies; loss of DNA binding ability.
up seq anno comments: In AN1.
up seq anno comments: In AN1; atypical form.
up seq anno comments: In AN1; loss of activity.
up seq anno comments: In AN1; mild.
up seq anno comments: In AN1; mild; shows 50% lower DNA-binding and transactivation ability than the wild-type protein.
up seq anno comments: In AN1; reduced DNA binding ability.
up seq anno comments: In AN1; shows almost no binding efficiency; transcriptional activation ability is about 50% lower than that of the wild-type protein.
up seq anno comments: In AN1; shows almost no binding efficiency; transcriptional activation ability is about 80% of that of the wild-type protein.
up seq anno comments: In AN1; shows only one-quarter to one-third the binding ability of the normal wild-type protein; exhibits normal transactivation.
up seq anno comments: In AN1; the mutant homeodomain binds DNA as well as the wild-type homeodomain; the mutant does not modify the DNA-binding properties of the paired domain; the steady-state levels of the full-length mutant protein are higher than those of the wild-type one; a responsive promoter is activated to a higher extent by the mutant protein than by the wild-type protein; the presence of the mutation reduces sensitivity to trypsin digestion.
up seq anno comments: In ASGD5.
up seq anno comments: In ASGD5; also found in patients with congenital cataract and foveal hypoplasia.
up seq anno comments: In BONH.
up seq anno comments: In BONH; significant impairment of ability to activate transcription.
up seq anno comments: In COAD and COLON; significant impairment of transcriptional activation ability.
up seq anno comments: In FVH1; isolated.
up seq anno comments: In FVH1; unknown pathological significance.
up seq anno comments: In a family with nystagmus associated with a variant form of aniridia.
up seq anno comments: In foveal hypoplasia; associated with presenile cataract syndrome.
up seq anno comments: In isoform 5a.
up seq anno comments: In morning glory disk anomaly; significant impairment of transcriptional activation ability.
up seq anno comments: In optic nerve aplasia.
up seq anno comments: PAI subdomain
up seq anno comments: Paired
up seq anno comments: Paired box protein Pax-6
up seq anno comments: Polar residues
up seq anno comments: RED subdomain
up seq anno comments: Required for suppression of NFATC1-mediated transcription
up seq anno comments: Shows about two-fold higher binding efficiency than the normal wild-type protein; transcriptional activation ability is about 89% of that of the wild-type protein.
up seq anno feature ids: PRO_0000050185
up seq anno feature ids: VAR_003808
up seq anno feature ids: VAR_003809
up seq anno feature ids: VAR_003810
up seq anno feature ids: VAR_003811
up seq anno feature ids: VAR_003812
up seq anno feature ids: VAR_003813
up seq anno feature ids: VAR_003814
up seq anno feature ids: VAR_003815
up seq anno feature ids: VAR_003816
up seq anno feature ids: VAR_008693
up seq anno feature ids: VAR_008694
up seq anno feature ids: VAR_008695
up seq anno feature ids: VAR_008696
up seq anno feature ids: VAR_008697
up seq anno feature ids: VAR_008698

9606:RNASE8
gene id: 9606:RNASE8
uniprot id: Q8TDE3
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Proton acceptor
up seq anno comments: Proton donor
up seq anno comments: Ribonuclease 8
up seq anno feature ids: PRO_0000030902
up seq anno feature ids: VAR_052194

9606:CSNK2A1
gene id: 9606:CSNK2A1
uniprot id: P68400
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Casein kinase II subunit alpha
up seq anno comments: In OCNDS.
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with beta subunit
up seq anno comments: Phosphoserine; by CDK1
up seq anno comments: Phosphothreonine; by CDK1
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000085883
up seq anno feature ids: VAR_077045
up seq anno feature ids: VAR_077046
up seq anno feature ids: VAR_077047
up seq anno feature ids: VAR_077048
up seq anno feature ids: VSP_041925

9606:UBE2G1
gene id: 9606:UBE2G1
uniprot id: P62253
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Glycyl thioester intermediate
up seq anno comments: N-acetylmethionine
up seq anno comments: N-acetylthreonine; in Ubiquitin-conjugating enzyme E2 G1, N-terminally processed
up seq anno comments: Removed; alternate
up seq anno comments: UBC core
up seq anno comments: Ubiquitin-conjugating enzyme E2 G1
up seq anno comments: Ubiquitin-conjugating enzyme E2 G1, N-terminally processed
up seq anno feature ids: PRO_0000082480
up seq anno feature ids: PRO_0000424514

9606:ARFIP1
gene id: 9606:ARFIP1
uniprot id: B4E273
uniprot id: P53367
uniprot id: Q8N8M9
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno comments: AH
up seq anno comments: Arfaptin-1
up seq anno comments: Basic and acidic residues
up seq anno comments: Complete loss of phosphorylation by PRKD1.
up seq anno comments: Disordered
up seq anno comments: In isoform 3.
up seq anno comments: In isoform A.
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno feature ids: PRO_0000064665
up seq anno feature ids: VSP_004088
up seq anno feature ids: VSP_057425

9606:NECAB3
gene id: 9606:NECAB3
uniprot id: Q96P71
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: ABM
up seq anno comments: Disordered
up seq anno comments: EF-hand
up seq anno comments: In isoform 1.
up seq anno comments: In isoform 3.
up seq anno comments: N-terminal EF-hand calcium-binding protein 3
up seq anno comments: No effect on interaction with APBA3.
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Required for interaction with APBA3
up seq anno feature ids: PRO_0000073863
up seq anno feature ids: VAR_048643
up seq anno feature ids: VSP_000737
up seq anno feature ids: VSP_000738
up seq anno feature ids: VSP_000739

9606:MYBPH
gene id: 9606:MYBPH
uniprot id: Q13203
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: Fibronectin type-III 1
up seq anno comments: Fibronectin type-III 2
up seq anno comments: Ig-like C2-type 1
up seq anno comments: Ig-like C2-type 2
up seq anno comments: Myosin-binding protein H
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000072698
up seq anno feature ids: VAR_028181
up seq anno feature ids: VAR_028182
up seq anno feature ids: VAR_028183

9606:LSM5
gene id: 9606:LSM5
uniprot id: A0A090N8Y5
uniprot id: Q9Y4Y9
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylalanine
up seq anno comments: Removed
up seq anno comments: Sm
up seq anno comments: U6 snRNA-associated Sm-like protein LSm5
up seq anno feature ids: PRO_0000125572
up seq anno feature ids: VSP_040991

9606:GEMIN5
gene id: 9606:GEMIN5
uniprot id: B7ZLC9
uniprot id: Q58EZ8
uniprot id: Q8TEQ6
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes interaction with U4 snRNA.
up seq anno comments: Abolishes interaction with U4 snRNA. Abolishes interaction with the 7-methylguanosine cap of RNA molecules. No effect on interaction with SMN complex.
up seq anno comments: Abolishes interaction with U4 snRNA. No effect on interaction with the isolated 7-methylguanosine cap that is normally part of RNA molecules. No effect on interaction with 80S ribosomes.
up seq anno comments: Abolishes interaction with the isolated 7-methylguanosine cap that is normally part of RNA molecules.
up seq anno comments: Anaphase-promoting complex subunit 4-like WD40
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Gem-associated protein 5
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Important for interaction with U1 snRNA
up seq anno comments: In NEDCAM.
up seq anno comments: In NEDCAM; impaired function in spliceosomal snRNP assembly; decreased protein abundance; decreased protein stability; decreased interaction with DDX20; decreased interaction with GEMIN4.
up seq anno comments: In NEDCAM; unknown pathological significance.
up seq anno comments: Interaction with U4 snRNA
up seq anno comments: Interaction with U4 snRNA and with the 7-methylguanosine cap of RNA molecules
up seq anno comments: No effect in interaction with U4 snRNA. No effect on interaction with SMN complex.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Strongly decreases interaction with U4 snRNA. No effect on interaction with the isolated 7-methylguanosine cap that is normally part of RNA molecules. Abolishes interaction with 80S ribosomes.
up seq anno comments: WD
up seq anno comments: WD 1
up seq anno comments: WD 10
up seq anno comments: WD 11
up seq anno comments: WD 12
up seq anno comments: WD 13
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno comments: WD 7
up seq anno comments: WD 8
up seq anno comments: WD 9
up seq anno feature ids: PRO_0000051004
up seq anno feature ids: VAR_033807
up seq anno feature ids: VAR_057604
up seq anno feature ids: VAR_085836
up seq anno feature ids: VAR_085837

9606:PUS7L
gene id: 9606:PUS7L
uniprot id: Q9H0K6
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: Nucleophile
up seq anno comments: Phosphoserine
up seq anno comments: Pseudouridylate synthase PUS7L
up seq anno comments: TRUD
up seq anno feature ids: PRO_0000316785
up seq anno feature ids: VAR_038392
up seq anno feature ids: VAR_038393
up seq anno feature ids: VAR_038394
up seq anno feature ids: VSP_054568

9606:AEN
gene id: 9606:AEN
uniprot id: Q8WTP8
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Abolishes exonuclease activity; when associated with A-114 and A-116.
up seq anno comments: Abolishes exonuclease activity; when associated with A-114 and A-258.
up seq anno comments: Abolishes exonuclease activity; when associated with A-116 and A-258.
up seq anno comments: Apoptosis-enhancing nuclease
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Exonuclease
up seq anno comments: In isoform 2.
up seq anno comments: Nuclear localization signal
up seq anno comments: Nucleolar localization signal
up seq anno feature ids: PRO_0000324088
up seq anno feature ids: VAR_039651
up seq anno feature ids: VAR_039652
up seq anno feature ids: VAR_039653
up seq anno feature ids: VSP_032132

9606:QSOX1
gene id: 9606:QSOX1
uniprot id: A0A140VKE5
uniprot id: O00391
uniprot id: Q13876
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Decreased O-glycosylation.
up seq anno comments: Decreased protein stability and catalytic activity; when associated with S-119 or T-119.
up seq anno comments: Disordered
up seq anno comments: ERV/ALR sulfhydryl oxidase
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Loss of activity.
up seq anno comments: Loss of catalytic activity. Cannot prevent cell detachment after depletion of the endogenous protein.
up seq anno comments: Loss of catalytic activity. Decreased protein stability and catalytic activity; when associated with A-72.
up seq anno comments: Loss of glycosylation site.
up seq anno comments: Loss of glycosylation site. Abolishes secretion. No effect on catalytic activity.
up seq anno comments: N-linked (GlcNAc...) (complex) asparagine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No effect. Reduces activity by 70%; when associated with S-512.
up seq anno comments: Nucleophile
up seq anno comments: Phosphoserine; by FAM20C
up seq anno comments: Redox-active
up seq anno comments: Reduces activity by 40%. Reduces activity by 70%; when associated with S-509.
up seq anno comments: Reduces activity by 93%.
up seq anno comments: Reduces activity by 96%.
up seq anno comments: Sulfhydryl oxidase
up seq anno comments: Sulfhydryl oxidase 1
up seq anno comments: Thioredoxin
up seq anno feature ids: PRO_0000249533
up seq anno feature ids: PRO_5004182219
up seq anno feature ids: PRO_5014247022
up seq anno feature ids: VAR_027429
up seq anno feature ids: VAR_027430
up seq anno feature ids: VAR_027431
up seq anno feature ids: VAR_027432
up seq anno feature ids: VAR_027433
up seq anno feature ids: VAR_027434
up seq anno feature ids: VAR_053652
up seq anno feature ids: VSP_020489
up seq anno feature ids: VSP_020490

9606:ZBTB48
gene id: 9606:ZBTB48
uniprot id: A8K291
uniprot id: B2R702
uniprot id: P10074
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Abolishes binding to the telomeric double-stranded 5'-TTAGGG-3' repeat.
up seq anno comments: BTB
up seq anno comments: C2H2-type
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 2; degenerate
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Telomere zinc finger-associated protein
up seq anno feature ids: PRO_0000047272
up seq anno feature ids: VAR_052925

9606:SELENOO
gene id: 9606:SELENOO
uniprot id: Q9BVL4
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non standard residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Transit Peptide
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non standard residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Transit Peptide
up seq anno comments: Abolishes redox complex formation.
up seq anno comments: Disordered
up seq anno comments: Enhances redox complex formation.
up seq anno comments: Loss of catalytic activity. Loss of ATP binding.
up seq anno comments: Mitochondrion
up seq anno comments: No effect on redox complex formation.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Pro residues
up seq anno comments: Protein adenylyltransferase SelO, mitochondrial
up seq anno comments: Proton acceptor
up seq anno comments: Selenocysteine
up seq anno comments: Slightly enhances redox complex formation.
up seq anno feature ids: PRO_0000121399
up seq anno feature ids: VAR_059952
up seq anno feature ids: VAR_059953
up seq anno feature ids: VAR_059954
up seq anno feature ids: VAR_059955

9606:RPS6KC1
gene id: 9606:RPS6KC1
uniprot id: A0A087X1U5
uniprot id: F5H7T0
uniprot id: F6RJM5
uniprot id: Q96S38
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In a breast infiltrating ductal carcinoma sample; somatic mutation.
up seq anno comments: In a lung adenocarcinoma sample; somatic mutation.
up seq anno comments: In a lung neuroendocrine carcinoma sample; somatic mutation.
up seq anno comments: In an ovarian mucinous carcinoma sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: MIT
up seq anno comments: PX
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Protein kinase
up seq anno comments: Protein kinase 1
up seq anno comments: Protein kinase 2
up seq anno comments: Proton acceptor
up seq anno comments: Ribosomal protein S6 kinase delta-1
up seq anno feature ids: PRO_0000233127
up seq anno feature ids: VAR_040647
up seq anno feature ids: VAR_040648
up seq anno feature ids: VAR_040649
up seq anno feature ids: VAR_040650
up seq anno feature ids: VAR_040651
up seq anno feature ids: VAR_040652
up seq anno feature ids: VAR_040653
up seq anno feature ids: VAR_040654
up seq anno feature ids: VAR_040655
up seq anno feature ids: VAR_040656
up seq anno feature ids: VAR_040657
up seq anno feature ids: VAR_051635
up seq anno feature ids: VSP_046333

9606:TMEM138
gene id: 9606:TMEM138
uniprot id: J3QSZ6
uniprot id: Q9NPI0
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: In JBTS16.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Transmembrane protein 138
up seq anno feature ids: PRO_0000285700
up seq anno feature ids: VAR_067059
up seq anno feature ids: VAR_067060
up seq anno feature ids: VAR_067061
up seq anno feature ids: VAR_067062
up seq anno feature ids: VSP_024891
up seq anno feature ids: VSP_024892
up seq anno feature ids: VSP_042588

9606:MSMP
gene id: 9606:MSMP
uniprot id: Q1L6U9
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Disordered
up seq anno comments: Prostate-associated microseminoprotein
up seq anno feature ids: PRO_0000338648
up seq anno feature ids: VAR_043818

9606:B3GNT5
gene id: 9606:B3GNT5
uniprot id: Q9BYG0
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: Lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000289209

9606:RPS6KA2
gene id: 9606:RPS6KA2
uniprot id: B7Z3B5
uniprot id: Q15349
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: AGC-kinase C-terminal
up seq anno comments: In a colorectal adenocarcinoma sample; somatic mutation.
up seq anno comments: In a metastatic melanoma sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PDPK1
up seq anno comments: Protein kinase
up seq anno comments: Protein kinase 1
up seq anno comments: Protein kinase 2
up seq anno comments: Proton acceptor
up seq anno comments: Ribosomal protein S6 kinase alpha-2
up seq anno feature ids: PRO_0000086201
up seq anno feature ids: VAR_040627
up seq anno feature ids: VAR_040628
up seq anno feature ids: VSP_017732
up seq anno feature ids: VSP_041836

9606:FAM174C
gene id: 9606:FAM174C
uniprot id: Q9BVV8
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Signal Peptide
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Protein FAM174C
up seq anno feature ids: PRO_0000079385

9606:C19orf12
gene id: 9606:C19orf12
uniprot id: Q9NSK7
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Found in families with neurodegeneration with brain iron accumulation; uncertain pathological significance.
up seq anno comments: Helical
up seq anno comments: In NBIA4 and SPG43; impairs subcellular localization to the endoplasmic reticulum or mitochondrion.
up seq anno comments: In NBIA4.
up seq anno comments: In NBIA4; impairs subcellular localization to the endoplasmic reticulum or mitochondrion.
up seq anno comments: In NBIA4; no effect on its subcellular localization; no cytosolic redistribution seen in response to oxidative stress.
up seq anno comments: In NBIA4; predominantly cytosolic distribution with a localization also seen in the mitochondrial matrix; no cytosolic redistribution seen in response to oxidative stress; patient fibroblasts accumulate high levels of mitochondrial calcium and are more prone to oxidative stress-induced apoptosis.
up seq anno comments: In NBIA4; unknown pathological significance.
up seq anno comments: In isoform 1 and isoform 3.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Protein C19orf12
up seq anno feature ids: PRO_0000296662
up seq anno feature ids: VAR_066617
up seq anno feature ids: VAR_066618
up seq anno feature ids: VAR_066619
up seq anno feature ids: VAR_066620
up seq anno feature ids: VAR_066621
up seq anno feature ids: VAR_066622
up seq anno feature ids: VAR_069756
up seq anno feature ids: VAR_069757
up seq anno feature ids: VAR_069758
up seq anno feature ids: VAR_069759
up seq anno feature ids: VAR_069760
up seq anno feature ids: VAR_069761
up seq anno feature ids: VAR_069762
up seq anno feature ids: VAR_069763
up seq anno feature ids: VAR_069764
up seq anno feature ids: VAR_070668
up seq anno feature ids: VAR_070669
up seq anno feature ids: VAR_076803
up seq anno feature ids: VAR_076804
up seq anno feature ids: VSP_027227
up seq anno feature ids: VSP_027228
up seq anno feature ids: VSP_037995

9606:MCEMP1
gene id: 9606:MCEMP1
uniprot id: A0A384NYE9
uniprot id: Q8IX19
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: Mast cell-expressed membrane protein 1
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000274052
up seq anno feature ids: VAR_030180
up seq anno feature ids: VAR_051159
up seq anno feature ids: VAR_059697

9606:ANGPTL1
gene id: 9606:ANGPTL1
uniprot id: O95841
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Signal Peptide
up seq anno comments: Angiopoietin-related protein 1
up seq anno comments: Fibrinogen C-terminal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000009118

9606:H1-4
gene id: 9606:H1-4
uniprot id: A3R0T8
uniprot id: P10412
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno comments: ADP-ribosylserine
up seq anno comments: Basic residues
up seq anno comments: Citrulline
up seq anno comments: Disordered
up seq anno comments: H15
up seq anno comments: Histone H1.4
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: N-acetylserine
up seq anno comments: N6-(beta-hydroxybutyryl)lysine
up seq anno comments: N6-(beta-hydroxybutyryl)lysine; alternate
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-methyllysine; alternate
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000195908
up seq anno feature ids: VAR_036203
up seq anno feature ids: VAR_049307

9606:ZSWIM9
gene id: 9606:ZSWIM9
uniprot id: Q86XI8
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: Uncharacterized protein ZSWIM9
up seq anno feature ids: PRO_0000322596
up seq anno feature ids: VSP_059340

9606:DIO3
gene id: 9606:DIO3
uniprot id: P55073
uniprot id: Q86TU3
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Non standard residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Mutagenesis Site
up seq anno labels: Non standard residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Complete loss of activity.
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: Selenocysteine
up seq anno comments: Thyroxine 5-deiodinase
up seq anno feature ids: PRO_0000154323

9606:OR5K1
gene id: 9606:OR5K1
uniprot id: A0A126GWC1
uniprot id: Q8NHB7
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 5K1
up seq anno feature ids: PRO_0000150600

9606:EOMES
gene id: 9606:EOMES
uniprot id: B7Z4K0
uniprot id: O95936
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: Eomesodermin homolog
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2, isoform 3 and isoform 4.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Required for transcription activation
up seq anno comments: T-box
up seq anno feature ids: PRO_0000184459
up seq anno feature ids: VAR_036069
up seq anno feature ids: VAR_059827
up seq anno feature ids: VSP_042161
up seq anno feature ids: VSP_042162
up seq anno feature ids: VSP_054801

9606:PCDHB14
gene id: 9606:PCDHB14
uniprot id: Q9Y5E9
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cadherin 1
up seq anno comments: Cadherin 2
up seq anno comments: Cadherin 3
up seq anno comments: Cadherin 4
up seq anno comments: Cadherin 5
up seq anno comments: Cadherin 6
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Protocadherin beta-14
up seq anno feature ids: PRO_0000003940
up seq anno feature ids: VSP_055932

9606:FREM3
gene id: 9606:FREM3
uniprot id: P0C091
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: CSPG 1
up seq anno comments: CSPG 10
up seq anno comments: CSPG 11
up seq anno comments: CSPG 12
up seq anno comments: CSPG 2
up seq anno comments: CSPG 3
up seq anno comments: CSPG 4
up seq anno comments: CSPG 5
up seq anno comments: CSPG 6
up seq anno comments: CSPG 7
up seq anno comments: CSPG 8
up seq anno comments: CSPG 9
up seq anno comments: Calx-beta 1
up seq anno comments: Calx-beta 2
up seq anno comments: Calx-beta 3
up seq anno comments: FRAS1-related extracellular matrix protein 3
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000010127
up seq anno feature ids: VAR_055819
up seq anno feature ids: VAR_059291

9606:ATP6V0C
gene id: 9606:ATP6V0C
uniprot id: P27449
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Site
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Site
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Essential for proton translocation
up seq anno comments: Helical
up seq anno comments: Lumenal
up seq anno comments: V-type proton ATPase 16 kDa proteolipid subunit c
up seq anno feature ids: PRO_0000071743

9606:SLC26A6
gene id: 9606:SLC26A6
uniprot id: A0A0C4DFT5
uniprot id: G3XAC1
uniprot id: Q96MZ1
uniprot id: Q9BXS9
uniprot id: Q9Y3Y1
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Does not inhibit cell membrane localization. Inhibits interaction with CA2 and bicarbonate transport.
up seq anno comments: Does not inhibit interaction with CA2. Does not inhibit interaction with CA2 and bicarbonate transport in PMA-induced cells.
up seq anno comments: Does not inhibit interaction with CA2. Inhibits interaction with CA2 and bicarbonate transport in PMA-induced cells.
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3, isoform 4 and isoform 5.
up seq anno comments: In isoform 4, isoform 5 and isoform 6.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: In isoform 7.
up seq anno comments: N-linked (GlcNAc) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PKC
up seq anno comments: Reduced chloride oxalate exchanger activity.
up seq anno comments: STAS
up seq anno comments: Solute carrier family 26 member 6
up seq anno feature ids: PRO_0000080171
up seq anno feature ids: VAR_012776
up seq anno feature ids: VSP_006169
up seq anno feature ids: VSP_040127
up seq anno feature ids: VSP_046807
up seq anno feature ids: VSP_047851
up seq anno feature ids: VSP_047852
up seq anno feature ids: VSP_055273
up seq anno feature ids: VSP_055274

9606:PLCH1
gene id: 9606:PLCH1
uniprot id: Q4KWH8
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1
up seq anno comments: Basic and acidic residues
up seq anno comments: C2
up seq anno comments: Disordered
up seq anno comments: EF-hand 1
up seq anno comments: EF-hand 2
up seq anno comments: EF-hand 3
up seq anno comments: In HPE14.
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: PH
up seq anno comments: PI-PLC X-box
up seq anno comments: PI-PLC Y-box
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000329007
up seq anno feature ids: VAR_087460
up seq anno feature ids: VSP_032901
up seq anno feature ids: VSP_032902
up seq anno feature ids: VSP_032903
up seq anno feature ids: VSP_032904
up seq anno feature ids: VSP_032905
up seq anno feature ids: VSP_032906

9606:SYCP2
gene id: 9606:SYCP2
uniprot id: Q9BX26
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Synaptonemal complex protein 2
up seq anno feature ids: PRO_0000072366
up seq anno feature ids: VAR_014115
up seq anno feature ids: VAR_054059
up seq anno feature ids: VAR_054060
up seq anno feature ids: VAR_054061

9606:EML5
gene id: 9606:EML5
uniprot id: Q05BV3
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: Echinoderm microtubule-associated protein-like 5
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: WD 1
up seq anno comments: WD 10
up seq anno comments: WD 11
up seq anno comments: WD 12
up seq anno comments: WD 13
up seq anno comments: WD 14
up seq anno comments: WD 15
up seq anno comments: WD 16
up seq anno comments: WD 17
up seq anno comments: WD 18
up seq anno comments: WD 19
up seq anno comments: WD 2
up seq anno comments: WD 20
up seq anno comments: WD 21
up seq anno comments: WD 22
up seq anno comments: WD 23
up seq anno comments: WD 24
up seq anno comments: WD 25
up seq anno comments: WD 26
up seq anno comments: WD 27
up seq anno comments: WD 28
up seq anno comments: WD 29
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno comments: WD 7
up seq anno comments: WD 8
up seq anno comments: WD 9
up seq anno feature ids: PRO_0000284395
up seq anno feature ids: VAR_031730
up seq anno feature ids: VSP_040645
up seq anno feature ids: VSP_041258
up seq anno feature ids: VSP_041259
up seq anno feature ids: VSP_041260
up seq anno feature ids: VSP_041261

9606:ZNF596
gene id: 9606:ZNF596
uniprot id: Q8TC21
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 596
up seq anno feature ids: PRO_0000245849
up seq anno feature ids: VAR_027014
up seq anno feature ids: VAR_027015
up seq anno feature ids: VSP_019801
up seq anno feature ids: VSP_019802
up seq anno feature ids: VSP_019803
up seq anno feature ids: VSP_019804

9606:ZNF416
gene id: 9606:ZNF416
uniprot id: Q9BWM5
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 12
up seq anno comments: C2H2-type 1; degenerate
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: Disordered
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 416
up seq anno feature ids: PRO_0000233984

9606:CARM1
gene id: 9606:CARM1
uniprot id: Q86X55
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Dimethylated arginine
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Histone-arginine methyltransferase CARM1
up seq anno comments: In isoform 1.
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with C9orf72
up seq anno comments: Loss of FBXO9-mediated ubiquitination and subsequent proteasomal degradation.
up seq anno comments: Loss of protein methyltransferase activity without affecting ability to regulate replication fork progression.
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno comments: Required for nuclear translocation
up seq anno comments: SAM-dependent MTase PRMT-type
up seq anno comments: Transactivation domain
up seq anno feature ids: PRO_0000212338
up seq anno feature ids: VSP_012506
up seq anno feature ids: VSP_012507
up seq anno feature ids: VSP_039876

9606:COLGALT1
gene id: 9606:COLGALT1
uniprot id: Q8NBJ5
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Endoplasmic reticulum retention motif
up seq anno comments: In BSVD3.
up seq anno comments: In BSVD3; loss of galactosyltransferase activity.
up seq anno comments: Loss of galactosyltransferase activity; when associated with A-166.
up seq anno comments: Loss of galactosyltransferase activity; when associated with A-168.
up seq anno comments: Loss of galactosyltransferase activity; when associated with A-461.
up seq anno comments: Loss of galactosyltransferase activity; when associated with A-463.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No effect on galactosyltransferase activity; when associated with A-585.
up seq anno comments: No effect on galactosyltransferase activity; when associated with A-587.
up seq anno comments: Procollagen galactosyltransferase 1
up seq anno comments: Small decrease of galactosyltransferase activity.
up seq anno feature ids: PRO_0000309536
up seq anno feature ids: VAR_081752
up seq anno feature ids: VAR_081753
up seq anno feature ids: VAR_081754

9606:PABPN1
gene id: 9606:PABPN1
uniprot id: Q86U42
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes self-association, protein aggregation and cell death.
up seq anno comments: Acidic residues
up seq anno comments: Asymmetric dimethylarginine
up seq anno comments: Asymmetric dimethylarginine; alternate
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with PAPOLA
up seq anno comments: Interaction with SKIP
up seq anno comments: N-acetylalanine
up seq anno comments: Necessary for homooligomerization
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Omega-N-methylarginine; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Polyadenylate-binding protein 2
up seq anno comments: RRM
up seq anno comments: Removed
up seq anno comments: Stimulates PAPOLA
up seq anno feature ids: PRO_0000081711
up seq anno feature ids: VAR_018179
up seq anno feature ids: VSP_009847
up seq anno feature ids: VSP_009848

9606:LOC728392
gene id: 9606:LOC728392
uniprot id: A0A494C1I1
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Region
up seq anno parent labels: Transmembrane
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Helical

9606:SRPK2
gene id: 9606:SRPK2
uniprot id: C9J2M4
uniprot id: P78362
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Cleavage; by caspase-3
up seq anno comments: Disordered
up seq anno comments: In a glioblastoma multiforme sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CK2
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by PKB/AKT1
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: SRSF protein kinase 2
up seq anno comments: SRSF protein kinase 2 C-terminal
up seq anno comments: SRSF protein kinase 2 N-terminal
up seq anno feature ids: PRO_0000086677
up seq anno feature ids: PRO_0000414751
up seq anno feature ids: PRO_0000414752
up seq anno feature ids: VAR_041114
up seq anno feature ids: VAR_041115
up seq anno feature ids: VAR_041116
up seq anno feature ids: VAR_041117
up seq anno feature ids: VAR_041118
up seq anno feature ids: VAR_057111
up seq anno feature ids: VAR_060390
up seq anno feature ids: VSP_039386

9606:HS6ST3
gene id: 9606:HS6ST3
uniprot id: Q8IZP7
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: Heparan-sulfate 6-O-sulfotransferase 3
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Pro residues
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000190809
up seq anno feature ids: VAR_028159

9606:IRF2BP1
gene id: 9606:IRF2BP1
uniprot id: Q8IU81
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: Cys-rich
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Interferon regulatory factor 2-binding protein 1
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Pro residues
up seq anno comments: RING-type; degenerate
up seq anno feature ids: PRO_0000328729
up seq anno feature ids: VAR_042502

9606:CKLF
gene id: 9606:CKLF
uniprot id: Q5BJH6
uniprot id: Q9UBR5
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Chemokine-like factor
up seq anno comments: Helical
up seq anno comments: In isoform 1 and isoform 3.
up seq anno comments: In isoform 4 and isoform 3.
up seq anno comments: In isoform 5.
up seq anno comments: MARVEL
up seq anno feature ids: PRO_0000186094
up seq anno feature ids: VSP_041445
up seq anno feature ids: VSP_041446
up seq anno feature ids: VSP_050605
up seq anno feature ids: VSP_050606

9606:TOM1L2
gene id: 9606:TOM1L2
uniprot id: B7Z2U2
uniprot id: B7Z671
uniprot id: F5H3S6
uniprot id: Q6ZVM7
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Clathrin-binding
up seq anno comments: Disordered
up seq anno comments: GAT
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: TOM1-like protein 2
up seq anno comments: VHS
up seq anno feature ids: PRO_0000278790
up seq anno feature ids: VSP_023390
up seq anno feature ids: VSP_023391
up seq anno feature ids: VSP_023392
up seq anno feature ids: VSP_057214
up seq anno feature ids: VSP_057215

9606:PBDC1
gene id: 9606:PBDC1
uniprot id: A6NDF3
uniprot id: Q9BVG4
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Phosphoserine
up seq anno comments: Protein PBDC1
up seq anno feature ids: PRO_0000254105

9606:SCO2
gene id: 9606:SCO2
uniprot id: O43819
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transit Peptide
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Helical
up seq anno comments: In MC4DN2 and MYP6; reduced cytochrome c oxidase subunit II synthesis and reduced ability to regulate cellular copper homeostasis.
up seq anno comments: In MC4DN2.
up seq anno comments: In MC4DN2; renders the protein unstable.
up seq anno comments: In MYP6; likely benign variant.
up seq anno comments: In MYP6; remains stable in mitochondria; reduces the level of the protein copurifying with COA6 by 80%.
up seq anno comments: In MYP6; unknown pathological significance.
up seq anno comments: Mitochondrial intermembrane
up seq anno comments: Mitochondrial matrix
up seq anno comments: Mitochondrion
up seq anno comments: Protein SCO2 homolog, mitochondrial
up seq anno comments: Redox-active
up seq anno comments: Thioredoxin
up seq anno feature ids: PRO_0000031922
up seq anno feature ids: VAR_008874
up seq anno feature ids: VAR_008875
up seq anno feature ids: VAR_011738
up seq anno feature ids: VAR_013238
up seq anno feature ids: VAR_051912
up seq anno feature ids: VAR_070053
up seq anno feature ids: VAR_070054
up seq anno feature ids: VAR_074010
up seq anno feature ids: VAR_074011
up seq anno feature ids: VAR_076281
up seq anno feature ids: VAR_076282

9606:ADM2
gene id: 9606:ADM2
uniprot id: Q7Z4H4
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Peptide
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno labels: Disulfide Bond
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Peptide
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno comments: Adrenomedullin-2
up seq anno comments: Disordered
up seq anno comments: Intermedin-short
up seq anno comments: Tyrosine amide
up seq anno feature ids: PRO_0000000977
up seq anno feature ids: PRO_0000000978
up seq anno feature ids: PRO_0000000979

9606:HBZ
gene id: 9606:HBZ
uniprot id: P02008
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Site
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Turn
up seq anno comments: Hemoglobin subunit zeta
up seq anno comments: N-acetylserine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno comments: distal binding residue
up seq anno comments: proximal binding residue
up seq anno feature ids: PRO_0000052851

9606:RPL13A
gene id: 9606:RPL13A
uniprot id: P40429
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno labels: Chain
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno comments: Citrulline
up seq anno comments: Large ribosomal subunit protein uL13
up seq anno comments: Loss of interferon-gamma induced phosphorylation.
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine; by ZIPK/DAPK3
up seq anno comments: Removed
up seq anno feature ids: PRO_0000133769

9606:HLCS
gene id: 9606:HLCS
uniprot id: P50747
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: BPL/LPL catalytic
up seq anno comments: Basic and acidic residues
up seq anno comments: Biotin--protein ligase
up seq anno comments: Disordered
up seq anno comments: In HLCS deficiency.
up seq anno comments: In HLCS deficiency; 0.2% activity.
up seq anno comments: In HLCS deficiency; 12% activity.
up seq anno comments: In HLCS deficiency; 14% of activity; shows elevated KM values for biotin (KM mutant) compared with that of the wild-type form.
up seq anno comments: In HLCS deficiency; 22% activity; shows elevated KM values for biotin (KM mutant) compared with that of the wild-type form.
up seq anno comments: In HLCS deficiency; 3.4% activity.
up seq anno comments: In HLCS deficiency; 4.3% activity.
up seq anno comments: In HLCS deficiency; <10% activity.
up seq anno comments: In HLCS deficiency; <10% activity; has normal or low KM values for biotin (non-KM mutant).
up seq anno comments: In HLCS deficiency; almost no activity.
up seq anno comments: In HLCS deficiency; benign variant; conserves enzymatic wild-type activity.
up seq anno comments: In HLCS deficiency; has normal or low KM values for biotin (non-KM mutant).
up seq anno comments: In HLCS deficiency; has normal or low KM values for biotin (non-KM mutant); growth of patients' fibroblasts is compromised compared with normal fibroblasts; patients cells are not sensitive to biotin-depletion from the media; growth rates cannot be restored by re-administration of biotin; enzyme activity is severely compromised and cannot be increased by additional biotin; turn-over rate for the mutant protein is double that of wild-type enzyme.
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000064979
up seq anno feature ids: VAR_005084
up seq anno feature ids: VAR_009196
up seq anno feature ids: VAR_009197
up seq anno feature ids: VAR_009198
up seq anno feature ids: VAR_009199
up seq anno feature ids: VAR_009200
up seq anno feature ids: VAR_009201
up seq anno feature ids: VAR_013009
up seq anno feature ids: VAR_021218
up seq anno feature ids: VAR_021219
up seq anno feature ids: VAR_021220
up seq anno feature ids: VAR_035800
up seq anno feature ids: VAR_046507
up seq anno feature ids: VAR_046508
up seq anno feature ids: VAR_046509
up seq anno feature ids: VAR_046510
up seq anno feature ids: VAR_046511
up seq anno feature ids: VAR_046512
up seq anno feature ids: VAR_046513
up seq anno feature ids: VAR_046514
up seq anno feature ids: VAR_046515
up seq anno feature ids: VAR_046516
up seq anno feature ids: VAR_046517
up seq anno feature ids: VAR_073074
up seq anno feature ids: VAR_073075
up seq anno feature ids: VSP_061442

9606:CYP1A1
gene id: 9606:CYP1A1
uniprot id: P04798
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Cytochrome P450 1A1
up seq anno comments: In allele CYP1A1*10.
up seq anno comments: In allele CYP1A1*11.
up seq anno comments: In allele CYP1A1*2B and allele CYP1A1*2C; displays 5.7- and 12-fold increase in catalytic efficiency in the formation of 2-hydroxylated estrogens, 17beta-estradiol and estrone respectively..
up seq anno comments: In allele CYP1A1*4; displays similar catalytic efficiency toward estrogens when compared to the wild-type enzyme..
up seq anno comments: In allele CYP1A1*5.
up seq anno comments: In allele CYP1A1*6.
up seq anno comments: In allele CYP1A1*8.
up seq anno comments: In allele CYP1A1*9.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Mitochondrial targeting signal
up seq anno comments: O-linked (GlcNAc) serine
up seq anno comments: axial binding residue
up seq anno feature ids: PRO_0000051627
up seq anno feature ids: VAR_001243
up seq anno feature ids: VAR_008342
up seq anno feature ids: VAR_009280
up seq anno feature ids: VAR_016937
up seq anno feature ids: VAR_016938
up seq anno feature ids: VAR_016939
up seq anno feature ids: VAR_016940
up seq anno feature ids: VAR_016941
up seq anno feature ids: VAR_016942
up seq anno feature ids: VAR_020122
up seq anno feature ids: VAR_023194
up seq anno feature ids: VAR_023195
up seq anno feature ids: VAR_024706
up seq anno feature ids: VAR_024707
up seq anno feature ids: VAR_024708
up seq anno feature ids: VAR_033817
up seq anno feature ids: VAR_033818
up seq anno feature ids: VSP_053363
up seq anno feature ids: VSP_053364
up seq anno feature ids: VSP_053365
up seq anno feature ids: VSP_053366

9606:TUSC1
gene id: 9606:TUSC1
uniprot id: Q2TAM9
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Phosphoserine
up seq anno comments: Tumor suppressor candidate gene 1 protein
up seq anno feature ids: PRO_0000312284
up seq anno feature ids: VAR_037471

9606:SLC12A3
gene id: 9606:SLC12A3
uniprot id: P55017
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Abolished interaction with OXSR1/OSR1 and STK39/SPAK, preventing phosphorylation and activation.
up seq anno comments: Abolished sodium and chloride ion cotransporter activity.
up seq anno comments: Cytoplasmic
up seq anno comments: Decreased phosphorylation by OXSR1/OSR1 and STK39/SPAK.
up seq anno comments: Discontinuously helical
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In GTLMNS.
up seq anno comments: In GTLMNS; 27% residual Na(+) uptake activity; increased MAPK1/3 (ERK1/2) phosphorylation in response to IL18; no effect on localization at the plasma membrane.
up seq anno comments: In GTLMNS; 40% residual Na(+) uptake activity; increased MAPK1/3 (ERK1/2) phosphorylation in response to IL18; no effect on localization at the plasma membrane.
up seq anno comments: In GTLMNS; 48% residual Na(+) uptake activity; no effect on localization at the plasma membrane.
up seq anno comments: In GTLMNS; 54% residual Na(+) uptake activity; no effect on localization at the plasma membrane.
up seq anno comments: In GTLMNS; 58% residual Na(+) uptake activity; decreased MAPK1/3 (ERK1/2) phosphorylation in response to IL18; partial loss of localization at the plasma membrane.
up seq anno comments: In GTLMNS; 68% residual Na(+) uptake activity; partial loss of localization at the plasma membrane.
up seq anno comments: In GTLMNS; associated with T-192.
up seq anno comments: In GTLMNS; associated with deletion of N-566.
up seq anno comments: In GTLMNS; complete loss Na(+) uptake activity; partial loss of localization at the plasma membrane.
up seq anno comments: In GTLMNS; does not affect MAPK1/3 (ERK1/2) phosphorylation in response to IL18.
up seq anno comments: In GTLMNS; impaired protein structure.
up seq anno comments: In GTLMNS; unknown pathological significance.
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: Increases sodium transport.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by OXSR1 and STK39
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by OXSR1 and STK39
up seq anno comments: Reduced sensitivity to thiazide diuretics.
up seq anno comments: Reduced sensitivity to thiazide diuretics. Reduced sodium and chloride ion cotransporter activity.
up seq anno comments: Reduced sodium and chloride ion cotransporter activity.
up seq anno comments: Solute carrier family 12 member 3
up seq anno comments: Strongly reduced sodium and chloride ion cotransporter activity.
up seq anno feature ids: PRO_0000178026
up seq anno feature ids: VAR_007113
up seq anno feature ids: VAR_007114
up seq anno feature ids: VAR_007115
up seq anno feature ids: VAR_007116
up seq anno feature ids: VAR_007117
up seq anno feature ids: VAR_007118
up seq anno feature ids: VAR_007119
up seq anno feature ids: VAR_007120
up seq anno feature ids: VAR_007121

9606:TRMT61B
gene id: 9606:TRMT61B
uniprot id: Q9BVS5
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Loss of ability to catalyze the formation of 1-methyladenosine at position 947 of mitochondrial 16S ribosomal RNA.
up seq anno comments: Mitochondrion
up seq anno comments: Polar residues
up seq anno comments: Substrate
up seq anno comments: tRNA (adenine(58)-N(1))-methyltransferase, mitochondrial
up seq anno feature ids: PRO_0000311814

9606:SDR42E1
gene id: 9606:SDR42E1
uniprot id: Q8WUS8
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: Proton acceptor
up seq anno comments: Short-chain dehydrogenase/reductase family 42E member 1
up seq anno feature ids: PRO_0000331754
up seq anno feature ids: VAR_055344
up seq anno feature ids: VAR_055345
up seq anno feature ids: VAR_055346

9606:SORCS2
gene id: 9606:SORCS2
uniprot id: Q96PQ0
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Abolishes generation of the 104 kDa chain.
up seq anno comments: BNR 1
up seq anno comments: BNR 2
up seq anno comments: BNR 3
up seq anno comments: BNR 4
up seq anno comments: BNR 5
up seq anno comments: BNR 6
up seq anno comments: Cleavage
up seq anno comments: Cytoplasmic
up seq anno comments: Decreased proteolytic processing; when associated with 116-A--A-119.
up seq anno comments: Decreased proteolytic processing; when associated with 66-A--A-69.
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: PKD
up seq anno comments: Pro residues
up seq anno comments: SorCS2 104 kDa chain
up seq anno comments: SorCS2 122 kDa chain
up seq anno comments: SorCS2 18 kDa chain
up seq anno comments: Strongly increases generation of the 104 kDa chain.
up seq anno comments: VPS10 domain-containing receptor SorCS2
up seq anno feature ids: PRO_0000033172
up seq anno feature ids: PRO_0000447469
up seq anno feature ids: PRO_0000447470
up seq anno feature ids: PRO_0000447471
up seq anno feature ids: VAR_060109
up seq anno feature ids: VAR_060110
up seq anno feature ids: VAR_060111

9606:MYO15B
gene id: 9606:MYO15B
uniprot id: Q96JP2
uniprot id: Q9H614
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: FERM
up seq anno comments: IQ
up seq anno comments: MyTH4
up seq anno comments: Myosin motor
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: SH3
up seq anno comments: Unconventional myosin-XVB
up seq anno feature ids: PRO_0000292047
up seq anno feature ids: VAR_080141

9606:ZNF471
gene id: 9606:ZNF471
uniprot id: Q9BX82
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 12
up seq anno comments: C2H2-type 13
up seq anno comments: C2H2-type 14
up seq anno comments: C2H2-type 15
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 471
up seq anno feature ids: PRO_0000047603
up seq anno feature ids: VAR_035583
up seq anno feature ids: VAR_052836
up seq anno feature ids: VAR_052837
up seq anno feature ids: VAR_052838
up seq anno feature ids: VAR_061951
up seq anno feature ids: VSP_055955
up seq anno feature ids: VSP_055956

9606:CACNA2D2
gene id: 9606:CACNA2D2
uniprot id: Q9NY47
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cache
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Found in a patient with progressive myoclonus epilepsy and developmental delay; unknown pathological significance.
up seq anno comments: Helical
up seq anno comments: In CASVDD; impaired regulation of current density and inactivation kinetics of N- and L-type calcium channels.
up seq anno comments: In CASVDD; unknown pathological significance.
up seq anno comments: In isoform 2, isoform 3 and isoform 4.
up seq anno comments: In isoform 3, isoform 4 and isoform 5.
up seq anno comments: In isoform 4.
up seq anno comments: Interchain (between alpha-2-2 and delta-2 chains)
up seq anno comments: MIDAS-like motif
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Pro residues
up seq anno comments: VWFA
up seq anno comments: Voltage-dependent calcium channel subunit alpha-2-2
up seq anno comments: Voltage-dependent calcium channel subunit alpha-2/delta-2
up seq anno comments: Voltage-dependent calcium channel subunit delta-2
up seq anno feature ids: PRO_0000304637
up seq anno feature ids: PRO_0000304638
up seq anno feature ids: PRO_0000304639
up seq anno feature ids: VAR_035048
up seq anno feature ids: VAR_057782
up seq anno feature ids: VAR_083105
up seq anno feature ids: VAR_083106
up seq anno feature ids: VAR_083107
up seq anno feature ids: VAR_085040
up seq anno feature ids: VSP_028058
up seq anno feature ids: VSP_028059
up seq anno feature ids: VSP_028060

9606:SV2B
gene id: 9606:SV2B
uniprot id: Q7L1I2
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Synaptic vesicle glycoprotein 2B
up seq anno feature ids: PRO_0000239768
up seq anno feature ids: VSP_045194

9606:LYPD3
gene id: 9606:LYPD3
uniprot id: B2RBR3
uniprot id: O95274
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Lipid Binding
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: GPI-anchor amidated cysteine
up seq anno comments: Ly6/PLAUR domain-containing protein 3
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: Removed in mature form
up seq anno comments: UPAR/Ly6
up seq anno comments: UPAR/Ly6 1
up seq anno comments: UPAR/Ly6 2
up seq anno feature ids: PRO_0000226751
up seq anno feature ids: PRO_0000226752
up seq anno feature ids: PRO_5014298298

9606:LRFN5
gene id: 9606:LRFN5
uniprot id: G3V364
uniprot id: Q96NI6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Fibronectin type-III
up seq anno comments: Helical
up seq anno comments: Ig-like
up seq anno comments: LRR 1
up seq anno comments: LRR 2
up seq anno comments: LRR 3
up seq anno comments: LRR 4
up seq anno comments: LRR 5
up seq anno comments: LRR 6
up seq anno comments: LRR 7
up seq anno comments: LRRCT
up seq anno comments: LRRNT
up seq anno comments: Leucine-rich repeat and fibronectin type-III domain-containing protein 5
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000014845
up seq anno feature ids: PRO_5003457118

9606:FLYWCH1
gene id: 9606:FLYWCH1
uniprot id: Q4VC44
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: FLYWCH-type 1
up seq anno comments: FLYWCH-type 2
up seq anno comments: FLYWCH-type 3
up seq anno comments: FLYWCH-type 4
up seq anno comments: FLYWCH-type 5
up seq anno comments: FLYWCH-type zinc finger-containing protein 1
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000314460
up seq anno feature ids: VSP_030277
up seq anno feature ids: VSP_030278
up seq anno feature ids: VSP_030279
up seq anno feature ids: VSP_030280
up seq anno feature ids: VSP_030281

9606:CHAF1A
gene id: 9606:CHAF1A
uniprot id: Q13111
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Abolishes interaction with CBX5; when associated with E-240.
up seq anno comments: Abolishes interaction with CBX5; when associated with E-242.
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Binds to CBX1 chromo shadow domain
up seq anno comments: Binds to PCNA
up seq anno comments: Binds to p60
up seq anno comments: Chromatin assembly factor 1 subunit A
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Necessary for homodimerization and competence for chromatin assembly
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: PxVxL motif
up seq anno feature ids: PRO_0000089276
up seq anno feature ids: VAR_055329
up seq anno feature ids: VAR_055330
up seq anno feature ids: VAR_055331
up seq anno feature ids: VAR_055332
up seq anno feature ids: VAR_055333
up seq anno feature ids: VSP_004149
up seq anno feature ids: VSP_004150
up seq anno feature ids: VSP_004151

9606:TMEM64
gene id: 9606:TMEM64
uniprot id: Q6YI46
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: In isoform 3.
up seq anno comments: Transmembrane protein 64
up seq anno comments: VTT domain
up seq anno feature ids: PRO_0000287342
up seq anno feature ids: VSP_025441
up seq anno feature ids: VSP_025442
up seq anno feature ids: VSP_044998
up seq anno feature ids: VSP_044999

9606:HSD17B14
gene id: 9606:HSD17B14
uniprot id: Q9BPX1
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 17-beta-hydroxysteroid dehydrogenase 14
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000054654
up seq anno feature ids: VAR_052307
up seq anno feature ids: VAR_052308

9606:IGFN1
gene id: 9606:IGFN1
uniprot id: Q86VF2
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Fibronectin type-III 1
up seq anno comments: Fibronectin type-III 2
up seq anno comments: Fibronectin type-III 3
up seq anno comments: Fibronectin type-III 4
up seq anno comments: Ig-like 1
up seq anno comments: Ig-like 2
up seq anno comments: Ig-like 3
up seq anno comments: Ig-like 4
up seq anno comments: Ig-like 5
up seq anno comments: Immunoglobulin-like and fibronectin type III domain-containing protein 1
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000347186
up seq anno feature ids: VAR_046035
up seq anno feature ids: VAR_046036
up seq anno feature ids: VSP_035055
up seq anno feature ids: VSP_035056
up seq anno feature ids: VSP_035057
up seq anno feature ids: VSP_035058
up seq anno feature ids: VSP_035059
up seq anno feature ids: VSP_035060
up seq anno feature ids: VSP_045740

9606:KLHL24
gene id: 9606:KLHL24
uniprot id: Q6TFL4
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Mutagenesis Site
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: BACK
up seq anno comments: BTB
up seq anno comments: In CMH29; loss-of-function variant unable to rescue heart defects and cardiac failure in zebrafish morphants.
up seq anno comments: In isoform 2.
up seq anno comments: Increased protein stability.
up seq anno comments: Kelch 1
up seq anno comments: Kelch 2
up seq anno comments: Kelch 3
up seq anno comments: Kelch 4
up seq anno comments: Kelch 5
up seq anno comments: Kelch 6
up seq anno comments: Kelch-like protein 24
up seq anno comments: Weak interaction with CUL3. Weak autoubiquitination.
up seq anno feature ids: PRO_0000261594
up seq anno feature ids: VAR_088094
up seq anno feature ids: VAR_088095
up seq anno feature ids: VSP_028644
up seq anno feature ids: VSP_028645

9606:MRGPRE
gene id: 9606:MRGPRE
uniprot id: Q86SM8
uniprot id: W4VSQ4
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: Mas-related G-protein coupled receptor member E
up seq anno feature ids: PRO_0000069760
up seq anno feature ids: VAR_059325
up seq anno feature ids: VAR_059326

9606:TMPRSS3
gene id: 9606:TMPRSS3
uniprot id: P57727
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Charge relay system
up seq anno comments: Cleavage
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Fails to undergo proteolytic cleavage and is unable to activate ENaC.
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In DFNB8.
up seq anno comments: In DFNB8; fails to undergo proteolytic cleavage and is unable to activate ENaC.
up seq anno comments: In isoform 6.
up seq anno comments: In isoform B.
up seq anno comments: In isoform D.
up seq anno comments: In isoform E.
up seq anno comments: In isoform T.
up seq anno comments: LDL-receptor class A
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Peptidase S1
up seq anno comments: SRCR
up seq anno comments: Transmembrane protease serine 3
up seq anno feature ids: PRO_0000088690
up seq anno feature ids: VAR_010781
up seq anno feature ids: VAR_011678
up seq anno feature ids: VAR_011679
up seq anno feature ids: VAR_013101
up seq anno feature ids: VAR_013490
up seq anno feature ids: VAR_013491
up seq anno feature ids: VAR_013492
up seq anno feature ids: VAR_013493
up seq anno feature ids: VAR_013494
up seq anno feature ids: VAR_013495
up seq anno feature ids: VAR_013496
up seq anno feature ids: VAR_025354
up seq anno feature ids: VSP_005391
up seq anno feature ids: VSP_005392
up seq anno feature ids: VSP_005393
up seq anno feature ids: VSP_005394
up seq anno feature ids: VSP_013184
up seq anno feature ids: VSP_047695

9606:ADAM20
gene id: 9606:ADAM20
uniprot id: A0A494C0E3
uniprot id: O43506
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Motif
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cysteine switch
up seq anno comments: Cytoplasmic
up seq anno comments: Disintegrin
up seq anno comments: Disintegrin and metalloproteinase domain-containing protein 20
up seq anno comments: Disordered
up seq anno comments: EGF-like
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Peptidase M12B
up seq anno comments: Polar residues
up seq anno comments: in inhibited form
up seq anno feature ids: PRO_0000029106
up seq anno feature ids: PRO_0000029107
up seq anno feature ids: VAR_047311

9606:SARS2
gene id: 9606:SARS2
uniprot id: Q9NP81
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: In HUPRAS.
up seq anno comments: In isoform 2.
up seq anno comments: Mitochondrion
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-succinyllysine
up seq anno comments: Serine--tRNA ligase, mitochondrial
up seq anno feature ids: PRO_0000035822
up seq anno feature ids: VAR_052645
up seq anno feature ids: VAR_052646
up seq anno feature ids: VAR_065820
up seq anno feature ids: VSP_043020

9606:ARHGAP11B
gene id: 9606:ARHGAP11B
uniprot id: Q3KRB8
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Transit Peptide
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Transit Peptide
up seq anno comments: Inactive Rho GTPase-activating protein 11B
up seq anno comments: Mitochondrion
up seq anno comments: Rho-GAP
up seq anno feature ids: PRO_0000317291

9606:SLC25A18
gene id: 9606:SLC25A18
uniprot id: Q9H1K4
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Mitochondrial glutamate carrier 2
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Solcar 1
up seq anno comments: Solcar 2
up seq anno comments: Solcar 3
up seq anno feature ids: PRO_0000090621

9606:OR10H3
gene id: 9606:OR10H3
uniprot id: A0A126GW93
uniprot id: O60404
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: Olfactory receptor 10H3
up seq anno feature ids: PRO_0000150704
up seq anno feature ids: VAR_020381
up seq anno feature ids: VAR_020382
up seq anno feature ids: VAR_024128
up seq anno feature ids: VAR_034288
up seq anno feature ids: VAR_034289

9606:HELB
gene id: 9606:HELB
uniprot id: Q8NG08
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Accumulation in the nucleus due to defects in nuclear export.
up seq anno comments: Basic and acidic residues
up seq anno comments: DNA helicase B
up seq anno comments: Disordered
up seq anno comments: Does not affect subcellular location.
up seq anno comments: Impaired phosphorylation, inducing accumulation in the nucleus.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of RPA1-binding, leading to impaired recruitment to sites of double-strand breaks; when associated with A-499 and A-506.
up seq anno comments: Loss of RPA1-binding, leading to impaired recruitment to sites of double-strand breaks; when associated with A-499 and A-510.
up seq anno comments: Loss of RPA1-binding, leading to impaired recruitment to sites of double-strand breaks; when associated with A-506 and A-510.
up seq anno comments: No ATPase activity.
up seq anno comments: Nuclear export signal
up seq anno comments: Phosphomimetic mutant; leads to higher localization to the cytoplasm.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CDK2
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000338992
up seq anno feature ids: VAR_043855
up seq anno feature ids: VAR_043856
up seq anno feature ids: VAR_043857
up seq anno feature ids: VAR_043858
up seq anno feature ids: VAR_043859
up seq anno feature ids: VAR_061665
up seq anno feature ids: VSP_034086
up seq anno feature ids: VSP_034087

9606:DEFB4B
gene id: 9606:DEFB4B
uniprot id: O15263
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Peptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno labels: Disulfide Bond
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Peptide
up seq anno labels: Region
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno comments: Defensin beta 4A
up seq anno comments: Loss of PIP2 binding and loss of liposomal lysis activity. Decrease in fungal cell permeabilization. Impaired antifungal activity.
up seq anno comments: Loss of PIP2 binding and reduced liposomal lysis activity. Impaired antifungal activity. Decrease in fungal cell permeabilization.
up seq anno comments: No impact on PIP binding and liposomal lysis activity. Lack of antifungal activity. Lack of fungal cell permeabilization.
up seq anno comments: No impact on fungal cell permeabilization. Impaired antifungal activity.
up seq anno comments: No impact on fungal cell permeabilization. No impact on antifungal activity.
up seq anno comments: Phosphatidylinositol 4,5-bisphosphate (PIP2) binding
up seq anno feature ids: PRO_0000006968

9606:USP17L17
gene id: 9606:USP17L17
uniprot id: D6RBQ6
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Site
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno comments: Disordered
up seq anno comments: Nucleophile
up seq anno comments: Polar residues
up seq anno comments: Proton acceptor
up seq anno comments: USP
up seq anno comments: Ubiquitin carboxyl-terminal hydrolase 17-like protein 17
up seq anno feature ids: PRO_0000421091

9606:ASB15
gene id: 9606:ASB15
uniprot id: A0A384NYV2
uniprot id: Q8WXK1
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: ANK
up seq anno comments: ANK 1
up seq anno comments: ANK 2
up seq anno comments: ANK 3
up seq anno comments: ANK 4
up seq anno comments: ANK 5
up seq anno comments: ANK 6
up seq anno comments: ANK 7
up seq anno comments: ANK 8
up seq anno comments: ANK 9
up seq anno comments: Ankyrin repeat and SOCS box protein 15
up seq anno comments: SOCS box
up seq anno feature ids: PRO_0000066954
up seq anno feature ids: VAR_060466
up seq anno feature ids: VAR_060467

9606:SLC49A3
gene id: 9606:SLC49A3
uniprot id: Q6UXD7
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Solute carrier family 49 member A3
up seq anno feature ids: PRO_0000273408
up seq anno feature ids: VAR_030144
up seq anno feature ids: VSP_022547
up seq anno feature ids: VSP_022548
up seq anno feature ids: VSP_022549

9606:DR1
gene id: 9606:DR1
uniprot id: Q01658
uniprot id: Q658N3
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno comments: Disordered
up seq anno comments: Histone-fold
up seq anno comments: N-acetylalanine
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Protein Dr1
up seq anno comments: Removed
up seq anno comments: Transcription factor CBF/NF-Y/archaeal histone
up seq anno feature ids: PRO_0000072440
up seq anno feature ids: VAR_034506

9606:BATF3
gene id: 9606:BATF3
uniprot id: Q9NR55
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic leucine zipper transcriptional factor ATF-like 3
up seq anno comments: Basic motif
up seq anno comments: Disordered
up seq anno comments: Leucine-zipper
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: bZIP
up seq anno feature ids: PRO_0000326106
up seq anno feature ids: VAR_039988

9606:JAKMIP2
gene id: 9606:JAKMIP2
uniprot id: Q96AA8
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 2, isoform 3 and isoform 4.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 4.
up seq anno comments: Janus kinase and microtubule-interacting protein 2
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000050762
up seq anno feature ids: VAR_022059
up seq anno feature ids: VAR_035930
up seq anno feature ids: VSP_002430
up seq anno feature ids: VSP_028230
up seq anno feature ids: VSP_055264

9606:PIP
gene id: 9606:PIP
uniprot id: P12273
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Prolactin-inducible protein
up seq anno comments: Pyrrolidone carboxylic acid
up seq anno feature ids: PRO_0000024288

9606:LBX2
gene id: 9606:LBX2
uniprot id: Q6XYB7
up seq anno parent labels: Chain
up seq anno parent labels: DNA Binding
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: DNA Binding
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: Found in a patient with atrial septal defects; unknown pathological significance.
up seq anno comments: Homeobox
up seq anno comments: In isoform 2.
up seq anno comments: Transcription factor LBX2
up seq anno feature ids: PRO_0000311328
up seq anno feature ids: VAR_037227
up seq anno feature ids: VAR_083939
up seq anno feature ids: VAR_083940
up seq anno feature ids: VSP_029522

9606:TMEM47
gene id: 9606:TMEM47
uniprot id: Q9BQJ4
up seq anno parent labels: Chain
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: N-acetylalanine
up seq anno comments: Removed
up seq anno comments: Transmembrane protein 47
up seq anno feature ids: PRO_0000072573

9606:PTPRCAP
gene id: 9606:PTPRCAP
uniprot id: Q14761
up seq anno parent labels: Chain
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: Phosphoserine
up seq anno comments: Protein tyrosine phosphatase receptor type C-associated protein
up seq anno feature ids: PRO_0000097087
up seq anno feature ids: VAR_061698

9606:WFDC13
gene id: 9606:WFDC13
uniprot id: Q8IUB5
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Signal Peptide
up seq anno comments: WAP four-disulfide core domain protein 13
up seq anno comments: WAP; atypical
up seq anno feature ids: PRO_0000041393

9606:TRIM49D2
gene id: 9606:TRIM49D2
uniprot id: C9J1S8
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Zinc Finger
up seq anno comments: B box-type
up seq anno comments: B30.2/SPRY
up seq anno comments: RING-type
up seq anno comments: Tripartite motif-containing protein 49D
up seq anno feature ids: PRO_0000395402

9606:ESR1
gene id: 9606:ESR1
uniprot id: A0A125SXW3
uniprot id: A8KAF4
uniprot id: G4XH65
uniprot id: H0Y4W6
uniprot id: P03372
uniprot id: Q9UBT1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Abolishes interaction with NCOA1, NCOA2 and NCOA3.
up seq anno comments: Asymmetric dimethylarginine; by PRMT1
up seq anno comments: Decreases phosphorylation and transactivation activity. Abolishes AF-1 transactivation. Insensitive to PPP5C inhibition of transactivation activity.
up seq anno comments: Destabilizes the receptor and decreases its affinity for estradiol at 25 degrees Celsius, but not at 4 degrees Celsius.
up seq anno comments: Disordered
up seq anno comments: Enhances transactivation activity. Insensitive to PPP5C inhibition of transactivation activity.
up seq anno comments: Estrogen receptor
up seq anno comments: Has higher transcriptional activity in the absence of wild type ER. Inhibits transcriptional activity when coexpressed with the wild type receptor.
up seq anno comments: Hinge
up seq anno comments: Impairs AF-1 transactivation.
up seq anno comments: In ESTRR; highly decreased estrogen receptor activity.
up seq anno comments: In ESTRR; results in highly reduced activity.
up seq anno comments: In a 80 kDa form found in a breast cancer line; contains an in-frame duplication of exons 6 and 7.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: In isoform 4.
up seq anno comments: Interaction with AKAP13
up seq anno comments: Interaction with DDX5; self-association
up seq anno comments: Loss of cyclin A-dependent induction of transcriptional activation.
up seq anno comments: Loss of hormone binding capacity and temperature-sensitive loss in DNA-binding.
up seq anno comments: Loss of methylation.
up seq anno comments: Loss of transmembrane localization, no effect on peripheral membrane localization. Impairs activation of estrogen-induced activation of NOS3 and production of nitric oxide. No effect on binding to ERES.
up seq anno comments: Mediates interaction with DNTTIP2
up seq anno comments: Modulating (transactivation AF-1); mediates interaction with MACROD1
up seq anno comments: NR C4-type
up seq anno comments: NR LBD
up seq anno comments: Nuclear receptor
up seq anno comments: O-linked (GlcNAc) serine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CDK2
up seq anno comments: Phosphoserine; by CK2
up seq anno comments: Phosphotyrosine; by Tyr-kinases
up seq anno comments: Polar residues

9606:CCDC68
gene id: 9606:CCDC68
uniprot id: Q9H2F9
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Sequence Variant
up seq anno comments: Coiled-coil domain-containing protein 68
up seq anno feature ids: PRO_0000264611
up seq anno feature ids: VAR_050762

9606:SLC6A9
gene id: 9606:SLC6A9
uniprot id: B7Z3W8
uniprot id: B7Z589
uniprot id: P48067
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Essential for interaction with EXOC1
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=10
up seq anno comments: Helical; Name=11
up seq anno comments: Helical; Name=12
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: Helical; Name=8
up seq anno comments: Helical; Name=9
up seq anno comments: In GCENSG.
up seq anno comments: In isoform GlyT-1A.
up seq anno comments: In isoform GlyT-1B.
up seq anno comments: Phosphoserine
up seq anno comments: Sodium- and chloride-dependent glycine transporter 1
up seq anno feature ids: PRO_0000214780
up seq anno feature ids: VAR_078074
up seq anno feature ids: VSP_006270
up seq anno feature ids: VSP_006271

9606:MZT1
gene id: 9606:MZT1
uniprot id: Q08AG7
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Turn
up seq anno comments: Mitotic-spindle organizing protein 1
up seq anno comments: N-acetylalanine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000337015
up seq anno feature ids: VAR_043562

9606:CIB2
gene id: 9606:CIB2
uniprot id: H0YKC8
uniprot id: O75838
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Mass
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Mass
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Calcium and integrin-binding family member 2
up seq anno comments: EF-hand
up seq anno comments: EF-hand 1
up seq anno comments: EF-hand 2
up seq anno comments: EF-hand 3
up seq anno comments: Found in a family with deafness; unknown pathological significance; the patient also carries a likely disease-causing mutation in PDZD7.
up seq anno comments: In DFNB48.
up seq anno comments: In DFNB48; decreases interaction with TMC1 and TMC2; no loss of localization to stereocilia; does not affect ATP-induced calcium release;.
up seq anno comments: In DFNB48; inhibits the ability to decrease ATP-induced calcium release; ; decreases interaction with TMC1 and TMC2; does not affect the localization in the cuticular plate or to the tip of stereocilia; does not affect binding with WHRN.
up seq anno comments: In DFNB48; inhibits the ability to decrease ATP-induced calcium release; decreases interaction with TMC1 and TMC2.
up seq anno comments: In DFNB48; stimulates the ability to decrease ATP-induced calcium release; decreases interaction with TMC1 and TMC2.
up seq anno comments: In DFNB48; unknown pathological significance.
up seq anno comments: In DFNB48; unknown pathological significance; decreases interaction with TMC1 and TMC2; no loss of localization to stereocilia; does not affect ATP-induced calcium release.
up seq anno comments: In USH1J and DFNB48; decreases interaction with TMC1 and TMC2.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno feature ids: PRO_0000073534
up seq anno feature ids: VAR_069086
up seq anno feature ids: VAR_069087
up seq anno feature ids: VAR_069088
up seq anno feature ids: VAR_069089
up seq anno feature ids: VAR_074552
up seq anno feature ids: VAR_077559
up seq anno feature ids: VAR_080825
up seq anno feature ids: VAR_087038
up seq anno feature ids: VAR_087039
up seq anno feature ids: VSP_053863
up seq anno feature ids: VSP_053864
up seq anno feature ids: VSP_054777

9606:DENND3
gene id: 9606:DENND3
uniprot id: A2RUS2
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: DENN domain-containing protein 3
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Linker
up seq anno comments: Phosphoserine; by ULK1
up seq anno comments: Phosphotyrosine
up seq anno comments: WD 1
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno comments: WD 7
up seq anno comments: cDENN
up seq anno comments: dDENN
up seq anno comments: uDENN
up seq anno feature ids: PRO_0000304672
up seq anno feature ids: VAR_035053
up seq anno feature ids: VAR_035054
up seq anno feature ids: VSP_028075
up seq anno feature ids: VSP_028077
up seq anno feature ids: VSP_028078
up seq anno feature ids: VSP_028080
up seq anno feature ids: VSP_028081

9606:WHRN
gene id: 9606:WHRN
uniprot id: B9EGE6
uniprot id: Q9P202
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: PDZ
up seq anno comments: PDZ 1
up seq anno comments: PDZ 2
up seq anno comments: PDZ 3
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Whirlin
up seq anno feature ids: PRO_0000065968
up seq anno feature ids: VAR_020593
up seq anno feature ids: VAR_020594
up seq anno feature ids: VAR_020595
up seq anno feature ids: VAR_020596
up seq anno feature ids: VAR_036684
up seq anno feature ids: VAR_036685
up seq anno feature ids: VAR_036686
up seq anno feature ids: VAR_036687
up seq anno feature ids: VAR_036688
up seq anno feature ids: VAR_057029
up seq anno feature ids: VSP_012216
up seq anno feature ids: VSP_012217
up seq anno feature ids: VSP_012218
up seq anno feature ids: VSP_012219
up seq anno feature ids: VSP_012220

9606:MAP2K5
gene id: 9606:MAP2K5
uniprot id: Q13163
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: Dual specificity mitogen-activated protein kinase kinase 5
up seq anno comments: In isoform 4.
up seq anno comments: In isoform A and isoform C.
up seq anno comments: In isoform C.
up seq anno comments: Inactivation.
up seq anno comments: Interaction with MAP3K2/MAP3K3
up seq anno comments: Interaction with MAPK7
up seq anno comments: PB1
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000086383
up seq anno feature ids: VAR_040823
up seq anno feature ids: VAR_040824
up seq anno feature ids: VAR_046070
up seq anno feature ids: VSP_021825
up seq anno feature ids: VSP_021826
up seq anno feature ids: VSP_043333

9606:GAPDH
gene id: 9606:GAPDH
uniprot id: P04406
uniprot id: V9HVZ4
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: (Microbial infection) N-beta-linked (GlcNAc) arginine
up seq anno comments: ADP-ribosylcysteine; by autocatalysis; in irreversibly inhibited form
up seq anno comments: Activates thiol group during catalysis
up seq anno comments: Cysteine persulfide
up seq anno comments: Deamidated asparagine
up seq anno comments: Does not affect glycosylation by C.rodentium protein NleB.
up seq anno comments: Drastic reduction of the extent and significant prolongation of the lag phase of free radical-induced aggregation.
up seq anno comments: Glyceraldehyde 3-phosphate dehydrogenase NAD(P) binding
up seq anno comments: Glyceraldehyde-3-phosphate dehydrogenase
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: Increased free radical-induced aggregation.
up seq anno comments: Increased resistance to free radical-induced aggregation.
up seq anno comments: Inhibits S-nitrosylation of Cys-247; when associated with M-245.
up seq anno comments: Inhibits S-nitrosylation of Cys-247; when associated with M-250.
up seq anno comments: Interaction with WARS1
up seq anno comments: Markedly reduced glycolytic activity; when associated with S-152 and S-156. Forms free radical-induced aggregates, but to a lesser extent than wild-type protein; when associated with S-156 and S-247.
up seq anno comments: Markedly reduced glycolytic activity; when associated with S-152 and S-247. Forms free radical-induced aggregates, but to a lesser extent than wild-type protein; when associated with S-156 and S-247.
up seq anno comments: Markedly reduced glycolytic activity; when associated with S-156 and S-247. Forms free radical-induced aggregates, but to a lesser extent than wild-type protein; when associated with S-156 and S-247. Abolished interaction with TRAF2 and TRAF3.
up seq anno comments: Methionine sulfoxide; in vitro
up seq anno comments: N6,N6-dimethyllysine
up seq anno comments: N6,N6-dimethyllysine; alternate
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-malonyllysine; alternate
up seq anno comments: No effect on free radical-induced aggregation.
up seq anno comments: Nucleophile
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Removed
up seq anno comments: S-(2-succinyl)cysteine
up seq anno comments: S-nitrosocysteine
up seq anno comments: S-nitrosocysteine; in reversibly inhibited form
up seq anno comments: [IL]-x-C-x-x-[DE] motif
up seq anno feature ids: PRO_0000145486

9606:LIX1
gene id: 9606:LIX1
uniprot id: Q8N485
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno comments: Protein limb expression 1 homolog
up seq anno feature ids: PRO_0000232869
up seq anno feature ids: VAR_026039

9606:CLVS2
gene id: 9606:CLVS2
uniprot id: Q5SYC1
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno comments: CRAL-TRIO
up seq anno comments: Clavesin-2
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000297651
up seq anno feature ids: VSP_027325

9606:NDUFB5
gene id: 9606:NDUFB5
uniprot id: A0A087WYD0
uniprot id: O43674
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transit Peptide
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Mitochondrion
up seq anno comments: NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 5, mitochondrial
up seq anno feature ids: PRO_0000020052
up seq anno feature ids: VAR_050590
up seq anno feature ids: VSP_042516

9606:AIRIM
gene id: 9606:AIRIM
uniprot id: Q9NX04
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Mutagenesis Site
up seq anno labels: Splice Variant
up seq anno comments: AFG2-interacting ribosome maturation factor
up seq anno comments: Abolishes phosphorylation by CK2 kinase; when associated with A-104 and A-134.
up seq anno comments: Abolishes phosphorylation by CK2 kinase; when associated with A-104 and A-182.
up seq anno comments: Abolishes phosphorylation by CK2 kinase; when associated with A-134 and A-182.
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000274382
up seq anno feature ids: VSP_022733
up seq anno feature ids: VSP_022734

9606:LACRT
gene id: 9606:LACRT
uniprot id: Q9GZZ8
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Signal Peptide
up seq anno comments: Disordered
up seq anno comments: Extracellular glycoprotein lacritin
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000021574

9606:WWP2
gene id: 9606:WWP2
uniprot id: B4DHF6
uniprot id: O00308
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes ubiquitination of POU5F1.
up seq anno comments: C2
up seq anno comments: Disordered
up seq anno comments: Does not affect FBXL15-mediated ubiquitination.
up seq anno comments: Glycyl thioester intermediate
up seq anno comments: HECT
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: NEDD4-like E3 ubiquitin-protein ligase WWP2
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: WW
up seq anno comments: WW 1
up seq anno comments: WW 2
up seq anno comments: WW 3
up seq anno comments: WW 4
up seq anno feature ids: PRO_0000120338
up seq anno feature ids: VSP_044706
up seq anno feature ids: VSP_046461
up seq anno feature ids: VSP_054711

9606:SORCS1
gene id: 9606:SORCS1
uniprot id: A8K182
uniprot id: B3KVZ0
uniprot id: B3KWN9
uniprot id: E6Y3F9
uniprot id: E6Y3G0
uniprot id: Q8WY21
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: BNR 1
up seq anno comments: BNR 2
up seq anno comments: BNR 3
up seq anno comments: BNR 4
up seq anno comments: BNR 5
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: O-linked (GalNAc...) threonine
up seq anno comments: PKD
up seq anno comments: Polar residues
up seq anno comments: VPS10 domain-containing receptor SorCS1
up seq anno feature ids: PRO_0000033170
up seq anno feature ids: PRO_5002788691
up seq anno feature ids: PRO_5003213743
up seq anno feature ids: PRO_5003215858
up seq anno feature ids: PRO_5010104052
up seq anno feature ids: VAR_036374
up seq anno feature ids: VSP_006204
up seq anno feature ids: VSP_015140
up seq anno feature ids: VSP_015141

9606:PARVA
gene id: 9606:PARVA
uniprot id: Q9NVD7
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Turn
up seq anno comments: Alpha-parvin
up seq anno comments: Calponin-homology (CH) 1
up seq anno comments: Calponin-homology (CH) 2
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with ARHGAP31
up seq anno comments: Loss of interaction with TESK1, however no effect on interaction with ILK; when associated with D-4.
up seq anno comments: Loss of interaction with TESK1, however no effect on interaction with ILK; when associated with D-8.
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno comments: Required for interaction with TESK1 and ILK
up seq anno feature ids: PRO_0000121580
up seq anno feature ids: VSP_008884
up seq anno feature ids: VSP_008885

9606:ALDH1A2
gene id: 9606:ALDH1A2
uniprot id: O94788
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: In DIH4; decreased expression.
up seq anno comments: In DIH4; decreased retinoic acid biosynthetic process.
up seq anno comments: In DIH4; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Nucleophile
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Proton acceptor
up seq anno comments: Retinal dehydrogenase 2
up seq anno comments: Transition state stabilizer
up seq anno feature ids: PRO_0000056422
up seq anno feature ids: VAR_025439
up seq anno feature ids: VAR_025440
up seq anno feature ids: VAR_025441
up seq anno feature ids: VAR_025442
up seq anno feature ids: VAR_087721
up seq anno feature ids: VAR_087722
up seq anno feature ids: VAR_087723
up seq anno feature ids: VAR_087724
up seq anno feature ids: VSP_017363
up seq anno feature ids: VSP_044496
up seq anno feature ids: VSP_047259

9606:IQSEC2
gene id: 9606:IQSEC2
uniprot id: Q5JU85
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Disordered
up seq anno comments: IQ
up seq anno comments: IQ motif and SEC7 domain-containing protein 2
up seq anno comments: In XLID1.
up seq anno comments: In XLID1; decreased guanine nucleotide exchange factor activity.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: SEC7
up seq anno feature ids: PRO_0000245608
up seq anno feature ids: VAR_063742
up seq anno feature ids: VAR_063743
up seq anno feature ids: VAR_063744
up seq anno feature ids: VAR_063745
up seq anno feature ids: VAR_078260
up seq anno feature ids: VSP_041372
up seq anno feature ids: VSP_041373
up seq anno feature ids: VSP_041374
up seq anno feature ids: VSP_059605
up seq anno feature ids: VSP_059606

9606:HECW2
gene id: 9606:HECW2
uniprot id: A0A2R8Y6F3
uniprot id: Q9P2P5
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: C2
up seq anno comments: Disordered
up seq anno comments: E3 ubiquitin-protein ligase HECW2
up seq anno comments: Glycyl thioester intermediate
up seq anno comments: HECT
up seq anno comments: In NDHSAL.
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with TP73
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: WW
up seq anno comments: WW 1
up seq anno comments: WW 2
up seq anno feature ids: PRO_0000277667
up seq anno feature ids: VAR_077905
up seq anno feature ids: VAR_077906
up seq anno feature ids: VAR_077907
up seq anno feature ids: VAR_077908
up seq anno feature ids: VSP_059106
up seq anno feature ids: VSP_059107
up seq anno feature ids: VSP_059108

9606:KLRC2
gene id: 9606:KLRC2
uniprot id: P26717
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: C-type lectin
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: Impairs the expression of KLRD1-KLRC2 on the cell surface.
up seq anno comments: In allele NKG2-C*02.
up seq anno comments: Increases the affinity for HLA-E to a value similar to that observed for HLA-E-KLRD1-KLRC1 complex.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: NKG2-C type II integral membrane protein
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000046662
up seq anno feature ids: VAR_013404
up seq anno feature ids: VAR_013405

9606:ATP1B3
gene id: 9606:ATP1B3
uniprot id: P54709
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Sodium/potassium-transporting ATPase subunit beta-3
up seq anno comments: immunoglobulin-like
up seq anno feature ids: PRO_0000219108
up seq anno feature ids: VSP_056686
up seq anno feature ids: VSP_056687

9606:PLCB1
gene id: 9606:PLCB1
uniprot id: Q9NQ66
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: C2
up seq anno comments: Disordered
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform B.
up seq anno comments: PI-PLC X-box
up seq anno comments: PI-PLC Y-box
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PKC
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: S-palmitoyl cysteine
up seq anno feature ids: PRO_0000088486
up seq anno feature ids: VAR_036547
up seq anno feature ids: VAR_050541
up seq anno feature ids: VSP_004718

9606:ZNF90
gene id: 9606:ZNF90
uniprot id: Q03938
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 12
up seq anno comments: C2H2-type 13
up seq anno comments: C2H2-type 14
up seq anno comments: C2H2-type 15
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 90
up seq anno feature ids: PRO_0000047399

9606:FAM98C
gene id: 9606:FAM98C
uniprot id: Q17RN3
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Protein FAM98C
up seq anno feature ids: PRO_0000282428
up seq anno feature ids: VAR_049030
up seq anno feature ids: VSP_024142
up seq anno feature ids: VSP_024143

9606:CCDC85B
gene id: 9606:CCDC85B
uniprot id: Q15834
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno comments: Coiled-coil domain-containing protein 85B
up seq anno comments: Disordered
up seq anno comments: Loss of interaction with TCF7L2 and loss of suppression of CTNNB1 activity. Loss of cell growth inhibition.
up seq anno comments: N-acetylmethionine
up seq anno feature ids: PRO_0000079908

9606:TCF12
gene id: 9606:TCF12
uniprot id: F5GY10
uniprot id: Q99081
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Turn
up seq anno comments: 9aaTAD
up seq anno comments: BHLH
up seq anno comments: Basic and acidic residues
up seq anno comments: Class A specific domain
up seq anno comments: Decreases interaction with RUNX1T1.
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In CRS3.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Interaction with RUNX1T1
up seq anno comments: Leucine-zipper
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Transcription factor 12
up seq anno comments: bHLH
up seq anno feature ids: PRO_0000127228
up seq anno feature ids: VAR_049543
up seq anno feature ids: VAR_070096
up seq anno feature ids: VAR_070097
up seq anno feature ids: VAR_072271
up seq anno feature ids: VSP_039109
up seq anno feature ids: VSP_039110
up seq anno feature ids: VSP_040024
up seq anno feature ids: VSP_057419
up seq anno feature ids: VSP_057420

9606:MYOG
gene id: 9606:MYOG
uniprot id: P15173
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno comments: Myogenin
up seq anno comments: Phosphoserine; by CaMK2G
up seq anno comments: Phosphothreonine; by CaMK2G
up seq anno comments: bHLH
up seq anno feature ids: PRO_0000127375

9606:BAP1
gene id: 9606:BAP1
uniprot id: Q92560
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Strand
up seq anno comments: Abolished interaction with FOXK1 and FOXK2.
up seq anno comments: Abolishes enzymatic activity. Has no effect on interaction with HCFC1.
up seq anno comments: Abolishes interaction with BRCA1.
up seq anno comments: Abolishes interaction with HCFC1 without affecting interaction with FOXK1 and FOXK2.
up seq anno comments: Abolishes nuclear localization.
up seq anno comments: Abolishes ubiquitination by UBE2O.
up seq anno comments: Basic residues
up seq anno comments: Disordered
up seq anno comments: Does not affect interaction with FOXK1 and FOXK2.
up seq anno comments: Does not affect nuclear localization.
up seq anno comments: Found in a malignant pleural mesothelioma cell line.
up seq anno comments: Found in a malignant pleural mesothelioma sample.
up seq anno comments: Found in a malignant pleural mesothelioma sample; somatic mutation.
up seq anno comments: Found in a malignant pleural mesothelioma sample; somatic mutation; induces cytoplasmic accumulation; loss of deubiquitinase activity; up-regulates heat shock response; induces formation of amyloid-beta aggregates.
up seq anno comments: Found in a primary uveal melanoma; somatic mutation; induces cytoplasmic accumulation; loss of deubiquitinase activity; up-regulates heat shock response; induces formation of amyloid-beta aggregates.
up seq anno comments: HBM-like motif
up seq anno comments: Important for enzyme activity
up seq anno comments: In KURIS.
up seq anno comments: In KURIS; loss-of-function variant; increased steady-state level of ubiquitinated H2A are found in patient cells; unable to rescue impaired H2AK119ub deubiquitination when expressed in BAP1-deficient cells; abolishes deubiquitinase activity without affecting its ability to interfere with BRCA1 E3 ligase activity; does not affect localization to the nucleus; has a dominant negative effect on cell growth; does not affect interaction with FOXK1 and FOXK2.
up seq anno comments: In KURIS; loss-of-function variant; increased steady-state levels of ubiquitinated H2A are found in patient cells; unable to rescue impaired H2AK119ub deubiquitination when expressed in BAP1-deficient cells; does not affect localization to the nucleus.
up seq anno comments: In KURIS; loss-of-function variant; unable to rescue impaired H2AK119ub deubiquitination when expressed in BAP1-deficient cells; does not affect localization to the nucleus.
up seq anno comments: In KURIS; unknown pathological significance.
up seq anno comments: In KURIS; unknown pathological significance; able to rescue impaired H2AK119ub deubiquitination when expressed in BAP1-deficient cells; does not affect localization to the nucleus.
up seq anno comments: In TPDS1.
up seq anno comments: In TPDS1; significantly increased risk for renal cell carcinoma.
up seq anno comments: In a lung cancer sample; also found in a malignant pleural mesothelioma cell line; induces cytoplasmic accumulation; loss of deubiquitinase activity; up-regulates heat shock response; induces formation of amyloid-beta aggregates.
up seq anno comments: In a lung cancer sample; induces cytoplasmic accumulation; impairs deubiquitinase activity; up-regulates heat shock response; induces formation of beta-amyloid aggregates.
up seq anno comments: Interaction with BRCA1
up seq anno comments: Nuclear localization signal
up seq anno comments: Nucleophile
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Proton donor
up seq anno comments: Ubiquitin carboxyl-terminal hydrolase BAP1
up seq anno feature ids: PRO_0000211069
up seq anno feature ids: VAR_051517
up seq anno feature ids: VAR_063498
up seq anno feature ids: VAR_063499
up seq anno feature ids: VAR_065976
up seq anno feature ids: VAR_065977
up seq anno feature ids: VAR_065978
up seq anno feature ids: VAR_065979
up seq anno feature ids: VAR_065980
up seq anno feature ids: VAR_075251
up seq anno feature ids: VAR_086937
up seq anno feature ids: VAR_086938
up seq anno feature ids: VAR_086939
up seq anno feature ids: VAR_086940

9606:LAMB2
gene id: 9606:LAMB2
uniprot id: P55268
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Disordered
up seq anno comments: Domain I
up seq anno comments: Domain II
up seq anno comments: Domain alpha
up seq anno comments: In NPHS5.
up seq anno comments: In NPHS5; unknown pathological significance.
up seq anno comments: In PIERS and NPHS5; with mild ocular abnormalities.
up seq anno comments: In PIERS and NPHS5; with mild ocular abnormalities; associated with F-1393.
up seq anno comments: In PIERS and NPHS5; with mild ocular abnormalities; associated with K-1380.
up seq anno comments: In PIERS.
up seq anno comments: In PIERS; without ocular abnormalities.
up seq anno comments: Interchain
up seq anno comments: Laminin EGF-like 1
up seq anno comments: Laminin EGF-like 10
up seq anno comments: Laminin EGF-like 11
up seq anno comments: Laminin EGF-like 12
up seq anno comments: Laminin EGF-like 13
up seq anno comments: Laminin EGF-like 2
up seq anno comments: Laminin EGF-like 3
up seq anno comments: Laminin EGF-like 4
up seq anno comments: Laminin EGF-like 5; truncated
up seq anno comments: Laminin EGF-like 6
up seq anno comments: Laminin EGF-like 7
up seq anno comments: Laminin EGF-like 8
up seq anno comments: Laminin EGF-like 9
up seq anno comments: Laminin IV type B
up seq anno comments: Laminin N-terminal
up seq anno comments: Laminin subunit beta-2
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine; by FAM20C
up seq anno feature ids: PRO_0000017068
up seq anno feature ids: VAR_031968
up seq anno feature ids: VAR_031969
up seq anno feature ids: VAR_031970
up seq anno feature ids: VAR_031971
up seq anno feature ids: VAR_031972
up seq anno feature ids: VAR_031973
up seq anno feature ids: VAR_066492
up seq anno feature ids: VAR_087602
up seq anno feature ids: VAR_087603
up seq anno feature ids: VAR_087604
up seq anno feature ids: VAR_087605
up seq anno feature ids: VAR_087606

9606:OBSCN
gene id: 9606:OBSCN
uniprot id: A6NGQ3
uniprot id: Q5VST9
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: DH
up seq anno comments: Disordered
up seq anno comments: Fibronectin type-III
up seq anno comments: Fibronectin type-III 1
up seq anno comments: Fibronectin type-III 2
up seq anno comments: Fibronectin type-III 3
up seq anno comments: Fibronectin type-III 4
up seq anno comments: IQ
up seq anno comments: Ig-like
up seq anno comments: Ig-like 1
up seq anno comments: Ig-like 10
up seq anno comments: Ig-like 11
up seq anno comments: Ig-like 12
up seq anno comments: Ig-like 13
up seq anno comments: Ig-like 14
up seq anno comments: Ig-like 15
up seq anno comments: Ig-like 16
up seq anno comments: Ig-like 17
up seq anno comments: Ig-like 18
up seq anno comments: Ig-like 19
up seq anno comments: Ig-like 2
up seq anno comments: Ig-like 20
up seq anno comments: Ig-like 21
up seq anno comments: Ig-like 22
up seq anno comments: Ig-like 23
up seq anno comments: Ig-like 24
up seq anno comments: Ig-like 25
up seq anno comments: Ig-like 26
up seq anno comments: Ig-like 27
up seq anno comments: Ig-like 28
up seq anno comments: Ig-like 29
up seq anno comments: Ig-like 3
up seq anno comments: Ig-like 30
up seq anno comments: Ig-like 31
up seq anno comments: Ig-like 32
up seq anno comments: Ig-like 33
up seq anno comments: Ig-like 34
up seq anno comments: Ig-like 35

9606:MAP3K3
gene id: 9606:MAP3K3
uniprot id: J3KRN4
uniprot id: Q96HN9
uniprot id: Q99759
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Mitogen-activated protein kinase kinase kinase 3
up seq anno comments: PB1
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by SGK1
up seq anno comments: Polar residues
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000086245
up seq anno feature ids: VAR_037275
up seq anno feature ids: VAR_037276
up seq anno feature ids: VAR_040685
up seq anno feature ids: VSP_035967

9606:RNF144B
gene id: 9606:RNF144B
uniprot id: Q7Z419
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno parent labels: Zinc Finger
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno labels: Zinc Finger
up seq anno comments: E3 ubiquitin-protein ligase RNF144B
up seq anno comments: Helical
up seq anno comments: IBR-type
up seq anno comments: In isoform 2.
up seq anno comments: RING-type 1
up seq anno comments: RING-type 2; atypical
up seq anno comments: TRIAD supradomain
up seq anno feature ids: PRO_0000055911
up seq anno feature ids: VSP_055853
up seq anno feature ids: VSP_055854

9606:GNG10
gene id: 9606:GNG10
uniprot id: P50151
up seq anno parent labels: Chain
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Propeptide
up seq anno labels: Chain
up seq anno labels: Initiator Methionine
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Propeptide
up seq anno comments: Cysteine methyl ester
up seq anno comments: Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-10
up seq anno comments: N-acetylserine
up seq anno comments: Removed
up seq anno comments: Removed in mature form
up seq anno comments: S-geranylgeranyl cysteine
up seq anno feature ids: PRO_0000012655
up seq anno feature ids: PRO_0000012656

9606:CLEC4A
gene id: 9606:CLEC4A
uniprot id: Q9UMR7
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: C-type lectin
up seq anno comments: C-type lectin domain family 4 member A
up seq anno comments: Cytoplasmic
up seq anno comments: Decreases HIV-1 binding/entry in cells as well as virus replication.
up seq anno comments: Extracellular
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: ITIM motif
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000046612
up seq anno feature ids: VAR_021260
up seq anno feature ids: VSP_012842
up seq anno feature ids: VSP_012844
up seq anno feature ids: VSP_041348

9606:C2orf42
gene id: 9606:C2orf42
uniprot id: Q9NWW7
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno comments: Uncharacterized protein C2orf42
up seq anno feature ids: PRO_0000300121
up seq anno feature ids: VAR_050712

9606:SLC7A4
gene id: 9606:SLC7A4
uniprot id: O43246
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
up seq anno comments: Cationic amino acid transporter 4
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000054269
up seq anno feature ids: VAR_048155
up seq anno feature ids: VAR_048156
up seq anno feature ids: VAR_060989

9606:POLD1
gene id: 9606:POLD1
uniprot id: A0A087WYJ2
uniprot id: M0R2B7
uniprot id: P28340
uniprot id: Q308M6
uniprot id: Q59FA0
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: C4-type zinc-finger of DNA polymerase delta
up seq anno comments: CysA-type
up seq anno comments: CysB motif
up seq anno comments: DNA polymerase delta catalytic subunit
up seq anno comments: DNA-directed DNA polymerase family B exonuclease
up seq anno comments: DNA-directed DNA polymerase family B multifunctional
up seq anno comments: Disordered
up seq anno comments: Found in a colorectal sample; somatic mutation.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In CRCS10.
up seq anno comments: In CRCS10; associated with disease susceptibility.
up seq anno comments: In MDPL; the mutant enzyme lacks DNA polymerase ability; has decreased exonuclease activity; can bind DNA but is unable to interact with and incorporate dNTPs.
up seq anno comments: Loss of exonuclease activity. No effect on DNA polymerase activity.
up seq anno comments: Nuclear localization signal
up seq anno comments: Omega-N-methylarginine
up seq anno feature ids: PRO_0000046442
up seq anno feature ids: VAR_016146
up seq anno feature ids: VAR_019340
up seq anno feature ids: VAR_019341
up seq anno feature ids: VAR_019342
up seq anno feature ids: VAR_019343
up seq anno feature ids: VAR_019344
up seq anno feature ids: VAR_019345
up seq anno feature ids: VAR_048878
up seq anno feature ids: VAR_048879
up seq anno feature ids: VAR_048880
up seq anno feature ids: VAR_069333
up seq anno feature ids: VAR_069334
up seq anno feature ids: VAR_069335
up seq anno feature ids: VAR_069336
up seq anno feature ids: VAR_069337
up seq anno feature ids: VAR_069338
up seq anno feature ids: VAR_070231
up seq anno feature ids: VAR_071966

9606:GOLGA6L6
gene id: 9606:GOLGA6L6
uniprot id: A8MZA4
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Golgin subfamily A member 6-like protein 6
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000332267

9606:CRTAC1
gene id: 9606:CRTAC1
uniprot id: Q9NQ79
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Cartilage acidic protein 1
up seq anno comments: EGF-like
up seq anno comments: FG-GAP 1; atypical
up seq anno comments: FG-GAP 2; atypical
up seq anno comments: FG-GAP 3; atypical
up seq anno comments: FG-GAP 4; atypical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: O-linked (GalNAc...) threonine
up seq anno feature ids: PRO_0000007497
up seq anno feature ids: VAR_048972
up seq anno feature ids: VAR_048973
up seq anno feature ids: VAR_061152
up seq anno feature ids: VSP_010893
up seq anno feature ids: VSP_010894
up seq anno feature ids: VSP_010895

9606:TXNDC15
gene id: 9606:TXNDC15
uniprot id: Q7Z345
uniprot id: Q96J42
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In MKS14.
up seq anno comments: In MKS14; unknown pathological significance.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Thioredoxin
up seq anno comments: Thioredoxin domain-containing protein 15
up seq anno feature ids: PRO_0000296094
up seq anno feature ids: VAR_036172
up seq anno feature ids: VAR_082162
up seq anno feature ids: VAR_087298
up seq anno feature ids: VSP_027129

9606:CALML6
gene id: 9606:CALML6
uniprot id: B1AKR1
uniprot id: Q8TD86
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Variant
up seq anno comments: Calmodulin-like protein 6
up seq anno comments: EF-hand
up seq anno comments: EF-hand 1
up seq anno comments: EF-hand 2
up seq anno comments: EF-hand 3
up seq anno comments: EF-hand 4
up seq anno feature ids: PRO_0000073548
up seq anno feature ids: VAR_048588

9606:NFIL3
gene id: 9606:NFIL3
uniprot id: Q16649
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic motif
up seq anno comments: Disordered
up seq anno comments: Does not interact with DR1 and drastically affects transcriptional repression; when associated with E-330.
up seq anno comments: Does not interact with DR1 and drastically affects transcriptional repression; when associated with E-332.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: Interacts with DR1 and partially affects transcriptional repression; when associated with E-330.
up seq anno comments: Interacts with DR1 and partially affects transcriptional repression; when associated with E-332.
up seq anno comments: Leucine-zipper
up seq anno comments: Necessary for transcriptional repression and sufficient for interaction with DR1
up seq anno comments: Nuclear factor interleukin-3-regulated protein
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: bZIP
up seq anno feature ids: PRO_0000292667

9606:HSPA12B
gene id: 9606:HSPA12B
uniprot id: B7ZLP2
uniprot id: Q5BKZ8
uniprot id: Q96MM6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: Heat shock 70 kDa protein 12B
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000078294
up seq anno feature ids: VAR_049621
up seq anno feature ids: VAR_059362

9606:DPF2
gene id: 9606:DPF2
uniprot id: J3KMZ8
uniprot id: Q92785
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: C2H2-type
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In CSS7.
up seq anno comments: In CSS7; abolishes interaction with acetylated histone H3; strongly decreased interaction with methylated histone H3.
up seq anno comments: In CSS7; abolishes interaction with acetylated or methylated histone H3.
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylalanine
up seq anno comments: PHD-type
up seq anno comments: PHD-type 1
up seq anno comments: PHD-type 2
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Removed
up seq anno comments: Strongly decreased interaction with histones H3 and H4 and loss of function; when associated with A-275 and A-300.
up seq anno comments: Strongly decreased interaction with histones H3 and H4 and loss of function; when associated with A-275 and A-346.
up seq anno comments: Strongly decreased interaction with histones H3 and H4 and loss of function; when associated with A-300 and A-346.
up seq anno comments: Zinc finger protein ubi-d4
up seq anno feature ids: PRO_0000168149
up seq anno feature ids: VAR_081047
up seq anno feature ids: VAR_081048
up seq anno feature ids: VAR_081049
up seq anno feature ids: VAR_081050
up seq anno feature ids: VAR_081051
up seq anno feature ids: VSP_055860

9606:FN1
gene id: 9606:FN1
uniprot id: B7ZLE5
uniprot id: P02751
uniprot id: Q6MZF4
uniprot id: Q6MZM7
uniprot id: Q6N084
uniprot id: Q9UQS6
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: DNA Binding
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: DNA Binding
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Anastellin
up seq anno comments: Binds to FBLN1
up seq anno comments: Cell attachment site
up seq anno comments: Cell-attachment
up seq anno comments: Collagen-binding
up seq anno comments: Critical for collagen binding
up seq anno comments: Disordered
up seq anno comments: Fibrin- and heparin-binding 1
up seq anno comments: Fibrin-binding 2
up seq anno comments: Fibronectin
up seq anno comments: Fibronectin type-I
up seq anno comments: Fibronectin type-I 1
up seq anno comments: Fibronectin type-I 10
up seq anno comments: Fibronectin type-I 11
up seq anno comments: Fibronectin type-I 12
up seq anno comments: Fibronectin type-I 2
up seq anno comments: Fibronectin type-I 3
up seq anno comments: Fibronectin type-I 4
up seq anno comments: Fibronectin type-I 5
up seq anno comments: Fibronectin type-I 6
up seq anno comments: Fibronectin type-I 7
up seq anno comments: Fibronectin type-I 8
up seq anno comments: Fibronectin type-I 9
up seq anno comments: Fibronectin type-II
up seq anno comments: Fibronectin type-II 1
up seq anno comments: Fibronectin type-II 2
up seq anno comments: Fibronectin type-III
up seq anno comments: Fibronectin type-III 1
up seq anno comments: Fibronectin type-III 10
up seq anno comments: Fibronectin type-III 11

9606:RSPO3
gene id: 9606:RSPO3
uniprot id: Q9BXY4
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Disordered
up seq anno comments: FU 1
up seq anno comments: FU 2
up seq anno comments: In isoform 2.
up seq anno comments: Loss of LGR4/5/6-binding, no effect on WNT3A signaling; when associated with A-106.
up seq anno comments: Loss of LGR4/5/6-binding, no effect on WNT3A signaling; when associated with A-110.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: R-spondin-3
up seq anno comments: TSP type-1
up seq anno feature ids: PRO_0000234443
up seq anno feature ids: VSP_018324

9606:OR56B1
gene id: 9606:OR56B1
uniprot id: Q8NGI3
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 56B1
up seq anno feature ids: PRO_0000150796
up seq anno feature ids: VAR_055055

9606:VSTM1
gene id: 9606:VSTM1
uniprot id: D2DJS5
uniprot id: D2DJS6
uniprot id: Q6UX27
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: ITIM motif 1
up seq anno comments: ITIM motif 2
up seq anno comments: Ig-like V-type
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: V-set and transmembrane domain-containing protein 1
up seq anno feature ids: PRO_0000272269
up seq anno feature ids: VAR_030034
up seq anno feature ids: VSP_022381
up seq anno feature ids: VSP_022382
up seq anno feature ids: VSP_022383

9606:C11orf91
gene id: 9606:C11orf91
uniprot id: Q3C1V1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Pro residues
up seq anno comments: Uncharacterized protein C11orf91
up seq anno feature ids: PRO_0000340697
up seq anno feature ids: VSP_034218

9606:CNOT8
gene id: 9606:CNOT8
uniprot id: Q9UFF9
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: CCR4-NOT transcription complex subunit 8
up seq anno comments: Impairs deadenylation and decay of mRNAi-targeted mRNA; when associated with A-40.
up seq anno comments: Impairs deadenylation and decay of mRNAi-targeted mRNA; when associated with A-42.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno feature ids: PRO_0000212846
up seq anno feature ids: VAR_048751
up seq anno feature ids: VSP_055527
up seq anno feature ids: VSP_055528

9606:VSIG1
gene id: 9606:VSIG1
uniprot id: Q86XK7
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Ig-like C2-type
up seq anno comments: Ig-like V-type
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Pro residues
up seq anno comments: V-set and immunoglobulin domain-containing protein 1
up seq anno feature ids: PRO_0000313573
up seq anno feature ids: VAR_049955
up seq anno feature ids: VSP_045475

9606:WDFY3
gene id: 9606:WDFY3
uniprot id: Q8IZQ1
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Abolishes interaction with GABARAP and MAP1LC3C.
up seq anno comments: Acidic residues
up seq anno comments: BEACH
up seq anno comments: BEACH-type PH
up seq anno comments: Basic and acidic residues
up seq anno comments: Decreased interaction with GABARAP, no effect on interaction with MAP1LC3B; when associated with A-3343 and A-3344.
up seq anno comments: Decreased interaction with GABARAP, no effect on interaction with MAP1LC3B; when associated with A-3343 and A-3351.
up seq anno comments: Decreased interaction with GABARAP, no effect on interaction with MAP1LC3B; when associated with A-3344 and A-3351.
up seq anno comments: Decreases interaction with GABARAP and MAP1LC3C.
up seq anno comments: Disordered
up seq anno comments: FYVE-type
up seq anno comments: In MCPH18; increased cellular DVL3 protein levels as compared to the wild-type protein and loss of attenuation of Wnt signaling; when expressed in Drosophila, causes brain anomalies.
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with ATG5
up seq anno comments: Interaction with GABARAP
up seq anno comments: Interaction with SQSTM1
up seq anno comments: LC3-interacting region (LIR)
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Sufficient for localization to p62 bodies/ALIS
up seq anno comments: WD 1
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD repeat and FYVE domain-containing protein 3
up seq anno feature ids: PRO_0000242693
up seq anno feature ids: VAR_026864
up seq anno feature ids: VAR_079130
up seq anno feature ids: VSP_019475

9606:ORC4
gene id: 9606:ORC4
uniprot id: A8K7H4
uniprot id: O43929
uniprot id: Q96B14
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: AAA+ ATPase
up seq anno comments: ATPase AAA-type core
up seq anno comments: Impairs ORC complex formation.
up seq anno comments: In MGORS2.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N6-methyllysine
up seq anno comments: Origin recognition complex subunit 4
up seq anno comments: Origin recognition complex subunit 4 C-terminal
up seq anno feature ids: PRO_0000127087
up seq anno feature ids: VAR_014523
up seq anno feature ids: VAR_019235
up seq anno feature ids: VAR_065486
up seq anno feature ids: VSP_045199
up seq anno feature ids: VSP_046437

9606:CDK14
gene id: 9606:CDK14
uniprot id: B4DK59
uniprot id: E7EUK8
uniprot id: O94921
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Abolishes protein kinase activity.
up seq anno comments: Cyclin-dependent kinase 14
up seq anno comments: Disordered
up seq anno comments: In an ovarian mucinous carcinoma; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000086506
up seq anno feature ids: VAR_046765
up seq anno feature ids: VAR_046766
up seq anno feature ids: VSP_004803
up seq anno feature ids: VSP_038762

9606:THRAP3
gene id: 9606:THRAP3
uniprot id: Q9Y2W1
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Asymmetric dimethylarginine
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Dimethylated arginine
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: N-acetylserine
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-methyllysine; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: Reduces phosphorylation upon DNA damage; when associated with A-406.
up seq anno comments: Reduces phosphorylation upon DNA damage; when associated with A-408.
up seq anno comments: Removed
up seq anno comments: Required for mRNA decay activity
up seq anno comments: Required for mRNA splicing activation
up seq anno comments: Thyroid hormone receptor-associated protein 3
up seq anno feature ids: PRO_0000065583
up seq anno feature ids: VAR_024552

9606:POLR2L
gene id: 9606:POLR2L
uniprot id: P62875
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: DNA-directed RNA polymerases I, II, and III subunit RPABC5
up seq anno feature ids: PRO_0000121333

9606:POGZ
gene id: 9606:POGZ
uniprot id: Q7Z3K3
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Abolishes interaction with CBX1, CBX3 and CBX5; when associated with A-817; A-820 and A-833.
up seq anno comments: Abolishes interaction with CBX1, CBX3 and CBX5; when associated with A-817; A-820 and A-840.
up seq anno comments: Abolishes interaction with CBX1, CBX3 and CBX5; when associated with when associated with A-817; A-833 and A-840.
up seq anno comments: Basic and acidic residues
up seq anno comments: C2H2-type 1; atypical
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: DDE-1
up seq anno comments: Diminishes interaction with CBX5 and abolishes interaction with CBX1 and CBX5; when associated with A-820; A-833 and A-840.
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: HTH CENPB-type
up seq anno comments: In isoform 2, isoform 3 and isoform 7.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6 and isoform 7.
up seq anno comments: Integrase domain-binding motif (IBM)
up seq anno comments: Loss of phosphorylation. Loss of interaction with PSIP1; when associated with A-1392.
up seq anno comments: Loss of phosphorylation. Loss of interaction with PSIP1; when associated with A-1396.
up seq anno comments: Phosphomimetic mutant. Significant increase in interaction with PSIP1; when associated with D-1392.
up seq anno comments: Phosphomimetic mutant. Significant increase in interaction with PSIP1; when associated with D-1396.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CK2
up seq anno comments: Phosphothreonine
up seq anno comments: Pogo transposable element with ZNF domain
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Probable disease-associated variant found in patients with ASD.
up seq anno comments: Required for interaction with CBX5
up seq anno feature ids: PRO_0000047224
up seq anno feature ids: VAR_031476
up seq anno feature ids: VAR_073179
up seq anno feature ids: VSP_010185
up seq anno feature ids: VSP_010186
up seq anno feature ids: VSP_010187
up seq anno feature ids: VSP_010188

9606:TDRD12
gene id: 9606:TDRD12
uniprot id: A0A2R8Y872
uniprot id: Q587J7
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Acidic residues
up seq anno comments: CS
up seq anno comments: DEAH box
up seq anno comments: Disordered
up seq anno comments: Helicase ATP-binding
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno comments: Putative ATP-dependent RNA helicase TDRD12
up seq anno comments: Tudor 1
up seq anno comments: Tudor 2
up seq anno feature ids: PRO_0000311968
up seq anno feature ids: VSP_029675
up seq anno feature ids: VSP_029676

9606:MFAP3
gene id: 9606:MFAP3
uniprot id: P55082
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Ig-like C2-type
up seq anno comments: In isoform 2.
up seq anno comments: Microfibril-associated glycoprotein 3
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000014865
up seq anno feature ids: VAR_069386
up seq anno feature ids: VSP_042948

9606:RGS11
gene id: 9606:RGS11
uniprot id: B7Z285
uniprot id: O94810
uniprot id: Q4TT70
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: DEP
up seq anno comments: Diminishes interaction with Gbeta5.
up seq anno comments: Disordered
up seq anno comments: G protein gamma
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Polar residues
up seq anno comments: RGS
up seq anno comments: Regulator of G-protein signaling 11
up seq anno feature ids: PRO_0000204210
up seq anno feature ids: VAR_024606
up seq anno feature ids: VAR_061770
up seq anno feature ids: VSP_023497
up seq anno feature ids: VSP_046724

9606:LZTS3
gene id: 9606:LZTS3
uniprot id: O60299
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Leucine zipper putative tumor suppressor 3
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000050760
up seq anno feature ids: VSP_039202

9606:GK
gene id: 9606:GK
uniprot id: A0A8I5KXY7
uniprot id: B4DH54
uniprot id: P32189
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Carbohydrate kinase FGGY C-terminal
up seq anno comments: Carbohydrate kinase FGGY N-terminal
up seq anno comments: Glycerol kinase
up seq anno comments: In GKD.
up seq anno comments: In isoform 1 and isoform 2.
up seq anno comments: In isoform 1 and isoform 4.
up seq anno feature ids: PRO_0000059535
up seq anno feature ids: VAR_001374
up seq anno feature ids: VAR_001375
up seq anno feature ids: VAR_001376
up seq anno feature ids: VAR_001377
up seq anno feature ids: VAR_010138
up seq anno feature ids: VAR_015433
up seq anno feature ids: VAR_068980
up seq anno feature ids: VAR_068981
up seq anno feature ids: VSP_000770
up seq anno feature ids: VSP_000771

9606:CNOT9
gene id: 9606:CNOT9
uniprot id: Q92600
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: CCR4-NOT transcription complex subunit 9
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of DNA binding.
up seq anno comments: N-acetylmethionine
up seq anno feature ids: PRO_0000327224
up seq anno feature ids: VAR_042429
up seq anno feature ids: VSP_054371
up seq anno feature ids: VSP_055744
up seq anno feature ids: VSP_055745

9606:TMEM119
gene id: 9606:TMEM119
uniprot id: Q4V9L6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: O-linked (GalNAc...) serine
up seq anno comments: Phosphoserine
up seq anno comments: Transmembrane protein 119
up seq anno feature ids: PRO_0000251220
up seq anno feature ids: VAR_027663

9606:PSME1
gene id: 9606:PSME1
uniprot id: A0A0K0K1L8
uniprot id: Q06323
uniprot id: Q86SZ9
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Polar residues
up seq anno comments: Proteasome activator PA28 C-terminal
up seq anno comments: Proteasome activator PA28 N-terminal
up seq anno comments: Proteasome activator complex subunit 1
up seq anno feature ids: PRO_0000161779
up seq anno feature ids: VAR_011993
up seq anno feature ids: VAR_011994
up seq anno feature ids: VSP_046880
up seq anno feature ids: VSP_055166
up seq anno feature ids: VSP_055167

9606:IL5RA
gene id: 9606:IL5RA
uniprot id: Q01344
uniprot id: Q8NHV7
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Motif
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Box 1 motif
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Fibronectin type-III 1
up seq anno comments: Fibronectin type-III 2
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: Interleukin-5 receptor subunit alpha
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Type I cytokine receptor cytokine-binding
up seq anno comments: WSXWS motif
up seq anno feature ids: PRO_0000010893
up seq anno feature ids: PRO_5004314276
up seq anno feature ids: VAR_020654
up seq anno feature ids: VAR_020655
up seq anno feature ids: VSP_001678
up seq anno feature ids: VSP_001679
up seq anno feature ids: VSP_001680
up seq anno feature ids: VSP_001681
up seq anno feature ids: VSP_046742
up seq anno feature ids: VSP_047762

9606:SFRP5
gene id: 9606:SFRP5
uniprot id: Q5T4F7
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: FZ
up seq anno comments: NTR
up seq anno comments: Secreted frizzled-related protein 5
up seq anno feature ids: PRO_0000032555
up seq anno feature ids: VAR_021412

9606:DRGX
gene id: 9606:DRGX
uniprot id: A6NNA5
up seq anno parent labels: Chain
up seq anno parent labels: DNA Binding
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: DNA Binding
up seq anno labels: Motif
up seq anno labels: Region
up seq anno comments: Disordered
up seq anno comments: Dorsal root ganglia homeobox protein
up seq anno comments: Homeobox
up seq anno comments: OAR
up seq anno feature ids: PRO_0000300814

9606:ZBTB49
gene id: 9606:ZBTB49
uniprot id: Q6ZSB9
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: BTB
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: Polar residues
up seq anno comments: Zinc finger and BTB domain-containing protein 49
up seq anno feature ids: PRO_0000047626
up seq anno feature ids: VAR_057422
up seq anno feature ids: VAR_057423
up seq anno feature ids: VAR_057424
up seq anno feature ids: VAR_073227
up seq anno feature ids: VSP_016343
up seq anno feature ids: VSP_057623
up seq anno feature ids: VSP_057624
up seq anno feature ids: VSP_057625
up seq anno feature ids: VSP_057626
up seq anno feature ids: VSP_057627

9606:DNAH5
gene id: 9606:DNAH5
uniprot id: Q8TE73
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: AAA 1
up seq anno comments: AAA 2
up seq anno comments: AAA 3
up seq anno comments: AAA 4
up seq anno comments: AAA 5
up seq anno comments: AAA 6
up seq anno comments: Dynein axonemal heavy chain 5
up seq anno comments: In CILD3.
up seq anno comments: In CILD3; disease phenotype consistent with Kartagener syndrome.
up seq anno comments: Stalk
up seq anno comments: Stem
up seq anno feature ids: PRO_0000114630
up seq anno feature ids: VAR_019603
up seq anno feature ids: VAR_019604
up seq anno feature ids: VAR_019605
up seq anno feature ids: VAR_019606
up seq anno feature ids: VAR_019607
up seq anno feature ids: VAR_019608
up seq anno feature ids: VAR_019609
up seq anno feature ids: VAR_019610
up seq anno feature ids: VAR_019611
up seq anno feature ids: VAR_027903
up seq anno feature ids: VAR_027904
up seq anno feature ids: VAR_027905
up seq anno feature ids: VAR_027906
up seq anno feature ids: VAR_030705
up seq anno feature ids: VAR_030706
up seq anno feature ids: VAR_030707
up seq anno feature ids: VAR_030708
up seq anno feature ids: VAR_030709
up seq anno feature ids: VAR_030710
up seq anno feature ids: VAR_030711
up seq anno feature ids: VAR_030712
up seq anno feature ids: VAR_053840
up seq anno feature ids: VAR_053841
up seq anno feature ids: VAR_053842
up seq anno feature ids: VAR_053843
up seq anno feature ids: VAR_053844
up seq anno feature ids: VAR_072469
up seq anno feature ids: VAR_072470
up seq anno feature ids: VAR_072471

9606:MAGEC3
gene id: 9606:MAGEC3
uniprot id: Q8TD91
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: MAGE 1
up seq anno comments: MAGE 2
up seq anno comments: Melanoma-associated antigen C3
up seq anno comments: Phosphothreonine
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000156722
up seq anno feature ids: VAR_053505
up seq anno feature ids: VAR_053506
up seq anno feature ids: VAR_053507
up seq anno feature ids: VAR_060069
up seq anno feature ids: VSP_043489
up seq anno feature ids: VSP_043490
up seq anno feature ids: VSP_043491

9606:OR4F21
gene id: 9606:OR4F21
uniprot id: O95013
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 4F21
up seq anno feature ids: PRO_0000150545

9606:SMURF1
gene id: 9606:SMURF1
uniprot id: Q9HCE7
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes FBXL15-mediated ubiquitination and degradation; when associated with R-350 and R-381. Abolishes FBXL15-mediated ubiquitination and degradation; when associated with R-381.
up seq anno comments: Abolishes FBXL15-mediated ubiquitination and degradation; when associated with R-350 and R-383. Abolishes FBXL15-mediated ubiquitination and degradation; when associated with R-383.
up seq anno comments: Abolishes FBXL15-mediated ubiquitination and degradation; when associated with R-381 and R-381.
up seq anno comments: C2
up seq anno comments: Disordered
up seq anno comments: E3 ubiquitin-protein ligase SMURF1
up seq anno comments: Fails to ubiquitinate RHOA; when associated with A-28.
up seq anno comments: Fails to ubiquitinate RHOA; when associated with A-85.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Glycyl thioester intermediate
up seq anno comments: HECT
up seq anno comments: In isoform Short.
up seq anno comments: Loss of enzyme activity, without abolishing FBXL15-mediated ubiquitination.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: WW 1
up seq anno comments: WW 2
up seq anno feature ids: PRO_0000120326
up seq anno feature ids: VAR_052959
up seq anno feature ids: VSP_006812

9606:C17orf50
gene id: 9606:C17orf50
uniprot id: Q8WW18
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Uncharacterized protein C17orf50
up seq anno feature ids: PRO_0000251202
up seq anno feature ids: VAR_050899

9606:YIPF4
gene id: 9606:YIPF4
uniprot id: Q9BSR8
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Protein YIPF4
up seq anno feature ids: PRO_0000242632

9606:VPS45
gene id: 9606:VPS45
uniprot id: Q9NRW7
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: In SCN5.
up seq anno comments: In SCN5; patient fibroblasts are characterized by impaired motility and increased apoptosis.
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Vacuolar protein sorting-associated protein 45
up seq anno feature ids: PRO_0000206312
up seq anno feature ids: VAR_069865
up seq anno feature ids: VAR_069866
up seq anno feature ids: VSP_056739
up seq anno feature ids: VSP_056740
up seq anno feature ids: VSP_056741

9606:GATAD1
gene id: 9606:GATAD1
uniprot id: Q8WUU5
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: Disordered
up seq anno comments: GATA zinc finger domain-containing protein 1
up seq anno comments: GATA-type
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In CMD2B.
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000288909
up seq anno feature ids: VAR_032533
up seq anno feature ids: VAR_068556
up seq anno feature ids: VAR_068557

9606:PIGB
gene id: 9606:PIGB
uniprot id: Q92521
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
up seq anno comments: GPI mannosyltransferase 3
up seq anno comments: Helical
up seq anno comments: In DEE80.
up seq anno comments: In DEE80; decreased protein levels; decreased cell surface presence of GPI-anchored proteins.
up seq anno comments: In DEE80; decreased protein levels; slightly decreased cell surface presence of GPI-anchored proteins.
up seq anno comments: In DEE80; no effect on protein levels; decreased cell surface presence of GPI-anchored proteins.
up seq anno comments: In DEE80; strongly decreased protein levels; decreased cell surface presence of GPI-anchored proteins.
up seq anno comments: In DEE80; strongly decreased protein levels; slightly decreased cell surface presence of GPI-anchored proteins.
up seq anno comments: In DEE80; unknown pathological significance.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000246251
up seq anno feature ids: VAR_027027
up seq anno feature ids: VAR_027028
up seq anno feature ids: VAR_027029
up seq anno feature ids: VAR_027030
up seq anno feature ids: VAR_027031
up seq anno feature ids: VAR_049224
up seq anno feature ids: VAR_083070
up seq anno feature ids: VAR_083071
up seq anno feature ids: VAR_083072
up seq anno feature ids: VAR_083073
up seq anno feature ids: VAR_083074
up seq anno feature ids: VAR_083075
up seq anno feature ids: VAR_083076
up seq anno feature ids: VAR_083077
up seq anno feature ids: VAR_083078
up seq anno feature ids: VAR_083079

9606:ZNF728
gene id: 9606:ZNF728
uniprot id: P0DKX0
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 12
up seq anno comments: C2H2-type 13
up seq anno comments: C2H2-type 14
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 728
up seq anno feature ids: PRO_0000421023

9606:TBC1D19
gene id: 9606:TBC1D19
uniprot id: Q8N5T2
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: Rab-GAP TBC
up seq anno comments: TBC1 domain family member 19
up seq anno feature ids: PRO_0000208047
up seq anno feature ids: VAR_030602
up seq anno feature ids: VAR_030603
up seq anno feature ids: VSP_053998

9606:ACSL4
gene id: 9606:ACSL4
uniprot id: O60488
uniprot id: Q8TAF6
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: AMP-dependent synthetase/ligase
up seq anno comments: Cytoplasmic
up seq anno comments: Helical; Signal-anchor for type III membrane protein
up seq anno comments: In XLID63.
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform Short.
up seq anno comments: Long-chain-fatty-acid--CoA ligase 4
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000193109
up seq anno feature ids: VAR_013180
up seq anno feature ids: VAR_036376
up seq anno feature ids: VAR_083476
up seq anno feature ids: VSP_000238

9606:IGFBP7
gene id: 9606:IGFBP7
uniprot id: Q16270
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: IGFBP N-terminal
up seq anno comments: Ig-like C2-type
up seq anno comments: In RNA edited version.
up seq anno comments: In isoform 2.
up seq anno comments: Insulin-like growth factor-binding protein 7
up seq anno comments: Kazal-like
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine; by FAM20C
up seq anno feature ids: PRO_0000014392
up seq anno feature ids: VAR_018959
up seq anno feature ids: VAR_063638
up seq anno feature ids: VAR_063639
up seq anno feature ids: VSP_045297

9606:MDM2
gene id: 9606:MDM2
uniprot id: A0A0A8KB75
uniprot id: A7UKX7
uniprot id: A7UKX8
uniprot id: A7UKX9
uniprot id: G3XA89
uniprot id: Q00987
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: ARF-binding
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: DM2
up seq anno comments: Disordered
up seq anno comments: E3 ubiquitin-protein ligase Mdm2
up seq anno comments: Fails to interact with MDM4.
up seq anno comments: In isoform 11.
up seq anno comments: In isoform Mdm2-A and isoform Mdm2-A1.
up seq anno comments: In isoform Mdm2-A1.
up seq anno comments: In isoform Mdm2-B.
up seq anno comments: In isoform Mdm2-C.
up seq anno comments: In isoform Mdm2-D.
up seq anno comments: In isoform Mdm2-E.
up seq anno comments: In isoform Mdm2-F.
up seq anno comments: In isoform Mdm2-G.
up seq anno comments: In isoform Mdm2-alpha.
up seq anno comments: Interaction with MTBP
up seq anno comments: Interaction with PYHIN1 and necessary for interaction with RFFL and RNF34
up seq anno comments: Interaction with USP7
up seq anno comments: Loss of ubiquitin ligase E3 activity, enhances protein stability. Does not inhibit interaction with APEX1, but inhibits its ubiquitin ligase E3 activity on APEX1. No effect on its ability to induce apoptosis.
up seq anno comments: Loss of ubiquitin ligase E3 activity.
up seq anno comments: Necessary for interaction with USP2
up seq anno comments: No effect on its ability to induce apoptosis.
up seq anno comments: No loss of ubiquitin ligase E3 activity.
up seq anno comments: No substantial decrease of ubiquitin ligase E3 activity.
up seq anno comments: Nuclear export signal
up seq anno comments: Nuclear localization signal
up seq anno comments: Nucleolar localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by ATM
up seq anno comments: Phosphoserine; by SGK1
up seq anno comments: Phosphothreonine; by ATM
up seq anno comments: Polar residues
up seq anno comments: RING-type
up seq anno comments: RanBP2-type
up seq anno comments: Region II
up seq anno comments: SWIB/MDM2
up seq anno comments: Significant decrease of ubiquitin ligase E3 activity.
up seq anno comments: Sufficient to promote the mitochondrial pathway of apoptosis

9606:GPRASP1
gene id: 9606:GPRASP1
uniprot id: Q5JY77
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: G-protein coupled receptor-associated sorting protein 1
up seq anno comments: OPRD1-binding
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000239050
up seq anno feature ids: VAR_026579
up seq anno feature ids: VAR_049263
up seq anno feature ids: VAR_049264

9606:RD3L
gene id: 9606:RD3L
uniprot id: P0DJH9
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Region
up seq anno comments: Disordered
up seq anno comments: Protein RD3-like
up seq anno feature ids: PRO_0000417456

9606:CD248
gene id: 9606:CD248
uniprot id: Q9HCU0
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: C-type lectin
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: EGF-like; calcium-binding
up seq anno comments: Endosialin
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: O-linked (GalNAc...) serine
up seq anno comments: O-linked (GalNAc...) threonine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Sushi
up seq anno feature ids: PRO_0000045799
up seq anno feature ids: VAR_025013
up seq anno feature ids: VAR_036399
up seq anno feature ids: VSP_017087

9606:SLC25A44
gene id: 9606:SLC25A44
uniprot id: E9PGQ0
uniprot id: Q96H78
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Solcar
up seq anno comments: Solcar 1
up seq anno comments: Solcar 2
up seq anno comments: Solcar 3
up seq anno comments: Solute carrier family 25 member 44
up seq anno feature ids: PRO_0000253064
up seq anno feature ids: VAR_050134

9606:SAXO2
gene id: 9606:SAXO2
uniprot id: Q658L1
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: Stabilizer of axonemal microtubules 2
up seq anno feature ids: PRO_0000321839
up seq anno feature ids: VAR_039359
up seq anno feature ids: VAR_039360
up seq anno feature ids: VAR_039361
up seq anno feature ids: VSP_055086

9606:MYCBP2
gene id: 9606:MYCBP2
uniprot id: O75592
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Abolished E3 ubiquitin-protein ligase activity in threonine discharge assay, associated with enhanced thiol-sensitive ubiquitin adduct formation.
up seq anno comments: Abolished E3 ubiquitin-protein ligase activity.
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: DOC
up seq anno comments: Disordered
up seq anno comments: Does not affect E3 ubiquitin-protein ligase activity.
up seq anno comments: E3 ubiquitin-protein ligase MYCBP2
up seq anno comments: Filamin
up seq anno comments: Important for catalysis
up seq anno comments: In isoform 2.
up seq anno comments: Increased thiol-sensitive adduct formation.
up seq anno comments: PHR domain 1
up seq anno comments: PHR domain 2
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: RAE1 binding
up seq anno comments: RCC1 1
up seq anno comments: RCC1 2
up seq anno comments: RCC1 3
up seq anno comments: RCC1 4
up seq anno comments: RCC1 5
up seq anno comments: RING-type; atypical
up seq anno comments: Reduced E3 ubiquitin-protein ligase activity in threonine discharge assay.
up seq anno comments: Retains activity while also forming a discrete monoubiquitin adduct that is resistant to thiolysis but is reversible after base treatment.
up seq anno comments: Tandem cysteine domain
up seq anno feature ids: PRO_0000055963
up seq anno feature ids: VAR_030070
up seq anno feature ids: VAR_052086
up seq anno feature ids: VSP_014183

9606:NDC80
gene id: 9606:NDC80
uniprot id: A8K031
uniprot id: O14777
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Turn
up seq anno comments: Abrogates binding to RB1.
up seq anno comments: DUF5595
up seq anno comments: Disordered
up seq anno comments: Impaired acetylation, leading to reduced kinetochore-microtubule attachment; when associated with R-53.
up seq anno comments: Impaired acetylation, leading to reduced kinetochore-microtubule attachment; when associated with R-59.
up seq anno comments: Interaction with NEK2 and ZWINT
up seq anno comments: Interaction with PSMC2 and SMC1A
up seq anno comments: Interaction with RB1
up seq anno comments: Interaction with SMC1A
up seq anno comments: Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex
up seq anno comments: Interaction with the N-terminus of CDCA1
up seq anno comments: Kinetochore protein NDC80 homolog
up seq anno comments: Mimics acetylation, leading to increased kinetochore-microtubule attachment; when associated with Q-53.
up seq anno comments: Mimics acetylation, leading to increased kinetochore-microtubule attachment; when associated with Q-59.
up seq anno comments: N6-acetyllysine
up seq anno comments: Nuclear localization
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by NEK2
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000249550
up seq anno feature ids: VAR_027436
up seq anno feature ids: VAR_027437
up seq anno feature ids: VAR_027438

9606:TPT1
gene id: 9606:TPT1
uniprot id: A0A0B4J2C3
uniprot id: A0A0P1J1R0
uniprot id: P13693
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PLK1
up seq anno comments: Required for reduction of TSC22D1 protein stability
up seq anno comments: TCTP
up seq anno comments: Translationally-controlled tumor protein
up seq anno feature ids: PRO_0000211268
up seq anno feature ids: VAR_052273
up seq anno feature ids: VSP_054838

9606:BRDT
gene id: 9606:BRDT
uniprot id: Q58F21
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Bromo 1
up seq anno comments: Bromo 2
up seq anno comments: Bromodomain testis-specific protein
up seq anno comments: Disordered
up seq anno comments: Histone H4K5ac binding
up seq anno comments: In SPGF21; no effect on protein expression; unknown pathological significance.
up seq anno comments: In a gastric adenocarcinoma sample; somatic mutation.
up seq anno comments: In a lung neuroendocrine carcinoma sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: NET
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000239225
up seq anno feature ids: VAR_026584
up seq anno feature ids: VAR_026585
up seq anno feature ids: VAR_026586
up seq anno feature ids: VAR_041924
up seq anno feature ids: VAR_041925
up seq anno feature ids: VAR_041926
up seq anno feature ids: VAR_041927
up seq anno feature ids: VAR_041928
up seq anno feature ids: VAR_041929
up seq anno feature ids: VAR_047327
up seq anno feature ids: VAR_047328
up seq anno feature ids: VAR_047329
up seq anno feature ids: VAR_079306
up seq anno feature ids: VSP_019118
up seq anno feature ids: VSP_044509
up seq anno feature ids: VSP_044510
up seq anno feature ids: VSP_044511

9606:SELENOP
gene id: 9606:SELENOP
uniprot id: P49908
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non standard residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Non standard residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Disordered
up seq anno comments: N-linked (GlcNAc...) (complex) asparagine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Selenocysteine
up seq anno comments: Selenoprotein P
up seq anno feature ids: PRO_0000022313
up seq anno feature ids: VAR_023256
up seq anno feature ids: VAR_023257
up seq anno feature ids: VAR_023258
up seq anno feature ids: VAR_023259
up seq anno feature ids: VAR_023260

9606:FGL2
gene id: 9606:FGL2
uniprot id: A4D1B8
uniprot id: Q14314
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Disordered
up seq anno comments: Fibrinogen C-terminal
up seq anno comments: Fibroleukin
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000009106
up seq anno feature ids: PRO_5014296870
up seq anno feature ids: VAR_013066

9606:ACTA2
gene id: 9606:ACTA2
uniprot id: P62736
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Actin, aortic smooth muscle
up seq anno comments: Actin, aortic smooth muscle, intermediate form
up seq anno comments: In AAT6.
up seq anno comments: In MSMDS.
up seq anno comments: In MYMY5 and MSMDS; disease phenotype include smooth muscle cells dysfunction in organs throughout the body with decreased contractile function in the iris, bladder and gastrointestinal tract.
up seq anno comments: Isoglutamyl lysine isopeptide (Glu-Lys) (interchain with K-52); by Vibrio toxins RtxA and VgrG1
up seq anno comments: Isoglutamyl lysine isopeptide (Lys-Glu) (interchain with E-272); by Vibrio toxins RtxA and VgrG1
up seq anno comments: Methionine (R)-sulfoxide
up seq anno comments: N-acetylcysteine; in intermediate form
up seq anno comments: N-acetylglutamate; in Actin, aortic smooth muscle
up seq anno comments: N6-methyllysine
up seq anno comments: Removed
up seq anno comments: Tele-methylhistidine
up seq anno feature ids: PRO_0000442603
up seq anno feature ids: PRO_0000442604
up seq anno feature ids: VAR_011944
up seq anno feature ids: VAR_011945
up seq anno feature ids: VAR_011946
up seq anno feature ids: VAR_045915
up seq anno feature ids: VAR_045916
up seq anno feature ids: VAR_045917
up seq anno feature ids: VAR_045918
up seq anno feature ids: VAR_045919
up seq anno feature ids: VAR_045920
up seq anno feature ids: VAR_045921
up seq anno feature ids: VAR_045922
up seq anno feature ids: VAR_045923
up seq anno feature ids: VAR_062577
up seq anno feature ids: VAR_062578
up seq anno feature ids: VAR_062579
up seq anno feature ids: VAR_062580
up seq anno feature ids: VAR_062581
up seq anno feature ids: VAR_064516
up seq anno feature ids: VAR_085865

9606:HOXA1
gene id: 9606:HOXA1
uniprot id: P49639
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Antp-type hexapeptide
up seq anno comments: Basic residues
up seq anno comments: Disordered
up seq anno comments: Homeobox
up seq anno comments: Homeobox protein Hox-A1
up seq anno comments: In isoform 1.
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with OGT
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000200030
up seq anno feature ids: VAR_010305
up seq anno feature ids: VAR_030576
up seq anno feature ids: VSP_002376
up seq anno feature ids: VSP_002377
up seq anno feature ids: VSP_002378
up seq anno feature ids: VSP_002379

9606:GDI1
gene id: 9606:GDI1
uniprot id: A0A0S2Z3X8
uniprot id: P31150
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: In XLID41.
up seq anno comments: In XLID41; causes reduced binding and recycling of RAB3A.
up seq anno comments: Rab GDP dissociation inhibitor alpha
up seq anno feature ids: PRO_0000056671
up seq anno feature ids: VAR_008130
up seq anno feature ids: VAR_008131

9606:EBLN1
gene id: 9606:EBLN1
uniprot id: P0CF75
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno comments: Disordered
up seq anno comments: Endogenous Bornavirus-like nucleoprotein 1
up seq anno feature ids: PRO_0000393911

9606:PCGF6
gene id: 9606:PCGF6
uniprot id: Q9BYE7
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Abolishes phosphorylation.
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Does not abolish phosphorylation.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno comments: Polycomb group RING finger protein 6
up seq anno comments: Pro residues
up seq anno comments: RING-type
up seq anno feature ids: PRO_0000055989
up seq anno feature ids: VAR_054312
up seq anno feature ids: VSP_042007
up seq anno feature ids: VSP_042008

9606:REXO2
gene id: 9606:REXO2
uniprot id: Q9Y3B8
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: 50% reduction in 3'-to-5'exoribonuclease activity.
up seq anno comments: Disruption of homodimerization and loss of 3'-to-5'exoribonuclease activity; when associated with A-178 or A-215.
up seq anno comments: Disruption of homodimerization and loss of 3'-to-5'exoribonuclease activity; when associated with A-178.
up seq anno comments: Disruption of homodimerization and loss of 3'-to-5'exoribonuclease activity; when associated with A-179.
up seq anno comments: Disruption of homodimerization and loss of 3'-to-5'exoribonuclease activity; when associated with R-179 or A-179.
up seq anno comments: Exonuclease
up seq anno comments: Important for dinucleotide binding
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of 3'-to-5'exoribonuclease activity.
up seq anno comments: Mitochondrion
up seq anno comments: N6-acetyllysine
up seq anno comments: No effect on 3'-to-5'exoribonuclease activity.
up seq anno comments: Oligoribonuclease, mitochondrial
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno feature ids: PRO_0000020273
up seq anno feature ids: VSP_003775
up seq anno feature ids: VSP_054954

9606:POLG
gene id: 9606:POLG
uniprot id: E5KNU5
uniprot id: P54098
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: DNA polymerase subunit gamma-1
up seq anno comments: DNA-directed DNA polymerase family A palm
up seq anno comments: Disordered
up seq anno comments: In LS.
up seq anno comments: In MTDPS4A.
up seq anno comments: In MTDPS4B.
up seq anno comments: In PEOA1 and MTDPS4A; unknown pathological significance.
up seq anno comments: In PEOA1.
up seq anno comments: In PEOA1; can underlie parkinsonism; 45-fold decrease in apparent binding affinity for the incoming nucleoside triphosphate; 2-fold less accurate for basepair substitutions than wild-type.
up seq anno comments: In PEOB1 and MTDPS4A.
up seq anno comments: In PEOB1 and MTDPS4B.
up seq anno comments: In PEOB1, MTDPS4A and MTDPS4B.
up seq anno comments: In PEOB1, MTDPS4A, MTDPS4B and LS.
up seq anno comments: In PEOB1, SANDO, SCAE and MTDPS4A; results in clearly decreased activity, DNA binding and processivity of the polymerase.
up seq anno comments: In PEOB1.
up seq anno comments: In PEOB1; also found in SANDO.
up seq anno comments: In PEOB1; sporadic case.
up seq anno comments: In PEOB1; sporadic case; also in SANDO.
up seq anno comments: In PEOB1; unknown pathological significance.
up seq anno comments: In PEOB1; with absence of progressive external ophthalmoplegia.
up seq anno comments: In SANDO and PEOB1; sporadic case.
up seq anno comments: In SANDO and SCAE.
up seq anno comments: In SANDO, SCAE and MTDPS4A; unknown pathological significance.
up seq anno comments: In SANDO.
up seq anno comments: In SANDO; shows DNA binding affinity and processivities similar to the controls.
up seq anno comments: In SANDO; sporadic case.
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000101270
up seq anno feature ids: VAR_012153
up seq anno feature ids: VAR_012154
up seq anno feature ids: VAR_012155
up seq anno feature ids: VAR_012156
up seq anno feature ids: VAR_014904
up seq anno feature ids: VAR_014905
up seq anno feature ids: VAR_014906
up seq anno feature ids: VAR_014907
up seq anno feature ids: VAR_014908
up seq anno feature ids: VAR_014909
up seq anno feature ids: VAR_014910
up seq anno feature ids: VAR_014911
up seq anno feature ids: VAR_019265
up seq anno feature ids: VAR_019266
up seq anno feature ids: VAR_019267
up seq anno feature ids: VAR_023663
up seq anno feature ids: VAR_023664
up seq anno feature ids: VAR_023665
up seq anno feature ids: VAR_023666
up seq anno feature ids: VAR_023667
up seq anno feature ids: VAR_023668
up seq anno feature ids: VAR_023669
up seq anno feature ids: VAR_023670
up seq anno feature ids: VAR_023671
up seq anno feature ids: VAR_023672
up seq anno feature ids: VAR_023673
up seq anno feature ids: VAR_023674
up seq anno feature ids: VAR_023675

9606:LCE2C
gene id: 9606:LCE2C
uniprot id: Q5TA81
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Region
up seq anno comments: Disordered
up seq anno comments: Late cornified envelope protein 2C
up seq anno feature ids: PRO_0000235331

9606:MON1A
gene id: 9606:MON1A
uniprot id: Q86VX9
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In isoform 2, isoform 3 and isoform 4.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 5, isoform 2 and isoform 3.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Vacuolar fusion protein MON1 homolog A
up seq anno feature ids: PRO_0000285761
up seq anno feature ids: VSP_059430
up seq anno feature ids: VSP_059431
up seq anno feature ids: VSP_059432
up seq anno feature ids: VSP_059433

9606:ZDHHC20
gene id: 9606:ZDHHC20
uniprot id: B4DRN8
uniprot id: Q5W0Z9
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: DHHC
up seq anno comments: Helical
up seq anno comments: Important for selectivity toward medium-length fatty acids
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Loss of catalytic activity.
up seq anno comments: Lumenal
up seq anno comments: Mildly reduced catalytic activity.
up seq anno comments: Moderately reduced catalytic activity. Enhances activity with acyl-CoA with C18 and C20 fatty acid chains.
up seq anno comments: Palmitoyltransferase DHHC
up seq anno comments: Palmitoyltransferase ZDHHC20
up seq anno comments: Phosphoserine
up seq anno comments: S-palmitoyl cysteine intermediate
up seq anno comments: Strongly reduced catalytic activity.
up seq anno comments: Strongly reduced catalytic activity. Enhances activity with acyl-CoA with C12 and C14 fatty acid chains.
up seq anno feature ids: PRO_0000212906
up seq anno feature ids: VSP_016276
up seq anno feature ids: VSP_016277
up seq anno feature ids: VSP_040481
up seq anno feature ids: VSP_040482
up seq anno feature ids: VSP_056002

9606:BRD7
gene id: 9606:BRD7
uniprot id: Q9NPI1
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Bromo
up seq anno comments: Bromodomain-containing protein 7
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: N6-acetyllysine
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000227664
up seq anno feature ids: VSP_017564

9606:SPMIP6
gene id: 9606:SPMIP6
uniprot id: Q8NCR6
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2, isoform 3, isoform 4 and isoform 5.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Predominantly cytoplasmic rather than nuclear localization.
up seq anno comments: Sperm microtubule inner protein 6
up seq anno feature ids: PRO_0000296258
up seq anno feature ids: VAR_034626
up seq anno feature ids: VSP_027169
up seq anno feature ids: VSP_027170
up seq anno feature ids: VSP_027171
up seq anno feature ids: VSP_042861

9606:PPP1R3A
gene id: 9606:PPP1R3A
uniprot id: Q16821
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: CBM21
up seq anno comments: Can be associated with insulin resistance.
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In T2D.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: PP1-binding motif
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by GSK3
up seq anno comments: Phosphoserine; by PKA
up seq anno comments: Phosphoserine; by PKA and ISPK
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Protein phosphatase 1 regulatory subunit 3A
up seq anno feature ids: PRO_0000071500
up seq anno feature ids: VAR_019697
up seq anno feature ids: VAR_019698
up seq anno feature ids: VAR_019699
up seq anno feature ids: VAR_027929
up seq anno feature ids: VAR_027930
up seq anno feature ids: VAR_027931
up seq anno feature ids: VAR_027932
up seq anno feature ids: VAR_027933
up seq anno feature ids: VAR_027934
up seq anno feature ids: VAR_036287
up seq anno feature ids: VAR_057128
up seq anno feature ids: VSP_011585
up seq anno feature ids: VSP_011586

9606:MRGPRX4
gene id: 9606:MRGPRX4
uniprot id: Q96LA9
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: Mas-related G-protein coupled receptor member X4
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000069783
up seq anno feature ids: VAR_019435
up seq anno feature ids: VAR_019436
up seq anno feature ids: VAR_019437
up seq anno feature ids: VAR_019438
up seq anno feature ids: VAR_025506
up seq anno feature ids: VAR_049419

9606:RAD17
gene id: 9606:RAD17
uniprot id: O75943
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Abolishes interaction with RAD1; when associated with D-646.
up seq anno comments: Abolishes interaction with RAD1; when associated with D-656.
up seq anno comments: Basic and acidic residues
up seq anno comments: Cell cycle checkpoint protein RAD17
up seq anno comments: Disordered
up seq anno comments: Impairs phosphorylation on S-656. Abolishes interaction with the RAD1-RAD9-HUS1 complex; does not affect interaction with RFC3.
up seq anno comments: Impairs phosphorylation. Impairs interaction with DNA and the RAD1-RAD9-HUS1 complex; does not affect interaction with RFC3.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Interaction with MCM7
up seq anno comments: No effect on phosphorylation by ATR.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by ATR and ATM
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Reduces by 50% phosphorylation by ATR, and abolishes interaction with RAD1. Abolishes phosphorylation by ATR and checkpoint activation without affecting interaction with RFC3, RFC4, ATM or ATR; when associated with A-646.
up seq anno comments: Reduces by 50% phosphorylation by ATR, and abolishes interaction with RAD1. Abolishes phosphorylation by ATR and checkpoint activation without affecting interaction with RFC3, RFC4, ATM or ATR; when associated with A-656.
up seq anno feature ids: PRO_0000209948
up seq anno feature ids: VAR_021574
up seq anno feature ids: VAR_021575
up seq anno feature ids: VAR_021576
up seq anno feature ids: VAR_021577
up seq anno feature ids: VSP_013306
up seq anno feature ids: VSP_013307
up seq anno feature ids: VSP_013308
up seq anno feature ids: VSP_013309

9606:UFC1
gene id: 9606:UFC1
uniprot id: Q9Y3C8
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Does not affect neither UBA5-binding nor thioester formation with UFM1.
up seq anno comments: Glycyl thioester intermediate
up seq anno comments: Impairs binding to UBA5 and thioester formation with UFM1.
up seq anno comments: In NEDSG; decreased ability to form thioester bond with UFM1; decreased protein ufmylation.
up seq anno comments: Instead of the formation of an intermediate complex with a thiol ester bond between UFC1 (E2-like enzyme) and UFM1 (substrate), a stable complex with an O-ester bond is formed.
up seq anno comments: Ubiquitin-fold modifier-conjugating enzyme 1
up seq anno feature ids: PRO_0000082613
up seq anno feature ids: VAR_028312
up seq anno feature ids: VAR_081216
up seq anno feature ids: VAR_081217

9606:NODAL
gene id: 9606:NODAL
uniprot id: Q96S42
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Propeptide
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: In HTX5.
up seq anno comments: In HTX5; decrease in signal transduction.
up seq anno comments: In HTX5; likely benign variant; decrease in signal transduction.
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: Interchain
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Nodal homolog
up seq anno feature ids: PRO_0000033998
up seq anno feature ids: PRO_0000033999
up seq anno feature ids: VAR_015111
up seq anno feature ids: VAR_036202
up seq anno feature ids: VAR_038193
up seq anno feature ids: VAR_038194
up seq anno feature ids: VAR_062281
up seq anno feature ids: VAR_062282
up seq anno feature ids: VAR_062283

9606:TTF1
gene id: 9606:TTF1
uniprot id: A0A087WY09
uniprot id: Q15361
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: May be involved in interaction with ARF
up seq anno comments: Myb-like
up seq anno comments: Myb-like 1
up seq anno comments: Myb-like 2
up seq anno comments: N-terminal region (NRD)
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: Transcription termination factor 1
up seq anno feature ids: PRO_0000250472
up seq anno feature ids: VAR_027563
up seq anno feature ids: VAR_027564
up seq anno feature ids: VAR_027565
up seq anno feature ids: VAR_027566
up seq anno feature ids: VAR_027567
up seq anno feature ids: VAR_050201
up seq anno feature ids: VAR_061363

9606:FAM185A
gene id: 9606:FAM185A
uniprot id: Q8N0U4
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Protein FAM185A
up seq anno feature ids: PRO_0000321830
up seq anno feature ids: VAR_039356
up seq anno feature ids: VAR_084592
up seq anno feature ids: VSP_031804
up seq anno feature ids: VSP_037078

9606:CD59
gene id: 9606:CD59
uniprot id: P13987
uniprot id: Q6FHM9
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Lipid Binding
up seq anno labels: Mutagenesis Site
up seq anno labels: Propeptide
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Almost complete loss of function. Lysis.
up seq anno comments: CD59 glycoprotein
up seq anno comments: Complete loss of function. Lysis.
up seq anno comments: GPI-anchor amidated asparagine
up seq anno comments: In HACD59.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of function. Lysis.
up seq anno comments: Loss of glycation mediated inactivation.
up seq anno comments: N-linked (Glc) (glycation) lysine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No loss of function.
up seq anno comments: O-linked (GalNAc...) threonine
up seq anno comments: Removed in mature form
up seq anno comments: Some loss of function. Some lysis.
up seq anno comments: UPAR/Ly6
up seq anno feature ids: PRO_0000036108
up seq anno feature ids: PRO_0000036109
up seq anno feature ids: PRO_5014310456
up seq anno feature ids: VAR_070124
up seq anno feature ids: VSP_060064

9606:TGM1
gene id: 9606:TGM1
uniprot id: P22735
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: In ARCI1.
up seq anno comments: In ARCI1; inhibits cell proliferation.
up seq anno comments: In ARCI1; skin phenotype consistent with lamellar ichthyosis.
up seq anno comments: In ARCI1; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma.
up seq anno comments: In isoform 2.
up seq anno comments: Membrane anchorage region
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Protein-glutamine gamma-glutamyltransferase K
up seq anno feature ids: PRO_0000213701
up seq anno feature ids: VAR_007476
up seq anno feature ids: VAR_007477
up seq anno feature ids: VAR_007478
up seq anno feature ids: VAR_007479
up seq anno feature ids: VAR_007480
up seq anno feature ids: VAR_007481
up seq anno feature ids: VAR_015220
up seq anno feature ids: VAR_015221
up seq anno feature ids: VAR_015222
up seq anno feature ids: VAR_020918
up seq anno feature ids: VAR_020919
up seq anno feature ids: VAR_020920
up seq anno feature ids: VAR_024660
up seq anno feature ids: VAR_029268
up seq anno feature ids: VAR_052550
up seq anno feature ids: VAR_052551
up seq anno feature ids: VAR_052552
up seq anno feature ids: VAR_055374
up seq anno feature ids: VAR_058638
up seq anno feature ids: VAR_058639
up seq anno feature ids: VAR_058640
up seq anno feature ids: VAR_058641
up seq anno feature ids: VAR_058642
up seq anno feature ids: VAR_058643
up seq anno feature ids: VAR_058644
up seq anno feature ids: VAR_058645
up seq anno feature ids: VAR_058646
up seq anno feature ids: VAR_058647
up seq anno feature ids: VAR_058648
up seq anno feature ids: VAR_058649
up seq anno feature ids: VAR_058650
up seq anno feature ids: VAR_058651
up seq anno feature ids: VAR_058652
up seq anno feature ids: VAR_058653
up seq anno feature ids: VAR_058654
up seq anno feature ids: VAR_058655
up seq anno feature ids: VAR_058656
up seq anno feature ids: VAR_058657
up seq anno feature ids: VAR_058658

9606:FBXW8
gene id: 9606:FBXW8
uniprot id: Q8N3Y1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: F-box
up seq anno comments: F-box/WD repeat-containing protein 8
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno comments: WD 1
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno feature ids: PRO_0000050997
up seq anno feature ids: VAR_057597
up seq anno feature ids: VAR_057598
up seq anno feature ids: VAR_060326
up seq anno feature ids: VAR_062096
up seq anno feature ids: VSP_008501

9606:NPAS1
gene id: 9606:NPAS1
uniprot id: Q99742
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Neuronal PAS domain-containing protein 1
up seq anno comments: PAC
up seq anno comments: PAS 1
up seq anno comments: PAS 2
up seq anno comments: Polar residues
up seq anno comments: bHLH
up seq anno feature ids: PRO_0000127404
up seq anno feature ids: VSP_054280
up seq anno feature ids: VSP_054281
up seq anno feature ids: VSP_054282

9606:ITGAE
gene id: 9606:ITGAE
uniprot id: P38570
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: FG-GAP 1
up seq anno comments: FG-GAP 2
up seq anno comments: FG-GAP 3
up seq anno comments: FG-GAP 4
up seq anno comments: FG-GAP 5
up seq anno comments: FG-GAP 6
up seq anno comments: FG-GAP 7
up seq anno comments: GFFKR motif
up seq anno comments: Helical
up seq anno comments: Integrin alpha-E
up seq anno comments: Integrin alpha-E heavy chain
up seq anno comments: Integrin alpha-E light chain
up seq anno comments: Loss of E-cadherin binding.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: VWFA
up seq anno comments: X-domain (extra domain)
up seq anno feature ids: PRO_0000016283
up seq anno feature ids: PRO_0000016284
up seq anno feature ids: PRO_0000016285
up seq anno feature ids: VAR_008884
up seq anno feature ids: VAR_008885
up seq anno feature ids: VAR_020037
up seq anno feature ids: VAR_034025
up seq anno feature ids: VAR_054889
up seq anno feature ids: VAR_054890
up seq anno feature ids: VAR_054891

9606:LATS2
gene id: 9606:LATS2
uniprot id: Q9NRM7
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: AGC-kinase C-terminal
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Fails to localize at the centromere during interphase.
up seq anno comments: In a lung adenocarcinoma sample; somatic mutation.
up seq anno comments: Loss of kinase activity, autophosphorylation and tumor suppressor activity.
up seq anno comments: Loss of tumor suppressor activity.
up seq anno comments: PPxY motif
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by AURKA
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Serine/threonine-protein kinase LATS2
up seq anno comments: UBA
up seq anno feature ids: PRO_0000086234
up seq anno feature ids: VAR_019789
up seq anno feature ids: VAR_040669
up seq anno feature ids: VAR_040670
up seq anno feature ids: VAR_040671
up seq anno feature ids: VAR_040672
up seq anno feature ids: VAR_040673
up seq anno feature ids: VAR_047077

9606:KHK
gene id: 9606:KHK
uniprot id: A0A140VJM6
uniprot id: C9JDL1
uniprot id: P50053
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Carbohydrate kinase PfkB
up seq anno comments: In FRUCT; loss of ketohexokinase function; insoluble.
up seq anno comments: In FRUCT; no effect on ketohexokinase function; decreases enzyme activity but no effect in substrate affinity; decreases thermal stability.
up seq anno comments: In isoform A.
up seq anno comments: Ketohexokinase
up seq anno feature ids: PRO_0000080088
up seq anno feature ids: VAR_006072
up seq anno feature ids: VAR_006073
up seq anno feature ids: VAR_006074
up seq anno feature ids: VSP_004669

9606:YIPF6
gene id: 9606:YIPF6
uniprot id: Q96EC8
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Lumenal
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Protein YIPF6
up seq anno comments: Removed
up seq anno feature ids: PRO_0000242668
up seq anno feature ids: VAR_026855
up seq anno feature ids: VSP_047121

9606:SERPINH1
gene id: 9606:SERPINH1
uniprot id: A8K259
uniprot id: P50454
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno comments: In OI10.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-succinyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Prevents secretion from ER
up seq anno comments: Reactive bond homolog
up seq anno comments: Serpin
up seq anno comments: Serpin H1
up seq anno feature ids: PRO_0000032520
up seq anno feature ids: PRO_5002725468
up seq anno feature ids: VAR_028445
up seq anno feature ids: VAR_063602

9606:METTL2B
gene id: 9606:METTL2B
uniprot id: Q6P1Q9
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno comments: tRNA N(3)-methylcytidine methyltransferase METTL2B
up seq anno feature ids: PRO_0000328847
up seq anno feature ids: VAR_042547
up seq anno feature ids: VAR_042548
up seq anno feature ids: VAR_042549
up seq anno feature ids: VAR_042550
up seq anno feature ids: VAR_059465
up seq anno feature ids: VSP_032816

9606:OTUD1
gene id: 9606:OTUD1
uniprot id: Q5VV17
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolished deubiquitinase activity.
up seq anno comments: Basic and acidic residues
up seq anno comments: Cys-loop
up seq anno comments: Disordered
up seq anno comments: His-loop
up seq anno comments: Nucleophile
up seq anno comments: OTU
up seq anno comments: OTU domain-containing protein 1
up seq anno comments: UIM
up seq anno comments: Variable-loop
up seq anno feature ids: PRO_0000271018

9606:LOC102724428
gene id: 9606:LOC102724428
uniprot id: A0A0B4J2F2
uniprot id: P57059
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Decreased kinase activity without affecting much autophosphorylation status.
up seq anno comments: Disordered
up seq anno comments: Does not autophosphorylation and kinase activity.
up seq anno comments: Impaired autophosphorylation and kinase activity.
up seq anno comments: In DEE30; no change in subcellular location.
up seq anno comments: In a glioblastoma multiforme sample; somatic mutation.
up seq anno comments: In a metastatic melanoma sample; somatic mutation.
up seq anno comments: Loss of interaction with 14-3-3 proteins in response to cAMP signaling and, thus, still able to inhibit TORC activity. Resistant to inhibition by cAMP signaling and, thus, still able to inhibit TORC activity; when associated with A-473.
up seq anno comments: Loss of kinase activity.
up seq anno comments: Phosphoserine; by PKA
up seq anno comments: Phosphoserine; by autocatalysis
up seq anno comments: Phosphothreonine; by CaMK1
up seq anno comments: Phosphothreonine; by LKB1 and GSK3-beta
up seq anno comments: Phosphothreonine; by PKA
up seq anno comments: Polar residues
up seq anno comments: Prevents phosphorylation and activation by STK11/LKB1 complex. Reduced inhibition of CRTC3-mediated transcriptional activity.
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Putative serine/threonine-protein kinase SIK1B
up seq anno comments: RK-rich region; required for cAMP responsiveness and nuclear localization
up seq anno comments: Reduced but still present interaction with 14-3-3 proteins in response to cAMP signaling and, thus, still able to inhibit TORC activity.
up seq anno comments: Reduced but still present interaction with 14-3-3 proteins in response to cAMP signaling and, thus, still able to inhibit TORC activity. Resistant to inhibition by cAMP signaling and, thus, still able to inhibit TORC activity; when associated with A-575.
up seq anno comments: Serine/threonine-protein kinase SIK1
up seq anno comments: Strongly reduced but still present interaction with 14-3-3 proteins in response to cAMP signaling and, thus, still able to inhibit TORC activity.
up seq anno comments: UBA
up seq anno feature ids: PRO_0000086659
up seq anno feature ids: PRO_0000444512
up seq anno feature ids: VAR_021255
up seq anno feature ids: VAR_033910
up seq anno feature ids: VAR_041087
up seq anno feature ids: VAR_041088
up seq anno feature ids: VAR_041089
up seq anno feature ids: VAR_041090
up seq anno feature ids: VAR_041091
up seq anno feature ids: VAR_041092
up seq anno feature ids: VAR_073701
up seq anno feature ids: VAR_073702
up seq anno feature ids: VAR_073703

9606:SPON1
gene id: 9606:SPON1
uniprot id: Q9HCB6
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: C-linked (Man) tryptophan
up seq anno comments: C-linked (Man) tryptophan; partial
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Reelin
up seq anno comments: Spondin
up seq anno comments: Spondin-1
up seq anno comments: TSP type-1 1
up seq anno comments: TSP type-1 2
up seq anno comments: TSP type-1 3
up seq anno comments: TSP type-1 4
up seq anno comments: TSP type-1 5
up seq anno comments: TSP type-1 6
up seq anno feature ids: PRO_0000035865

9606:GRB7
gene id: 9606:GRB7
uniprot id: A0A0S2Z4F6
uniprot id: Q14451
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes Ras activity increase and ERK1/2 phosphorylation.
up seq anno comments: Abolishes dimerization. Abolishes activation of HRAS.
up seq anno comments: Abolishes phosphoinositide binding.
up seq anno comments: Disordered
up seq anno comments: Global loss of tyrosine phosphorylation. Abolishes interaction with FHL2 and HAX1.
up seq anno comments: Growth factor receptor-bound protein 7
up seq anno comments: Impairs phosphotyrosine binding by SH2 domain.
up seq anno comments: Important for dimerization and for HRAS activation
up seq anno comments: Important for lipid binding and for stimulation of cell migration
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: PH
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine; by FAK1
up seq anno comments: Pro residues
up seq anno comments: Ras-associating
up seq anno comments: SH2
up seq anno feature ids: PRO_0000150344
up seq anno feature ids: VSP_035500
up seq anno feature ids: VSP_035501
up seq anno feature ids: VSP_041665
up seq anno feature ids: VSP_041666

9606:CPEB3
gene id: 9606:CPEB3
uniprot id: B3KXC1
uniprot id: Q5QP71
uniprot id: Q8NE35
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes RNA binding.
up seq anno comments: Abolishes nuclear export; when associated with A-349.
up seq anno comments: Abolishes nuclear export; when associated with A-353.
up seq anno comments: Asymmetric dimethylarginine
up seq anno comments: Cleavage; by CAPN2
up seq anno comments: Cytoplasmic polyadenylation element-binding protein 3
up seq anno comments: Disordered
up seq anno comments: Does not impair RNA binding.
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: RRM
up seq anno comments: RRM 1
up seq anno comments: RRM 2
up seq anno comments: Reduced RNA binding.
up seq anno comments: Required for RNA-binding activity
up seq anno feature ids: PRO_0000269261
up seq anno feature ids: VAR_029776
up seq anno feature ids: VSP_022034
up seq anno feature ids: VSP_022035

9606:TTC29
gene id: 9606:TTC29
uniprot id: A0A140VK62
uniprot id: E7EQ14
uniprot id: G5E9Z5
uniprot id: Q8NA56
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In SPGF42.
up seq anno comments: In SPGF42; loss of protein expression.
up seq anno comments: In isoform 2.
up seq anno comments: TPR 1
up seq anno comments: TPR 2
up seq anno comments: TPR 3
up seq anno comments: TPR 4
up seq anno comments: TPR 5
up seq anno comments: TPR 6
up seq anno comments: TPR 7
up seq anno comments: Tetratricopeptide repeat protein 29
up seq anno feature ids: PRO_0000294435
up seq anno feature ids: VAR_033179
up seq anno feature ids: VAR_033180
up seq anno feature ids: VAR_033181
up seq anno feature ids: VAR_083646
up seq anno feature ids: VAR_083647
up seq anno feature ids: VSP_026638

9606:CFAP221
gene id: 9606:CFAP221
uniprot id: Q4G0U5
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Cilia- and flagella-associated protein 221
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Interaction with calmodulin
up seq anno feature ids: PRO_0000320614
up seq anno feature ids: VAR_039232
up seq anno feature ids: VAR_039233
up seq anno feature ids: VSP_039316
up seq anno feature ids: VSP_039317
up seq anno feature ids: VSP_039318
up seq anno feature ids: VSP_039319
up seq anno feature ids: VSP_039320
up seq anno feature ids: VSP_039321

9606:SIGLEC14
gene id: 9606:SIGLEC14
uniprot id: Q08ET2
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Ig-like C2-type 1
up seq anno comments: Ig-like C2-type 2
up seq anno comments: Ig-like V-type
up seq anno comments: Loss of interaction with TYROBP.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Sialic acid-binding Ig-like lectin 14
up seq anno feature ids: PRO_0000309314

9606:ANTKMT
gene id: 9606:ANTKMT
uniprot id: J3KMW5
uniprot id: Q9BQD7
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Transmembrane
up seq anno comments: Abolished methyltransferase activity.
up seq anno comments: Abolished mitochondrial localization.
up seq anno comments: Adenine nucleotide translocase lysine N-methyltransferase
up seq anno comments: Disordered
up seq anno comments: Does not affect mitochondrial localization.
up seq anno comments: Helical
up seq anno comments: Methyltransferase (MTase)
up seq anno comments: N-terminal sequence (NTS)
up seq anno comments: Pre-methyltransferase (preMT)
up seq anno feature ids: PRO_0000263721

9606:BBIP1
gene id: 9606:BBIP1
uniprot id: A8MTZ0
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno comments: BBSome-interacting protein 1
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno feature ids: PRO_0000342378
up seq anno feature ids: VSP_045981
up seq anno feature ids: VSP_046433
up seq anno feature ids: VSP_046434

9606:GABPB1
gene id: 9606:GABPB1
uniprot id: Q06547
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: ANK 1
up seq anno comments: ANK 2
up seq anno comments: ANK 3
up seq anno comments: ANK 4
up seq anno comments: ANK 5
up seq anno comments: GA-binding protein subunit beta-1
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: Minor effect upon interaction with HCFC1 and transcriptional activation. Loss of activity; when associated with A-297; A-298 and A-299, or with A-307 and A-310.
up seq anno comments: Minor reduction in transcriptional activation. Moderate reduction in activity; when associated with A-270 and A-271.
up seq anno comments: Minor reduction in transcriptional activation. Moderate reduction in activity; when associated with A-305 and A-306.
up seq anno comments: Minor reduction in transcriptional activation; when associated with A-295 or A-305 and A-306.
up seq anno comments: Moderately reduces interaction with HCFC1 and transcriptional activation. Loss of activity; when associated with A-273 and A-275.
up seq anno comments: N-acetylserine
up seq anno comments: N6-acetyllysine
up seq anno comments: No effect on transcriptional activation. Minor reduction in activity; when associated with A-270 and A-271.
up seq anno comments: Removed
up seq anno comments: Strongly reduces interaction with HCFC1 and transcriptional activation. Loss of activity; when associated with A-264 and A-265, or A-273 and A-275.
up seq anno comments: Strongly reduces interaction with HCFC1 and transcriptional activation. Loss of activity; when associated with A-297; A-298 and A-299, or with A-307 and A-310.
up seq anno comments: Transcription activation and HCFC1 interaction
up seq anno feature ids: PRO_0000066993
up seq anno feature ids: VAR_035613
up seq anno feature ids: VSP_000275
up seq anno feature ids: VSP_009337

9606:ACTN2
gene id: 9606:ACTN2
uniprot id: P35609
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Actin-binding
up seq anno comments: Alpha-actinin-2
up seq anno comments: Calponin-homology (CH) 1
up seq anno comments: Calponin-homology (CH) 2
up seq anno comments: EF-hand 1
up seq anno comments: EF-hand 2
up seq anno comments: In CMD1AA.
up seq anno comments: In CMH23 and CMD1AA.
up seq anno comments: In CMH23.
up seq anno comments: In CMYP8.
up seq anno comments: In CMYP8; unknown pathological significance.
up seq anno comments: In MPD6.
up seq anno comments: In MPD6; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: Phosphothreonine
up seq anno comments: Spectrin 1
up seq anno comments: Spectrin 2
up seq anno comments: Spectrin 3
up seq anno comments: Spectrin 4
up seq anno feature ids: PRO_0000073435
up seq anno feature ids: VAR_033487
up seq anno feature ids: VAR_054628
up seq anno feature ids: VAR_071970
up seq anno feature ids: VAR_071971
up seq anno feature ids: VAR_071972
up seq anno feature ids: VAR_071973
up seq anno feature ids: VAR_074292
up seq anno feature ids: VAR_083364
up seq anno feature ids: VAR_083365
up seq anno feature ids: VAR_083366
up seq anno feature ids: VAR_083367
up seq anno feature ids: VSP_054923

9606:IGF2BP1
gene id: 9606:IGF2BP1
uniprot id: Q9NZI8
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 50-fold decrease in RNA-binding affinity, decreased location in cytoplasmic RNP, increased nuclear location; when associated with 213-E-L-214 and 294-E-L-295.
up seq anno comments: 50-fold decrease in RNA-binding affinity, decreased location in cytoplasmic RNP, increased nuclear location; when associated with 213-E-L-214 and 423-E-L-424.
up seq anno comments: 50-fold decrease in RNA-binding affinity, decreased location in cytoplasmic RNP, increased nuclear location; when associated with 294-E-L-295 and 423-E-L-424.
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Insulin-like growth factor 2 mRNA-binding protein 1
up seq anno comments: KH 1
up seq anno comments: KH 2
up seq anno comments: KH 3
up seq anno comments: KH 4
up seq anno comments: Loss of binding to RBPR and loss of interaction with m6A-modified mRNA; when associated with 423-E-E-424.
up seq anno comments: Loss of binding to RBPR and loss of interaction with m6A-modified mRNA; when associated with 505-E-E-506.
up seq anno comments: Necessary for interaction with ELAVL4 and binding to TAU mRNA
up seq anno comments: Partial reduction in interaction with m6A-modified mRNA; when associated with E-213.
up seq anno comments: Partial reduction in interaction with m6A-modified mRNA; when associated with E-294.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: RRM 1
up seq anno comments: RRM 2
up seq anno comments: Sufficient for nuclear export
up seq anno feature ids: PRO_0000282533
up seq anno feature ids: VSP_045366

9606:GTF2B
gene id: 9606:GTF2B
uniprot id: Q00403
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: 1
up seq anno comments: 2
up seq anno comments: Abolishes autoacetylation, represses transcription activity, does not inhibit its association with chromatin to promoter-specific regions and decreases the association of GTF2F1 with chromatin to promoter-specific regions.
up seq anno comments: Core promoter DNA-binding
up seq anno comments: Decreases BREd-dependent pre-initiation complex formation.
up seq anno comments: Defects in transcription start site selection. Supports a level of transcription equivalent to wild-type.
up seq anno comments: Does not inhibit interaction with TBP. Inhibits the recruitment of RNA polymerase II into the initiation complex.
up seq anno comments: Does not inhibit the formation of the TATA box-bound TBP ternary complex.
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: Inhibits interaction with RNA polymerase II; when associated with E-286 and E-290.
up seq anno comments: Inhibits interaction with RNA polymerase II; when associated with E-286 and E-295.
up seq anno comments: Inhibits interaction with RNA polymerase II; when associated with E-290 and E-295.
up seq anno comments: Inhibits interaction with SSU72; when associated with E-185 or E-189. Inhibits interaction with VP16; when associated with E-185. Inhibits RNA pol II transcription activation induced by VP16 but does not affect basal transcription; when associated with E-185.
up seq anno comments: Inhibits interaction with SSU72; when associated with E-193. Reduces interaction with SSU72; when associated with E-200. Inhibits interaction with VP16; when associated with E-200. Inhibits RNA pol II transcription activation induced by VP16 but does not affect basal transcription; when associated with E-200.
up seq anno comments: Inhibits interaction with TBP.
up seq anno comments: N6-acetyllysine; by autocatalysis
up seq anno comments: Necessary for TATA box-bound TBP complex formation
up seq anno comments: Partial loss of HIV-1 Vpr binding.
up seq anno comments: Phosphoserine
up seq anno comments: Reduces DNA-binding.
up seq anno comments: Reduces interaction with SSU72; when associated with E-185 or E-189. Inhibits interaction with VP16; when associated with E-189. Inhibits RNA pol II transcription activation induced by VP16 but does not affect basal transcription; when associated with E-189.
up seq anno comments: Reduces interaction with SSU72; when associated with E-193 or E-200. Inhibits interaction with VP16; when associated with E-193. Inhibits RNA pol II transcription activation induced by VP16 but does not affect basal transcription; when associated with E-193.
up seq anno comments: Reduces interaction with VP16; when associated with L-185.
up seq anno comments: Reduces interaction with VP16; when associated with L-189.
up seq anno comments: Reduces interaction with VP16; when associated with L-196.
up seq anno comments: Reduces interaction with VP16; when associated with L-200.
up seq anno comments: Reduces the formation of the TATA box-bound TBP ternary complex.
up seq anno comments: TFIIB-type
up seq anno comments: Transcription initiation factor IIB
up seq anno feature ids: PRO_0000119293
up seq anno feature ids: VAR_011977
up seq anno feature ids: VAR_035722

9606:SLC40A1
gene id: 9606:SLC40A1
uniprot id: Q9NP59
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: About 90% loss of HAMP binding.
up seq anno comments: About 95% loss of HAMP binding.
up seq anno comments: Associated with mild anemia and a tendency to iron loading. Prevents hepcidin/HAMP-induced degradation. Protects against severe malaria disease.
up seq anno comments: Complete loss of HAMP-binding.
up seq anno comments: Complete loss of HAMP-dependent ubiquitination. Does not affect protein stability. Does not affect cell surface localization.
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In HFE4.
up seq anno comments: In HFE4; Does not affect protein stability. Does not affect cell surface localization. Increases iron export activity.
up seq anno comments: In HFE4; Loss of iron export activity.
up seq anno comments: In HFE4; Reduces protein stability. Loss of cell surface localization. Loss of iron export activity. Increases intracellular manganese.
up seq anno comments: In HFE4; Reduces protein stability. Loss of cell surface localization. Loss of iron export function. Increases intracellular manganese.
up seq anno comments: In iron overload.
up seq anno comments: Loss of HAMP-induced endocytosis.
up seq anno comments: Loss of iron export activity.
up seq anno comments: Loss of iron export activity. Loss of cell surface localization. Increases intracellular manganese.
up seq anno comments: Loss of iron export function.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No loss of ubiquitination; when associated with R-236.
up seq anno comments: No loss of ubiquitination; when associated with R-253.
up seq anno comments: Reduces protein stability.
up seq anno comments: Reduces protein stability. Loss of cell surface localization. Loss of iron export activity. Increases intracellular manganese.
up seq anno comments: Solute carrier family 40 member 1
up seq anno feature ids: PRO_0000191310
up seq anno feature ids: VAR_018980
up seq anno feature ids: VAR_020295
up seq anno feature ids: VAR_020296
up seq anno feature ids: VAR_022594
up seq anno feature ids: VAR_022595
up seq anno feature ids: VAR_022596
up seq anno feature ids: VAR_022597
up seq anno feature ids: VAR_022598
up seq anno feature ids: VAR_022599
up seq anno feature ids: VAR_029299
up seq anno feature ids: VAR_030057
up seq anno feature ids: VAR_030058
up seq anno feature ids: VAR_030059
up seq anno feature ids: VAR_030060
up seq anno feature ids: VAR_030061
up seq anno feature ids: VAR_030062
up seq anno feature ids: VAR_030063
up seq anno feature ids: VAR_030064
up seq anno feature ids: VAR_030065
up seq anno feature ids: VAR_030066
up seq anno feature ids: VAR_030067

9606:PRICKLE1
gene id: 9606:PRICKLE1
uniprot id: B3KVG3
uniprot id: B3KVG6
uniprot id: Q96MT3
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Abolishes localization to the nuclear membrane.
up seq anno comments: Basic residues
up seq anno comments: Cysteine methyl ester
up seq anno comments: Disordered
up seq anno comments: In EPM1B.
up seq anno comments: In EPM1B; affects interaction with REST.
up seq anno comments: LIM zinc-binding
up seq anno comments: LIM zinc-binding 1
up seq anno comments: LIM zinc-binding 2
up seq anno comments: LIM zinc-binding 3
up seq anno comments: May be associated with NTD.
up seq anno comments: PET
up seq anno comments: Phosphoserine
up seq anno comments: Prickle-like protein 1
up seq anno comments: Removed in mature form
up seq anno comments: S-farnesyl cysteine
up seq anno feature ids: PRO_0000075889
up seq anno feature ids: PRO_0000396712
up seq anno feature ids: VAR_054663
up seq anno feature ids: VAR_056164
up seq anno feature ids: VAR_065580
up seq anno feature ids: VAR_065581
up seq anno feature ids: VAR_066850
up seq anno feature ids: VAR_066851
up seq anno feature ids: VAR_066852
up seq anno feature ids: VAR_066853
up seq anno feature ids: VAR_066854
up seq anno feature ids: VAR_066855
up seq anno feature ids: VAR_066856
up seq anno feature ids: VAR_066857
up seq anno feature ids: VAR_066858

9606:H4C3
gene id: 9606:H4C3
uniprot id: B2R4R0
uniprot id: P62805
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolished ufmylation.
up seq anno comments: Asymmetric dimethylarginine; by PRMT1; alternate
up seq anno comments: Citrulline; alternate
up seq anno comments: Disordered
up seq anno comments: Found in a patient with a neurodevelopmental disorder; unknown pathological significance.
up seq anno comments: Found in a patient with a neurodevelopmental disorder; unknown pathological significance; results in early developmental defects when expressed in zebrafish embryos.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in UFM1); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
up seq anno comments: Histone H4
up seq anno comments: Impaired methylation by N6AMT1.
up seq anno comments: In TEBIVANED1.
up seq anno comments: In TEBIVANED1; results in severe early developmental defects when expressed in zebrafish embryos; results in defective cell cycle progression when expressed in zebrafish embryos.
up seq anno comments: In TEBIVANED2 and TEBIVANED3; unknown pathological significance; does not affect early development when expressed in zebrafish embryos.
up seq anno comments: In TEBIVANED2; results in severe early developmental defects when expressed in zebrafish embryos.
up seq anno comments: In TEBIVANED3.
up seq anno comments: In TEBIVANED3; results in early developmental defects when expressed in zebrafish embryos.
up seq anno comments: In TEBIVANED4; results in early developmental defects when expressed in zebrafish embryos.
up seq anno comments: In TEBIVANED4; results in severe early developmental defects when expressed in zebrafish embryos.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: N-acetylserine
up seq anno comments: N6,N6,N6-trimethyllysine; alternate
up seq anno comments: N6,N6-dimethyllysine; alternate
up seq anno comments: N6-(2-hydroxyisobutyryl)lysine; alternate
up seq anno comments: N6-(beta-hydroxybutyryl)lysine; alternate
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-butyryllysine; alternate
up seq anno comments: N6-crotonyllysine; alternate
up seq anno comments: N6-glutaryllysine; alternate
up seq anno comments: N6-lactoyllysine; alternate
up seq anno comments: N6-methyllysine; alternate
up seq anno comments: N6-propionyllysine; alternate
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: Omega-N-methylarginine; by PRMT1; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PAK2
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Removed
up seq anno comments: Symmetric dimethylarginine; by PRMT5 and PRMT7; alternate
up seq anno comments: TATA box binding protein associated factor (TAF) histone-like fold
up seq anno feature ids: PRO_0000158320
up seq anno feature ids: VAR_036206
up seq anno feature ids: VAR_086990
up seq anno feature ids: VAR_086991
up seq anno feature ids: VAR_086992

9606:RNF31
gene id: 9606:RNF31
uniprot id: Q96EP0
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: (Microbial infection) Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Abolished E3 ubiquitin-protein ligase activity and ability to promote formation of the bacterial ubiquitin coat; when associated with A-885 and A-935.
up seq anno comments: Abolished E3 ubiquitin-protein ligase activity and ability to promote formation of the bacterial ubiquitin coat; when associated with A-885 and A-983.
up seq anno comments: Abolished E3 ubiquitin-protein ligase activity and ability to promote formation of the bacterial ubiquitin coat; when associated with A-935 and A-983.
up seq anno comments: Abolished interaction with OTULIN.
up seq anno comments: Abolished interaction with SPATA2.
up seq anno comments: Abolishes cleavage by caspase.
up seq anno comments: Abolishes polyubiquitination activity of LUBAC; when associated with S-699.
up seq anno comments: Abolishes polyubiquitination activity of LUBAC; when associated with S-702.
up seq anno comments: Abolishes polyubiquitination activity of LUBAC; when associated with S-871.
up seq anno comments: Abolishes polyubiquitination activity of LUBAC; when associated with S-874.
up seq anno comments: Cleavage; by caspase
up seq anno comments: Decreased ubiquitin-binding and ability to promote formation of the bacterial ubiquitin coat.
up seq anno comments: Disordered
up seq anno comments: Does not affect interaction with OTULIN.
up seq anno comments: E3 ubiquitin-protein ligase RNF31
up seq anno comments: IBR-type
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Interaction with RBCK1
up seq anno comments: LDD domain
up seq anno comments: PUB
up seq anno comments: Phosphoserine
up seq anno comments: Polyubiquitin-binding
up seq anno comments: Pro residues
up seq anno comments: RING-type 1
up seq anno comments: RING-type 2; atypical
up seq anno comments: RanBP2-type 1
up seq anno comments: RanBP2-type 2
up seq anno comments: RanBP2-type 3
up seq anno comments: Reduced interaction with OTULIN.
up seq anno comments: Reduced ubiquitination; when associated with R-735 and R-783.
up seq anno comments: Reduced ubiquitination; when associated with R-735 and R-875.
up seq anno comments: Reduced ubiquitination; when associated with R-783 and R-875.
up seq anno comments: TRIAD supradomain
up seq anno comments: UBA
up seq anno feature ids: PRO_0000056069
up seq anno feature ids: VAR_052102
up seq anno feature ids: VSP_009647

9606:DLL4
gene id: 9606:DLL4
uniprot id: Q9NR61
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: DSL
up seq anno comments: Delta-like protein 4
up seq anno comments: EGF-like 1
up seq anno comments: EGF-like 2
up seq anno comments: EGF-like 3
up seq anno comments: EGF-like 4
up seq anno comments: EGF-like 5
up seq anno comments: EGF-like 6
up seq anno comments: EGF-like 7
up seq anno comments: EGF-like 8
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In AOS6.
up seq anno comments: Interaction with Notch1
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000007512
up seq anno feature ids: VAR_075858
up seq anno feature ids: VAR_075859
up seq anno feature ids: VAR_075860
up seq anno feature ids: VAR_075861
up seq anno feature ids: VAR_075862
up seq anno feature ids: VAR_075863
up seq anno feature ids: VAR_075864

9606:PRTFDC1
gene id: 9606:PRTFDC1
uniprot id: Q9NRG1
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoribosyltransferase domain-containing protein 1
up seq anno comments: Removed
up seq anno feature ids: PRO_0000318176
up seq anno feature ids: VSP_031179
up seq anno feature ids: VSP_031180

9606:RBM45
gene id: 9606:RBM45
uniprot id: Q8IUH3
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: RNA-binding protein 45
up seq anno comments: RRM 1
up seq anno comments: RRM 2
up seq anno comments: RRM 3
up seq anno feature ids: PRO_0000081572
up seq anno feature ids: VSP_021005
up seq anno feature ids: VSP_051661
up seq anno feature ids: VSP_051662

9606:TMEM26
gene id: 9606:TMEM26
uniprot id: Q6ZUK4
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: Transmembrane protein 26
up seq anno feature ids: PRO_0000245865
up seq anno feature ids: VSP_019806
up seq anno feature ids: VSP_019807

9606:CWH43
gene id: 9606:CWH43
uniprot id: B4DU47
uniprot id: B7ZAJ2
uniprot id: E7EQL2
uniprot id: Q9H720
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: PGAP2-interacting protein
up seq anno comments: Required for function in lipid remodeling
up seq anno feature ids: PRO_0000320615
up seq anno feature ids: VAR_039234
up seq anno feature ids: VAR_039235

9606:UPF3A
gene id: 9606:UPF3A
uniprot id: Q9H1J1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Increases NMD activity and translation stimulation.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Regulator of nonsense transcripts 3A
up seq anno comments: Required for association with EIF4A3 and ECJ core components CASC3, MAGOH and RBM8A
up seq anno comments: Required for interaction with UPF2
up seq anno feature ids: PRO_0000215296
up seq anno feature ids: VAR_062143
up seq anno feature ids: VSP_012961
up seq anno feature ids: VSP_012962

9606:CFHR1
gene id: 9606:CFHR1
uniprot id: Q03591
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Complement factor H-related protein 1
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Sushi 1
up seq anno comments: Sushi 2
up seq anno comments: Sushi 3
up seq anno comments: Sushi 4
up seq anno comments: Sushi 5
up seq anno feature ids: PRO_0000005896
up seq anno feature ids: VAR_001980
up seq anno feature ids: VAR_001981
up seq anno feature ids: VAR_001982
up seq anno feature ids: VAR_048816

9606:DNAH17
gene id: 9606:DNAH17
uniprot id: Q9UFH2
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: AAA 1
up seq anno comments: AAA 2
up seq anno comments: AAA 3
up seq anno comments: AAA 4
up seq anno comments: AAA 5
up seq anno comments: AAA 6
up seq anno comments: Dynein axonemal heavy chain 17
up seq anno comments: In SPGF39.
up seq anno comments: In SPGF39; loss of the outer dynein arms in sperm cells.
up seq anno comments: In SPGF39; when associated in cis with L-3499; not expressed in flagellum and loss of the outer dynein arms in sperm cells when associated in cis with L-3499.
up seq anno comments: In SPGF39; when associated in cis with P-3595; not expressed in flagellum and loss of the outer dynein arms in sperm cells when associated in cis with P-3595.
up seq anno comments: In isoform 4.
up seq anno comments: Stalk
up seq anno comments: Stem
up seq anno comments: TPR 1
up seq anno comments: TPR 2
up seq anno comments: TPR 3
up seq anno feature ids: PRO_0000323749
up seq anno feature ids: VAR_039581
up seq anno feature ids: VAR_062178
up seq anno feature ids: VAR_062179
up seq anno feature ids: VAR_062180
up seq anno feature ids: VAR_083232
up seq anno feature ids: VAR_083233
up seq anno feature ids: VAR_083234
up seq anno feature ids: VAR_083235
up seq anno feature ids: VAR_083236
up seq anno feature ids: VSP_032109
up seq anno feature ids: VSP_032110
up seq anno feature ids: VSP_032111

9606:FGFBP1
gene id: 9606:FGFBP1
uniprot id: Q14512
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Signal Peptide
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Fibroblast growth factor-binding protein 1
up seq anno comments: O-linked (GalNAc...) serine
up seq anno comments: Strongly reduces interaction with FGF2.
up seq anno comments: Sufficient for interaction with FGF2 and FGF2-induced effects
up seq anno feature ids: PRO_0000245512

9606:CETN3
gene id: 9606:CETN3
uniprot id: E5RFM2
uniprot id: E5RJF8
uniprot id: O15182
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno comments: Centrin-3
up seq anno comments: EF-hand
up seq anno comments: EF-hand 1
up seq anno comments: EF-hand 2
up seq anno comments: EF-hand 3
up seq anno comments: EF-hand 4
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000073563
up seq anno feature ids: VAR_030846

9606:MTHFD2L
gene id: 9606:MTHFD2L
uniprot id: Q9H903
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Splice Variant
up seq anno comments: Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial
up seq anno comments: In isoform 1 and isoform 3.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 5.
up seq anno feature ids: PRO_0000337097
up seq anno feature ids: VSP_041877
up seq anno feature ids: VSP_041878
up seq anno feature ids: VSP_041879
up seq anno feature ids: VSP_041880
up seq anno feature ids: VSP_041881

9606:STK35
gene id: 9606:STK35
uniprot id: Q8TDR2
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: No autophosphorylation.
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Serine/threonine-protein kinase 35
up seq anno feature ids: PRO_0000086717

9606:TTC32
gene id: 9606:TTC32
uniprot id: Q5I0X7
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno labels: Chain
up seq anno labels: Repeat
up seq anno comments: TPR 1
up seq anno comments: TPR 2
up seq anno comments: TPR 3
up seq anno comments: Tetratricopeptide repeat protein 32
up seq anno feature ids: PRO_0000263100

9606:USH1G
gene id: 9606:USH1G
uniprot id: B4DL95
uniprot id: Q495M9
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: ANK 1
up seq anno comments: ANK 2
up seq anno comments: ANK 3
up seq anno comments: Abolishes interaction with MAGI2.
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In USH1G; atypical form with mild retinitis pigmentosa and normal vestibular function; also found in patients with autosomal recessive non-syndromic deafness; strongly reduced affinity for USH1C.
up seq anno comments: In USH1G; reduced interaction with IFT52 and IFT57.
up seq anno comments: Phosphomimetic mutant; does not affect interaction with MAGI2.
up seq anno comments: Phosphoserine; by CK2
up seq anno comments: Polar residues
up seq anno comments: Probable disease-associated variant found in patients with non-syndromic sensorineural hearing loss; reduced interaction with IFT52 and IFT57; failure to rescue the USH1C splicing defect seen in USH1G-depleted cells.
up seq anno comments: Reduced affinity for MYO7A.
up seq anno comments: SAM
up seq anno comments: Strongly reduced affinity for MYO7A.
up seq anno comments: pre-mRNA splicing regulator USH1G
up seq anno feature ids: PRO_0000067077
up seq anno feature ids: VAR_023739
up seq anno feature ids: VAR_060468
up seq anno feature ids: VAR_072369

9606:NXPH3
gene id: 9606:NXPH3
uniprot id: O95157
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: II
up seq anno comments: III
up seq anno comments: IV (linker domain)
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Neurexophilin-3
up seq anno comments: V (Cys-rich)
up seq anno feature ids: PRO_0000020065

9606:SLC3A2
gene id: 9606:SLC3A2
uniprot id: P08195
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Mass
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Mass
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Abolishes dimerization, leucine uptake and interaction with beta-1 integrins.
up seq anno comments: Amino acid transporter heavy chain SLC3A2
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: Impairs both the stability and the trafficking of SLC3A2 to the plasma membrane; when associated with Q-365 Q-381 and Q-424.
up seq anno comments: Impairs both the stability and the trafficking of SLC3A2 to the plasma membrane; when associated with Q-365 Q-381 and Q-506.
up seq anno comments: Impairs both the stability and the trafficking of SLC3A2 to the plasma membrane; when associated with Q-365; Q-424 and Q-506.
up seq anno comments: Impairs both the stability and the trafficking of SLC3A2 to the plasma membrane; when associated with Q-381; Q-424 and Q-506.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: Interchain (with C-164 in SLC7A5; C-158 in SLC7A11 and C-154 in SLC7A8)
up seq anno comments: N-acetylmethionine
up seq anno comments: N-acetylserine
up seq anno comments: N-linked (GlcNAc...) (complex) asparagine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Nearly abolishes leucine transport activity.
up seq anno comments: No effect on dimerization, leucine uptake or interaction with beta-1 integrins.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno comments: Strongly decreased leucine transport activity.
up seq anno feature ids: PRO_0000064383
up seq anno feature ids: VSP_037907
up seq anno feature ids: VSP_037908
up seq anno feature ids: VSP_037909
up seq anno feature ids: VSP_061769

9606:MRPS17
gene id: 9606:MRPS17
uniprot id: Q9Y2R5
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Strand
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: Mitochondrion
up seq anno comments: Small ribosomal subunit protein uS17m
up seq anno feature ids: PRO_0000030623

9606:MFSD3
gene id: 9606:MFSD3
uniprot id: Q96ES6
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: Major facilitator superfamily domain-containing protein 3
up seq anno feature ids: PRO_0000273392
up seq anno feature ids: VAR_030141

9606:SLC6A16
gene id: 9606:SLC6A16
uniprot id: Q9GZN6
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Found in a renal cell carcinoma sample; somatic mutation.
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=10
up seq anno comments: Helical; Name=11
up seq anno comments: Helical; Name=12
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: Helical; Name=8
up seq anno comments: Helical; Name=9
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Orphan sodium- and chloride-dependent neurotransmitter transporter NTT5
up seq anno feature ids: PRO_0000214801
up seq anno feature ids: VAR_052067
up seq anno feature ids: VAR_064753
up seq anno feature ids: VSP_056317

9606:APOBEC3F
gene id: 9606:APOBEC3F
uniprot id: Q8IUX4
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: CMP/dCMP-type deaminase 1
up seq anno comments: CMP/dCMP-type deaminase 2
up seq anno comments: DNA dC->dU-editing enzyme APOBEC-3F
up seq anno comments: Decrease in cytidine deaminase and antiviral activity.
up seq anno comments: Decrease in cytidine deaminase and antiviral activity; when associated with A-251.
up seq anno comments: Decrease in cytidine deaminase and antiviral activity; when associated with A-67.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: No effect on cytidine deaminase and antiviral activity.
up seq anno comments: Proton donor
up seq anno comments: Remains able to bind Vif.
up seq anno comments: Resistant to HIV-1 Vif and abolishes Vif binding but is still efficiently incorporated into the virion.
up seq anno comments: Resistant to HIV-1 Vif and reduces Vif binding but is still efficiently incorporated into the virion.
up seq anno comments: Resistant to HIV-1 Vif and reduces Vif binding.
up seq anno comments: Resistant to HIV-1 Vif, reduces Vif binding and abolishes incorporation into the virion.
up seq anno feature ids: PRO_0000171757
up seq anno feature ids: VAR_018145
up seq anno feature ids: VAR_018146
up seq anno feature ids: VAR_018147
up seq anno feature ids: VAR_018148
up seq anno feature ids: VAR_025058
up seq anno feature ids: VAR_025059
up seq anno feature ids: VAR_038355
up seq anno feature ids: VSP_009803
up seq anno feature ids: VSP_009804
up seq anno feature ids: VSP_042754
up seq anno feature ids: VSP_042755

9606:IYD
gene id: 9606:IYD
uniprot id: Q2VPV9
uniprot id: Q6PHW0
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transmembrane
up seq anno comments: Activity as the wild type.
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In TDH4; strongly reduces activity; does not respond to the increase of flavin mononucleotide concentration.
up seq anno comments: In TDH4; strongly reduces activity; marginally respond to the increase of flavin mononucleotide concentration; reduces protein stability.
up seq anno comments: In isoform 3 and isoform 7.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: In isoform 7.
up seq anno comments: Iodotyrosine deiodinase 1
up seq anno comments: Nitroreductase
up seq anno comments: Reduces activity.
up seq anno comments: Strongly reduces activity.
up seq anno feature ids: PRO_0000230278
up seq anno feature ids: VAR_025785
up seq anno feature ids: VAR_045963
up seq anno feature ids: VAR_045964
up seq anno feature ids: VAR_045965
up seq anno feature ids: VAR_045966
up seq anno feature ids: VSP_017802
up seq anno feature ids: VSP_017803
up seq anno feature ids: VSP_017805
up seq anno feature ids: VSP_017806
up seq anno feature ids: VSP_017807
up seq anno feature ids: VSP_017809
up seq anno feature ids: VSP_017810
up seq anno feature ids: VSP_017812
up seq anno feature ids: VSP_017813

9606:NOP53
gene id: 9606:NOP53
uniprot id: Q9NZM5
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Decreased degradation in response to DNA damage. Decreased phosphorylation, degradation and increased interaction with RPL11 in response to DNA damage; when associated with A-233.
up seq anno comments: Decreased phosphorylation, degradation and increased interaction with RPL11 in response to DNA damage; when associated with A-289.
up seq anno comments: Disordered
up seq anno comments: Loss of localization to the nucleolus and in response to DNA damage increased degradation and decreased interaction with RPL11; when associated with D-233.
up seq anno comments: Loss of localization to the nucleolus and in response to DNA damage increased degradation and decreased interaction with RPL11; when associated with D-289.
up seq anno comments: Mediates interaction with CDKN2A/isoform tumor suppressor ARF
up seq anno comments: Mediates interaction with NF2
up seq anno comments: Mediates interaction with human herpesvirus 8 protein ORF16
up seq anno comments: N-acetylalanine
up seq anno comments: Nucleolar localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno comments: Ribosome biogenesis protein NOP53
up seq anno feature ids: PRO_0000218960
up seq anno feature ids: VAR_011486
up seq anno feature ids: VAR_024456

9606:ZNF383
gene id: 9606:ZNF383
uniprot id: Q8NA42
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 383
up seq anno feature ids: PRO_0000047550

9606:KYAT3
gene id: 9606:KYAT3
uniprot id: B4DW13
uniprot id: Q6YP21
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Aminotransferase class I/classII
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Kynurenine--oxoglutarate transaminase 3
up seq anno comments: N-acetylserine
up seq anno comments: N6-(pyridoxal phosphate)lysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: Removed
up seq anno feature ids: PRO_0000287704
up seq anno feature ids: VAR_032352
up seq anno feature ids: VSP_025603
up seq anno feature ids: VSP_025604
up seq anno feature ids: VSP_042841

9606:STXBP5
gene id: 9606:STXBP5
uniprot id: Q5T5C0
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PKA
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Syntaxin-binding protein 5
up seq anno comments: WD 1
up seq anno comments: WD 10
up seq anno comments: WD 11
up seq anno comments: WD 12
up seq anno comments: WD 13
up seq anno comments: WD 14
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno comments: WD 7
up seq anno comments: WD 8
up seq anno comments: WD 9
up seq anno comments: v-SNARE coiled-coil homology
up seq anno feature ids: PRO_0000051244
up seq anno feature ids: VAR_035235
up seq anno feature ids: VSP_016204
up seq anno feature ids: VSP_016205

9606:C8orf44-SGK3
gene id: 9606:C8orf44-SGK3
uniprot id: Q96BR1
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: AGC-kinase C-terminal
up seq anno comments: Abolishes activity.
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Increased activation.
up seq anno comments: Nuclear localization signal
up seq anno comments: PX
up seq anno comments: Partially localized to the membrane.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine; by PDPK1
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Serine/threonine-protein kinase Sgk3
up seq anno feature ids: PRO_0000086649
up seq anno feature ids: VAR_035636
up seq anno feature ids: VAR_041076
up seq anno feature ids: VSP_041903

9606:CUL4A
gene id: 9606:CUL4A
uniprot id: A0A0A0MR50
uniprot id: Q13619
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Cullin family profile
up seq anno comments: Cullin-4A
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in NEDD8)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: In isoform 2.
up seq anno comments: Largely reduces interaction with DDB1; abolishes interaction with DDB2.
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000119795
up seq anno feature ids: VAR_020341
up seq anno feature ids: VSP_018577

9606:MAP7D1
gene id: 9606:MAP7D1
uniprot id: B3KU03
uniprot id: Q3KQU3
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2, isoform 3 and isoform 4.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: MAP7 domain-containing protein 1
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000306807
up seq anno feature ids: VAR_035312
up seq anno feature ids: VAR_053970
up seq anno feature ids: VSP_028483
up seq anno feature ids: VSP_028484
up seq anno feature ids: VSP_028485
up seq anno feature ids: VSP_028486
up seq anno feature ids: VSP_028487
up seq anno feature ids: VSP_028488

9606:ARHGEF17
gene id: 9606:ARHGEF17
uniprot id: Q96PE2
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: DH
up seq anno comments: Disordered
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Rho guanine nucleotide exchange factor 17
up seq anno feature ids: PRO_0000286589
up seq anno feature ids: VAR_032132
up seq anno feature ids: VAR_032133

9606:POTEI
gene id: 9606:POTEI
uniprot id: P0CG38
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno comments: ANK 1
up seq anno comments: ANK 2
up seq anno comments: ANK 3
up seq anno comments: ANK 4
up seq anno comments: ANK 5
up seq anno comments: Actin-like
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: POTE ankyrin domain family member I
up seq anno feature ids: PRO_0000395413

9606:AGBL4
gene id: 9606:AGBL4
uniprot id: Q5VU57
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Cytosolic carboxypeptidase 6
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Nucleophile
up seq anno feature ids: PRO_0000284835
up seq anno feature ids: VAR_061078
up seq anno feature ids: VSP_040435
up seq anno feature ids: VSP_040436

9606:RYR1
gene id: 9606:RYR1
uniprot id: P21817
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: INTRAMEM
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: INTRAMEM
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: 1
up seq anno comments: 2
up seq anno comments: 3; truncated
up seq anno comments: 4; truncated
up seq anno comments: 5
up seq anno comments: 6
up seq anno comments: 6 X approximate repeats
up seq anno comments: Acidic residues
up seq anno comments: Associated in cis with S-2787; may be associated with susceptibility to malignant hyperthermia.
up seq anno comments: Associated in cis with W-2676; may be associated with susceptibility to malignant hyperthermia.
up seq anno comments: B30.2/SPRY 1
up seq anno comments: B30.2/SPRY 2
up seq anno comments: B30.2/SPRY 3
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: EF-hand
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: In CMYP1A and MHS1.
up seq anno comments: In CMYP1A and MHS1; 2-3% of the cases; increases calcium-induced calcium release activity.
up seq anno comments: In CMYP1A and MHS1; 3-5% of the cases; increases calcium-induced calcium release activity.
up seq anno comments: In CMYP1A and MHS1; increases calcium-induced calcium release activity.
up seq anno comments: In CMYP1A and MHS1; no difference in the thapsigargin-sensitive calcium stores of cells carrying this mutation and the wild-type; increases calcium-induced calcium release activity.
up seq anno comments: In CMYP1A and MHS1; release of calcium from intracellular stores in the absence of any pharmacological activator of RYR.
up seq anno comments: In CMYP1A.
up seq anno comments: In CMYP1A; increases sensitivity to caffeine and 4-chloro-m-cresol.
up seq anno comments: In CMYP1A; release of calcium from intracellular stores in the absence of any pharmacological activator of RYR; smaller thapsigargin-sensitive intracellular calcium stores; normal sensitivity of the calcium release to the RYR inhibitor dantrolene.
up seq anno comments: In CMYP1A; severe phenotype.
up seq anno comments: In CMYP1A; unknown pathological significance.
up seq anno comments: In CMYP1B.
up seq anno comments: In KDS.

9606:ATIC
gene id: 9606:ATIC
uniprot id: P31939
uniprot id: V9HWH7
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: AICAR formyltransferase
up seq anno comments: Bifunctional purine biosynthesis protein ATIC
up seq anno comments: Bifunctional purine biosynthesis protein ATIC, N-terminally processed
up seq anno comments: Decreased FAICAR cyclization activity; no change in affinity to FAICAR.
up seq anno comments: Decreased affinity to FAICAR; no change in FAICAR cyclization activity.
up seq anno comments: IMP cyclohydrolase
up seq anno comments: In AICAR; loss of transformylase activity.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of AICAR transformylase activity.
up seq anno comments: MGS-like
up seq anno comments: N-acetylmethionine
up seq anno comments: N6-acetyllysine
up seq anno comments: Proton acceptor; for AICAR formyltransferase activity
up seq anno comments: Proton donor/acceptor; for FAICAR cyclization activity
up seq anno comments: Removed; alternate
up seq anno comments: Transition state stabilizer
up seq anno comments: in other chain
up seq anno feature ids: PRO_0000192156
up seq anno feature ids: PRO_0000434376
up seq anno feature ids: VAR_019306
up seq anno feature ids: VAR_019307
up seq anno feature ids: VSP_053495

9606:HAUS8
gene id: 9606:HAUS8
uniprot id: Q9BT25
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: HAUS augmin-like complex subunit 8
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno feature ids: PRO_0000319937
up seq anno feature ids: VAR_039056
up seq anno feature ids: VSP_031543
up seq anno feature ids: VSP_047167

9606:DDX41
gene id: 9606:DDX41
uniprot id: B3KRK2
uniprot id: Q9UJV9
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: CCHC-type
up seq anno comments: DEAD box
up seq anno comments: DEAD-box RNA helicase Q
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Helicase ATP-binding
up seq anno comments: Helicase C-terminal
up seq anno comments: In MPLPF; no effect on localization; changed interaction with spliceosomal complexes.
up seq anno comments: In MPLPF; unknown pathological significance.
up seq anno comments: In MPLPF; unknown pathological significance; no effect on localization.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Probable ATP-dependent RNA helicase DDX41
up seq anno comments: Q motif
up seq anno feature ids: PRO_0000054970
up seq anno feature ids: VAR_076360
up seq anno feature ids: VAR_076361
up seq anno feature ids: VAR_076362

9606:DGUOK
gene id: 9606:DGUOK
uniprot id: E5KSL5
uniprot id: E5KSL6
uniprot id: Q16854
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: Deoxyguanosine kinase, mitochondrial
up seq anno comments: Deoxynucleoside kinase
up seq anno comments: In MTDPS3.
up seq anno comments: In MTDPS3; significant reduction of activity.
up seq anno comments: In NCPH1; impairs adenosine triphosphate binding; reduction of activity.
up seq anno comments: In PEOB4; decreased protein levels.
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 3, isoform 4 and isoform 5.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: Mitochondrion
up seq anno comments: N6-acetyllysine
up seq anno comments: Proton acceptor
up seq anno comments: Reduction of activity.
up seq anno comments: Unknown pathological significance.
up seq anno feature ids: PRO_0000016840
up seq anno feature ids: VAR_019417
up seq anno feature ids: VAR_019418
up seq anno feature ids: VAR_023789
up seq anno feature ids: VAR_076979
up seq anno feature ids: VAR_076980
up seq anno feature ids: VAR_076981
up seq anno feature ids: VAR_076982
up seq anno feature ids: VAR_076983
up seq anno feature ids: VSP_003024
up seq anno feature ids: VSP_003025
up seq anno feature ids: VSP_003026
up seq anno feature ids: VSP_056026
up seq anno feature ids: VSP_056027

9606:RBM47
gene id: 9606:RBM47
uniprot id: A0AV96
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Asymmetric dimethylarginine; alternate
up seq anno comments: Decreased function in regulation of alternative splicing. Decreased pre-mRNA binding. No effect on homodimerization.
up seq anno comments: Decreased function in regulation of alternative splicing. No effect on pre-mRNA binding.
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Loss of function in regulation of alternative splicing. Loss of pre-mRNA binding activity. Decreased homodimerization.
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Omega-N-methylarginine; alternate
up seq anno comments: Polar residues
up seq anno comments: RNA-binding protein 47
up seq anno comments: RRM 1
up seq anno comments: RRM 2
up seq anno comments: RRM 3
up seq anno feature ids: PRO_0000307855
up seq anno feature ids: VAR_054770
up seq anno feature ids: VAR_061832
up seq anno feature ids: VSP_028839

9606:UBE2W
gene id: 9606:UBE2W
uniprot id: Q96B02
uniprot id: Q96FI0
uniprot id: X6REH9
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Glycyl thioester intermediate
up seq anno comments: Impaired substrate ubiquitination of both Tau and ATXN3.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of predominant nuclear localization.
up seq anno comments: Loss of ubiquitin conjugating activity.
up seq anno comments: Loss of ubiquitination activity toward various substrates, including POLR2H, ATXN3, STUB1 and MAPT.
up seq anno comments: Loss of ubiquitination activity.
up seq anno comments: Peptide (Met-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: UBC core
up seq anno comments: Ubiquitin-conjugating enzyme E2 W
up seq anno feature ids: PRO_0000232689
up seq anno feature ids: VSP_017943
up seq anno feature ids: VSP_042974

9606:TIMM8B
gene id: 9606:TIMM8B
uniprot id: G3XAN8
uniprot id: Q9Y5J9
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno comments: Mitochondrial import inner membrane translocase subunit Tim8 B
up seq anno comments: N-acetylalanine
up seq anno comments: Removed
up seq anno comments: Tim10-like
up seq anno comments: Twin CX3C motif
up seq anno feature ids: PRO_0000193587

9606:COX11
gene id: 9606:COX11
uniprot id: B4DI26
uniprot id: Q9Y6N1
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transit Peptide
up seq anno labels: Transmembrane
up seq anno comments: Cytochrome c oxidase assembly protein COX11, mitochondrial
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In MC4DN23; unknown pathological significance; decreased respiration-derived ATP levels in patient cells.
up seq anno comments: In isoform 2.
up seq anno comments: Mitochondrial intermembrane
up seq anno comments: Mitochondrial matrix
up seq anno comments: Mitochondrion
up seq anno feature ids: PRO_0000006080
up seq anno feature ids: VAR_048831
up seq anno feature ids: VAR_088428
up seq anno feature ids: VSP_046360

9606:NKX6-1
gene id: 9606:NKX6-1
uniprot id: P78426
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno comments: Asymmetric dimethylarginine
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Homeobox
up seq anno comments: Homeobox protein Nkx-6.1
up seq anno comments: Involved in DNA-binding
up seq anno comments: Polar residues
up seq anno comments: Repressor domain
up seq anno feature ids: PRO_0000048951

9606:ERAP2
gene id: 9606:ERAP2
uniprot id: B2R769
uniprot id: Q6P179
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Aminopeptidase N-like N-terminal
up seq anno comments: Cytoplasmic
up seq anno comments: ERAP1-like C-terminal
up seq anno comments: Endoplasmic reticulum aminopeptidase 2
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Peptidase M1 membrane alanine aminopeptidase
up seq anno comments: Proton acceptor
up seq anno comments: Transition state stabilizer
up seq anno feature ids: PRO_0000315719
up seq anno feature ids: VAR_038285
up seq anno feature ids: VAR_038286
up seq anno feature ids: VAR_038287
up seq anno feature ids: VAR_051569
up seq anno feature ids: VSP_030671
up seq anno feature ids: VSP_030672
up seq anno feature ids: VSP_030673
up seq anno feature ids: VSP_030674
up seq anno feature ids: VSP_030675

9606:ZNF154
gene id: 9606:ZNF154
uniprot id: Q13106
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 12
up seq anno comments: C2H2-type 1; degenerate
up seq anno comments: C2H2-type 2; degenerate
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: Disordered
up seq anno comments: KRAB
up seq anno comments: Polar residues
up seq anno comments: Zinc finger protein 154
up seq anno feature ids: PRO_0000047430
up seq anno feature ids: VAR_052779
up seq anno feature ids: VAR_052780
up seq anno feature ids: VAR_052781
up seq anno feature ids: VAR_060678

9606:CCDC149
gene id: 9606:CCDC149
uniprot id: Q6ZUS6
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Coiled-coil domain-containing protein 149
up seq anno comments: Disordered
up seq anno comments: In isoform 2, isoform 3 and isoform 4.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000344209
up seq anno feature ids: VSP_034741
up seq anno feature ids: VSP_034742
up seq anno feature ids: VSP_034743
up seq anno feature ids: VSP_042498
up seq anno feature ids: VSP_042499
up seq anno feature ids: VSP_042500

9606:MPC2
gene id: 9606:MPC2
uniprot id: O95563
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: Mitochondrial intermembrane
up seq anno comments: Mitochondrial matrix
up seq anno comments: Mitochondrial pyruvate carrier 2
up seq anno feature ids: PRO_0000212793

9606:SLAMF7
gene id: 9606:SLAMF7
uniprot id: B4DVL7
uniprot id: B4DW98
uniprot id: Q9NQ25
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: ITSM
up seq anno comments: Ig-like
up seq anno comments: Ig-like C2-type
up seq anno comments: Ig-like V-type
up seq anno comments: In isoform 2 and isoform 7.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: In isoform 7.
up seq anno comments: Interaction with FYN when phosphorylated at Tyr-284
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: SLAM family member 7
up seq anno feature ids: PRO_0000014963
up seq anno feature ids: PRO_5014567690
up seq anno feature ids: PRO_5014567693
up seq anno feature ids: VAR_049938
up seq anno feature ids: VAR_049939
up seq anno feature ids: VSP_013781
up seq anno feature ids: VSP_013782
up seq anno feature ids: VSP_054540
up seq anno feature ids: VSP_054541
up seq anno feature ids: VSP_054542
up seq anno feature ids: VSP_055292
up seq anno feature ids: VSP_055293

9606:SLC7A3
gene id: 9606:SLC7A3
uniprot id: Q8WY07
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cationic amino acid transporter 3
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Found in a renal cell carcinoma sample; somatic mutation.
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=10
up seq anno comments: Helical; Name=11
up seq anno comments: Helical; Name=12
up seq anno comments: Helical; Name=13
up seq anno comments: Helical; Name=14
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: Helical; Name=8
up seq anno comments: Helical; Name=9
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000054266
up seq anno feature ids: VAR_048154
up seq anno feature ids: VAR_064754

9606:STAT2
gene id: 9606:STAT2
uniprot id: P52630
uniprot id: R9QE65
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: In PTORCH3; increased cellular sensitivity to type IIFNs; fails to appropriately traffic USP18 thereby preventing USP18 to inhibit responses to IFN-I.
up seq anno comments: In PTORCH3; increased cellular sensitivity to type IIFNs; loss of interaction with USP18 thereby preventing USP18 to inhibit responses to IFN-I.
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with SFTSV virus NSs
up seq anno comments: Interaction with heartland virus NSs
up seq anno comments: Mediates interaction with USP18
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine; by JAK
up seq anno comments: Prevents the nuclear import; when associated with A-374.
up seq anno comments: Prevents the nuclear import; when associated with A-375.
up seq anno comments: Prevents the nuclear import; when associated with A-409.
up seq anno comments: Prevents the nuclear import; when associated with A-415.
up seq anno comments: Reduces phosphorylation of STAT1 in response to IFN-ALPHA.
up seq anno comments: SH2
up seq anno comments: Signal transducer and activator of transcription 2
up seq anno feature ids: PRO_0000182413
up seq anno feature ids: VAR_014896
up seq anno feature ids: VAR_014897
up seq anno feature ids: VAR_014898
up seq anno feature ids: VAR_014899
up seq anno feature ids: VAR_014900
up seq anno feature ids: VAR_014901
up seq anno feature ids: VAR_019213
up seq anno feature ids: VAR_052072
up seq anno feature ids: VAR_084450
up seq anno feature ids: VAR_084451
up seq anno feature ids: VSP_046705

9606:RAD18
gene id: 9606:RAD18
uniprot id: Q9NS91
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Does not interact with SLF1 and is defective in restoring cell survival after DNA damage; when associated with A-442.
up seq anno comments: Does not interact with SLF1 and is defective in restoring cell survival after DNA damage; when associated with A-444.
up seq anno comments: E3 ubiquitin-protein ligase RAD18
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: LR motif
up seq anno comments: Lower activity toward PCNA monoubiquitination.
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: RING-type
up seq anno comments: SAP
up seq anno comments: UBZ4-type
up seq anno feature ids: PRO_0000056149
up seq anno feature ids: VAR_023423
up seq anno feature ids: VAR_023424
up seq anno feature ids: VAR_023425

9606:KRTAP13-1
gene id: 9606:KRTAP13-1
uniprot id: Q8IUC0
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno comments: 1
up seq anno comments: 2
up seq anno comments: 3
up seq anno comments: 4
up seq anno comments: 5
up seq anno comments: 5 X 10 AA approximate repeats
up seq anno comments: Keratin-associated protein 13-1
up seq anno feature ids: PRO_0000185200

9606:RNF135
gene id: 9606:RNF135
uniprot id: Q8IUD6
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Domain Extent
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: B30.2/SPRY
up seq anno comments: Disordered
up seq anno comments: E3 ubiquitin-protein ligase RNF135
up seq anno comments: Found in an individual with overgrowth, learning disability and dysmorphic features; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of function in RIG-I signaling pathway; when associated with A-21.
up seq anno comments: Loss of function in RIG-I signaling pathway; when associated with A-24.
up seq anno comments: Prevents degradation by hepatitis C virus NS3/NS4A.
up seq anno comments: RING-type
up seq anno feature ids: PRO_0000280557
up seq anno feature ids: VAR_031165
up seq anno feature ids: VAR_031166
up seq anno feature ids: VAR_037652
up seq anno feature ids: VAR_063495
up seq anno feature ids: VAR_063496
up seq anno feature ids: VSP_023785
up seq anno feature ids: VSP_023786
up seq anno feature ids: VSP_045359
up seq anno feature ids: VSP_045360

9606:BNIP3L
gene id: 9606:BNIP3L
uniprot id: O60238
uniprot id: Q6IBV1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like
up seq anno comments: BH3
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000064957
up seq anno feature ids: VSP_056248

9606:LIPJ
gene id: 9606:LIPJ
uniprot id: Q5W064
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno comments: Charge relay system
up seq anno comments: Lipase member J
up seq anno comments: Nucleophile
up seq anno feature ids: PRO_0000288970
up seq anno feature ids: VAR_032543

9606:FRMPD2
gene id: 9606:FRMPD2
uniprot id: B4E1N9
uniprot id: Q68DX3
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Abolishes the basolateral membrane localization.
up seq anno comments: Disordered
up seq anno comments: FERM
up seq anno comments: FERM and PDZ domain-containing protein 2
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: KIND
up seq anno comments: PDZ
up seq anno comments: PDZ 1
up seq anno comments: PDZ 2
up seq anno comments: PDZ 3
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000306854
up seq anno feature ids: VAR_035446
up seq anno feature ids: VAR_055540
up seq anno feature ids: VAR_055541
up seq anno feature ids: VAR_061034
up seq anno feature ids: VAR_065253
up seq anno feature ids: VAR_072402
up seq anno feature ids: VSP_028521
up seq anno feature ids: VSP_028522
up seq anno feature ids: VSP_028523
up seq anno feature ids: VSP_028524
up seq anno feature ids: VSP_028525
up seq anno feature ids: VSP_028526
up seq anno feature ids: VSP_028527
up seq anno feature ids: VSP_028528

9606:PGAP1
gene id: 9606:PGAP1
uniprot id: Q75T13
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: GPI inositol-deacylase
up seq anno comments: Helical
up seq anno comments: In NEDDSBA; results in loss of PI-specific phospholipase C sensitivity which could be rescued by expression of the wild-type protein.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000277623
up seq anno feature ids: VAR_071772
up seq anno feature ids: VSP_023040
up seq anno feature ids: VSP_023041
up seq anno feature ids: VSP_023042
up seq anno feature ids: VSP_023043
up seq anno feature ids: VSP_023044

9606:TMEM104
gene id: 9606:TMEM104
uniprot id: Q8NE00
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Transmembrane protein 104
up seq anno feature ids: PRO_0000254178
up seq anno feature ids: VAR_028831
up seq anno feature ids: VAR_028832
up seq anno feature ids: VSP_021199
up seq anno feature ids: VSP_021200

9606:GPR89A
gene id: 9606:GPR89A
uniprot id: B7ZAQ6
uniprot id: P0CG08
uniprot id: X5D7G6
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Abscisic acid G-protein coupled receptor-like
up seq anno comments: Golgi pH regulator A
up seq anno comments: Golgi pH regulator B
up seq anno comments: Golgi pH regulator conserved
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000223260
up seq anno feature ids: PRO_0000395006
up seq anno feature ids: VSP_017247
up seq anno feature ids: VSP_039346
up seq anno feature ids: VSP_055892
up seq anno feature ids: VSP_055893

9606:MIOS
gene id: 9606:MIOS
uniprot id: Q9NXC5
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Repeat
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: C4-type
up seq anno comments: GATOR2 complex protein MIOS
up seq anno comments: Impaired amino-acid-mediated mTORC1 activation.
up seq anno comments: Impaired assembly of the GATOR2 complex.
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: RING-type; atypical
up seq anno comments: WD 1
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno feature ids: PRO_0000329404
up seq anno feature ids: VSP_032979
up seq anno feature ids: VSP_032980

9606:GUCY1A2
gene id: 9606:GUCY1A2
uniprot id: P33402
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: Guanylate cyclase
up seq anno comments: Guanylate cyclase soluble subunit alpha-2
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000074113
up seq anno feature ids: VAR_036420
up seq anno feature ids: VAR_036421
up seq anno feature ids: VSP_001814
up seq anno feature ids: VSP_054154

9606:SIK3
gene id: 9606:SIK3
uniprot id: A1A5A9
uniprot id: Q9Y2K2
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In SEMDK; decreased protein expression; decreased kinase activity; no effect on the interaction with DEPTOR, MLST8/GbetaL, RICTOR and RPTOR.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Loss of interaction with 14-3-3 proteins in response to cAMP signaling; inhibits cAMP signaling.
up seq anno comments: No effect on cAMP signaling.
up seq anno comments: No effect on interaction with 14-3-3 proteins, nor on cAMP signaling.
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by LKB1
up seq anno comments: Polar residues
up seq anno comments: Prevents phosphorylation and activation by STK11/LKB1 complex.
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Serine/threonine-protein kinase SIK3
up seq anno comments: UBA
up seq anno feature ids: PRO_0000252257
up seq anno feature ids: VAR_035634
up seq anno feature ids: VAR_035635
up seq anno feature ids: VAR_051662
up seq anno feature ids: VAR_051663
up seq anno feature ids: VAR_081542
up seq anno feature ids: VSP_059412
up seq anno feature ids: VSP_059413
up seq anno feature ids: VSP_059414
up seq anno feature ids: VSP_059415
up seq anno feature ids: VSP_059416
up seq anno feature ids: VSP_059417

9606:PHF19
gene id: 9606:PHF19
uniprot id: A0A087X169
uniprot id: B7Z887
uniprot id: B7Z8H3
uniprot id: F5H8K3
uniprot id: Q5T6S3
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Abolishes histone H3K36me3-binding and recruitment of the PRC2 complex and RIOX1; when associated with A-56.
up seq anno comments: Abolishes histone H3K36me3-binding. Abolishes histone H3K36me3-binding and recruitment of the PRC2 complex and RIOX1; when associated with C-50.
up seq anno comments: Disordered
up seq anno comments: Histone H3K36me3 binding
up seq anno comments: Impairs chromatin binding as part of the PRC2 complex.
up seq anno comments: Important for PRC2 dimer stability
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In muthPhf19; abolishes histone H3K36me3-binding and impaired activity of the PRC2 complex and subsequent H3K27me3 methylation.
up seq anno comments: Interaction with SUZ12
up seq anno comments: PHD finger protein 19
up seq anno comments: PHD-type 1
up seq anno comments: PHD-type 2
up seq anno comments: Phosphoserine
up seq anno comments: Polycomb-like MTF2 factor 2 C-terminal
up seq anno comments: Tudor
up seq anno comments: Zinc finger PHD-type
up seq anno feature ids: PRO_0000318570
up seq anno feature ids: VSP_031222
up seq anno feature ids: VSP_031223
up seq anno feature ids: VSP_031224
up seq anno feature ids: VSP_031225

9606:ZNF623
gene id: 9606:ZNF623
uniprot id: O75123
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 12
up seq anno comments: C2H2-type 13
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: Zinc finger protein 623
up seq anno feature ids: PRO_0000047694
up seq anno feature ids: VAR_052881
up seq anno feature ids: VSP_053501

9606:H2AC15
gene id: 9606:H2AC15
uniprot id: A4FTV9
uniprot id: P0C0S8
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Mass
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Mass
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Blocks the inhibition of transcription by RPS6KA5/MSK1.
up seq anno comments: Citrulline; alternate
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
up seq anno comments: Histone H2A C-terminal
up seq anno comments: Histone H2A type 1
up seq anno comments: Histone H2A/H2B/H3
up seq anno comments: Monoisotopic with N-acetylserine.
up seq anno comments: N-acetylserine
up seq anno comments: N5-methylglutamine
up seq anno comments: N6-(2-hydroxyisobutyryl)lysine
up seq anno comments: N6-(2-hydroxyisobutyryl)lysine; alternate
up seq anno comments: N6-(beta-hydroxybutyryl)lysine; alternate
up seq anno comments: N6-crotonyllysine; alternate
up seq anno comments: N6-glutaryllysine
up seq anno comments: N6-glutaryllysine; alternate
up seq anno comments: N6-lactoyllysine; alternate
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: Phosphoserine; by RPS6KA5
up seq anno comments: Phosphothreonine; by DCAF1
up seq anno comments: Removed
up seq anno comments: Symmetric dimethylarginine; by PRMT5; alternate
up seq anno feature ids: PRO_0000055235

9606:DCAF10
gene id: 9606:DCAF10
uniprot id: A0A0A0MQT4
uniprot id: Q5QP82
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: DDB1- and CUL4-associated factor 10
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: WD
up seq anno comments: WD 1
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno comments: WD 7
up seq anno feature ids: PRO_0000306833
up seq anno feature ids: VSP_028513

9606:VDAC1
gene id: 9606:VDAC1
uniprot id: P21796
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Site
up seq anno labels: Strand
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Abolishes ceramide and phosphatidylcholine binding.
up seq anno comments: Beta stranded
up seq anno comments: Conformation remains closed and prevents cytochrome c leakage.
up seq anno comments: Conformation remains open and constitutively allows cytochrome c efflux.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
up seq anno comments: Involved in ceramide and phosphatidylcholine binding. Critical for channel structural stability and gating
up seq anno comments: Loss of PRKN-dependent monoubiquitination increases mitochondria calcium uptake, and ultimately increased apoptosis. Consequently, mitochondria are swelled with defective cristae structures. PRKN-dependent polyubiquitination is unaffected.
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: PRKN-dependent polybiquitination is decreased, whereas PRKN-dependent monoubiquitination, mitochondrial calcium uptake and apoptosis are unaffected; when associated with R-12; R-20 and 109-R-R-110.
up seq anno comments: PRKN-dependent polybiquitination is decreased, whereas PRKN-dependent monoubiquitination, mitochondrial calcium uptake and apoptosis are unaffected; when associated with R-12; R-20 and R-53.
up seq anno comments: PRKN-dependent polybiquitination is decreased, whereas PRKN-dependent monoubiquitination, mitochondrial calcium uptake and apoptosis are unaffected; when associated with R-12; R-53 and 109-R-R-110.
up seq anno comments: PRKN-dependent polybiquitination is decreased, whereas PRKN-dependent monoubiquitination, mitochondrial calcium uptake and apoptosis are unaffected; when associated with R-20; R-53 and 109-R-R-110.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by NEK1
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Removed
up seq anno comments: Voltage-dependent anion-selective channel protein 1
up seq anno feature ids: PRO_0000050499

9606:CSRP1
gene id: 9606:CSRP1
uniprot id: A0A384P5K2
uniprot id: B4DY28
uniprot id: P21291
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Cysteine and glycine-rich protein 1
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: LIM zinc-binding
up seq anno comments: LIM zinc-binding 1
up seq anno comments: LIM zinc-binding 2
up seq anno comments: N6-acetyllysine
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000075715
up seq anno feature ids: VAR_050144

9606:ECM2
gene id: 9606:ECM2
uniprot id: O94769
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Cell attachment site
up seq anno comments: Disordered
up seq anno comments: Extracellular matrix protein 2
up seq anno comments: In isoform 2.
up seq anno comments: LRR 1
up seq anno comments: LRR 10
up seq anno comments: LRR 11
up seq anno comments: LRR 12
up seq anno comments: LRR 13
up seq anno comments: LRR 2
up seq anno comments: LRR 3
up seq anno comments: LRR 4
up seq anno comments: LRR 5
up seq anno comments: LRR 6
up seq anno comments: LRR 7
up seq anno comments: LRR 8
up seq anno comments: LRR 9
up seq anno comments: LRRNT
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: VWFC
up seq anno feature ids: PRO_0000032731
up seq anno feature ids: VAR_024646
up seq anno feature ids: VAR_052010
up seq anno feature ids: VAR_052011
up seq anno feature ids: VSP_039114
up seq anno feature ids: VSP_039115

9606:C4orf33
gene id: 9606:C4orf33
uniprot id: Q8N1A6
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: UPF0462 protein C4orf33
up seq anno feature ids: PRO_0000295714
up seq anno feature ids: VAR_033334
up seq anno feature ids: VAR_033335
up seq anno feature ids: VAR_033336
up seq anno feature ids: VAR_033337

9606:NTM
gene id: 9606:NTM
uniprot id: Q9P121
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Lipid Binding
up seq anno labels: Propeptide
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: GPI-anchor amidated asparagine
up seq anno comments: Ig-like C2-type 1
up seq anno comments: Ig-like C2-type 2
up seq anno comments: Ig-like C2-type 3
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Neurotrimin
up seq anno comments: Removed in mature form
up seq anno feature ids: PRO_0000015110
up seq anno feature ids: PRO_0000015111
up seq anno feature ids: VSP_010939
up seq anno feature ids: VSP_010940
up seq anno feature ids: VSP_010941
up seq anno feature ids: VSP_041165

9606:IP6K1
gene id: 9606:IP6K1
uniprot id: Q92551
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Inositol hexakisphosphate kinase 1
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000066874
up seq anno feature ids: VSP_042756

9606:ELN
gene id: 9606:ELN
uniprot id: B3KRT8
uniprot id: B4E3S4
uniprot id: E7EN65
uniprot id: E7ENM0
uniprot id: G3V0G6
uniprot id: G5E950
uniprot id: P15502
uniprot id: Q59H17
uniprot id: Q6ZUN2
uniprot id: Q8NBI4
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: 4-hydroxyproline
up seq anno comments: 4-hydroxyproline; partial
up seq anno comments: Allysine
up seq anno comments: Disordered
up seq anno comments: Elastin
up seq anno comments: Found as homozygous mutation in a patient with autosomal recessive cutis laxa also carrying a mutation in FBLN5; unknown pathological significance.
up seq anno comments: Hydroxyproline
up seq anno comments: Hydroxyproline; partial
up seq anno comments: In isoform 1, isoform 2, isoform 4 and isoform 5.
up seq anno comments: In isoform 1, isoform 2, isoform 5, isoform 6, isoform 7, isoform 8, isoform 10, isoform 11, isoform 12 and isoform 13.
up seq anno comments: In isoform 1, isoform 9 and isoform 10.
up seq anno comments: In isoform 11.
up seq anno comments: In isoform 5 and isoform 12.
up seq anno comments: In isoform 5, isoform 6, isoform 7, isoform 8, isoform 11 and isoform 12.
up seq anno comments: In isoform 6, isoform 7, isoform 8, isoform 11, isoform 12 and isoform 13.
up seq anno comments: In isoform 7.
up seq anno comments: In isoform 8 and isoform 11.
up seq anno comments: In isoform 8.
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000021163
up seq anno feature ids: PRO_5002801176
up seq anno feature ids: PRO_5003217306
up seq anno feature ids: PRO_5003219423
up seq anno feature ids: PRO_5004283926
up seq anno feature ids: PRO_5004312895
up seq anno feature ids: PRO_5014567665
up seq anno feature ids: PRO_5014571900
up seq anno feature ids: PRO_5015091584
up seq anno feature ids: VAR_020882
up seq anno feature ids: VAR_056869
up seq anno feature ids: VAR_072395
up seq anno feature ids: VSP_012479
up seq anno feature ids: VSP_012480
up seq anno feature ids: VSP_012481
up seq anno feature ids: VSP_012482
up seq anno feature ids: VSP_012483
up seq anno feature ids: VSP_012484
up seq anno feature ids: VSP_012485
up seq anno feature ids: VSP_012486
up seq anno feature ids: VSP_012487
up seq anno feature ids: VSP_012488

9606:DNHD1
gene id: 9606:DNHD1
uniprot id: B0I1S4
uniprot id: Q96M86
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Dynein heavy chain AAA 5 extension
up seq anno comments: Dynein heavy chain AAA module D4
up seq anno comments: Dynein heavy chain C-terminal
up seq anno comments: Dynein heavy chain coiled coil stalk
up seq anno comments: Dynein heavy chain domain-containing protein 1
up seq anno comments: Dynein heavy chain hydrolytic ATP-binding dynein motor region
up seq anno comments: Dynein heavy chain linker
up seq anno comments: Dynein heavy chain region D6 P-loop
up seq anno comments: In SPGF65.
up seq anno comments: In SPGF65; low expression, if any, in sperm flagella.
up seq anno comments: In SPGF65; unknown pathological significance.
up seq anno comments: In SPGF65; unknown pathological significance; low expression, if any, in sperm flagella.
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno feature ids: PRO_0000311985
up seq anno feature ids: VAR_033353
up seq anno feature ids: VAR_033354
up seq anno feature ids: VAR_033355
up seq anno feature ids: VAR_037388
up seq anno feature ids: VAR_037389
up seq anno feature ids: VAR_039308
up seq anno feature ids: VAR_039309
up seq anno feature ids: VAR_039310
up seq anno feature ids: VAR_039311
up seq anno feature ids: VAR_056829
up seq anno feature ids: VAR_056830
up seq anno feature ids: VAR_086769
up seq anno feature ids: VAR_086770
up seq anno feature ids: VAR_086771
up seq anno feature ids: VAR_086772
up seq anno feature ids: VAR_086773
up seq anno feature ids: VAR_086774
up seq anno feature ids: VAR_086775
up seq anno feature ids: VAR_086776
up seq anno feature ids: VAR_086777
up seq anno feature ids: VAR_086778
up seq anno feature ids: VSP_040682
up seq anno feature ids: VSP_040683
up seq anno feature ids: VSP_040684

9606:NAT1
gene id: 9606:NAT1
uniprot id: P18440
uniprot id: Q400J6
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Acyl-thioester intermediate
up seq anno comments: Arylamine N-acetyltransferase 1
up seq anno comments: In allele NAT1*11.
up seq anno comments: In allele NAT1*11; catalyzes the N-acetylation of aromatic amines and the O- and N,O-acetylation of their N-hydroxylated metabolites at rates up to 2-fold higher.
up seq anno comments: In allele NAT1*14; a slow acetylator.
up seq anno comments: In allele NAT1*17; a slow acetylator; has defective enzyme activity.
up seq anno comments: In allele NAT1*21.
up seq anno comments: In allele NAT1*22.
up seq anno comments: In allele NAT1*24.
up seq anno comments: In allele NAT1*25.
up seq anno comments: In allele NAT1*5.
up seq anno comments: N-acetylmethionine
up seq anno comments: Reduced enzymatic activity.
up seq anno feature ids: PRO_0000107904
up seq anno feature ids: VAR_004606
up seq anno feature ids: VAR_004607
up seq anno feature ids: VAR_009069
up seq anno feature ids: VAR_009070
up seq anno feature ids: VAR_009071
up seq anno feature ids: VAR_009072
up seq anno feature ids: VAR_009073
up seq anno feature ids: VAR_009074
up seq anno feature ids: VAR_009510
up seq anno feature ids: VAR_009511
up seq anno feature ids: VAR_020384

9606:TOR1A
gene id: 9606:TOR1A
uniprot id: B3KPA1
uniprot id: O14656
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Found in a patient with early-onset atypical dystonia and myoclonic features; unknown pathological significance.
up seq anno comments: In AMC5.
up seq anno comments: In AMC5; increased localization to the nuclear membrane; induces the formation of spheroid bodies in cells.
up seq anno comments: In DYT1 and AMC5; acts as a dominant negative; increased identical protein binding; loss of interaction with TOR1AIP1 and TOR1AIP2 with loss of ATPase activity induction; increased localization to the nuclear membrane; decreased ATP-dependent chaperone mediated protein folding; changed nuclear membrane organization.
up seq anno comments: In DYT1; increased identical protein binding; decreased ATP-dependent chaperone mediated protein folding; changed nuclear membrane organization.
up seq anno comments: In DYT1; increased identical protein binding; decreased ATP-dependent chaperone mediated protein folding; changed nuclear membrane organization; decreased neuron projection development.
up seq anno comments: In isoform 2.
up seq anno comments: Inhibits sequence signal cleavage.
up seq anno comments: Interaction with KLC1
up seq anno comments: Interaction with SNAPIN
up seq anno comments: Interaction with SYNE3
up seq anno comments: Loss of ATP hydrolysis. Loss of interaction with KLHL14. Localizes in the nuclear envelope. No effect on interaction with TOR1AIP1.
up seq anno comments: Loss of ATP-binding. No effect on interaction with KLHL14. Increases interaction with TOR1AIP1 and TOR1AIP2. Abolishes interaction with SLC6A3.
up seq anno comments: N-glycosylated.
up seq anno comments: N-linked (GlcNAc...) (high mannose) asparagine
up seq anno comments: Reduces N-glycosylation.
up seq anno comments: Torsin-1A
up seq anno feature ids: PRO_0000005506
up seq anno feature ids: PRO_5002790276
up seq anno feature ids: VAR_010788
up seq anno feature ids: VAR_010789
up seq anno feature ids: VAR_020449
up seq anno feature ids: VAR_070932
up seq anno feature ids: VAR_070933
up seq anno feature ids: VAR_070934
up seq anno feature ids: VAR_084705
up seq anno feature ids: VAR_084706
up seq anno feature ids: VSP_026605

9606:HAMP
gene id: 9606:HAMP
uniprot id: P81172
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Mass
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Peptide
up seq anno parent labels: Propeptide
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno labels: Disulfide Bond
up seq anno labels: Mass
up seq anno labels: Peptide
up seq anno labels: Propeptide
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno comments: Hepcidin-20
up seq anno comments: Hepcidin-25
up seq anno comments: In HFE2B.
up seq anno feature ids: PRO_0000013378
up seq anno feature ids: PRO_0000013379
up seq anno feature ids: PRO_0000013380
up seq anno feature ids: VAR_026648
up seq anno feature ids: VAR_042512
up seq anno feature ids: VAR_042513
up seq anno feature ids: VAR_042514

9606:ZNF221
gene id: 9606:ZNF221
uniprot id: Q9UK13
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 12
up seq anno comments: C2H2-type 13
up seq anno comments: C2H2-type 14
up seq anno comments: C2H2-type 15
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4; degenerate
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 221
up seq anno feature ids: PRO_0000047462
up seq anno feature ids: VAR_024201
up seq anno feature ids: VAR_024202
up seq anno feature ids: VAR_024203
up seq anno feature ids: VAR_033557
up seq anno feature ids: VAR_033558
up seq anno feature ids: VAR_033559

9606:PBRM1
gene id: 9606:PBRM1
uniprot id: Q86U86
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: BAH 1
up seq anno comments: BAH 2
up seq anno comments: Basic and acidic residues
up seq anno comments: Bromo 1
up seq anno comments: Bromo 2
up seq anno comments: Bromo 3
up seq anno comments: Bromo 4
up seq anno comments: Bromo 5
up seq anno comments: Bromo 6
up seq anno comments: Disordered
up seq anno comments: Found in a bladder cancer cell line.
up seq anno comments: Found in a brain cancer cell line.
up seq anno comments: Found in a breast cancer cell line.
up seq anno comments: Found in a case of clear cell renal carcinoma; somatic mutation.
up seq anno comments: Found in a colon cancer cell line.
up seq anno comments: Found in a endometrial cancer cell line.
up seq anno comments: Found in a kidney cancer cell line.
up seq anno comments: Found in a lung cancer cell line.
up seq anno comments: Found in a malignant melanoma cell line.
up seq anno comments: Found in a renal carcinoma cell line.
up seq anno comments: Found in a stomach cancer cell line.
up seq anno comments: Found in an endometrial cancer cell line.
up seq anno comments: Found in an ovary carcinoma cell line.
up seq anno comments: Found in hematopoietic and lymphoid cancer cell lines.
up seq anno comments: Found in hematopoietic, lymphoid, lung and liver cancer cell lines.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: HMG box
up seq anno comments: In isoform 2, isoform 3, isoform 4, isoform 5, isoform 7 and isoform 9.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4 and isoform 9.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5, isoform 7 and isoform 8.
up seq anno comments: In isoform 6.
up seq anno comments: In isoform 7 and isoform 8.
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: Protein polybromo-1
up seq anno comments: Requires 2 nucleotide substitutions; found in a colon cancer cell line.
up seq anno feature ids: PRO_0000211207
up seq anno feature ids: VAR_064653
up seq anno feature ids: VAR_064654
up seq anno feature ids: VAR_064655
up seq anno feature ids: VAR_064656

9606:ACBD7
gene id: 9606:ACBD7
uniprot id: Q8N6N7
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Site
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Turn
up seq anno comments: ACB
up seq anno comments: Acyl-CoA-binding domain-containing protein 7
up seq anno feature ids: PRO_0000247588

9606:HMGCLL1
gene id: 9606:HMGCLL1
uniprot id: B7Z212
uniprot id: O95896
uniprot id: Q8TB92
uniprot id: Q9NT06
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Initiator Methionine
up seq anno labels: Lipid Binding
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: 3-hydroxy-3-methylglutaryl-CoA lyase, cytoplasmic
up seq anno comments: Abolishes catalytic activity.
up seq anno comments: Abolishes myristoylation and induces a subcellular location change.
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: N-myristoyl glycine
up seq anno comments: Pyruvate carboxyltransferase
up seq anno comments: Removed
up seq anno feature ids: PRO_0000334669
up seq anno feature ids: VSP_033752
up seq anno feature ids: VSP_038021
up seq anno feature ids: VSP_038022
up seq anno feature ids: VSP_044324

9606:EDA
gene id: 9606:EDA
uniprot id: A0A0U5J797
uniprot id: Q92838
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Abolishes proteolytic processing.
up seq anno comments: Basic and acidic residues
up seq anno comments: Cleavage; by furin
up seq anno comments: Collagen-like
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Ectodysplasin-A, membrane form
up seq anno comments: Ectodysplasin-A, secreted form
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In STHAGX1 and XHED.
up seq anno comments: In STHAGX1.
up seq anno comments: In STHAGX1; decreased interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling.
up seq anno comments: In XHED.
up seq anno comments: In XHED; abolishes proteolytic processing.
up seq anno comments: In XHED; decreased interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling.
up seq anno comments: In XHED; loss of function in EDAR-mediated signaling; not secreted.
up seq anno comments: In XHED; loss of interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling.
up seq anno comments: In XHED; mild.
up seq anno comments: In XHED; unknown pathological significance.
up seq anno comments: In XHED; when associated in cis with C-290; loss of function in EDAR-mediated signaling when associated in cis with C-290; not secreted when associated in cis with C-290.
up seq anno comments: In XHED; when associated in cis with P-289; loss of function in EDAR-mediated signaling when associated in cis with P-289; not secreted when associated in cis with P-289.
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3 and isoform 8.
up seq anno comments: In isoform 4, isoform 6 and isoform 7.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: In isoform 7.
up seq anno comments: In isoform 8.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: TNF family profile
up seq anno feature ids: PRO_0000034538
up seq anno feature ids: PRO_0000034539
up seq anno feature ids: VAR_005179
up seq anno feature ids: VAR_005180
up seq anno feature ids: VAR_005181
up seq anno feature ids: VAR_005182
up seq anno feature ids: VAR_005183
up seq anno feature ids: VAR_005184

9606:VEZF1
gene id: 9606:VEZF1
uniprot id: J3QSH4
uniprot id: Q14119
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: 1
up seq anno comments: 2
up seq anno comments: 3
up seq anno comments: 4
up seq anno comments: 4 X 7 AA repeats of P-[LV]-T-[IL]-T-[ST]-P
up seq anno comments: C2H2-type
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: Disordered
up seq anno comments: In CMD1OO; loss of DNA-binding transcription activator activity, RNA polymerase II-specific.
up seq anno comments: N6-acetyllysine
up seq anno comments: Polar residues
up seq anno comments: Vascular endothelial zinc finger 1
up seq anno feature ids: PRO_0000047435
up seq anno feature ids: VAR_088235

9606:EPS8L3
gene id: 9606:EPS8L3
uniprot id: A8K2J6
uniprot id: Q8TE67
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Disordered
up seq anno comments: Epidermal growth factor receptor kinase substrate 8-like protein 3
up seq anno comments: In HYPT5; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: PTB
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: SH3
up seq anno feature ids: PRO_0000239087
up seq anno feature ids: VAR_026580
up seq anno feature ids: VAR_026581
up seq anno feature ids: VAR_026582
up seq anno feature ids: VAR_050976
up seq anno feature ids: VAR_050977
up seq anno feature ids: VAR_083829
up seq anno feature ids: VSP_019095
up seq anno feature ids: VSP_019096

9606:LSR
gene id: 9606:LSR
uniprot id: Q86X29
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Found in a patient with familial intrahepatic cholestasis; unknown pathological significance.
up seq anno comments: Helical
up seq anno comments: Ig-like V-type
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: Lipolysis-stimulated lipoprotein receptor
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000245308
up seq anno feature ids: VAR_049902
up seq anno feature ids: VAR_086706
up seq anno feature ids: VSP_019691
up seq anno feature ids: VSP_019692
up seq anno feature ids: VSP_019693
up seq anno feature ids: VSP_019694
up seq anno feature ids: VSP_046797
up seq anno feature ids: VSP_057210
up seq anno feature ids: VSP_057211

9606:GET3
gene id: 9606:GET3
uniprot id: O43681
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: ATPase GET3
up seq anno comments: Abolishes ATPase activity, dominantly inhibits the TA protein insertion pathway.
up seq anno comments: In CMD2H; contrary to the wild type, the mutant is unable to rescue cardiac failure in zebrafish lacking GET3; results in decreased function in tail-anchored membrane protein insertion into ER membrane; has no effect on thermal stability.
up seq anno comments: In CMD2H; when associated in cis with 305-Q--Q-348 del.
up seq anno comments: In CMD2H; when associated in cis with variant W-289.
up seq anno comments: N-acetylalanine
up seq anno comments: Reduces TA protein insertion pathway.
up seq anno comments: Removed
up seq anno feature ids: PRO_0000152253
up seq anno feature ids: VAR_018844
up seq anno feature ids: VAR_088104
up seq anno feature ids: VAR_088105
up seq anno feature ids: VAR_088106

9606:PWP1
gene id: 9606:PWP1
uniprot id: B4DJV5
uniprot id: Q13610
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Periodic tryptophan protein 1 homolog
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: WD
up seq anno comments: WD 1
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno comments: WD 7
up seq anno feature ids: PRO_0000051171
up seq anno feature ids: VAR_033808
up seq anno feature ids: VSP_056168
up seq anno feature ids: VSP_056169

9606:RAB29
gene id: 9606:RAB29
uniprot id: O14966
uniprot id: Q6FGU7
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Cleavage; by S.Typhimurium viral protease GtgE
up seq anno comments: Effector region
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of LRRK2 binding. Does not stimulate LRRK2 kinase activity. Localized to the cytosol.
up seq anno comments: Loss of phosphorylation by LRRK2.
up seq anno comments: Loss of phosphorylation by LRRK2. Does not stimulate LRRK2 kinase activity; when associated with E-71.
up seq anno comments: Loss of phosphorylation by LRRK2. Does not stimulate LRRK2 kinase activity; when associated with E-72.
up seq anno comments: Phosphoserine; by LRRK2
up seq anno comments: Phosphothreonine; by LRRK2
up seq anno comments: Ras-related protein Rab-7L1
up seq anno comments: S-geranylgeranyl cysteine
up seq anno feature ids: PRO_0000121127
up seq anno feature ids: VSP_043391
up seq anno feature ids: VSP_045078

9606:AGO3
gene id: 9606:AGO3
uniprot id: B4E1P5
uniprot id: Q9H9G7
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with guide RNA
up seq anno comments: Loss of RNA slicer activity.
up seq anno comments: N-acetylmethionine
up seq anno comments: PAZ
up seq anno comments: Phosphoserine
up seq anno comments: Piwi
up seq anno comments: Protein argonaute-3
up seq anno feature ids: PRO_0000194061
up seq anno feature ids: VSP_041084

9606:ZC3H11A
gene id: 9606:ZC3H11A
uniprot id: O75152
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: C3H1-type 1
up seq anno comments: C3H1-type 2
up seq anno comments: C3H1-type 3
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Zinc finger CCCH domain-containing protein 11A
up seq anno feature ids: PRO_0000213905
up seq anno feature ids: VAR_052967

9606:NUB1
gene id: 9606:NUB1
uniprot id: H3BM14
uniprot id: H3BM74
uniprot id: Q9Y5A7
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: NEDD8 ultimate buster 1
up seq anno comments: NEDD8-binding 1
up seq anno comments: NEDD8-binding 2
up seq anno comments: No effect on NEDD8-binding.
up seq anno comments: Nuclear localization signal
up seq anno comments: Partial inhibition of NEDD8-binding.
up seq anno comments: Polar residues
up seq anno comments: Suppression of NEDD8-binding; when associated with A-464; A-468 and A-587. Suppression of NEDD8-buster function; when associated with A-587.
up seq anno comments: Suppression of NEDD8-binding; when associated with A-464; A-468 and A-591. Suppression of NEDD8-buster function; when associated with A-591.
up seq anno comments: UBA
up seq anno comments: UBA 1
up seq anno comments: UBA 2
up seq anno comments: UBA 3
up seq anno feature ids: PRO_0000210992
up seq anno feature ids: VAR_057369
up seq anno feature ids: VSP_008335

9606:KCNMB2
gene id: 9606:KCNMB2
uniprot id: B5BNW5
uniprot id: B7Z513
uniprot id: Q9Y691
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Abolishes inactivation of KCNMA1 channel.
up seq anno comments: Ball and chain
up seq anno comments: Calcium-activated potassium channel subunit beta-2
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: KCNMB2 ball/chain
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000187051

9606:MSS51
gene id: 9606:MSS51
uniprot id: Q4VC12
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: MYND-type
up seq anno comments: Putative protein MSS51 homolog, mitochondrial
up seq anno feature ids: PRO_0000289109
up seq anno feature ids: VAR_052993
up seq anno feature ids: VSP_025898
up seq anno feature ids: VSP_025899
up seq anno feature ids: VSP_025900
up seq anno feature ids: VSP_025901

9606:TMEM14B
gene id: 9606:TMEM14B
uniprot id: A0A087WU83
uniprot id: C9JCY4
uniprot id: C9JQS0
uniprot id: Q9NUH8
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Transmembrane protein 14B
up seq anno feature ids: PRO_0000221172
up seq anno feature ids: VSP_046899

9606:RPS6KB2
gene id: 9606:RPS6KB2
uniprot id: Q9UBS0
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: AGC-kinase C-terminal
up seq anno comments: Disordered
up seq anno comments: In an ovarian mucinous carcinoma sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PKC
up seq anno comments: Pro residues
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Ribosomal protein S6 kinase beta-2
up seq anno feature ids: PRO_0000086214
up seq anno feature ids: VAR_040643
up seq anno feature ids: VAR_040644
up seq anno feature ids: VAR_040645
up seq anno feature ids: VAR_040646
up seq anno feature ids: VSP_056441
up seq anno feature ids: VSP_056442

9606:FAM222A
gene id: 9606:FAM222A
uniprot id: Q5U5X8
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Sequence Conflict
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno comments: Protein FAM222A
up seq anno feature ids: PRO_0000274239

9606:FABP9
gene id: 9606:FABP9
uniprot id: Q0Z7S8
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Strand
up seq anno comments: Fatty acid-binding protein 9
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000317292

9606:MATN1
gene id: 9606:MATN1
uniprot id: P21941
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno comments: Cartilage matrix protein
up seq anno comments: EGF-like
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: VWFA 1
up seq anno comments: VWFA 2
up seq anno feature ids: PRO_0000007495

9606:HMCES
gene id: 9606:HMCES
uniprot id: Q96FZ2
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Site
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abasic site processing protein HMCES
up seq anno comments: Abolished ability to bind DNA and abolished ability to promote class switch recombination (CSR) in B-cells.
up seq anno comments: Abolished interaction with PCNA. Cells are hypersensitive to ionizing radiations.
up seq anno comments: Basic and acidic residues
up seq anno comments: Cells are hypersensitive to ionizing radiations. Abolished ability to form a covalent cross-link with DNA. Abolished binding to single-stranded DNA (ssDNA).
up seq anno comments: Cells are hypersensitive to ionizing radiations. Abolished ability to form a covalent cross-link with DNA. Does not affect single-stranded DNA (ssDNA)-binding. Does not affect ability to promote class switch recombination (CSR) in B-cells.
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Nucleophile
up seq anno comments: PIP-box
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno comments: Required for sensing abasic sites
up seq anno comments: Required to stabilize abasic sites
up seq anno comments: Strongly reduced binding to single-stranded DNA.
up seq anno comments: Thiazolidine linkage to a ring-opened DNA abasic site
up seq anno feature ids: PRO_0000164394

9606:DIS3L
gene id: 9606:DIS3L
uniprot id: Q8TF46
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Complete loss of exonuclease activity.
up seq anno comments: DIS3-like exonuclease 1
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: No change of exonuclease activity.
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000314810
up seq anno feature ids: VAR_038056
up seq anno feature ids: VAR_038057
up seq anno feature ids: VAR_038058
up seq anno feature ids: VSP_030366
up seq anno feature ids: VSP_030367
up seq anno feature ids: VSP_030368
up seq anno feature ids: VSP_030369

9606:EPHA10
gene id: 9606:EPHA10
uniprot id: Q4G0R4
uniprot id: Q5JZY3
uniprot id: Q8N289
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Eph LBD
up seq anno comments: Ephrin type-A receptor 10
up seq anno comments: Extracellular
up seq anno comments: Fibronectin type-III
up seq anno comments: Fibronectin type-III 1
up seq anno comments: Fibronectin type-III 2
up seq anno comments: Helical
up seq anno comments: In a breast infiltrating ductal carcinoma sample; somatic mutation.
up seq anno comments: In a gastric adenocarcinoma sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Protein kinase
up seq anno comments: SAM
up seq anno feature ids: PRO_0000042157
up seq anno feature ids: PRO_5004314210
up seq anno feature ids: VAR_042159
up seq anno feature ids: VAR_042160
up seq anno feature ids: VAR_042161
up seq anno feature ids: VAR_042162
up seq anno feature ids: VAR_042163
up seq anno feature ids: VAR_042164
up seq anno feature ids: VAR_055992
up seq anno feature ids: VAR_055993
up seq anno feature ids: VAR_055994
up seq anno feature ids: VAR_055995
up seq anno feature ids: VAR_055996
up seq anno feature ids: VSP_015772
up seq anno feature ids: VSP_015773
up seq anno feature ids: VSP_015774
up seq anno feature ids: VSP_015775

9606:PCDHB4
gene id: 9606:PCDHB4
uniprot id: Q9Y5E5
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cadherin 1
up seq anno comments: Cadherin 2
up seq anno comments: Cadherin 3
up seq anno comments: Cadherin 4
up seq anno comments: Cadherin 5
up seq anno comments: Cadherin 6
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Protocadherin beta-4
up seq anno feature ids: PRO_0000003920
up seq anno feature ids: VAR_021878
up seq anno feature ids: VAR_048548
up seq anno feature ids: VAR_048549
up seq anno feature ids: VAR_048550
up seq anno feature ids: VAR_048551

9606:PI3
gene id: 9606:PI3
uniprot id: P19957
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno comments: 2 X tandem repeats of SVP-1 like motif
up seq anno comments: Elafin
up seq anno comments: SVP-1 clotting 1
up seq anno comments: SVP-1 clotting 2
up seq anno comments: WAP
up seq anno feature ids: PRO_0000041357
up seq anno feature ids: PRO_0000041358
up seq anno feature ids: VAR_024695
up seq anno feature ids: VAR_052947

9606:LTBP3
gene id: 9606:LTBP3
uniprot id: B9EG76
uniprot id: Q8WYU6
uniprot id: Q9NS15
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: EGF-like
up seq anno comments: EGF-like 1
up seq anno comments: EGF-like 10; calcium-binding
up seq anno comments: EGF-like 11; calcium-binding
up seq anno comments: EGF-like 12; calcium-binding
up seq anno comments: EGF-like 13; calcium-binding
up seq anno comments: EGF-like 2; calcium-binding
up seq anno comments: EGF-like 3
up seq anno comments: EGF-like 4; calcium-binding
up seq anno comments: EGF-like 5; calcium-binding
up seq anno comments: EGF-like 6; calcium-binding
up seq anno comments: EGF-like 7; calcium-binding
up seq anno comments: EGF-like 8; calcium-binding
up seq anno comments: EGF-like 9; calcium-binding
up seq anno comments: In GPHYSD3; unknown pathological significance; no effect on TGF-beta secretion.
up seq anno comments: In isoform 2.
up seq anno comments: Interchain (with C-33 in TGFB1); in linked form
up seq anno comments: Latent-transforming growth factor beta-binding protein 3
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: TB
up seq anno comments: TB 1
up seq anno comments: TB 2
up seq anno comments: TB 3
up seq anno comments: TB 4
up seq anno feature ids: PRO_0000007646
up seq anno feature ids: VAR_080565
up seq anno feature ids: VSP_009241

9606:GFRA1
gene id: 9606:GFRA1
uniprot id: B7Z856
uniprot id: P56159
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Lipid Binding
up seq anno labels: Propeptide
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: 1
up seq anno comments: 2
up seq anno comments: 3
up seq anno comments: GDNF family receptor alpha-1
up seq anno comments: GDNF/GAS1
up seq anno comments: GPI-anchor amidated serine
up seq anno comments: In RHDA4.
up seq anno comments: In isoform 2.
up seq anno comments: May be involved in congenital central hypoventilation syndrome.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Removed in mature form
up seq anno feature ids: PRO_0000010777
up seq anno feature ids: PRO_0000010778
up seq anno feature ids: VAR_012488
up seq anno feature ids: VAR_012489
up seq anno feature ids: VAR_018261
up seq anno feature ids: VAR_087454
up seq anno feature ids: VAR_087455
up seq anno feature ids: VSP_001660

9606:NPB
gene id: 9606:NPB
uniprot id: Q8NG41
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Peptide
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Signal Peptide
up seq anno labels: Peptide
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Signal Peptide
up seq anno comments: Disordered
up seq anno comments: Neuropeptide B-23
up seq anno comments: Neuropeptide B-29
up seq anno feature ids: PRO_0000019836
up seq anno feature ids: PRO_0000019837
up seq anno feature ids: PRO_0000019838

9606:KCNK16
gene id: 9606:KCNK16
uniprot id: Q96T55
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: INTRAMEM
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: INTRAMEM
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Helical
up seq anno comments: In isoform b.
up seq anno comments: In isoform c.
up seq anno comments: In isoform d.
up seq anno comments: Pore-forming; Name=Pore-forming 1
up seq anno comments: Pore-forming; Name=Pore-forming 2
up seq anno comments: Potassium channel subfamily K member 16
up seq anno feature ids: PRO_0000101767
up seq anno feature ids: VAR_052430
up seq anno feature ids: VAR_063636
up seq anno feature ids: VAR_063637
up seq anno feature ids: VSP_039863
up seq anno feature ids: VSP_039864
up seq anno feature ids: VSP_039865

9606:SLC27A5
gene id: 9606:SLC27A5
uniprot id: Q9Y2P5
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Long-chain fatty acid transport protein 5
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000193213
up seq anno feature ids: VAR_048243
up seq anno feature ids: VAR_048244
up seq anno feature ids: VSP_055810

9606:PLCZ1
gene id: 9606:PLCZ1
uniprot id: A0A140VJR9
uniprot id: Q86YW0
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1
up seq anno comments: C2
up seq anno comments: Disordered
up seq anno comments: EF-hand
up seq anno comments: In SPGF17; loss of function in egg activation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: PI-PLC X-box
up seq anno comments: PI-PLC Y-box
up seq anno feature ids: PRO_0000347244
up seq anno feature ids: VAR_050542
up seq anno feature ids: VAR_077876
up seq anno feature ids: VSP_035076
up seq anno feature ids: VSP_052862

9606:SYNJ2BP
gene id: 9606:SYNJ2BP
uniprot id: P57105
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: Helical
up seq anno comments: Mitochondrial intermembrane
up seq anno comments: PDZ
up seq anno comments: Synaptojanin-2-binding protein
up seq anno feature ids: PRO_0000072383
up seq anno feature ids: VAR_051394

9606:PSD3
gene id: 9606:PSD3
uniprot id: B3KRC4
uniprot id: Q9NYI0
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: PH
up seq anno comments: PH and SEC7 domain-containing protein 3
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: SEC7
up seq anno feature ids: PRO_0000120205
up seq anno feature ids: VAR_036947
up seq anno feature ids: VAR_036948
up seq anno feature ids: VAR_036949
up seq anno feature ids: VSP_023029
up seq anno feature ids: VSP_029155
up seq anno feature ids: VSP_029156

9606:TSG101
gene id: 9606:TSG101
uniprot id: Q99816
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes interaction with CEP55 and midbody localization; no effect on interaction with ESCRT-I proteins, PDCD6IP and viral proteins.
up seq anno comments: Abolishes interaction with CEP55.
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with CEP55
up seq anno comments: Loss of interaction with VPS28. No effect on interaction with VPS37C.
up seq anno comments: N-acetylalanine
up seq anno comments: No change in interaction with p6; no effect on HIV-1 budding.
up seq anno comments: PTAP motif
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Reduces interaction with HIV-1 p6.
up seq anno comments: Reduces interaction with HIV-1 p6; impairs HIV-1 budding.
up seq anno comments: Reduces interaction with VPS37B and HIV-1 p6; abolishes interaction with PDCD6IP; impairs HIV-1 budding; inhibits down-regulation of EGFR. Abolishes MGRN1-binding. Loss of interaction with ARRDC1.
up seq anno comments: Reduces interaction with ubiquitin.
up seq anno comments: Reduces interaction with ubiquitin. No effect on MGRN1-binding.
up seq anno comments: Reduces interaction with ubiquitin; inhibits down-regulation of EGFR.
up seq anno comments: Reduces interaction with ubiquitin; no effect on in interaction with HIV-1 p6.
up seq anno comments: Removed
up seq anno comments: SB
up seq anno comments: Tumor susceptibility gene 101 protein
up seq anno comments: UEV
up seq anno feature ids: PRO_0000082606
up seq anno feature ids: VAR_034572
up seq anno feature ids: VSP_004440

9606:EMX2
gene id: 9606:EMX2
uniprot id: Q04743
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Homeobox
up seq anno comments: Homeobox protein EMX2
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000048868
up seq anno feature ids: VSP_045823

9606:ZNF606
gene id: 9606:ZNF606
uniprot id: B4DFC8
uniprot id: Q8WXB4
uniprot id: Q9H7U2
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 12
up seq anno comments: C2H2-type 13
up seq anno comments: C2H2-type 14
up seq anno comments: C2H2-type 15
up seq anno comments: C2H2-type 16
up seq anno comments: C2H2-type 1; degenerate
up seq anno comments: C2H2-type 2; degenerate
up seq anno comments: C2H2-type 3; degenerate
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 606
up seq anno feature ids: PRO_0000047688
up seq anno feature ids: VAR_052872

9606:CARS1
gene id: 9606:CARS1
uniprot id: B4DPV7
uniprot id: P49589
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: 'HIGH' region
up seq anno comments: 'KMSKS' region
up seq anno comments: Basic and acidic residues
up seq anno comments: Cysteine--tRNA ligase, cytoplasmic
up seq anno comments: Disordered
up seq anno comments: In MDBH; 50% reduction of cysteine-tRNA ligase activity.
up seq anno comments: In MDBH; 84% reduction of cysteine-tRNA ligase activity.
up seq anno comments: In MDBH; loss-of-function variant unable to rescue viability defects in a yeast complementation assay.
up seq anno comments: In MDBH; undetectable mutant protein in patient cells; loss-of-function variant unable to rescue viability defects in a yeast complementation assay.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno comments: tRNA synthetases class I catalytic
up seq anno feature ids: PRO_0000159550
up seq anno feature ids: VAR_084305
up seq anno feature ids: VAR_084306
up seq anno feature ids: VAR_084307
up seq anno feature ids: VAR_084308
up seq anno feature ids: VSP_006312
up seq anno feature ids: VSP_043571

9606:SRGAP2
gene id: 9606:SRGAP2
uniprot id: A0A075B7B5
uniprot id: B4DFE5
uniprot id: B7Z3G4
uniprot id: B7ZM87
uniprot id: O75044
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolished RAC1 GTPase activity; when associated with A-566.
up seq anno comments: Abolished RAC1 GTPase activity; when associated with L-527.
up seq anno comments: Abolished interaction with ROBO1.
up seq anno comments: Basic and acidic residues
up seq anno comments: Decreased protein stability.
up seq anno comments: Disordered
up seq anno comments: Does not affect protein stability.
up seq anno comments: F-BAR
up seq anno comments: In F-BARx-R5E mutant; abolished binding to membranes; when associated with 234--E--E-238.
up seq anno comments: In F-BARx-R5E mutant; abolished binding to membranes; when associated with 54-E-E-55.
up seq anno comments: Increased interaction with ROBO1.
up seq anno comments: Loss of the ability to stimulate cell migration, to localize at the plasma membrane protrusions and to dimerize.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Rho-GAP
up seq anno comments: SH3
up seq anno comments: SLIT-ROBO Rho GTPase-activating protein 2
up seq anno comments: Symmetric dimethylarginine; by PRMT5
up seq anno feature ids: PRO_0000056767
up seq anno feature ids: VAR_055834

9606:NCLN
gene id: 9606:NCLN
uniprot id: Q969V3
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: BOS complex subunit NCLN
up seq anno comments: Cytoplasmic
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000019687
up seq anno feature ids: VAR_022552
up seq anno feature ids: VAR_050276
up seq anno feature ids: VSP_013851

9606:COQ3
gene id: 9606:COQ3
uniprot id: Q9NZJ6
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Transit Peptide
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Transit Peptide
up seq anno comments: Mitochondrion
up seq anno comments: N6-acetyllysine
up seq anno comments: Ubiquinone biosynthesis O-methyltransferase, mitochondrial
up seq anno feature ids: PRO_0000035926
up seq anno feature ids: VAR_020789
up seq anno feature ids: VAR_020790
up seq anno feature ids: VAR_061925

9606:IFIT1
gene id: 9606:IFIT1
uniprot id: P09914
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes PPP-RNA-binding.
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with PPP-RNA
up seq anno comments: Interaction with the 5'-triphosphate group of PPP-RNA
up seq anno comments: Interferon-induced protein with tetratricopeptide repeats 1
up seq anno comments: Reduced PPP-RNA-binding.
up seq anno comments: TPR 1
up seq anno comments: TPR 10
up seq anno comments: TPR 2
up seq anno comments: TPR 3
up seq anno comments: TPR 4
up seq anno comments: TPR 5
up seq anno comments: TPR 6
up seq anno comments: TPR 7
up seq anno comments: TPR 8
up seq anno comments: TPR 9
up seq anno feature ids: PRO_0000106344
up seq anno feature ids: VAR_052614
up seq anno feature ids: VSP_054831

9606:HGH1
gene id: 9606:HGH1
uniprot id: Q96BK8
uniprot id: Q9BTY7
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno comments: Disordered
up seq anno comments: N-acetylglycine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Protein HGH1 C-terminal
up seq anno comments: Protein HGH1 N-terminal
up seq anno comments: Protein HGH1 homolog
up seq anno comments: Removed
up seq anno feature ids: PRO_0000273318

9606:YIPF7
gene id: 9606:YIPF7
uniprot id: Q8N8F6
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Protein YIPF7
up seq anno feature ids: PRO_0000333007
up seq anno feature ids: VAR_043036
up seq anno feature ids: VSP_033431
up seq anno feature ids: VSP_033432
up seq anno feature ids: VSP_033433
up seq anno feature ids: VSP_033434
up seq anno feature ids: VSP_033435

9606:GNG4
gene id: 9606:GNG4
uniprot id: B1APZ0
uniprot id: P50150
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Propeptide
up seq anno comments: Cysteine methyl ester
up seq anno comments: G protein gamma
up seq anno comments: Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-4
up seq anno comments: Removed in mature form
up seq anno comments: S-geranylgeranyl cysteine
up seq anno feature ids: PRO_0000012621
up seq anno feature ids: PRO_0000012622

9606:IFNL1
gene id: 9606:IFNL1
uniprot id: A0A7R8C391
uniprot id: Q8IU54
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Turn
up seq anno comments: Interferon lambda-1
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000015511
up seq anno feature ids: PRO_5036402069
up seq anno feature ids: VAR_024506

9606:NFKBIB
gene id: 9606:NFKBIB
uniprot id: G5E9C2
uniprot id: Q15653
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: ANK
up seq anno comments: ANK 1
up seq anno comments: ANK 2
up seq anno comments: ANK 3
up seq anno comments: ANK 4
up seq anno comments: ANK 5
up seq anno comments: ANK 6
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: NF-kappa-B inhibitor beta
up seq anno comments: No degradation; when associated with A-19.
up seq anno comments: No degradation; when associated with A-23.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CK2
up seq anno comments: Phosphoserine; by RPS6KA1
up seq anno feature ids: PRO_0000067004
up seq anno feature ids: VAR_020771
up seq anno feature ids: VSP_012409
up seq anno feature ids: VSP_012410

9606:ACSF2
gene id: 9606:ACSF2
uniprot id: B4DTB9
uniprot id: E9PF16
uniprot id: Q96CM8
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transit Peptide
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transit Peptide
up seq anno comments: AMP-binding enzyme C-terminal
up seq anno comments: AMP-dependent synthetase/ligase
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Medium-chain acyl-CoA ligase ACSF2, mitochondrial
up seq anno comments: Mitochondrion
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-succinyllysine
up seq anno comments: N6-succinyllysine; alternate
up seq anno feature ids: PRO_0000315793
up seq anno feature ids: VAR_038304
up seq anno feature ids: VAR_038305
up seq anno feature ids: VSP_055803
up seq anno feature ids: VSP_055804
up seq anno feature ids: VSP_055805

9606:GAB3
gene id: 9606:GAB3
uniprot id: Q8WWW8
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: GRB2-associated-binding protein 3
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: PH
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000318939
up seq anno feature ids: VAR_038917
up seq anno feature ids: VSP_045033
up seq anno feature ids: VSP_055259

9606:IRX6
gene id: 9606:IRX6
uniprot id: P78412
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Homeobox
up seq anno comments: Iroquois-class homeodomain protein IRX-6
up seq anno feature ids: PRO_0000049162

9606:OR2AE1
gene id: 9606:OR2AE1
uniprot id: Q8NHA4
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 2AE1
up seq anno feature ids: PRO_0000150471
up seq anno feature ids: VAR_053138
up seq anno feature ids: VAR_053139
up seq anno feature ids: VAR_062019

9606:KRT32
gene id: 9606:KRT32
uniprot id: Q14532
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno comments: Coil 1A
up seq anno comments: Coil 1B
up seq anno comments: Coil 2
up seq anno comments: Head
up seq anno comments: IF rod
up seq anno comments: Keratin, type I cuticular Ha2
up seq anno comments: Linker 1
up seq anno comments: Linker 12
up seq anno comments: Stutter
up seq anno comments: Tail
up seq anno feature ids: PRO_0000063686
up seq anno feature ids: VAR_056011
up seq anno feature ids: VAR_056012
up seq anno feature ids: VAR_056013
up seq anno feature ids: VAR_056014
up seq anno feature ids: VAR_056015
up seq anno feature ids: VAR_056016
up seq anno feature ids: VAR_060237
up seq anno feature ids: VAR_060238
up seq anno feature ids: VAR_060239
up seq anno feature ids: VAR_060240
up seq anno feature ids: VAR_069391

9606:SMIM19
gene id: 9606:SMIM19
uniprot id: Q96E16
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: Small integral membrane protein 19
up seq anno feature ids: PRO_0000264626

9606:NPVF
gene id: 9606:NPVF
uniprot id: Q9HCQ7
up seq anno parent labels: Experimental Information
up seq anno parent labels: Mass
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Peptide
up seq anno parent labels: Propeptide
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno labels: Mass
up seq anno labels: Modified Residue
up seq anno labels: Peptide
up seq anno labels: Propeptide
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: Neuropeptide NPSF
up seq anno comments: Neuropeptide NPVF
up seq anno comments: Neuropeptide RFRP-1
up seq anno comments: Neuropeptide RFRP-2
up seq anno comments: Phenylalanine amide
up seq anno feature ids: PRO_0000009920
up seq anno feature ids: PRO_0000009921
up seq anno feature ids: PRO_0000009922
up seq anno feature ids: PRO_0000009923
up seq anno feature ids: PRO_0000009924
up seq anno feature ids: PRO_0000009925
up seq anno feature ids: PRO_0000009926
up seq anno feature ids: PRO_0000401171
up seq anno feature ids: VAR_014073
up seq anno feature ids: VAR_014074
up seq anno feature ids: VAR_030644
up seq anno feature ids: VSP_039962

9606:CKMT2
gene id: 9606:CKMT2
uniprot id: P17540
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: Cardiolipin-binding
up seq anno comments: Creatine kinase S-type, mitochondrial
up seq anno comments: Mitochondrion
up seq anno comments: Phosphagen kinase C-terminal
up seq anno comments: Phosphagen kinase N-terminal
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno feature ids: PRO_0000016594

9606:ADPGK
gene id: 9606:ADPGK
uniprot id: Q9BRR6
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: ADP-dependent glucokinase
up seq anno comments: ADPK
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000184776
up seq anno feature ids: VAR_060085
up seq anno feature ids: VSP_013548
up seq anno feature ids: VSP_013549
up seq anno feature ids: VSP_013550
up seq anno feature ids: VSP_013551
up seq anno feature ids: VSP_013552
up seq anno feature ids: VSP_013553
up seq anno feature ids: VSP_013554
up seq anno feature ids: VSP_035014

9606:PHF6
gene id: 9606:PHF6
uniprot id: Q8IWS0
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: C2HC pre-PHD-type 1
up seq anno comments: C2HC pre-PHD-type 2
up seq anno comments: Disordered
up seq anno comments: Extended PHD1 domain (ePHD1)
up seq anno comments: Extended PHD2 domain (ePHD2)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In BFLS.
up seq anno comments: In BFLS; Loss of interaction with UBTF.
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: N-acetylserine
up seq anno comments: Nuclear localization signal
up seq anno comments: Nucleolar localization signal
up seq anno comments: PHD finger protein 6
up seq anno comments: PHD-type 1
up seq anno comments: PHD-type 2
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno feature ids: PRO_0000059293
up seq anno feature ids: VAR_017633
up seq anno feature ids: VAR_017634
up seq anno feature ids: VAR_017635
up seq anno feature ids: VAR_017636
up seq anno feature ids: VAR_017637
up seq anno feature ids: VAR_076933
up seq anno feature ids: VSP_009372
up seq anno feature ids: VSP_009373
up seq anno feature ids: VSP_009374
up seq anno feature ids: VSP_053441
up seq anno feature ids: VSP_054937

9606:ARMC8
gene id: 9606:ARMC8
uniprot id: B7Z637
uniprot id: Q8IUR7
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: ARM
up seq anno comments: ARM 1
up seq anno comments: ARM 10
up seq anno comments: ARM 11
up seq anno comments: ARM 12
up seq anno comments: ARM 13
up seq anno comments: ARM 14
up seq anno comments: ARM 2
up seq anno comments: ARM 3
up seq anno comments: ARM 4
up seq anno comments: ARM 5
up seq anno comments: ARM 6
up seq anno comments: ARM 7
up seq anno comments: ARM 8
up seq anno comments: ARM 9
up seq anno comments: Armadillo repeat-containing protein 8
up seq anno comments: In isoform 2 and isoform 6.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 6.
up seq anno comments: In isoform 7.
up seq anno comments: In isoform 8.
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000284408
up seq anno feature ids: VSP_024509
up seq anno feature ids: VSP_024512
up seq anno feature ids: VSP_024513
up seq anno feature ids: VSP_024514
up seq anno feature ids: VSP_044774
up seq anno feature ids: VSP_045137

9606:KRTAP21-3
gene id: 9606:KRTAP21-3
uniprot id: Q3LHN1
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno comments: Keratin-associated protein 21-3
up seq anno feature ids: PRO_0000386448

9606:FCGRT
gene id: 9606:FCGRT
uniprot id: A0A024QZI2
uniprot id: P55899
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Alpha-1
up seq anno comments: Alpha-2
up seq anno comments: Alpha-3
up seq anno comments: Connecting peptide
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Ig-like
up seq anno comments: Ig-like C1-type
up seq anno comments: IgG receptor FcRn large subunit p51
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000015157
up seq anno feature ids: PRO_5014214179

9606:NOL10
gene id: 9606:NOL10
uniprot id: Q9BSC4
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: N-acetylmethionine
up seq anno comments: Nucleolar protein 10
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: WD 1
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno comments: WD 7
up seq anno feature ids: PRO_0000051101
up seq anno feature ids: VAR_060041
up seq anno feature ids: VSP_015454
up seq anno feature ids: VSP_015455
up seq anno feature ids: VSP_015456
up seq anno feature ids: VSP_015457
up seq anno feature ids: VSP_015458
up seq anno feature ids: VSP_045122

9606:MBNL2
gene id: 9606:MBNL2
uniprot id: A2A3S3
uniprot id: Q5VZF2
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: C3H1-type
up seq anno comments: C3H1-type 1
up seq anno comments: C3H1-type 2
up seq anno comments: C3H1-type 3
up seq anno comments: C3H1-type 4
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Muscleblind-like protein 2
up seq anno feature ids: PRO_0000274872
up seq anno feature ids: VSP_022887
up seq anno feature ids: VSP_022888

9606:GPER1
gene id: 9606:GPER1
uniprot id: Q63ZY2
uniprot id: Q99527
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled estrogen receptor 1
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-acetylmethionine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000069310
up seq anno feature ids: VAR_033319

9606:RBM14-RBM4
gene id: 9606:RBM14-RBM4
uniprot id: A0A0A6YYI9
uniprot id: Q96PK6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: RNA-binding protein 14
up seq anno comments: RRM
up seq anno comments: RRM 1
up seq anno comments: RRM 2
up seq anno comments: TRBP-interacting domain; interaction with STIL
up seq anno feature ids: PRO_0000081774
up seq anno feature ids: VSP_015078
up seq anno feature ids: VSP_015079
up seq anno feature ids: VSP_044641
up seq anno feature ids: VSP_044642
up seq anno feature ids: VSP_047109
up seq anno feature ids: VSP_047110
up seq anno feature ids: VSP_047494
up seq anno feature ids: VSP_047495

9606:SETDB1
gene id: 9606:SETDB1
uniprot id: Q15047
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes methyltransferase activity.
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
up seq anno comments: Histone-lysine N-methyltransferase SETDB1
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: MBD
up seq anno comments: N6,N6,N6-trimethyllysine; alternate
up seq anno comments: N6,N6-dimethyllysine; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Post-SET
up seq anno comments: Pre-SET
up seq anno comments: Pro residues
up seq anno comments: SET
up seq anno comments: Tudor 1
up seq anno comments: Tudor 2
up seq anno feature ids: PRO_0000186064
up seq anno feature ids: VAR_014284
up seq anno feature ids: VAR_014285
up seq anno feature ids: VAR_014286
up seq anno feature ids: VAR_031281
up seq anno feature ids: VSP_002217
up seq anno feature ids: VSP_002218
up seq anno feature ids: VSP_034600

9606:CAMK2N1
gene id: 9606:CAMK2N1
uniprot id: Q7Z7J9
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Region
up seq anno comments: CAMK2 inhibitory domain
up seq anno comments: Calcium/calmodulin-dependent protein kinase II inhibitor 1
up seq anno feature ids: PRO_0000338393

9606:TRPV1
gene id: 9606:TRPV1
uniprot id: Q8NER1
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: AD
up seq anno comments: ANK 1
up seq anno comments: ANK 2
up seq anno comments: ANK 3
up seq anno comments: ANK 4
up seq anno comments: ANK 5
up seq anno comments: ANK 6
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with calmodulin
up seq anno comments: Loss of sensitivity to capsaicin.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PKA and PKD
up seq anno comments: Phosphoserine; by PKC/PRKCE
up seq anno comments: Phosphoserine; by PKC/PRKCE and PKC/PRKCZ
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by PKA; in vitro
up seq anno comments: Reduces sensitivity to capsaicin 40-fold.
up seq anno comments: Required for PIP2-mediated channel inhibition
up seq anno comments: Selectivity filter
up seq anno comments: Transient receptor potential cation channel subfamily V member 1
up seq anno feature ids: PRO_0000215338
up seq anno feature ids: VAR_022246
up seq anno feature ids: VAR_057307
up seq anno feature ids: VAR_057308
up seq anno feature ids: VAR_057309
up seq anno feature ids: VAR_071244
up seq anno feature ids: VSP_056862

9606:OTOS
gene id: 9606:OTOS
uniprot id: Q8NHW6
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Otospiralin
up seq anno feature ids: PRO_0000021976
up seq anno feature ids: VAR_020601

9606:COQ2
gene id: 9606:COQ2
uniprot id: Q96H96
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transit Peptide
up seq anno labels: Transmembrane
up seq anno comments: 4-hydroxybenzoate polyprenyltransferase, mitochondrial
up seq anno comments: Helical
up seq anno comments: In COQ10D1; decreased 4-hydroxybenzoate decaprenyltransferase activity.
up seq anno comments: In COQ10D1; decreased ubiquinone biosynthesis.
up seq anno comments: In COQ10D1; loss of ubiquinone biosynthesis.
up seq anno comments: In COQ10D1; unknown pathological significance.
up seq anno comments: In MSA1; associated with disease susceptibility.
up seq anno comments: In MSA1; associated with disease susceptibility; decreased ubiquinone biosynthesis.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: Mitochondrial intermembrane
up seq anno comments: Mitochondrial matrix
up seq anno comments: Mitochondrion
up seq anno feature ids: PRO_0000228623
up seq anno feature ids: VAR_025701
up seq anno feature ids: VAR_068161
up seq anno feature ids: VAR_068162
up seq anno feature ids: VAR_068163
up seq anno feature ids: VAR_070237
up seq anno feature ids: VAR_070238
up seq anno feature ids: VAR_070239
up seq anno feature ids: VAR_070240
up seq anno feature ids: VAR_070241
up seq anno feature ids: VAR_070242
up seq anno feature ids: VAR_070243
up seq anno feature ids: VAR_070244
up seq anno feature ids: VAR_070245
up seq anno feature ids: VAR_070246
up seq anno feature ids: VAR_070247
up seq anno feature ids: VAR_070248
up seq anno feature ids: VAR_070249
up seq anno feature ids: VAR_070250
up seq anno feature ids: VAR_070251
up seq anno feature ids: VAR_076913
up seq anno feature ids: VAR_076914
up seq anno feature ids: VAR_078121
up seq anno feature ids: VSP_017677
up seq anno feature ids: VSP_017678
up seq anno feature ids: VSP_061606
up seq anno feature ids: VSP_061607
up seq anno feature ids: VSP_061608

9606:ATP5PB
gene id: 9606:ATP5PB
uniprot id: P24539
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Transit Peptide
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Transit Peptide
up seq anno comments: ATP synthase F(0) complex subunit B1, mitochondrial
up seq anno comments: Mitochondrion
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-succinyllysine
up seq anno feature ids: PRO_0000002513
up seq anno feature ids: VAR_013176
up seq anno feature ids: VAR_033534

9606:LURAP1L
gene id: 9606:LURAP1L
uniprot id: Q8IV03
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Leucine rich adaptor protein 1-like
up seq anno comments: N-acetylmethionine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000089740
up seq anno feature ids: VAR_028154
up seq anno feature ids: VAR_028155
up seq anno feature ids: VAR_085725

9606:SGMS1
gene id: 9606:SGMS1
uniprot id: Q86VZ5
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Completely abolishes enzyme activity. No change in subcellular location.
up seq anno comments: Cytoplasmic
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Phosphatidylcholine:ceramide cholinephosphotransferase 1
up seq anno comments: Phosphoserine
up seq anno comments: SAM
up seq anno feature ids: PRO_0000221068
up seq anno feature ids: VSP_027223
up seq anno feature ids: VSP_027224

9606:PRPF8
gene id: 9606:PRPF8
uniprot id: Q6P2Q9
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Important for branch point selection
up seq anno comments: In RP13.
up seq anno comments: In RP13; no effect on interaction with SNRNP200 and EFTUD2.
up seq anno comments: In RP13; reduces interaction with EFTUD2, but not with SNRNP200.
up seq anno comments: In RP13; reduces interaction with SNRNP200 and EFTUD2.
up seq anno comments: Involved in interaction with pre-mRNA 5' splice site
up seq anno comments: Linker
up seq anno comments: MPN
up seq anno comments: N-acetylalanine
up seq anno comments: N6,N6-dimethyllysine
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Pre-mRNA-processing-splicing factor 8
up seq anno comments: RNase H homology domain
up seq anno comments: Removed
up seq anno comments: Required for interaction with EFTUD2 and SNRNP200
up seq anno comments: Restriction endonuclease homology domain
up seq anno comments: Reverse transcriptase homology domain
up seq anno comments: Strongly reduced interaction with RNA.
up seq anno feature ids: PRO_0000097040
up seq anno feature ids: VAR_022622
up seq anno feature ids: VAR_022623
up seq anno feature ids: VAR_022624
up seq anno feature ids: VAR_022625
up seq anno feature ids: VAR_022626
up seq anno feature ids: VAR_022627
up seq anno feature ids: VAR_022628
up seq anno feature ids: VAR_022629
up seq anno feature ids: VAR_022630
up seq anno feature ids: VAR_022631
up seq anno feature ids: VAR_022632
up seq anno feature ids: VAR_022633

9606:MYO1A
gene id: 9606:MYO1A
uniprot id: B2R643
uniprot id: Q9UBC5
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Actin-binding
up seq anno comments: Benign variant; originally reported as possible disease-causing mutation in a patient with hearing loss.
up seq anno comments: Found in a patient with hearing loss; unknown pathological significance.
up seq anno comments: IQ 1
up seq anno comments: IQ 2
up seq anno comments: IQ 3
up seq anno comments: Myosin motor
up seq anno comments: TH1
up seq anno comments: Unconventional myosin-Ia
up seq anno feature ids: PRO_0000123438
up seq anno feature ids: VAR_015945
up seq anno feature ids: VAR_015946
up seq anno feature ids: VAR_015947
up seq anno feature ids: VAR_015948
up seq anno feature ids: VAR_015949
up seq anno feature ids: VAR_015950
up seq anno feature ids: VAR_015951
up seq anno feature ids: VAR_020320
up seq anno feature ids: VAR_050207
up seq anno feature ids: VAR_050208
up seq anno feature ids: VAR_050209

9606:KLHL20
gene id: 9606:KLHL20
uniprot id: Q9Y2M5
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Mutagenesis Site
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: BACK
up seq anno comments: BTB
up seq anno comments: In KLHL20m6; abolishes interaction with CUL3; when associated with A-109; A-111; A-113; A-146 and A-148.
up seq anno comments: In KLHL20m6; abolishes interaction with CUL3; when associated with A-109; A-111; A-113; A-146 and A-150.
up seq anno comments: In KLHL20m6; abolishes interaction with CUL3; when associated with A-109; A-111; A-113; A-148 and A-150.
up seq anno comments: In KLHL20m6; abolishes interaction with CUL3; when associated with A-109; A-111; A-146; A-148 and A-150.
up seq anno comments: In KLHL20m6; abolishes interaction with CUL3; when associated with A-109; A-113; A-146; A-148 and A-150.
up seq anno comments: In KLHL20m6; abolishes interaction with CUL3; when associated with A-111; A-113; A-146; A-148 and A-150.
up seq anno comments: In isoform 2.
up seq anno comments: Kelch 1
up seq anno comments: Kelch 2
up seq anno comments: Kelch 3
up seq anno comments: Kelch 4
up seq anno comments: Kelch 5
up seq anno comments: Kelch 6
up seq anno comments: Kelch-like protein 20
up seq anno feature ids: PRO_0000119123
up seq anno feature ids: VSP_057026
up seq anno feature ids: VSP_057027

9606:PARVG
gene id: 9606:PARVG
uniprot id: Q9HBI0
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Calponin-homology (CH) 1
up seq anno comments: Calponin-homology (CH) 2
up seq anno comments: Disordered
up seq anno comments: Gamma-parvin
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4 and isoform 5.
up seq anno comments: In isoform 4.
up seq anno comments: N-acetylmethionine
up seq anno feature ids: PRO_0000121585
up seq anno feature ids: VSP_004540
up seq anno feature ids: VSP_004541
up seq anno feature ids: VSP_012953
up seq anno feature ids: VSP_012954
up seq anno feature ids: VSP_045145
up seq anno feature ids: VSP_045146
up seq anno feature ids: VSP_045147

9606:RAB20
gene id: 9606:RAB20
uniprot id: Q9NX57
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Lipid Binding
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: Effector region
up seq anno comments: Ras-related protein Rab-20
up seq anno comments: S-geranylgeranyl cysteine
up seq anno feature ids: PRO_0000121202
up seq anno feature ids: VAR_017158

9606:CEBPG
gene id: 9606:CEBPG
uniprot id: P53567
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic motif
up seq anno comments: CCAAT/enhancer-binding protein gamma
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Leucine-zipper
up seq anno comments: bZIP
up seq anno feature ids: PRO_0000076628

9606:ZBTB24
gene id: 9606:ZBTB24
uniprot id: O43167
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: A.T hook
up seq anno comments: BTB
up seq anno comments: Basic and acidic residues
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: Disordered
up seq anno comments: In ICF2.
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Zinc finger and BTB domain-containing protein 24
up seq anno feature ids: PRO_0000047734
up seq anno feature ids: VAR_057458
up seq anno feature ids: VAR_065846
up seq anno feature ids: VSP_016221
up seq anno feature ids: VSP_016222

9606:BMP3
gene id: 9606:BMP3
uniprot id: P12645
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Bone morphogenetic protein 3
up seq anno comments: Disordered
up seq anno comments: Interchain
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000033836
up seq anno feature ids: PRO_0000033837
up seq anno feature ids: VAR_020063
up seq anno feature ids: VAR_047418
up seq anno feature ids: VAR_047419
up seq anno feature ids: VAR_047420
up seq anno feature ids: VAR_047421

9606:ACER1
gene id: 9606:ACER1
uniprot id: Q8TDN7
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Site
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Alkaline ceramidase 1
up seq anno comments: Cytoplasmic
up seq anno comments: Helical
up seq anno comments: Lumenal
up seq anno feature ids: PRO_0000247745

9606:ABHD16B
gene id: 9606:ABHD16B
uniprot id: Q9H3Z7
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Variant
up seq anno comments: AB hydrolase-1
up seq anno comments: Charge relay system
up seq anno comments: Protein ABHD16B
up seq anno feature ids: PRO_0000079463
up seq anno feature ids: VAR_050920

9606:OPCML
gene id: 9606:OPCML
uniprot id: A8K0Y0
uniprot id: B2CZX3
uniprot id: B7ZLQ0
uniprot id: Q14982
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Lipid Binding
up seq anno labels: Propeptide
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: GPI-anchor amidated asparagine
up seq anno comments: Ig-like
up seq anno comments: Ig-like C2-type 1
up seq anno comments: Ig-like C2-type 2
up seq anno comments: Ig-like C2-type 3
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In ovarian cancer; somatic mutation.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Opioid-binding protein/cell adhesion molecule
up seq anno comments: Removed in mature form
up seq anno feature ids: PRO_0000015118
up seq anno feature ids: PRO_0000015119
up seq anno feature ids: PRO_5002866684
up seq anno feature ids: PRO_5014297567
up seq anno feature ids: VAR_055421
up seq anno feature ids: VSP_043440
up seq anno feature ids: VSP_047730
up seq anno feature ids: VSP_054155

9606:KLHL32
gene id: 9606:KLHL32
uniprot id: Q6IQ08
uniprot id: Q96NJ5
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: BTB
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: Kelch 1
up seq anno comments: Kelch 2
up seq anno comments: Kelch 3
up seq anno comments: Kelch 4
up seq anno comments: Kelch 5
up seq anno comments: Kelch 6
up seq anno comments: Kelch-like protein 32
up seq anno feature ids: PRO_0000119083
up seq anno feature ids: VAR_028279
up seq anno feature ids: VAR_028280
up seq anno feature ids: VAR_050053
up seq anno feature ids: VSP_054888
up seq anno feature ids: VSP_054889

9606:FAAP100
gene id: 9606:FAAP100
uniprot id: A4ZI32
uniprot id: Q0VG06
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Fanconi anemia core complex-associated protein 100
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000289130
up seq anno feature ids: VAR_032582
up seq anno feature ids: VAR_032583
up seq anno feature ids: VSP_025922
up seq anno feature ids: VSP_025923
up seq anno feature ids: VSP_038262

9606:ARHGAP21
gene id: 9606:ARHGAP21
uniprot id: Q5T5U3
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Altered interaction with ARF1 and loss of association to membranes.
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
up seq anno comments: In isoform 3.
up seq anno comments: Interaction with ARF1 and ARF6
up seq anno comments: Interaction with CTNNA1
up seq anno comments: Loss of GTPase activity and loss of function.
up seq anno comments: Omega-N-methylarginine
up seq anno comments: PDZ
up seq anno comments: PH
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: Rho GTPase-activating protein 21
up seq anno comments: Rho-GAP
up seq anno feature ids: PRO_0000305245
up seq anno feature ids: VAR_035187
up seq anno feature ids: VAR_035188
up seq anno feature ids: VAR_035189
up seq anno feature ids: VAR_035190
up seq anno feature ids: VAR_035191
up seq anno feature ids: VAR_035192
up seq anno feature ids: VSP_028298
up seq anno feature ids: VSP_028300
up seq anno feature ids: VSP_028301

9606:SLC25A25
gene id: 9606:SLC25A25
uniprot id: Q6KCM7
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: C-terminal transmembrane transporter domain
up seq anno comments: EF-hand 1
up seq anno comments: EF-hand 2
up seq anno comments: EF-hand 3
up seq anno comments: Found in patients with recurrent kidney stones formation; unknown pathological significance; no effect on protein abundance; no effect on stability; decreased adenyl nucleotide antiporter activity; no effect on transporter activity regulation by calcium.
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3 and isoform 5.
up seq anno comments: In isoform 4 and isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: Linker region
up seq anno comments: Mitochondrial adenyl nucleotide antiporter SLC25A25
up seq anno comments: Mitochondrial intermembrane
up seq anno comments: Mitochondrial matrix
up seq anno comments: Regulatory N-terminal domain
up seq anno comments: Solcar 1
up seq anno comments: Solcar 2
up seq anno comments: Solcar 3
up seq anno feature ids: PRO_0000317602
up seq anno feature ids: VAR_087883
up seq anno feature ids: VSP_031067
up seq anno feature ids: VSP_031068
up seq anno feature ids: VSP_031069
up seq anno feature ids: VSP_031070

9606:SYCP3
gene id: 9606:SYCP3
uniprot id: Q8IZU3
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno comments: Abolishes fiber formation.
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Impairs DNA binding. Abolishes DNA binding; when associated with 52-A--A-57.
up seq anno comments: Impairs DNA binding. Abolishes DNA binding; when associated with 88-A--A-91.
up seq anno comments: Important for oligomerization and fiber formation
up seq anno comments: Interaction with DNA
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Synaptonemal complex protein 3
up seq anno feature ids: PRO_0000229024

9606:SYT10
gene id: 9606:SYT10
uniprot id: Q6XYQ8
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: C2 1
up seq anno comments: C2 2
up seq anno comments: Cysteine motif
up seq anno comments: Cytoplasmic
up seq anno comments: Helical
up seq anno comments: Phosphothreonine
up seq anno comments: Synaptotagmin-10
up seq anno comments: Vesicular
up seq anno feature ids: PRO_0000183965
up seq anno feature ids: VAR_034529
up seq anno feature ids: VAR_034530
up seq anno feature ids: VAR_034531
up seq anno feature ids: VAR_059826

9606:GAS2L1
gene id: 9606:GAS2L1
uniprot id: A0A5E8
uniprot id: Q99501
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Calponin-homology (CH)
up seq anno comments: Disordered
up seq anno comments: GAR
up seq anno comments: GAS2-like protein 1
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Loss of microtubule-end localization and microtubule plus-end tracking. Decreases MAPRE1 binding.
up seq anno comments: N-acetylalanine
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno feature ids: PRO_0000190442
up seq anno feature ids: VAR_059974
up seq anno feature ids: VSP_015493
up seq anno feature ids: VSP_015494
up seq anno feature ids: VSP_015495
up seq anno feature ids: VSP_055754

9606:BBS10
gene id: 9606:BBS10
uniprot id: Q8TAM1
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Bardet-Biedl syndrome 10 protein
up seq anno comments: Found in a patient with Bardet-Biedl syndrome compound heterozygote for mutations in BBS1; rare variant; unknown pathological significance.
up seq anno comments: Found in a patient with Bardet-Biedl syndrome homozygous for a mutation in BBS2; unknown pathological significance.
up seq anno comments: Greatly decreases all interactions with BBS7, BBS9 and BBS12 indicating that this residue may be required for overall protein conformation rather than required for ATP binding and substrate folding.
up seq anno comments: In BBS10.
up seq anno comments: In BBS10; associated with T-188.
up seq anno comments: In BBS10; associated with V-636.
up seq anno comments: In BBS10; has moderately reduced ability to interact with BBS7 and BBS9.
up seq anno comments: In BBS10; has moderately reduced ability to interact with BBS7 and BBS9; severely reduces the interaction with BBS12; 15% of wild-type.
up seq anno comments: In BBS10; has moderately reduced ability to interact with BBS7 and BBS9; severely reduces the interaction with BBS12; 19% of wild-type.
up seq anno comments: In BBS10; has moderately reduced ability to interact with BBS7 and BBS9; severely reduces the interaction with BBS12; 8% of wild-type.
up seq anno comments: In BBS10; unknown pathological significance.
up seq anno feature ids: PRO_0000235272
up seq anno feature ids: VAR_026391
up seq anno feature ids: VAR_026392
up seq anno feature ids: VAR_026393
up seq anno feature ids: VAR_026394
up seq anno feature ids: VAR_026395
up seq anno feature ids: VAR_026396
up seq anno feature ids: VAR_026397
up seq anno feature ids: VAR_026398
up seq anno feature ids: VAR_026399
up seq anno feature ids: VAR_026400
up seq anno feature ids: VAR_026401
up seq anno feature ids: VAR_026402
up seq anno feature ids: VAR_026403
up seq anno feature ids: VAR_026404
up seq anno feature ids: VAR_026405
up seq anno feature ids: VAR_026406
up seq anno feature ids: VAR_026407
up seq anno feature ids: VAR_026408
up seq anno feature ids: VAR_052272
up seq anno feature ids: VAR_066252
up seq anno feature ids: VAR_066253
up seq anno feature ids: VAR_066254
up seq anno feature ids: VAR_066255
up seq anno feature ids: VAR_066256
up seq anno feature ids: VAR_066257
up seq anno feature ids: VAR_066258
up seq anno feature ids: VAR_066259
up seq anno feature ids: VAR_066260
up seq anno feature ids: VAR_066261
up seq anno feature ids: VAR_075722
up seq anno feature ids: VAR_079367
up seq anno feature ids: VAR_079368

9606:CD58
gene id: 9606:CD58
uniprot id: P19256
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Ig-like
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Lymphocyte function-associated antigen 3
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No effect on CD2-binding.
up seq anno feature ids: PRO_0000014814
up seq anno feature ids: VAR_049885
up seq anno feature ids: VSP_002522
up seq anno feature ids: VSP_002523
up seq anno feature ids: VSP_038693

9606:RPUSD4
gene id: 9606:RPUSD4
uniprot id: B4DUN4
uniprot id: Q96CM3
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: In isoform 2.
up seq anno comments: Mitochondrion
up seq anno comments: Pseudouridine synthase RsuA/RluA-like
up seq anno comments: Pseudouridylate synthase RPUSD4, mitochondrial
up seq anno feature ids: PRO_0000300825
up seq anno feature ids: VAR_034887
up seq anno feature ids: VAR_034888
up seq anno feature ids: VAR_034889
up seq anno feature ids: VAR_034890
up seq anno feature ids: VSP_047375

9606:C2orf73
gene id: 9606:C2orf73
uniprot id: Q8N5S3
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno comments: Uncharacterized protein C2orf73
up seq anno feature ids: PRO_0000332213
up seq anno feature ids: VAR_042973
up seq anno feature ids: VAR_042974
up seq anno feature ids: VAR_061571
up seq anno feature ids: VSP_033353

9606:OR5B21
gene id: 9606:OR5B21
uniprot id: A6NL26
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 5B21
up seq anno feature ids: PRO_0000310474
up seq anno feature ids: VAR_062041

9606:PTPRJ
gene id: 9606:PTPRJ
uniprot id: Q12913
uniprot id: Q9NPR5
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: 80% decrease in interaction with MAPK1 and MAPK3.
up seq anno comments: Catalytically inactive and substrate trapping with higher affinity for substrate.
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Fibronectin type-III
up seq anno comments: Fibronectin type-III 1
up seq anno comments: Fibronectin type-III 2
up seq anno comments: Fibronectin type-III 3
up seq anno comments: Fibronectin type-III 4
up seq anno comments: Fibronectin type-III 5
up seq anno comments: Fibronectin type-III 6
up seq anno comments: Fibronectin type-III 7
up seq anno comments: Fibronectin type-III 8
up seq anno comments: Fibronectin type-III 9
up seq anno comments: Helical
up seq anno comments: In a colon cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphocysteine intermediate
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Receptor-type tyrosine-protein phosphatase eta
up seq anno comments: Substrate trapping with much higher affinity for substrate.
up seq anno comments: Tyrosine-protein phosphatase
up seq anno feature ids: PRO_0000025444
up seq anno feature ids: PRO_5004335661
up seq anno feature ids: VAR_015905
up seq anno feature ids: VAR_015906
up seq anno feature ids: VAR_024582
up seq anno feature ids: VAR_038414
up seq anno feature ids: VAR_038415

9606:TRIM6
gene id: 9606:TRIM6
uniprot id: Q9C030
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Domain Extent
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: Abolishes binding of polyubiquitin to IKBKE.
up seq anno comments: B box-type
up seq anno comments: B30.2/SPRY
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: RING-type
up seq anno comments: Reduced higher order self-association and association with TRIM5.
up seq anno comments: Tripartite motif-containing protein 6
up seq anno feature ids: PRO_0000056202
up seq anno feature ids: VAR_061823
up seq anno feature ids: VSP_012087
up seq anno feature ids: VSP_046924

9606:SBF2
gene id: 9606:SBF2
uniprot id: A0A6Q8PH87
uniprot id: Q86WG5
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: GRAM
up seq anno comments: In isoform 3.
up seq anno comments: Myotubularin phosphatase
up seq anno comments: Myotubularin-related protein 13
up seq anno comments: PH
up seq anno comments: Phosphoserine
up seq anno comments: Required for homodimerization and interaction with MTMR2
up seq anno comments: UDENN
up seq anno comments: cDENN
up seq anno comments: dDENN
up seq anno comments: uDENN
up seq anno feature ids: PRO_0000094945
up seq anno feature ids: VAR_051766
up seq anno feature ids: VAR_051767
up seq anno feature ids: VAR_051768
up seq anno feature ids: VSP_017157
up seq anno feature ids: VSP_017158

9606:GINM1
gene id: 9606:GINM1
uniprot id: Q9NU53
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Glycoprotein integral membrane protein 1
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000019543

9606:CIDEA
gene id: 9606:CIDEA
uniprot id: O60543
uniprot id: Q8N5P9
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Amphipathic helix
up seq anno comments: CIDE-N
up seq anno comments: Disordered
up seq anno comments: Lipid transferase CIDEA
up seq anno feature ids: PRO_0000144718
up seq anno feature ids: VAR_048738

9606:ABAT
gene id: 9606:ABAT
uniprot id: P80404
uniprot id: X5D8S1
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Transit Peptide
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Transit Peptide
up seq anno comments: 4-aminobutyrate aminotransferase, mitochondrial
up seq anno comments: In GABATD; 25% reduction in 4-aminobutyrate aminotransferase activity.
up seq anno comments: Interchain
up seq anno comments: Loss of 4-aminobutyrate aminotransferase activity.
up seq anno comments: Mitochondrion
up seq anno comments: N6-(pyridoxal phosphate)lysine
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-succinyllysine
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: in other chain
up seq anno feature ids: PRO_0000001249
up seq anno feature ids: VAR_008883
up seq anno feature ids: VAR_018979

9606:DENND6B
gene id: 9606:DENND6B
uniprot id: Q8NEG7
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno comments: Protein DENND6B
up seq anno comments: cDENN
up seq anno comments: dDENN
up seq anno comments: uDENN
up seq anno feature ids: PRO_0000264990

9606:WIZ
gene id: 9606:WIZ
uniprot id: A0A2R8YFV2
uniprot id: M0QXA7
uniprot id: O95785
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: C2H2-type
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Interaction with CTBP1 and CTBP2 1
up seq anno comments: Interaction with CTBP1 and CTBP2 2
up seq anno comments: N6,N6,N6-trimethyllysine; by EHMT2; alternate
up seq anno comments: N6,N6-dimethyllysine; by EHMT2; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Protein Wiz
up seq anno feature ids: PRO_0000286054
up seq anno feature ids: VSP_024951
up seq anno feature ids: VSP_024952
up seq anno feature ids: VSP_054509
up seq anno feature ids: VSP_054510
up seq anno feature ids: VSP_054511
up seq anno feature ids: VSP_057207
up seq anno feature ids: VSP_057208

9606:PLEKHA5
gene id: 9606:PLEKHA5
uniprot id: A0A9L9PX43
uniprot id: Q9HAU0
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2 and isoform 6.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4, isoform 6 and isoform 8.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: In isoform 7.
up seq anno comments: In isoform 8.
up seq anno comments: N-acetylalanine
up seq anno comments: PH
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Pleckstrin homology domain-containing family A member 5
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno comments: WW
up seq anno comments: WW 1
up seq anno comments: WW 2
up seq anno feature ids: PRO_0000053883
up seq anno feature ids: VSP_009775
up seq anno feature ids: VSP_009776
up seq anno feature ids: VSP_009777
up seq anno feature ids: VSP_009778
up seq anno feature ids: VSP_014595
up seq anno feature ids: VSP_044678
up seq anno feature ids: VSP_044679
up seq anno feature ids: VSP_046861
up seq anno feature ids: VSP_047514
up seq anno feature ids: VSP_047515

9606:MGAM
gene id: 9606:MGAM
uniprot id: O43451
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: Decreases alpha-1,4-glucosidase activity toward long oligomaltose substrates having four to seven D-glucose residues.
up seq anno comments: Decreases alpha-1,4-glucosidase activity toward maltose.
up seq anno comments: Disordered
up seq anno comments: Glucoamylase
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In isoform 1.
up seq anno comments: Loss of alpha-1,4-glucosidase activity toward maltose.
up seq anno comments: Lumenal
up seq anno comments: Maltase
up seq anno comments: Maltase-glucoamylase
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Nucleophile
up seq anno comments: P-type 1
up seq anno comments: P-type 2
up seq anno comments: P-type 3
up seq anno comments: Polar residues
up seq anno comments: Proton donor
up seq anno comments: Sulfotyrosine
up seq anno feature ids: PRO_0000185363
up seq anno feature ids: VAR_047350
up seq anno feature ids: VAR_047351
up seq anno feature ids: VAR_047352
up seq anno feature ids: VAR_047353
up seq anno feature ids: VSP_061364

9606:OR5AK2
gene id: 9606:OR5AK2
uniprot id: A0A126GW20
uniprot id: Q8NH90
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 5AK2
up seq anno feature ids: PRO_0000150575
up seq anno feature ids: VAR_034215
up seq anno feature ids: VAR_034216
up seq anno feature ids: VAR_060007

9606:XG
gene id: 9606:XG
uniprot id: B4E289
uniprot id: P55808
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Glycoprotein Xg
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000022693
up seq anno feature ids: PRO_5002803766
up seq anno feature ids: VAR_054063
up seq anno feature ids: VSP_037319
up seq anno feature ids: VSP_037320

9606:SOX1
gene id: 9606:SOX1
uniprot id: O00570
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno comments: 9aaTAD
up seq anno comments: Basic residues
up seq anno comments: Disordered
up seq anno comments: HMG box
up seq anno comments: Transcription factor SOX-1
up seq anno feature ids: PRO_0000048712

9606:COQ6
gene id: 9606:COQ6
uniprot id: A0A0D9SFJ1
uniprot id: Q9Y2Z9
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transit Peptide
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transit Peptide
up seq anno comments: FAD-binding
up seq anno comments: In COQ10D6.
up seq anno comments: In COQ10D6; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Mitochondrion
up seq anno comments: Probable disease-associated variant found in patients with Schwannomatosis; loss of function.
up seq anno comments: Ubiquinone biosynthesis monooxygenase COQ6, mitochondrial
up seq anno feature ids: PRO_0000207583
up seq anno feature ids: VAR_014953
up seq anno feature ids: VAR_033813
up seq anno feature ids: VAR_033814
up seq anno feature ids: VAR_052691
up seq anno feature ids: VAR_068216
up seq anno feature ids: VAR_068217
up seq anno feature ids: VAR_068218
up seq anno feature ids: VAR_075225
up seq anno feature ids: VAR_078122
up seq anno feature ids: VSP_044060
up seq anno feature ids: VSP_044061
up seq anno feature ids: VSP_044062

9606:PBX4
gene id: 9606:PBX4
uniprot id: Q9BYU1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: Homeobox; TALE-type
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: PBC
up seq anno comments: PBC-A
up seq anno comments: PBC-B
up seq anno comments: Polar residues
up seq anno comments: Pre-B-cell leukemia transcription factor 4
up seq anno feature ids: PRO_0000049241
up seq anno feature ids: VAR_036439
up seq anno feature ids: VAR_059355
up seq anno feature ids: VAR_059356

9606:CASP5
gene id: 9606:CASP5
uniprot id: P51878
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Mutagenesis Site
up seq anno labels: Propeptide
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Abolishes protease activity.
up seq anno comments: CARD
up seq anno comments: Caspase-5 subunit p10
up seq anno comments: Caspase-5 subunit p20
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno feature ids: PRO_0000004604
up seq anno feature ids: PRO_0000004605
up seq anno feature ids: PRO_0000004606
up seq anno feature ids: PRO_0000004607
up seq anno feature ids: VAR_024403
up seq anno feature ids: VAR_024404
up seq anno feature ids: VAR_024405
up seq anno feature ids: VAR_047216
up seq anno feature ids: VAR_047217
up seq anno feature ids: VAR_047218
up seq anno feature ids: VAR_047219
up seq anno feature ids: VAR_047220
up seq anno feature ids: VAR_054480
up seq anno feature ids: VAR_054481
up seq anno feature ids: VAR_054482
up seq anno feature ids: VSP_038990
up seq anno feature ids: VSP_038991
up seq anno feature ids: VSP_038992
up seq anno feature ids: VSP_038993
up seq anno feature ids: VSP_038994
up seq anno feature ids: VSP_038995

9606:TAF4
gene id: 9606:TAF4
uniprot id: O00268
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Asymmetric dimethylarginine
up seq anno comments: Disordered
up seq anno comments: Minimal region required to interact with TAF12
up seq anno comments: N6,N6-dimethyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: TAFH
up seq anno comments: Transcription initiation factor TFIID subunit 4
up seq anno feature ids: PRO_0000118869
up seq anno feature ids: VAR_052258

9606:TMSB4X
gene id: 9606:TMSB4X
uniprot id: A2VCK8
uniprot id: P62328
uniprot id: Q0P5T0
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Peptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Peptide
up seq anno labels: Region
up seq anno comments: Binds actin 2.5-fold less than wild-type; little change in inhibition of actin polymerization.
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: Hemoregulatory peptide AcSDKP
up seq anno comments: N-acetylserine
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno comments: Thymosin beta-4
up seq anno comments: Very weak actin binding; no inhibition of actin polymerization.
up seq anno feature ids: PRO_0000034295
up seq anno feature ids: PRO_0000045920

9606:FAM3B
gene id: 9606:FAM3B
uniprot id: P58499
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: GG-type lectin
up seq anno comments: In isoform A.
up seq anno comments: In isoform C.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Protein FAM3B
up seq anno feature ids: PRO_0000008750
up seq anno feature ids: VAR_021953
up seq anno feature ids: VSP_001504
up seq anno feature ids: VSP_001505

9606:ATP2B1
gene id: 9606:ATP2B1
uniprot id: P20020
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: 4-aspartylphosphate intermediate
up seq anno comments: Basic and acidic residues
up seq anno comments: Calmodulin-binding subdomain A
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Found in a patient with developmental delay; unknown pathological significance; no effect on calcium ion export across plasma membrane.
up seq anno comments: Helical
up seq anno comments: In MRD66.
up seq anno comments: In MRD66; decreased calcium ion export across plasma membrane.
up seq anno comments: In MRD66; decreased calcium ion export across plasma membrane; decreased localization to plasma membrane.
up seq anno comments: In isoform A and isoform E.
up seq anno comments: In isoform A.
up seq anno comments: In isoform C.
up seq anno comments: In isoform D.
up seq anno comments: In isoform E.
up seq anno comments: In isoform K.
up seq anno comments: N-acetylglycine
up seq anno comments: No effect on calcium ion export across plasma membrane.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PKA
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by PKC
up seq anno comments: Plasma membrane calcium-transporting ATPase 1
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno comments: Required for basolateral membrane targeting
up seq anno feature ids: PRO_0000046209
up seq anno feature ids: VAR_000698
up seq anno feature ids: VAR_087432
up seq anno feature ids: VAR_087433
up seq anno feature ids: VAR_087434
up seq anno feature ids: VAR_087435
up seq anno feature ids: VAR_087436
up seq anno feature ids: VAR_087437
up seq anno feature ids: VAR_087438
up seq anno feature ids: VAR_087439
up seq anno feature ids: VAR_087440
up seq anno feature ids: VAR_087441
up seq anno feature ids: VAR_087442
up seq anno feature ids: VAR_087443
up seq anno feature ids: VAR_087444
up seq anno feature ids: VAR_087445
up seq anno feature ids: VSP_059771
up seq anno feature ids: VSP_059772
up seq anno feature ids: VSP_059773
up seq anno feature ids: VSP_059774
up seq anno feature ids: VSP_059775
up seq anno feature ids: VSP_059776

9606:KLRF2
gene id: 9606:KLRF2
uniprot id: D3W0D1
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: C-type lectin
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: Killer cell lectin-like receptor subfamily F member 2
up seq anno comments: Loss of function.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000404560

9606:FANCC
gene id: 9606:FANCC
uniprot id: A0A024R9N2
uniprot id: A0A087WW44
uniprot id: Q00597
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: Fanconi anemia group C protein
up seq anno comments: In FANCC.
up seq anno comments: In FANCC; loss of activity; loss of CDK1-binding and IFNG-induced STAT1-binding; abnormal EIF2AK2 activation and augmented cell death.
up seq anno comments: No effect on protective function from mitomycin C-genotoxicity.
up seq anno comments: No effect on protective function from mitomycin C-genotoxicity. Loss of IFNG-induced STAT1-binding.
up seq anno comments: No effect on protective function from mitomycin C-genotoxicity. No effect on IFNG-induced STAT1-binding.
up seq anno comments: No loss of protection from cross-linking agent-induced toxicity. No effect on IFNG-induced STAT1-binding.
up seq anno feature ids: PRO_0000087184
up seq anno feature ids: VAR_005225
up seq anno feature ids: VAR_005226
up seq anno feature ids: VAR_005227
up seq anno feature ids: VAR_005228
up seq anno feature ids: VAR_005229
up seq anno feature ids: VAR_005230
up seq anno feature ids: VAR_005231
up seq anno feature ids: VAR_005232
up seq anno feature ids: VAR_005233
up seq anno feature ids: VAR_016339

9606:ZNG1A
gene id: 9606:ZNG1A
uniprot id: A0A087X140
uniprot id: Q9BRT8
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: CXCC motif
up seq anno comments: CobW C-terminal
up seq anno comments: CobW/HypB/UreG nucleotide-binding
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Zinc-regulated GTPase metalloprotein activator 1A
up seq anno comments: psi-PxLVp motif
up seq anno feature ids: PRO_0000245523
up seq anno feature ids: VAR_026979
up seq anno feature ids: VSP_019731
up seq anno feature ids: VSP_019732
up seq anno feature ids: VSP_019733
up seq anno feature ids: VSP_019734

9606:NAB1
gene id: 9606:NAB1
uniprot id: A8K8T1
uniprot id: B4DKG1
uniprot id: B8ZZS2
uniprot id: Q13506
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: In isoform Short.
up seq anno comments: NAB co-repressor
up seq anno comments: NCD1
up seq anno comments: NCD2
up seq anno comments: NGFI-A-binding protein 1
up seq anno comments: Nab N-terminal
up seq anno comments: Nab1 C-terminal
up seq anno comments: Necessary for nuclear localization
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000077038
up seq anno feature ids: VSP_003384

9606:TCF24
gene id: 9606:TCF24
uniprot id: Q7RTU0
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno comments: Disordered
up seq anno comments: Transcription factor 24
up seq anno comments: bHLH
up seq anno feature ids: PRO_0000405315

9606:CCDC92
gene id: 9606:CCDC92
uniprot id: Q53HC0
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Coiled-coil domain-containing protein 92
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000274500
up seq anno feature ids: VAR_030301
up seq anno feature ids: VAR_030302
up seq anno feature ids: VAR_050765
up seq anno feature ids: VSP_056906

9606:TNNT3
gene id: 9606:TNNT3
uniprot id: A0A9L9PY19
uniprot id: H9KVA2
uniprot id: P45378
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In DA2B2.
up seq anno comments: In isoform 2, isoform 4 and isoform 7.
up seq anno comments: In isoform 3, isoform 4 and isoform 7.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: N-acetylserine
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno comments: Troponin T, fast skeletal muscle
up seq anno feature ids: PRO_0000186178
up seq anno feature ids: VAR_026453
up seq anno feature ids: VAR_082280
up seq anno feature ids: VSP_007914
up seq anno feature ids: VSP_007915
up seq anno feature ids: VSP_007916
up seq anno feature ids: VSP_009121
up seq anno feature ids: VSP_034964

9606:KAT8
gene id: 9606:KAT8
uniprot id: Q9H7Z6
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Abolishes histone acetyltransferase activity.
up seq anno comments: C2HC MYST-type
up seq anno comments: Disordered
up seq anno comments: Found in a severe neurodevelopmental disorder similar to Li-Ghorbani-Weisz-Hubshman syndrome with apparently autosomal recessive inheritance; unknown pathological significance; loss of protein expression.
up seq anno comments: Found in a severe neurodevelopmental disorder similar to Li-Ghorbani-Weisz-Hubshman syndrome with apparently autosomal recessive inheritance; unknown pathological significance; no effect on protein expression; no effect on localization to the nucleus; no effect on MSL complex assembly; decreased histone acetyltransferase activity.
up seq anno comments: Histone acetyltransferase KAT8
up seq anno comments: In LIGOWS; no effect on protein expression; no effect on MSL complex assembly; decreased histone acetyltransferase activity.
up seq anno comments: In LIGOWS; unknown pathological significance; no effect on protein expression; no effect on MSL complex assembly; decreased histone acetyltransferase activity.
up seq anno comments: In isoform 2.
up seq anno comments: MYST-type HAT
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; by autocatalysis
up seq anno comments: Phosphoserine
up seq anno comments: Proton donor/acceptor
up seq anno comments: Removed
up seq anno comments: Strongly reduces histone acetyltransferase activity.
up seq anno comments: Sufficient for interaction with KANSL1
up seq anno comments: Tudor-knot
up seq anno feature ids: PRO_0000051566
up seq anno feature ids: VAR_084751
up seq anno feature ids: VAR_084752
up seq anno feature ids: VAR_084753
up seq anno feature ids: VAR_084754
up seq anno feature ids: VAR_084755
up seq anno feature ids: VAR_084756
up seq anno feature ids: VAR_084757
up seq anno feature ids: VAR_084758
up seq anno feature ids: VSP_014579

9606:HYCC2
gene id: 9606:HYCC2
uniprot id: A0A804HIT6
uniprot id: B3KUG1
uniprot id: Q8IXS8
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Hyccin 2
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000278094

9606:MAP3K8
gene id: 9606:MAP3K8
uniprot id: P41279
uniprot id: Q6FG25
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Impaired MEK phosphorylation and autophosphorylation activities. No effect on KSR2 binding.
up seq anno comments: In isoform 2.
up seq anno comments: In oncogenic form.
up seq anno comments: Loss of MEK phosphorylation activity and almost abolished autophosphorylation activity. Loss of IL1-stimulated MEK phosphorylation activity but not of IL1-stimulated autophosphorylation activity. No effect on KSR2 binding.
up seq anno comments: Loss of MEK phosphorylation activity and almost abolished autophosphorylation activity. No effect on KSR2 binding.
up seq anno comments: Mitogen-activated protein kinase kinase kinase 8
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000024350
up seq anno feature ids: VAR_006198
up seq anno feature ids: VAR_006199
up seq anno feature ids: VAR_051638
up seq anno feature ids: VSP_018843

9606:GNGT2
gene id: 9606:GNGT2
uniprot id: O14610
up seq anno parent labels: Chain
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Propeptide
up seq anno labels: Sequence Variant
up seq anno comments: Cysteine methyl ester
up seq anno comments: Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2
up seq anno comments: Removed in mature form
up seq anno comments: S-farnesyl cysteine
up seq anno feature ids: PRO_0000012645
up seq anno feature ids: PRO_0000012646
up seq anno feature ids: VAR_049271

9606:RGS22
gene id: 9606:RGS22
uniprot id: G3V112
uniprot id: Q8NE09
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Polar residues
up seq anno comments: RGS
up seq anno comments: RGS 1
up seq anno comments: RGS 2
up seq anno comments: Regulator of G-protein signaling 22
up seq anno feature ids: PRO_0000271376
up seq anno feature ids: VAR_051797
up seq anno feature ids: VAR_051798
up seq anno feature ids: VSP_022306
up seq anno feature ids: VSP_054225

9606:RNF175
gene id: 9606:RNF175
uniprot id: Q8N4F7
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno labels: Zinc Finger
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: RING finger protein 175
up seq anno comments: RING-type; atypical
up seq anno feature ids: PRO_0000245599
up seq anno feature ids: VAR_026998
up seq anno feature ids: VAR_026999
up seq anno feature ids: VAR_027000
up seq anno feature ids: VAR_027001
up seq anno feature ids: VSP_055433
up seq anno feature ids: VSP_055434
up seq anno feature ids: VSP_055435
up seq anno feature ids: VSP_055436

9606:CLMP
gene id: 9606:CLMP
uniprot id: B4E3S3
uniprot id: Q9H6B4
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: CXADR-like membrane protein
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Ig-like
up seq anno comments: Ig-like C2-type 1
up seq anno comments: Ig-like C2-type 2
up seq anno comments: In CSBS; affects subcellular location; the mutant protein is localized in the cytoplasm.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000293026
up seq anno feature ids: PRO_5002801155
up seq anno feature ids: VAR_049824
up seq anno feature ids: VAR_069713

9606:RUSC1
gene id: 9606:RUSC1
uniprot id: A0A8Q3SIT1
uniprot id: B4DQB8
uniprot id: Q9BVN2
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: AP-4 complex accessory subunit RUSC1
up seq anno comments: Abrogates nuclear redistribution.
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Interaction with IKBKG
up seq anno comments: Interaction with TRAF6
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: RUN
up seq anno comments: SH3
up seq anno feature ids: PRO_0000097532
up seq anno feature ids: VAR_036803
up seq anno feature ids: VAR_051329
up seq anno feature ids: VSP_010855
up seq anno feature ids: VSP_054052
up seq anno feature ids: VSP_054053

9606:ADRB2
gene id: 9606:ADRB2
uniprot id: P07550
uniprot id: X5DQM5
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: 4-hydroxyproline
up seq anno comments: Abolishes insulin-induced tyrosine phosphorylation and insulin-induced receptor supersensitization.
up seq anno comments: Affects binding of catecholamines, and produces an uncoupling between the receptor and stimulatory G proteins.
up seq anno comments: Beta-2 adrenergic receptor
up seq anno comments: Cytoplasmic
up seq anno comments: Delayed agonist-promoted desensitization.
up seq anno comments: Disordered
up seq anno comments: Does not affect insulin-induced tyrosine phosphorylation or insulin-induced receptor supersensitization.
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: Loss of basal palmitoylation.
up seq anno comments: Loss of ligand-induced palmitoylation.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: PDZ-binding
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by BARK
up seq anno comments: Phosphoserine; by PKA
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: S-palmitoyl cysteine
up seq anno comments: Uncoupled receptor.
up seq anno feature ids: PRO_0000069130
up seq anno feature ids: VAR_003452
up seq anno feature ids: VAR_003453
up seq anno feature ids: VAR_003454

9606:SDCBP
gene id: 9606:SDCBP
uniprot id: B4DHN5
uniprot id: G5EA09
uniprot id: O00560
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transmembrane
up seq anno comments: Disruption of the cooperative binding of C-terminal peptides from FZD7 and phosphatidylinositol-4,5-bisphosphate.
up seq anno comments: Disruption of the cooperative binding of C-terminal peptides from FZD7 and phosphatidylinositol-4,5-bisphosphate. Impaired interaction with FZD7 and disruption of the cooperative binding of C-terminal peptides from FZD7 and phosphatidylinositol-4,5-bisphosphate; when associated with A-214.
up seq anno comments: Disruption of the cooperative binding of C-terminal peptides from FZD7 and phosphatidylinositol-4,5-bisphosphate. Impaired interaction with FZD7 and disruption of the cooperative binding of C-terminal peptides from FZD7 and phosphatidylinositol-4,5-bisphosphate; when associated with A-250.
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Interaction with PDCD6IP
up seq anno comments: LYPX(n)L motif 1
up seq anno comments: LYPX(n)L motif 2
up seq anno comments: LYPX(n)L motif 3
up seq anno comments: N-acetylserine
up seq anno comments: PDZ
up seq anno comments: PDZ 1
up seq anno comments: PDZ 2
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Removed
up seq anno comments: Syntenin-1
up seq anno feature ids: PRO_0000184001
up seq anno feature ids: VAR_013160
up seq anno feature ids: VSP_038374
up seq anno feature ids: VSP_038375

9606:PAM
gene id: 9606:PAM
uniprot id: A0A804HIQ0
uniprot id: O43832
uniprot id: P19021
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Copper type II ascorbate-dependent monooxygenase C-terminal
up seq anno comments: Copper type II ascorbate-dependent monooxygenase N-terminal
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: Interaction with RASSF9
up seq anno comments: Intragranular
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: NHL
up seq anno comments: NHL 1
up seq anno comments: NHL 2
up seq anno comments: NHL 3
up seq anno comments: NHL 4
up seq anno comments: NHL 5
up seq anno comments: Peptidyl-alpha-hydroxyglycine alpha-amidating lyase
up seq anno comments: Peptidyl-glycine alpha-amidating monooxygenase
up seq anno comments: Peptidylglycine alpha-hydroxylating monooxygenase
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by UHMK1; in vitro
up seq anno comments: Phosphothreonine
up seq anno comments: Sulfotyrosine
up seq anno feature ids: PRO_0000006361
up seq anno feature ids: PRO_0000006362
up seq anno feature ids: PRO_5032865847
up seq anno feature ids: VAR_055694
up seq anno feature ids: VSP_001227
up seq anno feature ids: VSP_001228
up seq anno feature ids: VSP_001229
up seq anno feature ids: VSP_038691
up seq anno feature ids: VSP_042209

9606:ZNF12
gene id: 9606:ZNF12
uniprot id: P17014
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 12
up seq anno comments: C2H2-type 13
up seq anno comments: C2H2-type 14
up seq anno comments: C2H2-type 15
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4 and isoform 5.
up seq anno comments: In isoform 4.
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 12
up seq anno feature ids: PRO_0000047335
up seq anno feature ids: VSP_040334
up seq anno feature ids: VSP_040335
up seq anno feature ids: VSP_040738
up seq anno feature ids: VSP_040739

9606:GOLGA8A
gene id: 9606:GOLGA8A
uniprot id: A7E2F4
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Golgi-targeting domain
up seq anno comments: Golgin subfamily A member 8A
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000190070
up seq anno feature ids: VAR_064650
up seq anno feature ids: VAR_064651
up seq anno feature ids: VAR_064652
up seq anno feature ids: VSP_040753

9606:CRY1
gene id: 9606:CRY1
uniprot id: A2I2P0
uniprot id: Q16526
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Site
up seq anno comments: Cryptochrome-1
up seq anno comments: Disordered
up seq anno comments: Electron transfer via tryptophanyl radical
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Interaction with TIMELESS
up seq anno comments: LIR 1
up seq anno comments: LIR 10
up seq anno comments: LIR 11
up seq anno comments: LIR 12
up seq anno comments: LIR 13
up seq anno comments: LIR 2
up seq anno comments: LIR 3
up seq anno comments: LIR 4
up seq anno comments: LIR 5
up seq anno comments: LIR 6
up seq anno comments: LIR 7
up seq anno comments: LIR 8
up seq anno comments: LIR 9
up seq anno comments: Loss of binding to KL001.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by AMPK
up seq anno comments: Phosphoserine; by MAPK
up seq anno comments: Photolyase/cryptochrome alpha/beta
up seq anno comments: Required for inhibition of CLOCK-BMAL1-mediated transcription
up seq anno feature ids: PRO_0000261140

9606:CAPG
gene id: 9606:CAPG
uniprot id: B2R9S4
uniprot id: P40121
uniprot id: V9HW69
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Gelsolin-like
up seq anno comments: Gelsolin-like 1
up seq anno comments: Gelsolin-like 2
up seq anno comments: Gelsolin-like 3
up seq anno comments: In isoform 2.
up seq anno comments: Macrophage-capping protein
up seq anno comments: N-acetylmethionine
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000218753
up seq anno feature ids: VAR_047776
up seq anno feature ids: VAR_047777
up seq anno feature ids: VAR_047778
up seq anno feature ids: VSP_045538

9606:SET
gene id: 9606:SET
uniprot id: A0A8J8YYJ1
uniprot id: Q01105
uniprot id: Q5VXV3
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Breakpoint for translocation to form SET-CAN oncogene
up seq anno comments: Dimerization
up seq anno comments: Disordered
up seq anno comments: Earmuff domain
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: In MRD58.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: N,N,N-trimethylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Protein SET
up seq anno comments: Removed
up seq anno feature ids: PRO_0000185662
up seq anno feature ids: VAR_078653
up seq anno feature ids: VAR_081147
up seq anno feature ids: VAR_081148
up seq anno feature ids: VAR_082865
up seq anno feature ids: VSP_009868
up seq anno feature ids: VSP_045175
up seq anno feature ids: VSP_046741

9606:DLG1
gene id: 9606:DLG1
uniprot id: A0A0C4DFT3
uniprot id: A0A590UJ08
uniprot id: B4DF78
uniprot id: Q12959
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Disks large homolog 1
up seq anno comments: Disordered
up seq anno comments: Guanylate kinase-like
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 3, isoform 4 and isoform 5.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: In isoform 7 and isoform 9.
up seq anno comments: In isoform 8 and isoform 9.
up seq anno comments: In isoform 9.
up seq anno comments: Interaction with SH3 domains
up seq anno comments: L27
up seq anno comments: Loss of membrane association and DLG2-binding.
up seq anno comments: PDZ
up seq anno comments: PDZ 1
up seq anno comments: PDZ 2
up seq anno comments: PDZ 3
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: Required for interaction with MARCHF2
up seq anno comments: SH3
up seq anno feature ids: PRO_0000094548
up seq anno feature ids: VAR_054334
up seq anno feature ids: VAR_054335
up seq anno feature ids: VAR_054336
up seq anno feature ids: VSP_003150
up seq anno feature ids: VSP_012862
up seq anno feature ids: VSP_012863
up seq anno feature ids: VSP_012864
up seq anno feature ids: VSP_012865
up seq anno feature ids: VSP_045896
up seq anno feature ids: VSP_045897
up seq anno feature ids: VSP_045898

9606:SMAD7
gene id: 9606:SMAD7
uniprot id: B3KYA8
uniprot id: O15105
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: 90% reduction in TGF-beta receptor binding.
up seq anno comments: Diminishes interaction with SMURF2 and reduces inhibition of TGF-beta signaling.
up seq anno comments: Diminishes interaction with SMURF2.
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
up seq anno comments: Important for interaction with SMURF2
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of acetylation, and of SMURF1-dependent degradation; when associated with A-64.
up seq anno comments: Loss of acetylation, and of SMURF1-dependent degradation; when associated with A-70.
up seq anno comments: MH1
up seq anno comments: MH2
up seq anno comments: Mothers against decapentaplegic homolog 7
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: PY-motif
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000090872
up seq anno feature ids: VSP_045197
up seq anno feature ids: VSP_047540

9606:HSPA2
gene id: 9606:HSPA2
uniprot id: P54652
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes methylation by METTL21A.
up seq anno comments: Disordered
up seq anno comments: Heat shock-related 70 kDa protein 2
up seq anno comments: N6,N6,N6-trimethyllysine; by METTL21A; in vitro
up seq anno comments: Nucleotide-binding domain (NBD)
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Substrate-binding domain (SBD)
up seq anno feature ids: PRO_0000078258
up seq anno feature ids: VAR_032706
up seq anno feature ids: VAR_032707

9606:DPH7
gene id: 9606:DPH7
uniprot id: Q9BTV6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Diphthine methyltransferase
up seq anno comments: Disordered
up seq anno comments: Phosphoserine
up seq anno comments: WD 1
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno comments: WD 7
up seq anno feature ids: PRO_0000050906
up seq anno feature ids: VAR_053437

9606:FOSL2
gene id: 9606:FOSL2
uniprot id: P15408
uniprot id: Q9H5M2
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Basic motif
up seq anno comments: Disordered
up seq anno comments: Fos-related antigen 2
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Leucine-zipper
up seq anno comments: N-acetylmethionine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: bZIP
up seq anno feature ids: PRO_0000076483
up seq anno feature ids: VSP_039127
up seq anno feature ids: VSP_039128
up seq anno feature ids: VSP_039129
up seq anno feature ids: VSP_042083

9606:EXPH5
gene id: 9606:EXPH5
uniprot id: B4E1U8
uniprot id: B4E2C3
uniprot id: Q149M6
uniprot id: Q6AI59
uniprot id: Q8NEV8
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Exophilin-5
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: RabBD
up seq anno feature ids: PRO_0000190230
up seq anno feature ids: VAR_030538
up seq anno feature ids: VAR_030539
up seq anno feature ids: VAR_030540
up seq anno feature ids: VAR_030541
up seq anno feature ids: VAR_030542
up seq anno feature ids: VAR_030543
up seq anno feature ids: VAR_030544
up seq anno feature ids: VAR_030545
up seq anno feature ids: VAR_030546
up seq anno feature ids: VAR_030547
up seq anno feature ids: VAR_030548
up seq anno feature ids: VAR_030549
up seq anno feature ids: VAR_030550
up seq anno feature ids: VAR_030551
up seq anno feature ids: VAR_030552
up seq anno feature ids: VAR_057117
up seq anno feature ids: VAR_057118
up seq anno feature ids: VAR_057119
up seq anno feature ids: VAR_057120
up seq anno feature ids: VAR_057121
up seq anno feature ids: VSP_007906

9606:PPAT
gene id: 9606:PPAT
uniprot id: A8K4H7
uniprot id: Q06203
uniprot id: Q59G63
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Propeptide
up seq anno labels: Sequence Conflict
up seq anno labels: Transmembrane
up seq anno comments: Amidophosphoribosyltransferase
up seq anno comments: Glutamine amidotransferase type-2
up seq anno comments: Helical
up seq anno comments: N-acetylmethionine
up seq anno comments: Nucleophile
up seq anno comments: Phosphoribosyltransferase
up seq anno feature ids: PRO_0000029283
up seq anno feature ids: PRO_0000029284

9606:RTL10
gene id: 9606:RTL10
uniprot id: Q7L3V2
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: BH3
up seq anno comments: Disordered
up seq anno comments: No effect on interaction with VDAC1.
up seq anno comments: Protein Bop
up seq anno comments: Reduces the pro-apoptotic activity and interaction with VDAC1.
up seq anno comments: Reduces the pro-apoptotic activity, no effect on interaction with VDAC1.
up seq anno feature ids: PRO_0000295910
up seq anno feature ids: VAR_034590
up seq anno feature ids: VAR_034591

9606:MRPS18A
gene id: 9606:MRPS18A
uniprot id: Q9NVS2
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transit Peptide
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Large ribosomal subunit protein mL66
up seq anno comments: Mitochondrion
up seq anno feature ids: PRO_0000030625
up seq anno feature ids: VSP_041245
up seq anno feature ids: VSP_043496

9606:TMCO5A
gene id: 9606:TMCO5A
uniprot id: A0A024R9I9
uniprot id: Q8N6Q1
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Transmembrane and coiled-coil domain-containing protein 5A
up seq anno feature ids: PRO_0000305153
up seq anno feature ids: VSP_028246
up seq anno feature ids: VSP_028247

9606:TSPY2
gene id: 9606:TSPY2
uniprot id: A6NKD2
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno comments: Testis-specific Y-encoded protein 2
up seq anno feature ids: PRO_0000333197

9606:ELOVL4
gene id: 9606:ELOVL4
uniprot id: Q9GZR5
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Di-lysine motif
up seq anno comments: Disordered
up seq anno comments: Elongation of very long chain fatty acids protein 4
up seq anno comments: Helical
up seq anno comments: In SCA34.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000207542
up seq anno feature ids: VAR_012492
up seq anno feature ids: VAR_017043
up seq anno feature ids: VAR_072565

9606:CCS
gene id: 9606:CCS
uniprot id: O14618
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Copper chaperone for superoxide dismutase
up seq anno comments: Found in a patient with congenital cataracts, hearing loss, neurodegeneration, neonatal hypotonia and hypoglycemia, pericardial effusion and neurodevelopmental regression after infection; the patient also carries a mutation in SLC33A1; mutant protein does not interact with SOD1.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: HMA
up seq anno comments: Phosphoserine
up seq anno comments: Reduces copper binding by half; when associated with S-22. Negligible effect on zinc binding.
up seq anno comments: Reduces copper binding by half; when associated with S-244. Negligible effect on zinc binding.
up seq anno comments: Reduces copper binding by half; when associated with S-246. Negligible effect on zinc binding.
up seq anno comments: Reduces copper binding by half; when associated with S-25. Negligible effect on zinc binding.
up seq anno comments: Superoxide dismutase-like
up seq anno feature ids: PRO_0000213543
up seq anno feature ids: VAR_068078

9606:WDR43
gene id: 9606:WDR43
uniprot id: Q15061
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: WD 1
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno comments: WD repeat-containing protein 43
up seq anno feature ids: PRO_0000051392

9606:RASL10A
gene id: 9606:RASL10A
uniprot id: Q92737
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Cysteine methyl ester
up seq anno comments: Effector region
up seq anno comments: In isoform 2.
up seq anno comments: Ras-like protein family member 10A
up seq anno comments: Removed in mature form
up seq anno comments: S-farnesyl cysteine
up seq anno comments: Small GTPase-like
up seq anno feature ids: PRO_0000082706
up seq anno feature ids: PRO_0000281360
up seq anno feature ids: VSP_013372

9606:GTF3A
gene id: 9606:GTF3A
uniprot id: Q92664
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4; atypical
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: In isoform 2.
up seq anno comments: Transcription factor IIIA
up seq anno feature ids: PRO_0000047080
up seq anno feature ids: VAR_014824
up seq anno feature ids: VSP_031525
up seq anno feature ids: VSP_031526

9606:SRSF7
gene id: 9606:SRSF7
uniprot id: Q16629
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Zinc Finger
up seq anno comments: 1
up seq anno comments: 2
up seq anno comments: 3
up seq anno comments: 4
up seq anno comments: 5; approximate
up seq anno comments: 6 X 8 AA repeats of R-R-S-R-S-X-S-X
up seq anno comments: 6; approximate
up seq anno comments: Abolishes interaction with NXF1.
up seq anno comments: Basic residues
up seq anno comments: CCHC-type
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: RRM
up seq anno comments: Serine/arginine-rich splicing factor 7
up seq anno comments: Sufficient for interaction with NXF1
up seq anno feature ids: PRO_0000081932
up seq anno feature ids: VSP_005872
up seq anno feature ids: VSP_005873
up seq anno feature ids: VSP_005874
up seq anno feature ids: VSP_005875
up seq anno feature ids: VSP_045840

9606:TYR
gene id: 9606:TYR
uniprot id: L8B082
uniprot id: P14679
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Associated with SHEP3; light/dark skin.
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In OCA-I.
up seq anno comments: In OCA1.
up seq anno comments: In OCA1A and OCA1B.
up seq anno comments: In OCA1A and OCA1B; temperature sensitive variant.
up seq anno comments: In OCA1A.
up seq anno comments: In OCA1B and OCA1A.
up seq anno comments: In OCA1B.
up seq anno comments: In isoform 2.
up seq anno comments: Lumenal, melanosome
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Tyrosinase
up seq anno comments: Tyrosinase copper-binding
up seq anno feature ids: PRO_0000035879
up seq anno feature ids: PRO_5014306177
up seq anno feature ids: VAR_007649
up seq anno feature ids: VAR_007650
up seq anno feature ids: VAR_007651
up seq anno feature ids: VAR_007652
up seq anno feature ids: VAR_007653
up seq anno feature ids: VAR_007654
up seq anno feature ids: VAR_007655
up seq anno feature ids: VAR_007656
up seq anno feature ids: VAR_007657
up seq anno feature ids: VAR_007658
up seq anno feature ids: VAR_007659
up seq anno feature ids: VAR_007660
up seq anno feature ids: VAR_007661
up seq anno feature ids: VAR_007662
up seq anno feature ids: VAR_007663
up seq anno feature ids: VAR_007664
up seq anno feature ids: VAR_007665
up seq anno feature ids: VAR_007666
up seq anno feature ids: VAR_007667
up seq anno feature ids: VAR_007668
up seq anno feature ids: VAR_007669
up seq anno feature ids: VAR_007670
up seq anno feature ids: VAR_007671
up seq anno feature ids: VAR_007672
up seq anno feature ids: VAR_007673
up seq anno feature ids: VAR_007674
up seq anno feature ids: VAR_007675
up seq anno feature ids: VAR_007676
up seq anno feature ids: VAR_007677
up seq anno feature ids: VAR_007678
up seq anno feature ids: VAR_007679
up seq anno feature ids: VAR_007680

9606:CDK2AP1
gene id: 9606:CDK2AP1
uniprot id: O14519
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Splice Variant
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno labels: Turn
up seq anno comments: Cyclin-dependent kinase 2-associated protein 1
up seq anno comments: Does not alter homodimerization.
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with CDK2AP2
up seq anno comments: Interchain
up seq anno comments: Phosphoserine; by IKKE
up seq anno feature ids: PRO_0000089452
up seq anno feature ids: VSP_046436

9606:OSCP1
gene id: 9606:OSCP1
uniprot id: Q8WVF1
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: In isoform 4.
up seq anno comments: Protein OSCP1
up seq anno feature ids: PRO_0000251965
up seq anno feature ids: VAR_027741
up seq anno feature ids: VAR_027742
up seq anno feature ids: VAR_056958
up seq anno feature ids: VSP_020826
up seq anno feature ids: VSP_039475
up seq anno feature ids: VSP_039476
up seq anno feature ids: VSP_039477

9606:TIMM17A
gene id: 9606:TIMM17A
uniprot id: Q99595
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: Mitochondrial import inner membrane translocase subunit Tim17-A
up seq anno feature ids: PRO_0000210284
up seq anno feature ids: VAR_052305

9606:NFYB
gene id: 9606:NFYB
uniprot id: F8VSL3
uniprot id: P25208
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: A domain
up seq anno comments: B domain
up seq anno comments: Basic and acidic residues
up seq anno comments: C domain
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Nuclear transcription factor Y subunit beta
up seq anno comments: Subunit association domain (SAD)
up seq anno comments: Transcription factor CBF/NF-Y/archaeal histone
up seq anno feature ids: PRO_0000204609

9606:COL6A5
gene id: 9606:COL6A5
uniprot id: A8TX70
uniprot id: H0Y393
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Cell attachment site
up seq anno comments: Collagen alpha-5(VI) chain
up seq anno comments: Collagen-like 1
up seq anno comments: Collagen-like 2
up seq anno comments: Collagen-like 3
up seq anno comments: Collagen-like 4
up seq anno comments: Collagen-like 5
up seq anno comments: Collagen-like 6
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Nonhelical region
up seq anno comments: Polar residues
up seq anno comments: Triple-helical region
up seq anno comments: VWFA
up seq anno comments: VWFA 1
up seq anno comments: VWFA 10
up seq anno comments: VWFA 2
up seq anno comments: VWFA 3
up seq anno comments: VWFA 4
up seq anno comments: VWFA 5
up seq anno comments: VWFA 6
up seq anno comments: VWFA 7
up seq anno comments: VWFA 8
up seq anno comments: VWFA 9
up seq anno feature ids: PRO_5000294475
up seq anno feature ids: PRO_5036499409
up seq anno feature ids: VAR_043607
up seq anno feature ids: VAR_043608
up seq anno feature ids: VAR_059234
up seq anno feature ids: VAR_059235
up seq anno feature ids: VAR_059236
up seq anno feature ids: VAR_059237
up seq anno feature ids: VAR_059238
up seq anno feature ids: VAR_059239
up seq anno feature ids: VAR_059240
up seq anno feature ids: VAR_059241
up seq anno feature ids: VAR_061119
up seq anno feature ids: VSP_033912
up seq anno feature ids: VSP_033913

9606:IMPDH1
gene id: 9606:IMPDH1
uniprot id: B3KRZ3
uniprot id: P20839
uniprot id: Q6ZNB1
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: CBS
up seq anno comments: CBS 1
up seq anno comments: CBS 2
up seq anno comments: Disordered
up seq anno comments: Does not alter the enzymatic affinity of the corresponding enzyme; does not affect the affinity for single-stranded nucleic acid.
up seq anno comments: In LCA11; does not alter the enzymatic affinity of the corresponding enzyme; alters the affinity and/or the specificity of single-stranded nucleic acid.
up seq anno comments: In RP10.
up seq anno comments: In RP10; alters the affinity and/or the specificity of single-stranded nucleic acid.
up seq anno comments: In RP10; does not alter the enzymatic affinity of the corresponding enzyme; alters the affinity and/or the specificity of single-stranded nucleic acid.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: In isoform 7.
up seq anno comments: Inosine-5'-monophosphate dehydrogenase 1
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Proton acceptor
up seq anno comments: Removed
up seq anno comments: Thioimidate intermediate
up seq anno comments: in other chain
up seq anno feature ids: PRO_0000093670
up seq anno feature ids: VAR_017031
up seq anno feature ids: VAR_017032
up seq anno feature ids: VAR_017033
up seq anno feature ids: VAR_065616
up seq anno feature ids: VAR_065617
up seq anno feature ids: VAR_065618
up seq anno feature ids: VAR_065619
up seq anno feature ids: VAR_065620
up seq anno feature ids: VAR_065621
up seq anno feature ids: VSP_002674
up seq anno feature ids: VSP_014363
up seq anno feature ids: VSP_043485
up seq anno feature ids: VSP_046968
up seq anno feature ids: VSP_046969
up seq anno feature ids: VSP_046970

9606:SLC24A2
gene id: 9606:SLC24A2
uniprot id: Q9UI40
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Alpha-1
up seq anno comments: Alpha-2
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Loss of N-glycosylation.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Sodium/potassium/calcium exchanger 2
up seq anno feature ids: PRO_0000019367
up seq anno feature ids: VSP_006164

9606:MAML3
gene id: 9606:MAML3
uniprot id: Q96JK9
uniprot id: Q9NPV6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: Mastermind-like protein 3
up seq anno comments: N6-acetyllysine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000129496
up seq anno feature ids: VAR_046650

9606:MFHAS1
gene id: 9606:MFHAS1
uniprot id: Q9Y4C4
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno comments: Breakpoint for translocation to form chimeric MASL1
up seq anno comments: Dominant negative effect on the ERK1/ERK2 signaling pathway and EPO-induced erythroid differentiation.
up seq anno comments: LRR 1
up seq anno comments: LRR 10
up seq anno comments: LRR 11
up seq anno comments: LRR 12
up seq anno comments: LRR 13
up seq anno comments: LRR 2
up seq anno comments: LRR 3
up seq anno comments: LRR 4
up seq anno comments: LRR 5
up seq anno comments: LRR 6
up seq anno comments: LRR 7
up seq anno comments: LRR 8
up seq anno comments: LRR 9
up seq anno comments: Loss of GTP-binding.
up seq anno comments: Malignant fibrous histiocytoma-amplified sequence 1
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: Removed
up seq anno comments: Required for interaction with PJA2
up seq anno comments: Required for interaction with PPP2R2A
up seq anno comments: Roc
up seq anno feature ids: PRO_0000308609
up seq anno feature ids: VAR_036846
up seq anno feature ids: VAR_036847

9606:TEAD2
gene id: 9606:TEAD2
uniprot id: Q15562
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Pro residues
up seq anno comments: TEA
up seq anno comments: Transcriptional activation
up seq anno comments: Transcriptional enhancer factor TEF-4
up seq anno feature ids: PRO_0000205932
up seq anno feature ids: VSP_045126
up seq anno feature ids: VSP_045127
up seq anno feature ids: VSP_055673

9606:ANKRD11
gene id: 9606:ANKRD11
uniprot id: Q6UB99
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: ANK 1
up seq anno comments: ANK 2
up seq anno comments: ANK 3
up seq anno comments: ANK 4
up seq anno comments: Ankyrin repeat domain-containing protein 11
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Disordered
up seq anno comments: Important for protein degradation
up seq anno comments: In KBGS; unknown pathological significance.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000066907
up seq anno feature ids: VAR_075870

9606:PPEF1
gene id: 9606:PPEF1
uniprot id: A0A8I5KXD3
uniprot id: O14829
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Catalytic
up seq anno comments: EF-hand
up seq anno comments: EF-hand 1
up seq anno comments: EF-hand 2
up seq anno comments: EF-hand 3
up seq anno comments: IQ
up seq anno comments: In isoform 1A.
up seq anno comments: In isoform 1B.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Proton donor
up seq anno comments: Serine/threonine-protein phosphatase with EF-hands 1
up seq anno feature ids: PRO_0000058899
up seq anno feature ids: VAR_051736
up seq anno feature ids: VAR_051737
up seq anno feature ids: VSP_005098
up seq anno feature ids: VSP_005099
up seq anno feature ids: VSP_005100
up seq anno feature ids: VSP_005101
up seq anno feature ids: VSP_005102

9606:ELAPOR2
gene id: 9606:ELAPOR2
uniprot id: A8MWY0
uniprot id: B4E116
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Endosome/lysosome-associated apoptosis and autophagy regulator family member 2
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: MRH
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000333798
up seq anno feature ids: VAR_043161
up seq anno feature ids: VAR_043162
up seq anno feature ids: VAR_043163
up seq anno feature ids: VSP_033529
up seq anno feature ids: VSP_033530
up seq anno feature ids: VSP_043254
up seq anno feature ids: VSP_043255

9606:ZNF544
gene id: 9606:ZNF544
uniprot id: B4DL50
uniprot id: B7ZAY1
uniprot id: J3KQC8
uniprot id: M0QZM7
uniprot id: M0R2F0
uniprot id: Q6NX49
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 12
up seq anno comments: C2H2-type 13
up seq anno comments: C2H2-type 1; atypical
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 544
up seq anno feature ids: PRO_0000047643
up seq anno feature ids: VAR_052859
up seq anno feature ids: VAR_052860

9606:IL1B
gene id: 9606:IL1B
uniprot id: P01584
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Propeptide
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: (Microbial infection) Cleavage; S.pyogenes SpeB
up seq anno comments: Enhanced integrin binding.
up seq anno comments: Important for interaction with integrin
up seq anno comments: Increased affinity for integrin ITGAV:ITGB3. Suppression of integrin binding; when associated with E-171; E-190 or E-204. Suppression of integrin binding; when associated with E-179 and E-181.
up seq anno comments: Interleukin-1 beta
up seq anno comments: Involved in interaction with TMED10 C-terminus
up seq anno comments: Involved in receptor binding
up seq anno comments: Loss of activation by CASP1; when associated with A-116.
up seq anno comments: Loss of activation by CASP1; when associated with A-27.
up seq anno comments: No effect on binding to IL1R or on IL1B activity. Markedly reduced activity; when associated with E-171; E-190 and E-204. Markedly reduced activity; when associated with E-179; E-181; E-190 and E-204.
up seq anno comments: Promotes release of IL1B precursors through the Gasdermin-D (GSDMD) ring-shaped pore complex.
up seq anno comments: Removed in mature form; by CASP1
up seq anno comments: Requires 2 nucleotide substitutions.
up seq anno comments: Suppression of integrin binding; when associated with E-179 and K-244. Markedly reduced activity; when associated with E-179; E-190; E-204 and C-233.
up seq anno comments: Suppression of integrin binding; when associated with E-181 and K-244. Markedly reduced activity; when associated with E-181; E-190; E-204 and C-233.
up seq anno comments: Suppression of integrin binding; when associated with K-244. Markedly reduced activity; when associated with E-171; E-190 and C-233. Markedly reduced activity; when associated with E-179; E-181; E-190 and C-233.
up seq anno comments: Suppression of integrin binding; when associated with K-244. Markedly reduced activity; when associated with E-171; E-204 and C-233. Markedly reduced activity; when associated with E-179; E-181; E-204 and C-233.
up seq anno comments: Suppression of integrin binding; when associated with K-244. Markedly reduced activity; when associated with E-190; E-204 and C-233.
up seq anno feature ids: PRO_0000015301
up seq anno feature ids: PRO_0000015302
up seq anno feature ids: VAR_073951

9606:SST
gene id: 9606:SST
uniprot id: P61278
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Peptide
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno labels: Disulfide Bond
up seq anno labels: Modified Residue
up seq anno labels: Peptide
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno comments: Alanine amide
up seq anno comments: Disordered
up seq anno comments: Neuronostatin
up seq anno comments: Somatostatin-14
up seq anno comments: Somatostatin-28
up seq anno feature ids: PRO_0000033086
up seq anno feature ids: PRO_0000033087
up seq anno feature ids: PRO_0000033088
up seq anno feature ids: PRO_0000447375
up seq anno feature ids: VAR_034499
up seq anno feature ids: VAR_034500

9606:PRRX2
gene id: 9606:PRRX2
uniprot id: A0A140VJS2
uniprot id: Q99811
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno comments: Disordered
up seq anno comments: Homeobox
up seq anno comments: OAR
up seq anno comments: Paired mesoderm homeobox protein 2
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000049255

9606:CNTN2
gene id: 9606:CNTN2
uniprot id: A1L3A3
uniprot id: Q02246
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Lipid Binding
up seq anno labels: Motif
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno comments: Cell attachment site
up seq anno comments: Contactin-2
up seq anno comments: Disordered
up seq anno comments: Fibronectin type-III
up seq anno comments: Fibronectin type-III 1
up seq anno comments: Fibronectin type-III 2
up seq anno comments: Fibronectin type-III 3
up seq anno comments: Fibronectin type-III 4
up seq anno comments: GPI-anchor amidated asparagine
up seq anno comments: Ig-like
up seq anno comments: Ig-like C2-type 1
up seq anno comments: Ig-like C2-type 2
up seq anno comments: Ig-like C2-type 3
up seq anno comments: Ig-like C2-type 4
up seq anno comments: Ig-like C2-type 5
up seq anno comments: Ig-like C2-type 6
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Removed in mature form
up seq anno feature ids: PRO_0000014695
up seq anno feature ids: PRO_0000014696
up seq anno feature ids: PRO_5002636455
up seq anno feature ids: VAR_021918
up seq anno feature ids: VAR_021919
up seq anno feature ids: VAR_029129
up seq anno feature ids: VAR_049867

9606:BIK
gene id: 9606:BIK
uniprot id: Q13323
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Transmembrane
up seq anno comments: BH3
up seq anno comments: Bcl-2-interacting killer
up seq anno comments: Cleavage; by RHBDL4/RHBDD1
up seq anno comments: Helical
up seq anno comments: Inhibits RHBDL4/RHBDD1-induced cleavage.
up seq anno comments: Leucine-zipper
up seq anno feature ids: PRO_0000143100
up seq anno feature ids: VAR_029179
up seq anno feature ids: VAR_029180
up seq anno feature ids: VAR_048420

9606:LHFPL3
gene id: 9606:LHFPL3
uniprot id: Q86UP9
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: LHFPL tetraspan subfamily member 3 protein
up seq anno feature ids: PRO_0000244766

9606:LAMB3
gene id: 9606:LAMB3
uniprot id: A0A0S2Z3R6
uniprot id: Q13751
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Domain I
up seq anno comments: Domain II
up seq anno comments: Domain alpha
up seq anno comments: In JEB1A.
up seq anno comments: In JEB1A; somatic second-site mutation.
up seq anno comments: In JEB1B.
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: Interchain
up seq anno comments: Laminin EGF-like
up seq anno comments: Laminin EGF-like 1
up seq anno comments: Laminin EGF-like 2
up seq anno comments: Laminin EGF-like 3
up seq anno comments: Laminin EGF-like 4
up seq anno comments: Laminin EGF-like 5
up seq anno comments: Laminin EGF-like 6
up seq anno comments: Laminin N-terminal
up seq anno comments: Laminin subunit beta-3
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000017071
up seq anno feature ids: PRO_5006608208
up seq anno feature ids: VAR_004170
up seq anno feature ids: VAR_004171
up seq anno feature ids: VAR_034060
up seq anno feature ids: VAR_034061
up seq anno feature ids: VAR_034062
up seq anno feature ids: VAR_034063
up seq anno feature ids: VAR_035820
up seq anno feature ids: VAR_037309
up seq anno feature ids: VAR_037310
up seq anno feature ids: VAR_037311
up seq anno feature ids: VAR_037312
up seq anno feature ids: VAR_037313
up seq anno feature ids: VAR_037314

9606:GIMAP7
gene id: 9606:GIMAP7
uniprot id: A0A090N8P8
uniprot id: Q8NHV1
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Strand
up seq anno comments: AIG1-type G
up seq anno comments: Abolishes GTPase activity. No effect on GTP binding and on dimerization.
up seq anno comments: G1
up seq anno comments: G2
up seq anno comments: G3
up seq anno comments: G4
up seq anno comments: G5
up seq anno comments: GTPase IMAP family member 7
up seq anno comments: Impairs dimerization and abolishes GTPase activity. No effect on GTP binding.
up seq anno comments: Important for catalytic activity
up seq anno feature ids: PRO_0000190993
up seq anno feature ids: VAR_049534

9606:FOXD4L6
gene id: 9606:FOXD4L6
uniprot id: Q3SYB3
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Region
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Fork-head
up seq anno comments: Forkhead box protein D4-like 6
up seq anno feature ids: PRO_0000301979

9606:PABPC4
gene id: 9606:PABPC4
uniprot id: Q13310
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Dimethylated arginine
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N6,N6-dimethyllysine; alternate
up seq anno comments: Omega-N-methylarginine
up seq anno comments: PABC
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polyadenylate-binding protein 4
up seq anno comments: RRM 1
up seq anno comments: RRM 2
up seq anno comments: RRM 3
up seq anno comments: RRM 4
up seq anno feature ids: PRO_0000081703
up seq anno feature ids: VAR_054048
up seq anno feature ids: VSP_013335
up seq anno feature ids: VSP_043357

9606:IL9
gene id: 9606:IL9
uniprot id: P15248
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno comments: Interleukin-9
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Pyrrolidone carboxylic acid
up seq anno feature ids: PRO_0000015627
up seq anno feature ids: VAR_013079

9606:PADI6
gene id: 9606:PADI6
uniprot id: Q6TGC4
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: In OZEMA16.
up seq anno comments: Phosphoserine
up seq anno comments: Protein-arginine deiminase type-6
up seq anno feature ids: PRO_0000220036
up seq anno feature ids: VAR_078106
up seq anno feature ids: VAR_078107

9606:CHST9
gene id: 9606:CHST9
uniprot id: Q7L1S5
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Carbohydrate sulfotransferase 9
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In isoform 2.
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000189655
up seq anno feature ids: VAR_055150
up seq anno feature ids: VAR_079095
up seq anno feature ids: VSP_043865
up seq anno feature ids: VSP_043866

9606:USP17L2
gene id: 9606:USP17L2
uniprot id: Q6R6M4
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Abolishes both enzymatic activity and effects on cell proliferation.
up seq anno comments: Disordered
up seq anno comments: Mediates interaction with SUDS3
up seq anno comments: Nucleophile
up seq anno comments: Polar residues
up seq anno comments: Proton acceptor
up seq anno comments: USP
up seq anno comments: Ubiquitin carboxyl-terminal hydrolase 17
up seq anno feature ids: PRO_0000331644
up seq anno feature ids: VAR_059750

9606:CYP7B1
gene id: 9606:CYP7B1
uniprot id: O75881
uniprot id: Q05C57
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
up seq anno comments: Cytochrome P450 7B1
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In SPG5A.
up seq anno comments: In SPG5A; unknown pathological significance.
up seq anno comments: axial binding residue
up seq anno feature ids: PRO_0000051906
up seq anno feature ids: VAR_044382
up seq anno feature ids: VAR_044383
up seq anno feature ids: VAR_044384
up seq anno feature ids: VAR_044385
up seq anno feature ids: VAR_075505
up seq anno feature ids: VAR_075506
up seq anno feature ids: VAR_075507
up seq anno feature ids: VAR_075508
up seq anno feature ids: VAR_075509
up seq anno feature ids: VAR_075510
up seq anno feature ids: VAR_075511
up seq anno feature ids: VAR_075512
up seq anno feature ids: VAR_075513
up seq anno feature ids: VAR_075514
up seq anno feature ids: VAR_075515
up seq anno feature ids: VAR_075516
up seq anno feature ids: VAR_075517
up seq anno feature ids: VAR_075518

9606:USP43
gene id: 9606:USP43
uniprot id: Q70EL4
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Asymmetric dimethylarginine
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Nucleophile
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Proton acceptor
up seq anno comments: USP
up seq anno comments: Ubiquitin carboxyl-terminal hydrolase 43
up seq anno feature ids: PRO_0000249521
up seq anno feature ids: VSP_020466
up seq anno feature ids: VSP_020467
up seq anno feature ids: VSP_020468
up seq anno feature ids: VSP_046779

9606:TOR1AIP2
gene id: 9606:TOR1AIP2
uniprot id: Q8NFQ8
uniprot id: Q9H496
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: Interaction with TOR1A
up seq anno comments: Lumenal
up seq anno comments: N-acetylalanine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno comments: Torsin-1A-interacting protein 2
up seq anno comments: Torsin-1A-interacting protein 2, isoform IFRG15
up seq anno feature ids: PRO_0000228838
up seq anno feature ids: PRO_0000421071

9606:COL3A1
gene id: 9606:COL3A1
uniprot id: P02461
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 4-hydroxyproline
up seq anno comments: 5-hydroxylysine
up seq anno comments: 5-hydroxylysine; alternate
up seq anno comments: C-terminal propeptide
up seq anno comments: Collagen alpha-1(III) chain
up seq anno comments: Disordered
up seq anno comments: Fibrillar collagen NC1
up seq anno comments: In EDSVASC.
up seq anno comments: In EDSVASC; Gottron type acrogeria.
up seq anno comments: In EDSVASC; mild variant.
up seq anno comments: In EDSVASC; requires 2 nucleotide substitutions.
up seq anno comments: In EDSVASC; severe variant.
up seq anno comments: In EDSVASC; severe.
up seq anno comments: In PMGEDSV.
up seq anno comments: In PMGEDSV; does not affect interaction with ADGRG1.
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In spondyloepiphyseal dysplasia.
up seq anno comments: Interchain
up seq anno comments: Interchain (with C-1268)
up seq anno comments: Interchain (with C-1285)
up seq anno comments: N-terminal propeptide
up seq anno comments: Nonhelical region (C-terminal)
up seq anno comments: Nonhelical region (N-terminal)
up seq anno comments: O-linked (Gal...) hydroxylysine; alternate
up seq anno comments: Pro residues
up seq anno comments: Triple-helical region
up seq anno comments: VWFC
up seq anno feature ids: PRO_0000005740
up seq anno feature ids: PRO_0000005741
up seq anno feature ids: PRO_0000005742
up seq anno feature ids: VAR_001767
up seq anno feature ids: VAR_001768
up seq anno feature ids: VAR_001769
up seq anno feature ids: VAR_001770
up seq anno feature ids: VAR_001771
up seq anno feature ids: VAR_001772
up seq anno feature ids: VAR_001773
up seq anno feature ids: VAR_001774
up seq anno feature ids: VAR_001775

9606:C1orf74
gene id: 9606:C1orf74
uniprot id: Q96LT6
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno comments: UPF0739 protein C1orf74
up seq anno feature ids: PRO_0000271092
up seq anno feature ids: VAR_050701

9606:YWHAG
gene id: 9606:YWHAG
uniprot id: P61981
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Turn
up seq anno comments: 14-3-3 protein gamma
up seq anno comments: 14-3-3 protein gamma, N-terminally processed
up seq anno comments: Found in an individual with autism; unknown pathological significance.
up seq anno comments: In DEE56.
up seq anno comments: In DEE56; unknown pathological significance.
up seq anno comments: Interaction with phosphoserine on interacting protein
up seq anno comments: N-acetylmethionine; in 14-3-3 protein gamma; alternate; partial
up seq anno comments: N-acetylvaline; in 14-3-3 protein gamma, N-terminally processed; partial
up seq anno comments: N-acetylvaline; partial
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Probable disease-associated variant found in an individual with neurodevelopmental disorder.
up seq anno comments: Removed; alternate
up seq anno feature ids: PRO_0000058606
up seq anno feature ids: PRO_0000367907
up seq anno feature ids: VAR_080224
up seq anno feature ids: VAR_080225
up seq anno feature ids: VAR_080226
up seq anno feature ids: VAR_080227
up seq anno feature ids: VAR_080228

9606:VSNL1
gene id: 9606:VSNL1
uniprot id: P62760
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Initiator Methionine
up seq anno labels: Lipid Binding
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: EF-hand 1
up seq anno comments: EF-hand 2
up seq anno comments: EF-hand 3
up seq anno comments: EF-hand 4
up seq anno comments: N-myristoyl glycine
up seq anno comments: Removed
up seq anno comments: Visinin-like protein 1
up seq anno feature ids: PRO_0000073763
up seq anno feature ids: VAR_047313
up seq anno feature ids: VAR_047314

9606:NRBF2
gene id: 9606:NRBF2
uniprot id: Q96F24
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Decreased interaction with nuclear receptors.
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Nuclear receptor interaction motif
up seq anno comments: Nuclear receptor-binding factor 2
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000235816
up seq anno feature ids: VSP_018488
up seq anno feature ids: VSP_054555

9606:GDPD3
gene id: 9606:GDPD3
uniprot id: Q7L5L3
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: GP-PDE
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Lysophospholipase D GDPD3
up seq anno feature ids: PRO_0000251936
up seq anno feature ids: VSP_036888

9606:KAT14
gene id: 9606:KAT14
uniprot id: Q9H8E8
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Cysteine-rich protein 2-binding protein
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: N-acetyltransferase
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000074603
up seq anno feature ids: VAR_020466
up seq anno feature ids: VAR_028034
up seq anno feature ids: VAR_028035
up seq anno feature ids: VAR_033839
up seq anno feature ids: VAR_048166
up seq anno feature ids: VSP_000070

9606:ALKBH3
gene id: 9606:ALKBH3
uniprot id: Q96Q83
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: (4R)-5-hydroxyleucine; alternate
up seq anno comments: (4R)-5-oxoleucine; alternate
up seq anno comments: Acquires the capacity to efficiently repair N1-methyladenine adduct in dsDNA.
up seq anno comments: Alpha-ketoglutarate-dependent dioxygenase alkB homolog 3
up seq anno comments: Decreases activity against N1-methyladenine.
up seq anno comments: Decreases activity by about 60%.
up seq anno comments: Decreases activity by about 65%.
up seq anno comments: Decreases activity towards ssDNA by 25%. Loss of activity towards dsDNA.
up seq anno comments: Disordered
up seq anno comments: Fe2OG dioxygenase
up seq anno comments: In isoform 2.
up seq anno comments: Loss of activity against N1-methyladenine.
up seq anno comments: Loss of activity.
up seq anno comments: No effect.
up seq anno comments: Polar residues
up seq anno comments: Strong decrease of activity.
up seq anno comments: Strongly increases activity towards dsDNA, possibly by facilitating access to the active site.
up seq anno feature ids: PRO_0000239278
up seq anno feature ids: VAR_026631
up seq anno feature ids: VAR_026632
up seq anno feature ids: VSP_019125
up seq anno feature ids: VSP_019126
up seq anno feature ids: VSP_019127

9606:CNEP1R1
gene id: 9606:CNEP1R1
uniprot id: B8YCP3
uniprot id: Q8N9A8
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-acetylmethionine
up seq anno comments: Nuclear envelope phosphatase-regulatory subunit 1
up seq anno feature ids: PRO_0000286615
up seq anno feature ids: VSP_025126
up seq anno feature ids: VSP_025127
up seq anno feature ids: VSP_025128

9606:AKR1C2
gene id: 9606:AKR1C2
uniprot id: B4DK69
uniprot id: P52895
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Aldo-keto reductase family 1 member C2
up seq anno comments: Decreases 3-alpha-hydroxysteroid reductase activity about 50-fold.
up seq anno comments: Decreases 3-alpha-hydroxysteroid reductase activity about 500-fold.
up seq anno comments: In SRXY8; partially impaired activity.
up seq anno comments: In isoform 2.
up seq anno comments: Increases the low androstenedione reductase activity.
up seq anno comments: Lowers pKa of active site Tyr
up seq anno comments: NADP-dependent oxidoreductase
up seq anno comments: Proton donor
up seq anno comments: Strongly decreases affinity for androstenedione. Decreases androstenedione reductase activity about 60-fold.
up seq anno feature ids: PRO_0000124637
up seq anno feature ids: VAR_014748
up seq anno feature ids: VAR_048216
up seq anno feature ids: VAR_066632
up seq anno feature ids: VAR_066633
up seq anno feature ids: VAR_066634
up seq anno feature ids: VAR_066635
up seq anno feature ids: VSP_043779
up seq anno feature ids: VSP_043780

9606:IGHMBP2
gene id: 9606:IGHMBP2
uniprot id: P38935
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: AN1-type
up seq anno comments: DNA-binding protein SMUBP-2
up seq anno comments: Disordered
up seq anno comments: In CMT2S.
up seq anno comments: In HMN6.
up seq anno comments: In HMN6; does not affect ATPase activity; loss of helicase activity on RNA duplices.
up seq anno comments: In HMN6; does not affect activity; reduces protein steady-state levels.
up seq anno comments: In HMN6; severe reduction of ATPase activity and loss of helicase activity on RNA duplices.
up seq anno comments: In HMN6; unknown pathological significance.
up seq anno comments: N-acetylalanine
up seq anno comments: Nuclear localization signal
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: R3H
up seq anno comments: Removed
up seq anno comments: SS DNA-binding
up seq anno feature ids: PRO_0000080701
up seq anno feature ids: VAR_020147
up seq anno feature ids: VAR_021899
up seq anno feature ids: VAR_021900
up seq anno feature ids: VAR_022321
up seq anno feature ids: VAR_022322
up seq anno feature ids: VAR_022323
up seq anno feature ids: VAR_022324
up seq anno feature ids: VAR_022325
up seq anno feature ids: VAR_022326
up seq anno feature ids: VAR_022327
up seq anno feature ids: VAR_022328
up seq anno feature ids: VAR_022329
up seq anno feature ids: VAR_022330
up seq anno feature ids: VAR_022331
up seq anno feature ids: VAR_022332
up seq anno feature ids: VAR_022333
up seq anno feature ids: VAR_022334
up seq anno feature ids: VAR_022335
up seq anno feature ids: VAR_022336
up seq anno feature ids: VAR_022337
up seq anno feature ids: VAR_022338
up seq anno feature ids: VAR_022339
up seq anno feature ids: VAR_022340
up seq anno feature ids: VAR_024242
up seq anno feature ids: VAR_024243
up seq anno feature ids: VAR_055225
up seq anno feature ids: VAR_055226

9606:LRRC8D
gene id: 9606:LRRC8D
uniprot id: B3KRU1
uniprot id: Q7L1W4
uniprot id: Q96GG5
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Affects ion selectivity of the channel. Reduced permeability to negatively charged glutamate and gluconate.
up seq anno comments: Alters channel anion selectivity.
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: LRR 1
up seq anno comments: LRR 10
up seq anno comments: LRR 11
up seq anno comments: LRR 12
up seq anno comments: LRR 13
up seq anno comments: LRR 2
up seq anno comments: LRR 3
up seq anno comments: LRR 4
up seq anno comments: LRR 5
up seq anno comments: LRR 6
up seq anno comments: LRR 7
up seq anno comments: LRR 8
up seq anno comments: LRR 9
up seq anno comments: LRRC8 pannexin-like TM region
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Volume-regulated anion channel subunit LRRC8D
up seq anno feature ids: PRO_0000084493
up seq anno feature ids: VAR_051132

9606:LRRC36
gene id: 9606:LRRC36
uniprot id: B7Z4G3
uniprot id: Q1X8D7
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: LRR 1
up seq anno comments: LRR 2
up seq anno comments: LRRCT
up seq anno comments: Leucine-rich repeat-containing protein 36
up seq anno feature ids: PRO_0000275855
up seq anno feature ids: VAR_047015
up seq anno feature ids: VAR_047016
up seq anno feature ids: VAR_047017
up seq anno feature ids: VSP_022963
up seq anno feature ids: VSP_022964
up seq anno feature ids: VSP_057264
up seq anno feature ids: VSP_057265
up seq anno feature ids: VSP_057266

9606:GBE1
gene id: 9606:GBE1
uniprot id: Q04446
uniprot id: Q59ET0
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 1,4-alpha-glucan-branching enzyme
up seq anno comments: Glycosyl hydrolase family 13 catalytic
up seq anno comments: In APBN.
up seq anno comments: In GSD4 and APBN.
up seq anno comments: In GSD4.
up seq anno comments: In GSD4; childhood neuromuscular form; 15 to 25% residual activity.
up seq anno comments: In GSD4; loss of activity.
up seq anno comments: In GSD4; non-progressive form; impairs protein stability; 50% residual activity.
up seq anno comments: N-acetylalanine
up seq anno comments: Nucleophile
up seq anno comments: Phosphotyrosine
up seq anno comments: Proton donor
up seq anno comments: Removed
up seq anno feature ids: PRO_0000188775
up seq anno feature ids: VAR_022109
up seq anno feature ids: VAR_022429
up seq anno feature ids: VAR_022430
up seq anno feature ids: VAR_022431
up seq anno feature ids: VAR_022432
up seq anno feature ids: VAR_022433
up seq anno feature ids: VAR_022434
up seq anno feature ids: VAR_022435
up seq anno feature ids: VAR_022436
up seq anno feature ids: VAR_034747
up seq anno feature ids: VAR_034748
up seq anno feature ids: VAR_034749

9606:PRRX1
gene id: 9606:PRRX1
uniprot id: P54821
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: Homeobox
up seq anno comments: In AGOTC.
up seq anno comments: In isoform 2.
up seq anno comments: N6-acetyllysine
up seq anno comments: OAR
up seq anno comments: Paired mesoderm homeobox protein 1
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000049251
up seq anno feature ids: VAR_066414
up seq anno feature ids: VSP_002278

9606:ABO
gene id: 9606:ABO
uniprot id: A0A089QDC1
uniprot id: P16442
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Alters substrate specificity of group B transferase.
up seq anno comments: Alters substrate specificity so that both UDP-N-acetyl-D-galactosamine and UDP-galactose are utilized.
up seq anno comments: Cytoplasmic
up seq anno comments: Decreases specific activity of group B transferase almost to zero.
up seq anno comments: Fucosylglycoprotein alpha-N-acetylgalactosaminyltransferase soluble form
up seq anno comments: Helical
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: Histo-blood group ABO system transferase
up seq anno comments: In allele A106 and allele B3.
up seq anno comments: In allele A107.
up seq anno comments: In allele A2.
up seq anno comments: In allele Aw07.
up seq anno comments: In allele Aw08 and allele Bw08.
up seq anno comments: In allele Aw08.
up seq anno comments: In allele B(A).
up seq anno comments: In allele B104.
up seq anno comments: In allele B106.
up seq anno comments: In allele Bel01; loss of manganese binding and reduced catalytic activity.
up seq anno comments: In allele Bw08.
up seq anno comments: In group B transferase; lower-level protein expression and intracellular cytoplasmic mislocation.
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Nucleophile
up seq anno feature ids: PRO_0000012268
up seq anno feature ids: PRO_0000012269
up seq anno feature ids: VAR_003408
up seq anno feature ids: VAR_003409
up seq anno feature ids: VAR_003410
up seq anno feature ids: VAR_003411
up seq anno feature ids: VAR_003412
up seq anno feature ids: VAR_003413
up seq anno feature ids: VAR_003414
up seq anno feature ids: VAR_019147
up seq anno feature ids: VAR_019148
up seq anno feature ids: VAR_019149
up seq anno feature ids: VAR_019150
up seq anno feature ids: VAR_019151
up seq anno feature ids: VAR_019152
up seq anno feature ids: VAR_019153
up seq anno feature ids: VAR_019154
up seq anno feature ids: VAR_033540
up seq anno feature ids: VAR_033541
up seq anno feature ids: VAR_036738
up seq anno feature ids: VAR_036739
up seq anno feature ids: VAR_036740
up seq anno feature ids: VAR_036741
up seq anno feature ids: VAR_036742
up seq anno feature ids: VAR_036743

9606:FHIP2B
gene id: 9606:FHIP2B
uniprot id: Q86V87
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: FHF complex subunit HOOK-interacting protein 2B
up seq anno feature ids: PRO_0000284645
up seq anno feature ids: VAR_054008
up seq anno feature ids: VAR_054009

9606:H2AJ
gene id: 9606:H2AJ
uniprot id: Q9BTM1
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: Histone H2A.J
up seq anno comments: In isoform 2.
up seq anno comments: N5-methylglutamine
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-lactoyllysine; alternate
up seq anno comments: Phosphothreonine; by DCAF1
up seq anno comments: Removed
up seq anno feature ids: PRO_0000344247
up seq anno feature ids: VSP_034750

9606:LCE3E
gene id: 9606:LCE3E
uniprot id: Q5T5B0
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Region
up seq anno comments: Disordered
up seq anno comments: Late cornified envelope protein 3E
up seq anno feature ids: PRO_0000235337

9606:POLK
gene id: 9606:POLK
uniprot id: Q9UBT6
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: DNA polymerase kappa
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4, isoform 7 and isoform 8.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6 and isoform 7.
up seq anno comments: Loss of DNA polymerase activity; when associated with A-199.
up seq anno comments: Loss of DNA polymerase activity; when associated with D-198.
up seq anno comments: Polar residues
up seq anno comments: UBZ4-type 1
up seq anno comments: UBZ4-type 2
up seq anno comments: UmuC
up seq anno feature ids: PRO_0000173990
up seq anno feature ids: VAR_021246
up seq anno feature ids: VAR_021247
up seq anno feature ids: VAR_021248
up seq anno feature ids: VAR_048886
up seq anno feature ids: VAR_048887
up seq anno feature ids: VSP_012801
up seq anno feature ids: VSP_012802
up seq anno feature ids: VSP_012803
up seq anno feature ids: VSP_012804
up seq anno feature ids: VSP_012805
up seq anno feature ids: VSP_012806
up seq anno feature ids: VSP_053406
up seq anno feature ids: VSP_053407
up seq anno feature ids: VSP_053408
up seq anno feature ids: VSP_053409

9606:SLC25A51
gene id: 9606:SLC25A51
uniprot id: Q9H1U9
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Impaired import of NAD(+) into mitochondria.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: Mitochondrial nicotinamide adenine dinucleotide transporter SLC25A51
up seq anno comments: Solcar 1
up seq anno comments: Solcar 2
up seq anno comments: Solcar 3
up seq anno feature ids: PRO_0000090711
up seq anno feature ids: VAR_036333

9606:MORC4
gene id: 9606:MORC4
uniprot id: B4DTP6
uniprot id: Q8TE76
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: CW-type
up seq anno comments: Disordered
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 2.
up seq anno comments: MORC family CW-type zinc finger protein 4
up seq anno feature ids: PRO_0000096539
up seq anno feature ids: VAR_051197
up seq anno feature ids: VAR_051198
up seq anno feature ids: VSP_045025
up seq anno feature ids: VSP_045026

9606:GPX1
gene id: 9606:GPX1
uniprot id: P07203
uniprot id: Q7L4Q3
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non standard residue
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Non standard residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Glutathione peroxidase 1
up seq anno comments: In isoform 2.
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Selenocysteine
up seq anno comments: Subject to oxidation and hydroselenide loss to dehydroalanine
up seq anno feature ids: PRO_0000066610
up seq anno feature ids: VAR_007904
up seq anno feature ids: VAR_020912
up seq anno feature ids: VAR_020913
up seq anno feature ids: VAR_020914
up seq anno feature ids: VAR_020915
up seq anno feature ids: VSP_047369
up seq anno feature ids: VSP_047370

9606:ZG16B
gene id: 9606:ZG16B
uniprot id: G8H6I3
uniprot id: Q96DA0
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno comments: Jacalin-type lectin
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Zymogen granule protein 16 homolog B
up seq anno feature ids: PRO_0000248073
up seq anno feature ids: VAR_060067

9606:EEF1B2
gene id: 9606:EEF1B2
uniprot id: P24534
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: Elongation factor 1-beta
up seq anno comments: GST C-terminal
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000155021

9606:PANX1
gene id: 9606:PANX1
uniprot id: Q96RD7
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Found in a patient with primary ovarian failure associated with intellectual disability and sensorineural hearing loss; unknown pathological significance; no change in glycosylation pattern.
up seq anno comments: Helical
up seq anno comments: Impaired glycosylation. Loss of GLY1 and GLY2 forms. No effect on oocyte survival.
up seq anno comments: Impaired glycosylation; loss of GLY2 form; oocyte death.
up seq anno comments: In OZEMA7; impaired glycosylation resulting in the absence of GLY2 and the accumulation of GLY1 forms; associated with increased hemi-channel activity.
up seq anno comments: In OZEMA7; impaired glycosylation resulting in the absence of GLY2 and the accumulation of GLY1 forms; associated with increased hemichannel activity.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No change in glycosylation pattern.
up seq anno comments: Pannexin-1
up seq anno comments: S-nitrosocysteine
up seq anno feature ids: PRO_0000208484
up seq anno feature ids: VAR_016098
up seq anno feature ids: VAR_031225
up seq anno feature ids: VAR_083161
up seq anno feature ids: VAR_083162
up seq anno feature ids: VAR_083163
up seq anno feature ids: VAR_083164
up seq anno feature ids: VAR_083165
up seq anno feature ids: VSP_011476

9606:RAD50
gene id: 9606:RAD50
uniprot id: A5D6Y3
uniprot id: Q92878
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes ability to degrade ATP.
up seq anno comments: DNA repair protein RAD50
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Rad50/SbcC-type AAA
up seq anno comments: Zinc-hook
up seq anno feature ids: PRO_0000138641
up seq anno feature ids: VAR_020958
up seq anno feature ids: VAR_020959
up seq anno feature ids: VAR_020960
up seq anno feature ids: VAR_020961
up seq anno feature ids: VAR_020962
up seq anno feature ids: VAR_022085
up seq anno feature ids: VAR_025526
up seq anno feature ids: VAR_025527
up seq anno feature ids: VAR_029168
up seq anno feature ids: VAR_029169
up seq anno feature ids: VAR_029170
up seq anno feature ids: VAR_034436
up seq anno feature ids: VAR_061779
up seq anno feature ids: VSP_012590
up seq anno feature ids: VSP_012591

9606:NOL4L
gene id: 9606:NOL4L
uniprot id: A0A087X0N3
uniprot id: Q6P0R2
uniprot id: Q96MY1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Nucleolar protein 4-like
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000079456
up seq anno feature ids: VSP_014667
up seq anno feature ids: VSP_014668

9606:UPK3B
gene id: 9606:UPK3B
uniprot id: Q9BT76
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Uroplakin-3b
up seq anno feature ids: PRO_0000022640
up seq anno feature ids: VAR_034561
up seq anno feature ids: VAR_047805
up seq anno feature ids: VSP_037327
up seq anno feature ids: VSP_054295

9606:ZHX1-C8orf76
gene id: 9606:ZHX1-C8orf76
uniprot id: Q96EF9
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno comments: Zinc fingers and homeoboxes protein 1, isoform 2
up seq anno feature ids: PRO_0000415939

9606:TMEM42
gene id: 9606:TMEM42
uniprot id: Q69YG0
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: Transmembrane protein 42
up seq anno feature ids: PRO_0000284495

9606:NPBWR2
gene id: 9606:NPBWR2
uniprot id: P48146
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Neuropeptides B/W receptor type 2
up seq anno feature ids: PRO_0000069522
up seq anno feature ids: VAR_003579
up seq anno feature ids: VAR_035766

9606:ITGB2
gene id: 9606:ITGB2
uniprot id: A0A494C0X7
uniprot id: B4E0R1
uniprot id: P05107
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Abolishes phosphorylation. Reduces COS cell adhesion to ICAM1.
up seq anno comments: Cell attachment site
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: EGF-like 1
up seq anno comments: EGF-like 2
up seq anno comments: EGF-like 3
up seq anno comments: EGF-like 4
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In LAD1.
up seq anno comments: Integrin beta
up seq anno comments: Integrin beta subunit VWA
up seq anno comments: Integrin beta subunit cytoplasmic
up seq anno comments: Integrin beta subunit tail
up seq anno comments: Integrin beta-2
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: PSI
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PKC
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by PKC/PRKCA; in vitro
up seq anno comments: Phosphothreonine; by PKC; in vitro
up seq anno comments: Polar residues
up seq anno comments: Pyrrolidone carboxylic acid
up seq anno comments: VWFA
up seq anno comments: in ADMIDAS binding site
up seq anno comments: in ADMIDAS binding site and liganded-open conformation
up seq anno comments: in ADMIDAS binding site and unliganded-closed conformation
up seq anno comments: in LIMBS binding site
up seq anno comments: in MIDAS binding site
up seq anno feature ids: PRO_0000016341
up seq anno feature ids: PRO_5019772092
up seq anno feature ids: VAR_003984

9606:LDHAL6B
gene id: 9606:LDHAL6B
uniprot id: A0A140VJM9
uniprot id: Q9BYZ2
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Variant
up seq anno comments: L-lactate dehydrogenase A-like 6B
up seq anno comments: Lactate/malate dehydrogenase C-terminal
up seq anno comments: Lactate/malate dehydrogenase N-terminal
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000168458
up seq anno feature ids: VAR_027936
up seq anno feature ids: VAR_027937
up seq anno feature ids: VAR_027938
up seq anno feature ids: VAR_049757

9606:ZNF300
gene id: 9606:ZNF300
uniprot id: Q96RE9
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 12
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: KRAB
up seq anno comments: Polar residues
up seq anno comments: Zinc finger protein 300
up seq anno feature ids: PRO_0000047521
up seq anno feature ids: VAR_012355
up seq anno feature ids: VSP_036830
up seq anno feature ids: VSP_036831
up seq anno feature ids: VSP_047506

9606:KIF14
gene id: 9606:KIF14
uniprot id: Q15058
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: FHA
up seq anno comments: In MCPH20; Decreased expression at the mRNA level and loss of localization at the midbody during cytokinesis and consequently loss of CIT/CRIK recruitment to the midbody, when analyzed in primary fibroblasts from a patient who is a compound heterozygous with variant D-849.
up seq anno comments: In MCPH20; Decreased expression at the mRNA level and loss of localization at the midbody during cytokinesis and consequently loss of CIT/CRIK recruitment to the midbody, when analyzed in primary fibroblasts from a patient who is a compound heterozygous with variant V-1221.
up seq anno comments: In MCPH20; drastically decreased expression at the mRNA level; loss of localization at the midbody during cytokinesis and consequently loss of CIT/CRIK recruitment to the midbody.
up seq anno comments: In MCPH20; unknown pathological significance.
up seq anno comments: Kinesin motor
up seq anno comments: Kinesin-like protein KIF14
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Required for CIT-binding
up seq anno comments: Required for PRC1-binding
up seq anno comments: Required for microtubule-binding with high affinity
up seq anno feature ids: PRO_0000125449
up seq anno feature ids: VAR_037777
up seq anno feature ids: VAR_080623
up seq anno feature ids: VAR_080624
up seq anno feature ids: VAR_080625
up seq anno feature ids: VAR_080626
up seq anno feature ids: VAR_080627
up seq anno feature ids: VAR_080628

9606:LEKR1
gene id: 9606:LEKR1
uniprot id: J3KP02
uniprot id: Q6ZMV7
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Region
up seq anno comments: Disordered
up seq anno comments: Protein LEKR1
up seq anno feature ids: PRO_0000325711

9606:ZFY
gene id: 9606:ZFY
uniprot id: P08048
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 12
up seq anno comments: C2H2-type 13
up seq anno comments: C2H2-type 2; atypical
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno comments: Zinc finger Y-chromosomal protein
up seq anno feature ids: PRO_0000047261
up seq anno feature ids: VSP_042774
up seq anno feature ids: VSP_042775
up seq anno feature ids: VSP_042824
up seq anno feature ids: VSP_042825
up seq anno feature ids: VSP_042826

9606:ALDOA
gene id: 9606:ALDOA
uniprot id: P04075
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Fructose-bisphosphate aldolase A
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: In GSD12.
up seq anno comments: In GSD12; likely benign variant; does not affect thermal stability; 4-fold decrease in catalytic efficiency due to reduced enzyme activity.
up seq anno comments: In GSD12; reduces thermal stability; 3-fold decrease in catalytic efficiency mostly due to reduced substrate affinity.
up seq anno comments: In GSD12; thermolabile.
up seq anno comments: In isoform 2.
up seq anno comments: N6-(2-hydroxyisobutyryl)lysine
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-malonyllysine
up seq anno comments: N6-malonyllysine; alternate
up seq anno comments: Necessary for preference for fructose 1,6-bisphosphate over fructose 1-phosphate
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Proton acceptor
up seq anno comments: Removed
up seq anno comments: Schiff-base intermediate with dihydroxyacetone-P
up seq anno feature ids: PRO_0000216936
up seq anno feature ids: VAR_000550
up seq anno feature ids: VAR_044142
up seq anno feature ids: VAR_044143
up seq anno feature ids: VAR_044144
up seq anno feature ids: VAR_048219
up seq anno feature ids: VAR_048220
up seq anno feature ids: VAR_085824
up seq anno feature ids: VSP_047261

9606:SPRED3
gene id: 9606:SPRED3
uniprot id: B9EKV1
uniprot id: Q2MJR0
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno comments: Asymmetric dimethylarginine
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: KBD
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: SPR
up seq anno comments: Sprouty-related, EVH1 domain-containing protein 3
up seq anno comments: WH1
up seq anno feature ids: PRO_0000247431
up seq anno feature ids: VSP_042949
up seq anno feature ids: VSP_042950

9606:TLR10
gene id: 9606:TLR10
uniprot id: Q9BXR5
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: LRR 1
up seq anno comments: LRR 10
up seq anno comments: LRR 11
up seq anno comments: LRR 12
up seq anno comments: LRR 13
up seq anno comments: LRR 14
up seq anno comments: LRR 15
up seq anno comments: LRR 2
up seq anno comments: LRR 3
up seq anno comments: LRR 4
up seq anno comments: LRR 5
up seq anno comments: LRR 6
up seq anno comments: LRR 7
up seq anno comments: LRR 8
up seq anno comments: LRR 9
up seq anno comments: LRRCT
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: TIR
up seq anno comments: Toll-like receptor 10
up seq anno feature ids: PRO_0000034739
up seq anno feature ids: VAR_024669
up seq anno feature ids: VAR_024670
up seq anno feature ids: VAR_024671
up seq anno feature ids: VAR_024672
up seq anno feature ids: VAR_024673
up seq anno feature ids: VAR_024674
up seq anno feature ids: VAR_028125
up seq anno feature ids: VAR_028126
up seq anno feature ids: VAR_028127
up seq anno feature ids: VAR_028128
up seq anno feature ids: VAR_028129
up seq anno feature ids: VAR_028130
up seq anno feature ids: VAR_028131
up seq anno feature ids: VAR_059832
up seq anno feature ids: VAR_059833
up seq anno feature ids: VAR_059834
up seq anno feature ids: VAR_059835

9606:BBS9
gene id: 9606:BBS9
uniprot id: A0A090N7W2
uniprot id: A0A090N8P4
uniprot id: A0A5F9ZGY2
uniprot id: A0A5F9ZH14
uniprot id: A0A5F9ZH74
uniprot id: Q3SYG4
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Critical for protein stability
up seq anno comments: Disordered
up seq anno comments: Fails to restore protein stability; when associated with pathogenic variant BBS9 R-141.
up seq anno comments: In BBS9; severe loss of protein stability, probably due to aberrant folding.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: In isoform 7.
up seq anno comments: Interaction with LZTL1
up seq anno comments: PTHB1 C-terminal
up seq anno comments: PTHB1 N-terminal
up seq anno comments: Protein PTHB1
up seq anno comments: Seven-bladed beta-propeller
up seq anno feature ids: PRO_0000235269
up seq anno feature ids: VAR_026389
up seq anno feature ids: VAR_026390
up seq anno feature ids: VAR_051289
up seq anno feature ids: VAR_051290
up seq anno feature ids: VAR_051291
up seq anno feature ids: VAR_066292
up seq anno feature ids: VAR_066293
up seq anno feature ids: VAR_066294
up seq anno feature ids: VSP_018421
up seq anno feature ids: VSP_018422
up seq anno feature ids: VSP_018423
up seq anno feature ids: VSP_018424
up seq anno feature ids: VSP_018425
up seq anno feature ids: VSP_018426
up seq anno feature ids: VSP_018427
up seq anno feature ids: VSP_018428
up seq anno feature ids: VSP_054063

9606:GABRA5
gene id: 9606:GABRA5
uniprot id: P31644
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Gamma-aminobutyric acid receptor subunit alpha-5
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Helical
up seq anno comments: In DEE79; decreased subcellular localization to the cell membrane resulting in altered protein localization to the synapse and altered gamma-aminobutyric acid signaling pathway.
up seq anno comments: In DEE79; decreased subcellular localization to the cell membrane resulting in altered protein localization to the synapse and altered gamma-aminobutyric acid signaling pathway; the mutant subunit decreases the trafficking of the partnering GABRB3 subunit to the cell membrane with no effect on other subunits.
up seq anno comments: In DEE79; increased affinity to GABA; decreased maximal GABA-evoked current density.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000000444
up seq anno feature ids: VAR_083201
up seq anno feature ids: VAR_083202
up seq anno feature ids: VAR_083203

9606:PPARG
gene id: 9606:PPARG
uniprot id: A0A494C1F9
uniprot id: D2KUA6
uniprot id: E9PFV2
uniprot id: E9PFX5
uniprot id: P37231
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: 9aaTAD
up seq anno comments: In FPLD3.
up seq anno comments: In colon cancer; sporadic; somatic mutation; loss of ligand-binding.
up seq anno comments: In colon cancer; sporadic; somatic mutation; partial loss of ligand-binding.
up seq anno comments: In diabetes.
up seq anno comments: In isoform 1 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: In obesity.
up seq anno comments: Interaction with FAM120B
up seq anno comments: NR C4-type
up seq anno comments: NR LBD
up seq anno comments: Nuclear receptor
up seq anno comments: O-linked (GlcNAc) threonine
up seq anno comments: Peroxisome proliferator-activated receptor gamma
up seq anno comments: Phosphoserine
up seq anno comments: Significant independent determinant of CIMT; may protect from early atherosclerosis in subject at risk for diabetes; associated with BMI.
up seq anno feature ids: PRO_0000053492
up seq anno feature ids: VAR_010723
up seq anno feature ids: VAR_010724
up seq anno feature ids: VAR_010725
up seq anno feature ids: VAR_010726
up seq anno feature ids: VAR_010727
up seq anno feature ids: VAR_010728
up seq anno feature ids: VAR_016116
up seq anno feature ids: VAR_022700
up seq anno feature ids: VAR_022701
up seq anno feature ids: VSP_003645
up seq anno feature ids: VSP_043906
up seq anno feature ids: VSP_043907

9606:ACVR1
gene id: 9606:ACVR1
uniprot id: D3DPA4
uniprot id: Q04771
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Activin receptor type-1
up seq anno comments: Almost complete loss of alcaline phosphatase induction; in association with A-325.
up seq anno comments: Almost complete loss of alcaline phosphatase induction; in association with V-203.
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: GS
up seq anno comments: Helical
up seq anno comments: In FOP.
up seq anno comments: In FOP; variant phenotype.
up seq anno comments: In FOP; with some atypical features.
up seq anno comments: In a melanoma sample; somatic mutation.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Serine/threonine-protein kinase receptor
up seq anno comments: Strong induction of SMAD1 phosphorylation.
up seq anno feature ids: PRO_0000024394
up seq anno feature ids: PRO_5014302489
up seq anno feature ids: VAR_028444
up seq anno feature ids: VAR_041392
up seq anno feature ids: VAR_041393
up seq anno feature ids: VAR_041394
up seq anno feature ids: VAR_041395
up seq anno feature ids: VAR_058418
up seq anno feature ids: VAR_058419
up seq anno feature ids: VAR_058420
up seq anno feature ids: VAR_058421
up seq anno feature ids: VAR_058422
up seq anno feature ids: VAR_058423
up seq anno feature ids: VAR_058424
up seq anno feature ids: VAR_058425

9606:AADACL2
gene id: 9606:AADACL2
uniprot id: Q6P093
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Motif
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Arylacetamide deacetylase-like 2
up seq anno comments: In isoform 2.
up seq anno comments: Involved in the stabilization of the negatively charged intermediate by the formation of the oxyanion hole
up seq anno feature ids: PRO_0000314960
up seq anno feature ids: VAR_038140
up seq anno feature ids: VAR_038141
up seq anno feature ids: VSP_038389
up seq anno feature ids: VSP_038390

9606:RHBDL1
gene id: 9606:RHBDL1
uniprot id: O75783
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Nucleophile
up seq anno comments: Rhomboid-related protein 1
up seq anno feature ids: PRO_0000206173
up seq anno feature ids: VSP_005372

9606:GSN
gene id: 9606:GSN
uniprot id: A0A0A0MS51
uniprot id: A0A0A0MT01
uniprot id: A0A384MEF1
uniprot id: B7Z4U6
uniprot id: P06396
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Actin-actin interfilament contact point
up seq anno comments: Actin-binding, Ca-sensitive
up seq anno comments: Actin-severing
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Does not result in actin depolymerization activity in absence of calcium. Has actin depolymerization activity in absence of calcium; when associated with N-214 and N-697 or N-214, N-697 and Q-719.
up seq anno comments: Does not result in actin depolymerization activity in absence of calcium. Has actin depolymerization activity in absence of calcium; when associated with N-214 and N-697 or N-214, Q-236 and N-697.
up seq anno comments: Does not result in actin depolymerization activity in absence of calcium. Has actin depolymerization activity in absence of calcium; when associated with N-214 and Q-236, N-214 and Q-719 or N-214, Q-236 and Q-719.
up seq anno comments: Gelsolin
up seq anno comments: Gelsolin-like
up seq anno comments: Gelsolin-like 1
up seq anno comments: Gelsolin-like 2
up seq anno comments: Gelsolin-like 3
up seq anno comments: Gelsolin-like 4
up seq anno comments: Gelsolin-like 5
up seq anno comments: Gelsolin-like 6
up seq anno comments: In AMYL5.
up seq anno comments: In AMYL5; does not result in actin depolymerization in absence of calcium.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 1
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine; by SRC
up seq anno comments: Phosphotyrosine; by SRC; in vitro
up seq anno feature ids: PRO_0000036385
up seq anno feature ids: PRO_5017394095
up seq anno feature ids: VAR_007718
up seq anno feature ids: VAR_007719
up seq anno feature ids: VAR_024690
up seq anno feature ids: VAR_033958
up seq anno feature ids: VAR_036337
up seq anno feature ids: VAR_036338
up seq anno feature ids: VAR_036339

9606:OCIAD1
gene id: 9606:OCIAD1
uniprot id: Q9NX40
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 4.
up seq anno comments: OCIA
up seq anno comments: OCIA domain-containing protein 1
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000299382
up seq anno feature ids: VSP_027621
up seq anno feature ids: VSP_027622
up seq anno feature ids: VSP_046212

9606:PRKAB1
gene id: 9606:PRKAB1
uniprot id: Q9Y478
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Strand
up seq anno comments: 5'-AMP-activated protein kinase subunit beta-1
up seq anno comments: Abolishes myristoylation and AMP-enhanced phosphorylation of PRKAA1 or PRKAA2.
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Glycogen-binding domain
up seq anno comments: N-myristoyl glycine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by autocatalysis
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000204363

9606:H4C8
gene id: 9606:H4C8
uniprot id: B2R4R0
uniprot id: P62805
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolished ufmylation.
up seq anno comments: Asymmetric dimethylarginine; by PRMT1; alternate
up seq anno comments: Citrulline; alternate
up seq anno comments: Disordered
up seq anno comments: Found in a patient with a neurodevelopmental disorder; unknown pathological significance.
up seq anno comments: Found in a patient with a neurodevelopmental disorder; unknown pathological significance; results in early developmental defects when expressed in zebrafish embryos.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in UFM1); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
up seq anno comments: Histone H4
up seq anno comments: Impaired methylation by N6AMT1.
up seq anno comments: In TEBIVANED1.
up seq anno comments: In TEBIVANED1; results in severe early developmental defects when expressed in zebrafish embryos; results in defective cell cycle progression when expressed in zebrafish embryos.
up seq anno comments: In TEBIVANED2 and TEBIVANED3; unknown pathological significance; does not affect early development when expressed in zebrafish embryos.
up seq anno comments: In TEBIVANED2; results in severe early developmental defects when expressed in zebrafish embryos.
up seq anno comments: In TEBIVANED3.
up seq anno comments: In TEBIVANED3; results in early developmental defects when expressed in zebrafish embryos.
up seq anno comments: In TEBIVANED4; results in early developmental defects when expressed in zebrafish embryos.
up seq anno comments: In TEBIVANED4; results in severe early developmental defects when expressed in zebrafish embryos.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: N-acetylserine
up seq anno comments: N6,N6,N6-trimethyllysine; alternate
up seq anno comments: N6,N6-dimethyllysine; alternate
up seq anno comments: N6-(2-hydroxyisobutyryl)lysine; alternate
up seq anno comments: N6-(beta-hydroxybutyryl)lysine; alternate
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-butyryllysine; alternate
up seq anno comments: N6-crotonyllysine; alternate
up seq anno comments: N6-glutaryllysine; alternate
up seq anno comments: N6-lactoyllysine; alternate
up seq anno comments: N6-methyllysine; alternate
up seq anno comments: N6-propionyllysine; alternate
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: Omega-N-methylarginine; by PRMT1; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PAK2
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Removed
up seq anno comments: Symmetric dimethylarginine; by PRMT5 and PRMT7; alternate
up seq anno comments: TATA box binding protein associated factor (TAF) histone-like fold
up seq anno feature ids: PRO_0000158320
up seq anno feature ids: VAR_036206
up seq anno feature ids: VAR_086990
up seq anno feature ids: VAR_086991
up seq anno feature ids: VAR_086992

9606:RNF41
gene id: 9606:RNF41
uniprot id: Q9H4P4
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: E3 ubiquitin-protein ligase NRDP1
up seq anno comments: In isoform 2.
up seq anno comments: Loss of activity.
up seq anno comments: Loss of activity; when associated with Q-36.
up seq anno comments: Loss of activity; when associated with S-34.
up seq anno comments: RING-type; degenerate
up seq anno comments: SIAH-type; degenerate
up seq anno feature ids: PRO_0000223954
up seq anno feature ids: VSP_044670

9606:TDRD15
gene id: 9606:TDRD15
uniprot id: B5MCY1
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno comments: Disordered
up seq anno comments: Tudor 1
up seq anno comments: Tudor 2
up seq anno comments: Tudor 3
up seq anno comments: Tudor 4
up seq anno comments: Tudor 5
up seq anno comments: Tudor 6
up seq anno comments: Tudor 7
up seq anno comments: Tudor 8
up seq anno comments: Tudor domain-containing protein 15
up seq anno feature ids: PRO_0000421965

9606:DMRTB1
gene id: 9606:DMRTB1
uniprot id: I6L9A0
uniprot id: Q96MA1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Region
up seq anno comments: DM
up seq anno comments: Disordered
up seq anno comments: Doublesex- and mab-3-related transcription factor B1
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000316012

9606:SETDB2
gene id: 9606:SETDB2
uniprot id: Q96T68
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Histone-lysine N-methyltransferase SETDB2
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: MBD
up seq anno comments: Pre-SET
up seq anno comments: SET
up seq anno feature ids: PRO_0000186088
up seq anno feature ids: VAR_016976
up seq anno feature ids: VAR_031282
up seq anno feature ids: VSP_008413
up seq anno feature ids: VSP_024034

9606:PDE8B
gene id: 9606:PDE8B
uniprot id: B3KN77
uniprot id: O95263
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B
up seq anno comments: In PPNAD3; shows significantly higher cyclic AMP levels after transfection with the mutant protein than after transfection with the wild-type, indicating an impaired ability of the mutant protein to degrade cAMP.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: PAS
up seq anno comments: PDEase
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Proton donor
up seq anno feature ids: PRO_0000198840
up seq anno feature ids: VAR_066503
up seq anno feature ids: VSP_008081
up seq anno feature ids: VSP_008082
up seq anno feature ids: VSP_008083
up seq anno feature ids: VSP_008084
up seq anno feature ids: VSP_008085

9606:ZNF787
gene id: 9606:ZNF787
uniprot id: Q6DD87
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Pro residues
up seq anno comments: Zinc finger protein 787
up seq anno feature ids: PRO_0000287606
up seq anno feature ids: VAR_032336

9606:XKR4
gene id: 9606:XKR4
uniprot id: Q5GH76
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Site
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Site
up seq anno labels: Transmembrane
up seq anno comments: Cleavage; by caspase-3, caspase-6 and caspase-7
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: XK-related protein 4
up seq anno comments: XK-related protein 4, processed form
up seq anno feature ids: PRO_0000190777
up seq anno feature ids: PRO_0000453289

9606:TMEM52
gene id: 9606:TMEM52
uniprot id: Q8NDY8
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Transmembrane protein 52
up seq anno feature ids: PRO_0000284057
up seq anno feature ids: VAR_031653
up seq anno feature ids: VAR_051448
up seq anno feature ids: VSP_024420

9606:CXCL10
gene id: 9606:CXCL10
uniprot id: P02778
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Mass
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Helix
up seq anno labels: Mass
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: C-X-C motif chemokine 10
up seq anno comments: CXCL10(1-73)
up seq anno comments: Citrulline; by PAD2
up seq anno feature ids: PRO_0000005101
up seq anno feature ids: PRO_0000005102

9606:CGREF1
gene id: 9606:CGREF1
uniprot id: Q99674
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: 1
up seq anno comments: 2
up seq anno comments: 3
up seq anno comments: 4 X 17 AA approximate tandem repeats of P-G-P-R-G-E-A-G-G-Q-A-E-A-[KR]-G-D-A
up seq anno comments: 4; approximate
up seq anno comments: Basic and acidic residues
up seq anno comments: Cell growth regulator with EF hand domain protein 1
up seq anno comments: Disordered
up seq anno comments: EF-hand 1
up seq anno comments: EF-hand 2
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno feature ids: PRO_0000073874
up seq anno feature ids: VAR_047648
up seq anno feature ids: VAR_047649
up seq anno feature ids: VAR_047650
up seq anno feature ids: VAR_061088
up seq anno feature ids: VAR_081928
up seq anno feature ids: VAR_081929
up seq anno feature ids: VAR_081930
up seq anno feature ids: VSP_060232
up seq anno feature ids: VSP_060233
up seq anno feature ids: VSP_060234
up seq anno feature ids: VSP_060235
up seq anno feature ids: VSP_060236

9606:EIF3B
gene id: 9606:EIF3B
uniprot id: P55884
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Mass
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Mass
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Eukaryotic translation initiation factor 3 subunit B
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylmethionine
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: RRM
up seq anno comments: Sufficient for interaction with EIF3E
up seq anno comments: Sufficient for interaction with EIF3J
up seq anno comments: WD 1
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno comments: WD 7
up seq anno comments: WD 8
up seq anno feature ids: PRO_0000123531
up seq anno feature ids: VAR_047972
up seq anno feature ids: VAR_047973
up seq anno feature ids: VSP_017274

9606:PDYN
gene id: 9606:PDYN
uniprot id: P01213
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Peptide
up seq anno parent labels: Propeptide
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno labels: Peptide
up seq anno labels: Propeptide
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno comments: Alpha-neoendorphin
up seq anno comments: Beta-neoendorphin
up seq anno comments: Big dynorphin
up seq anno comments: Dynorphin A(1-13)
up seq anno comments: Dynorphin A(1-17)
up seq anno comments: Dynorphin A(1-8)
up seq anno comments: In SCA23.
up seq anno comments: In SCA23; PDYN, dynorphin A and dynorphin B are located in Purkinje cells as observed in control cerebellum, but cerebellar tissue with the mutation has decreased levels of SLC1A6 and CALB1, both of which are markers of Purkinje cells; SLC1A6 accumulates and aggregates in patient cerebellar tissue.
up seq anno comments: In SCA23; the mutant PDYN protein is produced, but processing to opioid peptides is dramatically affected, resulting in an approximately 2-fold decreased level of dynorphin B compared to dynorphin A; mutant dynorphin A is neurotoxic to cultured striatal neurons, suggesting a dominant-negative effect; disrupts membrane property.
up seq anno comments: In SCA23; the mutant PDYN protein is produced, but processing to opioid peptides is dramatically affected, with increased levels of dynorphin A compared to dynorphin B; mutant dynorphin A is neurotoxic to cultured striatal neurons, suggesting a dominant-negative effect; disrupts membrane property.
up seq anno comments: In SCA23; the mutant PDYN protein is produced, but processing to opioid peptides is dramatically affected, with increased levels of dynorphin A compared to dynorphin B; these results suggest slow conversion of dynorphin A to short enkephalins; mutant S-211 dynorphin A is not neurotoxic to cultured striatal neurons; no effect on membrane property.
up seq anno comments: Leu-enkephalin
up seq anno comments: Leumorphin
up seq anno comments: Rimorphin
up seq anno feature ids: PRO_0000008176
up seq anno feature ids: PRO_0000008177
up seq anno feature ids: PRO_0000008178
up seq anno feature ids: PRO_0000008179
up seq anno feature ids: PRO_0000008180
up seq anno feature ids: PRO_0000008181
up seq anno feature ids: PRO_0000008182
up seq anno feature ids: PRO_0000306347
up seq anno feature ids: PRO_0000306348
up seq anno feature ids: PRO_0000306349
up seq anno feature ids: PRO_0000306350
up seq anno feature ids: PRO_0000306351
up seq anno feature ids: PRO_0000306352
up seq anno feature ids: VAR_064913
up seq anno feature ids: VAR_064914
up seq anno feature ids: VAR_064915
up seq anno feature ids: VAR_064916
up seq anno feature ids: VAR_072266
up seq anno feature ids: VAR_072267
up seq anno feature ids: VAR_072268
up seq anno feature ids: VAR_072269
up seq anno feature ids: VAR_072270

9606:MAGEB3
gene id: 9606:MAGEB3
uniprot id: O15480
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: MAGE
up seq anno comments: Melanoma-associated antigen B3
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000156714
up seq anno feature ids: VAR_021360
up seq anno feature ids: VAR_021361

9606:RYBP
gene id: 9606:RYBP
uniprot id: Q8N488
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Strand
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Interaction with GABPB1 and FANK1
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: RING1 and YY1-binding protein
up seq anno comments: RanBP2-type
up seq anno feature ids: PRO_0000097550

9606:RIT1
gene id: 9606:RIT1
uniprot id: Q92963
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Constitutively active. Dramatic reduction of the rate of GTP hydrolysis. Loss of interaction with AFDN, RLF and RALGDS; when associated with S-53. Loss of interaction with AFDN; when associated with G-55.
up seq anno comments: Disordered
up seq anno comments: Dominant negative. Loss of interaction with AFDN, RLF and RALGDS.
up seq anno comments: GTP-binding protein Rit1
up seq anno comments: In NS8; results in increased ELK1 transcriptional activation.
up seq anno comments: In NS8; results in increased ELK1 transcriptional activation; results in increased MAPK-ERK signaling.
up seq anno comments: In NS8; results in increased MAPK-ERK signaling.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of interaction with AFDN, RLF and RALGDS; when associated with L-79.
up seq anno comments: Loss of interaction with AFDN, but not with RLF and RALGDS; when associated with L-79.
up seq anno comments: Probable disease-associated variant found in patients with features of Noonan syndrome.
up seq anno feature ids: PRO_0000082725
up seq anno feature ids: VAR_070149
up seq anno feature ids: VAR_070150
up seq anno feature ids: VAR_070151
up seq anno feature ids: VAR_070152
up seq anno feature ids: VAR_070153
up seq anno feature ids: VAR_070154
up seq anno feature ids: VAR_070155
up seq anno feature ids: VAR_070156
up seq anno feature ids: VAR_070157
up seq anno feature ids: VSP_045306
up seq anno feature ids: VSP_047114

9606:OAS3
gene id: 9606:OAS3
uniprot id: Q9Y6K5
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 2'-5'-oligoadenylate synthase 3
up seq anno comments: Abolishes catalytic activity.
up seq anno comments: Impaired dsRNA binding.
up seq anno comments: Interaction with dsRNA
up seq anno comments: Linker
up seq anno comments: N-acetylmethionine
up seq anno comments: No effect on catalytic activity. No effect on catalytic activity; when associated with D-76.
up seq anno comments: No effect on catalytic activity; when associated with D-145.
up seq anno comments: OAS domain 1
up seq anno comments: OAS domain 2
up seq anno comments: OAS domain 3
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000160265
up seq anno feature ids: VAR_057660
up seq anno feature ids: VAR_057661
up seq anno feature ids: VAR_057662
up seq anno feature ids: VAR_060076
up seq anno feature ids: VAR_060077
up seq anno feature ids: VAR_060078
up seq anno feature ids: VAR_062127

9606:C1QTNF8
gene id: 9606:C1QTNF8
uniprot id: A0A3B0IWW5
uniprot id: P60827
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Signal Peptide
up seq anno comments: C1q
up seq anno comments: Collagen-like
up seq anno comments: Complement C1q tumor necrosis factor-related protein 8
up seq anno comments: Disordered
up seq anno feature ids: PRO_0000003541
up seq anno feature ids: PRO_5035366277

9606:MRPS25
gene id: 9606:MRPS25
uniprot id: P82663
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: In COXPD50; severe reduction of MRPS25 protein levels resulting in destabilization of the entire small ribosomal subunit and a decrease of mitochondrial translation rate; causes oxidative phosphorylation defects in patient cells.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Small ribosomal subunit protein mS25
up seq anno feature ids: PRO_0000087708
up seq anno feature ids: VAR_084766
up seq anno feature ids: VSP_056422
up seq anno feature ids: VSP_056423
up seq anno feature ids: VSP_056424

9606:MTFMT
gene id: 9606:MTFMT
uniprot id: Q96DP5
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transit Peptide
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transit Peptide
up seq anno comments: In COXPD15 and MC1DN27; decreased methionyl-tRNA formyltransferase activity.
up seq anno comments: In COXPD15; loss of methionyl-tRNA formyltransferase activity.
up seq anno comments: In MC1DN27.
up seq anno comments: In isoform 2.
up seq anno comments: Methionyl-tRNA formyltransferase, mitochondrial
up seq anno comments: Mitochondrion
up seq anno feature ids: PRO_0000010093
up seq anno feature ids: VAR_059289
up seq anno feature ids: VAR_069303
up seq anno feature ids: VAR_069304
up seq anno feature ids: VAR_081461
up seq anno feature ids: VSP_057059
up seq anno feature ids: VSP_057060

9606:SLC7A6OS
gene id: 9606:SLC7A6OS
uniprot id: Q96CW6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In EPM12; due to a nucleotide substitution that can result in aberrant splicing; patient cells contain both normally spliced transcripts and transcripts that retained intron 1; marked reduction of protein expression in patient cells.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Probable RNA polymerase II nuclear localization protein SLC7A6OS
up seq anno feature ids: PRO_0000289169
up seq anno feature ids: VAR_032591
up seq anno feature ids: VAR_032592
up seq anno feature ids: VAR_032593
up seq anno feature ids: VAR_032594
up seq anno feature ids: VAR_085257

9606:PRKCA
gene id: 9606:PRKCA
uniprot id: L7RSM7
uniprot id: P17252
uniprot id: Q7Z727
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: AGC-kinase C-terminal
up seq anno comments: Basic and acidic residues
up seq anno comments: C2
up seq anno comments: Disordered
up seq anno comments: In a colorectal adenocarcinoma sample; somatic mutation.
up seq anno comments: In a glioblastoma multiforme sample; somatic mutation.
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: Phorbol-ester/DAG-type
up seq anno comments: Phorbol-ester/DAG-type 1
up seq anno comments: Phorbol-ester/DAG-type 2
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by PDPK1
up seq anno comments: Phosphothreonine; by autocatalysis
up seq anno comments: Phosphotyrosine; by SYK
up seq anno comments: Pro residues
up seq anno comments: Protein kinase
up seq anno comments: Protein kinase C alpha type
up seq anno comments: Proton acceptor
up seq anno comments: Removed
up seq anno feature ids: PRO_0000055679
up seq anno feature ids: VAR_042301
up seq anno feature ids: VAR_042302
up seq anno feature ids: VAR_042303
up seq anno feature ids: VAR_050558

9606:MYBBP1A
gene id: 9606:MYBBP1A
uniprot id: Q9BQG0
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Citrulline
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with MYB
up seq anno comments: Myb-binding protein 1A
up seq anno comments: N6-acetyllysine
up seq anno comments: Nuclear export signal 1
up seq anno comments: Nuclear export signal 2
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Required for nuclear and nucleolar localization
up seq anno feature ids: PRO_0000096255
up seq anno feature ids: VAR_023064
up seq anno feature ids: VAR_051156
up seq anno feature ids: VAR_051157
up seq anno feature ids: VAR_051158
up seq anno feature ids: VSP_014786

9606:APOC3
gene id: 9606:APOC3
uniprot id: A3KPE2
uniprot id: P02656
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Turn
up seq anno comments: Apolipoprotein C-III
up seq anno comments: In C-III-0; unglycosylated.
up seq anno comments: In HALP2.
up seq anno comments: Lipid-binding
up seq anno comments: May interact with the LDL receptor
up seq anno comments: O-linked (GalNAc...) threonine
up seq anno feature ids: CAR_000168
up seq anno feature ids: PRO_0000002031
up seq anno feature ids: PRO_5014296858
up seq anno feature ids: VAR_000643
up seq anno feature ids: VAR_000644

9606:IZUMO4
gene id: 9606:IZUMO4
uniprot id: Q1ZYL8
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Izumo sperm-egg fusion protein 4
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000278186
up seq anno feature ids: VAR_030683
up seq anno feature ids: VAR_050911
up seq anno feature ids: VAR_061630
up seq anno feature ids: VSP_023147
up seq anno feature ids: VSP_023148
up seq anno feature ids: VSP_023149
up seq anno feature ids: VSP_023150

9606:ZNF394
gene id: 9606:ZNF394
uniprot id: Q53GI3
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: KRAB
up seq anno comments: Phosphoserine
up seq anno comments: SCAN box
up seq anno comments: Zinc finger protein 394
up seq anno feature ids: PRO_0000047557
up seq anno feature ids: VAR_052816
up seq anno feature ids: VSP_056547
up seq anno feature ids: VSP_056548

9606:C8orf88
gene id: 9606:C8orf88
uniprot id: P0DMB2
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Region
up seq anno comments: Disordered
up seq anno comments: Uncharacterized protein C8orf88
up seq anno feature ids: PRO_0000425157

9606:SUB1
gene id: 9606:SUB1
uniprot id: P53999
uniprot id: Q6IBA2
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Mass
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Mass
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Strand
up seq anno comments: Activated RNA polymerase II transcriptional coactivator p15
up seq anno comments: Basic and acidic residues
up seq anno comments: Cleavage
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: Interaction with ssDNA
up seq anno comments: Loss of ssDNA binding.
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Reduced ssDNA binding.
up seq anno comments: Regulatory
up seq anno comments: Removed
up seq anno comments: Transcriptional coactivator p15 (PC4) C-terminal
up seq anno feature ids: PRO_0000215944
up seq anno feature ids: VAR_032870

9606:CDK6
gene id: 9606:CDK6
uniprot id: Q00534
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Cyclin-dependent kinase 6
up seq anno comments: In MCPH12.
up seq anno comments: In a metastatic melanoma sample; somatic mutation.
up seq anno comments: N-acetylmethionine
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000085789
up seq anno feature ids: VAR_041978
up seq anno feature ids: VAR_041979
up seq anno feature ids: VAR_072638

9606:HRCT1
gene id: 9606:HRCT1
uniprot id: Q6UXD1
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: Histidine-rich carboxyl terminus protein 1
up seq anno feature ids: PRO_0000317638

9606:GIMAP2
gene id: 9606:GIMAP2
uniprot id: A0A090N8H4
uniprot id: Q9UG22
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: AIG1-type G
up seq anno comments: Abolishes GTP-induced dimerization.
up seq anno comments: G1
up seq anno comments: G2
up seq anno comments: G3
up seq anno comments: G4
up seq anno comments: G5
up seq anno comments: GTPase IMAP family member 2
up seq anno comments: Helical
up seq anno feature ids: PRO_0000190986
up seq anno feature ids: VAR_017305
up seq anno feature ids: VAR_049531
up seq anno feature ids: VAR_049532

9606:WDR12
gene id: 9606:WDR12
uniprot id: Q53T99
uniprot id: Q9GZL7
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes interaction with MDN1.
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)
up seq anno comments: N-acetylalanine
up seq anno comments: NLE
up seq anno comments: Phosphoserine
up seq anno comments: Reduces interaction with MDN1.
up seq anno comments: Removed
up seq anno comments: Ribosome biogenesis protein WDR12
up seq anno comments: Sufficient for nucleolar localization
up seq anno comments: Ubiquitin-like (UBL) domain
up seq anno comments: WD
up seq anno comments: WD 1
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno comments: WD 7
up seq anno feature ids: PRO_0000051358
up seq anno feature ids: VAR_012863
up seq anno feature ids: VAR_012864
up seq anno feature ids: VAR_012865
up seq anno feature ids: VAR_054888

9606:FCER1G
gene id: 9606:FCER1G
uniprot id: P30273
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: High affinity immunoglobulin epsilon receptor subunit gamma
up seq anno comments: ITAM
up seq anno comments: Interchain
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno feature ids: PRO_0000016501

9606:EID2
gene id: 9606:EID2
uniprot id: Q8N6I1
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: EP300-interacting inhibitor of differentiation 2
up seq anno comments: In isoform 2.
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000315901
up seq anno feature ids: VAR_038351
up seq anno feature ids: VAR_050964
up seq anno feature ids: VSP_052648

9606:ARL8B
gene id: 9606:ARL8B
uniprot id: Q9NVJ2
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: INTRAMEM
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Helix
up seq anno labels: INTRAMEM
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: ADP-ribosylation factor-like protein 8B
up seq anno comments: Abolished ubiquitination by RNF167.
up seq anno comments: Alters chromosome segregation.
up seq anno comments: Diffuse cytoplasmic distribution and loss of localization to lysosomes. No effect on acetylation.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: In isoform 2.
up seq anno comments: Loss of GTP/GDP-binding. Affects chromosome segregation.
up seq anno comments: N-acetylmethionine
up seq anno comments: No effect on localization and acetylation.
up seq anno comments: Note=Mediates targeting to membranes
up seq anno comments: Preferentially binds GDP. Alters chromosome segregation. Decreases interaction with VPS41. Loss of lysosomal location. Loss of interaction with PLEKHM1.
up seq anno comments: Preferentially binds GTP.
up seq anno comments: Prevents GTP hydrolysis. No effect on lysosomal location. Alters lysosomes cellular distribution and motility. Increases interaction with VPS41. No effect on interaction with PLEKHM1.
up seq anno feature ids: PRO_0000232921
up seq anno feature ids: VSP_056238

9606:AACS
gene id: 9606:AACS
uniprot id: Q86V21
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Acetoacetyl-CoA synthetase
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno feature ids: PRO_0000315784
up seq anno feature ids: VAR_038303
up seq anno feature ids: VAR_060997
up seq anno feature ids: VSP_030701
up seq anno feature ids: VSP_030702

9606:RPL7
gene id: 9606:RPL7
uniprot id: P18124
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno comments: 1
up seq anno comments: 2
up seq anno comments: 3
up seq anno comments: 4
up seq anno comments: 4 X 12 AA tandem repeats
up seq anno comments: Large ribosomal subunit protein uL30
up seq anno comments: N-acetylmethionine
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-succinyllysine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno feature ids: PRO_0000104633

9606:ARR3
gene id: 9606:ARR3
uniprot id: P36575
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Arrestin-C
up seq anno comments: In MYP26; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000205203
up seq anno feature ids: VAR_025520
up seq anno feature ids: VAR_080595
up seq anno feature ids: VAR_080596
up seq anno feature ids: VAR_080597
up seq anno feature ids: VSP_017495

9606:HIC2
gene id: 9606:HIC2
uniprot id: Q96JB3
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: BTB
up seq anno comments: Binding to CtBP
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: Disordered
up seq anno comments: Hypermethylated in cancer 2 protein
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000046945
up seq anno feature ids: VSP_006829

9606:OR51F1
gene id: 9606:OR51F1
uniprot id: A6NLW9
up seq anno parent labels: Domain Extent
up seq anno parent labels: Region
up seq anno parent labels: Transmembrane
up seq anno labels: Domain Extent
up seq anno labels: Transmembrane
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical

9606:KIF22
gene id: 9606:KIF22
uniprot id: B7Z9T5
uniprot id: Q14807
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In SEMDJL2.
up seq anno comments: In isoform 2.
up seq anno comments: Kinesin motor
up seq anno comments: Kinesin-like protein KIF22
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000125433
up seq anno feature ids: VAR_067345
up seq anno feature ids: VAR_067346
up seq anno feature ids: VAR_067347
up seq anno feature ids: VAR_067348
up seq anno feature ids: VAR_067349
up seq anno feature ids: VSP_046428

9606:MS4A5
gene id: 9606:MS4A5
uniprot id: Q9H3V2
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: Membrane-spanning 4-domains subfamily A member 5
up seq anno feature ids: PRO_0000158637
up seq anno feature ids: VAR_036402

9606:MINDY1
gene id: 9606:MINDY1
uniprot id: Q8N5J2
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes ubiquitin hydrolase activity.
up seq anno comments: Basic and acidic residues
up seq anno comments: Decreased association with 'Lys-48'-linked conjugated ubiquitin.
up seq anno comments: Decreased binding to 'Lys-48' tetraubiquitin chains.
up seq anno comments: Disordered
up seq anno comments: Greatly impairs ubiquitin hydrolase activity.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Loss of binding to 'Lys-48' tetraubiquitin chains.
up seq anno comments: No effect on binding to 'Lys-48' tetraubiquitin chains.
up seq anno comments: Nucleophile
up seq anno comments: Phosphoserine
up seq anno comments: Proton acceptor
up seq anno comments: Ubiquitin carboxyl-terminal hydrolase MINDY-1
up seq anno comments: Ubiquitin-binding
up seq anno comments: Ubiquitin-binding domain (UBD)
up seq anno feature ids: PRO_0000344037
up seq anno feature ids: VAR_044541
up seq anno feature ids: VSP_034715
up seq anno feature ids: VSP_037076
up seq anno feature ids: VSP_037077

9606:TMEM30B
gene id: 9606:TMEM30B
uniprot id: Q3MIR4
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cell cycle control protein 50B
up seq anno comments: Cytoplasmic
up seq anno comments: Exoplasmic loop
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000244474

9606:ACSM1
gene id: 9606:ACSM1
uniprot id: B2RAP4
uniprot id: Q08AH1
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transit Peptide
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transit Peptide
up seq anno comments: AMP-binding enzyme C-terminal
up seq anno comments: AMP-dependent synthetase/ligase
up seq anno comments: Acyl-coenzyme A synthetase ACSM1, mitochondrial
up seq anno comments: In isoform 2.
up seq anno comments: Mitochondrion
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-succinyllysine
up seq anno comments: N6-succinyllysine; alternate
up seq anno feature ids: PRO_0000306091
up seq anno feature ids: VAR_035245
up seq anno feature ids: VAR_035246
up seq anno feature ids: VAR_048238
up seq anno feature ids: VSP_028391

9606:S1PR2
gene id: 9606:S1PR2
uniprot id: O95136
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Lipid Binding
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: In DFNB68.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: S-palmitoyl cysteine
up seq anno comments: Sphingosine 1-phosphate receptor 2
up seq anno feature ids: PRO_0000069427
up seq anno feature ids: VAR_076391
up seq anno feature ids: VAR_076392

9606:AGPS
gene id: 9606:AGPS
uniprot id: B7Z3Q4
uniprot id: O00116
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Transit Peptide
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Transit Peptide
up seq anno comments: Alkyldihydroxyacetonephosphate synthase, peroxisomal
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: FAD-binding PCMH-type
up seq anno comments: Important for enzyme activity
up seq anno comments: In RCDP3.
up seq anno comments: In RCDP3; does not affect protein levels.
up seq anno comments: In RCDP3; loss of enzyme activity.
up seq anno comments: In RCDP3; severely reduced protein levels.
up seq anno comments: N6-acetyllysine
up seq anno comments: Peroxisome
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Proton donor/acceptor
up seq anno feature ids: PRO_0000020431
up seq anno feature ids: VAR_005002
up seq anno feature ids: VAR_025895
up seq anno feature ids: VAR_025896
up seq anno feature ids: VAR_066929
up seq anno feature ids: VAR_066930
up seq anno feature ids: VAR_066931

9606:APOLD1
gene id: 9606:APOLD1
uniprot id: A0AVN6
uniprot id: Q96LR9
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Apolipoprotein L domain-containing protein 1
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000247275
up seq anno feature ids: VSP_019960

9606:SLC18A1
gene id: 9606:SLC18A1
uniprot id: P54219
uniprot id: Q96GL6
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Chromaffin granule amine transporter
up seq anno comments: Cytoplasmic
up seq anno comments: Decreases the vesicular uptake of noradrenaline and dopamine.
up seq anno comments: Decreases the vesicular uptake of noradrenaline, dopamine and serotonin; may predispose carriers to a increased cortical response to negative stimuli and reduced threat-related amygdala reactivity.
up seq anno comments: Disordered
up seq anno comments: Found in a patient with bipolar disorder; decreases the vesicular uptake of noradrenaline, dopamine and serotonin.
up seq anno comments: Found in a patient with bipolar disorder; has no significant effect on monoamine vesicular uptake.
up seq anno comments: Found in patients with bipolar disorder; decreases the vesicular uptake of noradrenaline, dopamine and serotonin.
up seq anno comments: Found in patients with bipolar disorder; increases the vesicular uptake of noradrenaline and dopamine.
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Lumenal, vesicle
up seq anno comments: Major facilitator superfamily (MFS) profile
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000127510
up seq anno feature ids: VAR_012065
up seq anno feature ids: VAR_020033
up seq anno feature ids: VAR_021856
up seq anno feature ids: VAR_024632
up seq anno feature ids: VAR_024633
up seq anno feature ids: VAR_024634
up seq anno feature ids: VAR_024635
up seq anno feature ids: VAR_024636
up seq anno feature ids: VAR_024637
up seq anno feature ids: VAR_029149
up seq anno feature ids: VAR_029150
up seq anno feature ids: VAR_029151
up seq anno feature ids: VAR_052002
up seq anno feature ids: VAR_087305
up seq anno feature ids: VAR_087306
up seq anno feature ids: VSP_046304
up seq anno feature ids: VSP_046305

9606:HBD
gene id: 9606:HBD
uniprot id: A0N071
uniprot id: P02042
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Turn
up seq anno comments: Globin family profile
up seq anno comments: Hemoglobin subunit delta
up seq anno comments: In Adria.
up seq anno comments: In Agrinio.
up seq anno comments: In Babinga.
up seq anno comments: In Bagheria.
up seq anno comments: In Campania.
up seq anno comments: In Canada; O(2) affinity up.
up seq anno comments: In Capri.
up seq anno comments: In Catania.
up seq anno comments: In Coburg.
up seq anno comments: In Corfu/Troodos.
up seq anno comments: In Delta'.
up seq anno comments: In Etolia.
up seq anno comments: In Fitzroy.
up seq anno comments: In Flatbush.
up seq anno comments: In Grovetown.
up seq anno comments: In Honai.
up seq anno comments: In Indonesia.
up seq anno comments: In LiangCheng.
up seq anno comments: In Lucania.
up seq anno comments: In MUMC/Corleone.
up seq anno comments: In Manzanares; unstable.
up seq anno comments: In Melbourne.
up seq anno comments: In Metaponto.
up seq anno comments: In Monreale.
up seq anno comments: In Montechiaro.
up seq anno comments: In NYU.
up seq anno comments: In Niigata.
up seq anno comments: In Ninive.
up seq anno comments: In Parkville.
up seq anno comments: In Pelendri.
up seq anno comments: In Puglia.
up seq anno comments: In Pylos.
up seq anno comments: In Roosevelt.
up seq anno comments: In Sant' Antioco.
up seq anno comments: In Sphakia.
up seq anno comments: In Ventimiglia.
up seq anno comments: In Victoria.
up seq anno comments: In Wrens; unstable.
up seq anno comments: In Yialousa.
up seq anno comments: In Yokoshima.
up seq anno comments: In Zagreb.
up seq anno comments: In haplotype T11; Kenya.
up seq anno comments: N-acetylalanine; in variant Niigata
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno comments: distal binding residue
up seq anno comments: proximal binding residue
up seq anno feature ids: PRO_0000053167
up seq anno feature ids: VAR_003096
up seq anno feature ids: VAR_003097
up seq anno feature ids: VAR_003098
up seq anno feature ids: VAR_003099
up seq anno feature ids: VAR_003100

9606:DDX56
gene id: 9606:DDX56
uniprot id: Q9NY93
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Complete loss of interaction with IRF3. About 3-4 times less genomic RNA in West Nile virus particles.
up seq anno comments: DEAD box
up seq anno comments: Disordered
up seq anno comments: Helicase ATP-binding
up seq anno comments: Helicase C-terminal
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Probable ATP-dependent RNA helicase DDX56
up seq anno comments: Q motif
up seq anno feature ids: PRO_0000055058
up seq anno feature ids: VSP_044869

9606:DHX9
gene id: 9606:DHX9
uniprot id: B3KU66
uniprot id: Q08211
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: ATP-dependent RNA helicase A
up seq anno comments: Abolishes nuclear localization.
up seq anno comments: Abrogates transcriptional activation and RNA polymerase II binding by the MTAD region. No change in ATP binding and ATPase activities.
up seq anno comments: Abrogates transcriptional activation by the MTAD region. No change in RNA polymerase II holoenzyme binding.
up seq anno comments: Asymmetric dimethylarginine
up seq anno comments: Core helicase
up seq anno comments: DEIH box
up seq anno comments: DRBM 1
up seq anno comments: DRBM 2
up seq anno comments: Disordered
up seq anno comments: Does not inhibit binding to origins of DNA replication.
up seq anno comments: Does not inhibit binding to origins of DNA replication; when associated with A-511.
up seq anno comments: Does not inhibit binding to origins of DNA replication; when associated with A-512.
up seq anno comments: Does not reduce siRNA-binding and interaction with AGO2.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: HA2
up seq anno comments: Helicase ATP-binding
up seq anno comments: Helicase C-terminal
up seq anno comments: Helicase-associated
up seq anno comments: In isoform 2.
up seq anno comments: Inhibits interaction with AGO2, DICER1 and TARBP2. Abrogates helicase activity and transcriptional activation. Does not inhibit binding to origins of DNA replication.
up seq anno comments: Inhibits siRNA-binding and decreases interaction with AGO2; when associated with A-53 and A-54.
up seq anno comments: Inhibits siRNA-binding and decreases interaction with AGO2; when associated with A-53 and A-55.
up seq anno comments: Inhibits siRNA-binding and decreases interaction with AGO2; when associated with A-54 and A-55.
up seq anno comments: Inhibits siRNA-binding and interaction with AGO2.
up seq anno comments: Inhibits siRNA-binding and interaction with AGO2; when associated with A-234 and A-235.
up seq anno comments: Inhibits siRNA-binding and interaction with AGO2; when associated with A-234 and A-236.
up seq anno comments: Inhibits siRNA-binding and interaction with AGO2; when associated with A-235 and A-236.
up seq anno comments: Interaction with BRCA1
up seq anno comments: Interaction with CREBBP
up seq anno comments: Localizes in the cytoplasm and does not interact with the importin complex.
up seq anno comments: Localizes in the nucleus and interacts with the importin complex.
up seq anno comments: Localizes in the nucleus and the cytoplasm and interacts weakly with the importin complex.
up seq anno comments: MTAD
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-methyllysine; alternate
up seq anno comments: Necessary for interaction with H2AX
up seq anno comments: Necessary for interaction with RNA polymerase II holoenzyme
up seq anno comments: Nuclear localization signal (NLS1)
up seq anno comments: Nuclear localization signal (NLS2)
up seq anno comments: OB-fold
up seq anno comments: Omega-N-methylarginine

9606:PKM
gene id: 9606:PKM
uniprot id: A0A804F6T5
uniprot id: A0A804F729
uniprot id: B4DNK4
uniprot id: P14618
uniprot id: V9HWB8
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 4-hydroxyproline
up seq anno comments: Abolished acetylation by EP300. Abolished deacetylation by SIRT6.
up seq anno comments: Abolished interaction with phosphorylated CTNNB1. Impaired phosphorylation of histone H3.
up seq anno comments: Abolishes both pyruvate kinase and protein kinase activities.
up seq anno comments: Abolishes serine binding and allosteric activation.
up seq anno comments: Crucial for phosphotyrosine binding
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: Impaired homotetramerization, leading to homodimerization and subsequent activation of the protein kinase activity.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform M1.
up seq anno comments: Interaction with POU5F1
up seq anno comments: Intersubunit contact
up seq anno comments: Mimics acetylation, promoting homodimerization and ativation of the protein kinase activity.
up seq anno comments: N-acetylserine
up seq anno comments: N6,N6,N6-trimethyllysine
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-succinyllysine
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: Pyruvate kinase C-terminal
up seq anno comments: Pyruvate kinase PKM
up seq anno comments: Pyruvate kinase barrel
up seq anno comments: Removed
up seq anno comments: Significant reduction in hydroxylation and in PKM-mediated transcriptional activity of HIF1A; when associated with A-403.
up seq anno comments: Significant reduction in hydroxylation and in PKM-mediated transcriptional activity of HIF1A; when associated with A-408.
up seq anno comments: Transition state stabilizer
up seq anno comments: Unable to bind FBP but still activated by serine.
up seq anno feature ids: PRO_0000112088
up seq anno feature ids: VAR_033067
up seq anno feature ids: VSP_011101

9606:MEFV
gene id: 9606:MEFV
uniprot id: D2DTW2
uniprot id: O15553
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: B box-type
up seq anno comments: B30.2/SPRY
up seq anno comments: Basic and acidic residues
up seq anno comments: Benign variant; no effect on PYCARD/ASC inflammasome formation.
up seq anno comments: Cleavage; by CASP1
up seq anno comments: Disordered
up seq anno comments: Does not form MEFV- and PSTPIP1-containing perinuclear specks.
up seq anno comments: In ADFMF; severe.
up seq anno comments: In ARFMF and ADFMF.
up seq anno comments: In ARFMF and ADFMF; associated with Q-148 in some patients; no effect on PYCARD/ASC inflammasome formation; no effect on interaction with 14-3-3 proteins.
up seq anno comments: In ARFMF and ADFMF; likely benign variant; associated with S-369 and Q-408 in cis; associated with I-694 in some patients.
up seq anno comments: In ARFMF and ADFMF; reduced CASP1 interaction; decreased interaction with ULK1 and diminished NLRP3 degradation after induction of autophagy by starvation; when associated with V-694 (PubMed:26347139); no effect on PYCARD/ASC inflammasome formation; no effect on interaction with 14-3-3 proteins.
up seq anno comments: In ARFMF and ADFMF; very common mutation particularly in North African Jews; can be associated with amyloidosis development; reduced interaction with CASP1 and with ULK1 and diminished NLRP3 degradation after induction of autophagy by starvation (PubMed:16785446) (PubMed:26347139); effect on autophagic NLRP3 degradation is increased; when associated with I-680; no effect on interaction with CASP1, CASP5, NLRP1, NLRP2 or NLRP3 (PubMed:17431422).
up seq anno comments: In ARFMF.
up seq anno comments: In ARFMF; associated with Q-148 and S-369 in cis.
up seq anno comments: In ARFMF; common mutation; in Iraqi and Ashkenazi Jews, Druze, Armenians; reduced interaction with CASP1 and ULK1 and diminished NLRP3 degradation after induction of autophagy by starvation; when associated with I-680 and V-694; no effect on CASP1 activation; no effect on interaction with 14-3-3 proteins.
up seq anno comments: In ARFMF; likely benign variant.
up seq anno comments: In ARFMF; reduced penetrance among Ashkenazi Jews.
up seq anno comments: In ARFMF; uncertain pathological significance.
up seq anno comments: In ARFMF; unknown pathological significance.
up seq anno comments: In ARFMF; unknown pathological significance; associated with Q-148 and Q-408 in cis.
up seq anno comments: In ARFMF; unknown pathological significance; no effect on PYCARD/ASC inflammasome formation.
up seq anno comments: In PAAND; results in constitutive inflammasome activation; increased PYCARD/ASC specks formation; increased caspase-1 activation and IL1B and IL18 production; decreased interaction with 14-3-3 proteins; no effect on interaction with PSTPIP1.
up seq anno comments: In PAAND; results in constitutive inflammasome activation; increased PYCARD/ASC specks formation; increased caspase-1 activation and IL1B production; loss of S-242 phosphorylation; loss of interaction with 14-3-3 proteins.
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: In one patient with familial Mediterranean fever.
up seq anno comments: Increased PYCARD/ASC specks formation. Decreased interaction with 14-3-3 proteins.
up seq anno comments: Interaction with RELA
up seq anno comments: Loss of cleavage by CASP1.
up seq anno comments: Loss of interaction with 14-3-3 proteins.
up seq anno comments: No effect on GABARAP-binding. Loss of GABARAP-binding; when associated with 397-I--H-404 and 470-Y--G-488.
up seq anno comments: No effect on GABARAP-binding. Loss of GABARAP-binding; when associated with 397-I--H-404 and 523-S--D-530.
up seq anno comments: No effect on GABARAP-binding. Loss of GABARAP-binding; when associated with 470-Y--G-488 and 523-S--D-530.
up seq anno comments: No effect on PYCARD/ASC specks formation. Increased interaction with 14-3-3 proteins.
up seq anno comments: No effect on PYCARD/ASC specks formation. No effect on interaction with 14-3-3 proteins.
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Probable disease-associated variant found in an autosomal dominant autoinflammatory disease with some similarities to familial Mediterranean fever.
up seq anno comments: Pyrin
up seq anno comments: Required for homotrimerization and induction of pyroptosomes

9606:SPO11
gene id: 9606:SPO11
uniprot id: Q9Y5K1
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: Meiotic recombination protein SPO11
up seq anno comments: Nucleophile
up seq anno feature ids: PRO_0000145474
up seq anno feature ids: VAR_023307
up seq anno feature ids: VAR_029246
up seq anno feature ids: VAR_052596
up seq anno feature ids: VAR_052597
up seq anno feature ids: VSP_006533

9606:ASB7
gene id: 9606:ASB7
uniprot id: Q9H672
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: ANK 1
up seq anno comments: ANK 2
up seq anno comments: ANK 3
up seq anno comments: ANK 4
up seq anno comments: ANK 5
up seq anno comments: ANK 6
up seq anno comments: ANK 7
up seq anno comments: Ankyrin repeat and SOCS box protein 7
up seq anno comments: In isoform 2.
up seq anno comments: SOCS box
up seq anno feature ids: PRO_0000066935
up seq anno feature ids: VSP_008919
up seq anno feature ids: VSP_008920

9606:CALR
gene id: 9606:CALR
uniprot id: P27797
uniprot id: V9HW88
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Mass
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mass
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 1-1
up seq anno comments: 1-2
up seq anno comments: 1-3
up seq anno comments: 1-4
up seq anno comments: 2-1
up seq anno comments: 2-2
up seq anno comments: 2-3
up seq anno comments: 3 X approximate repeats
up seq anno comments: 4 X approximate repeats
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: C-domain
up seq anno comments: Calreticulin
up seq anno comments: Disordered
up seq anno comments: Interaction with PPIB
up seq anno comments: N-domain
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: N6-(2-hydroxyisobutyryl)lysine
up seq anno comments: N6-acetyllysine
up seq anno comments: P-domain
up seq anno comments: Prevents secretion from ER
up seq anno feature ids: PRO_0000004173
up seq anno feature ids: PRO_5014206132

9606:TLNRD1
gene id: 9606:TLNRD1
uniprot id: Q9H1K6
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: N-acetylalanine
up seq anno comments: Removed
up seq anno comments: Talin rod domain-containing protein 1
up seq anno feature ids: PRO_0000096441

9606:PTGES
gene id: 9606:PTGES
uniprot id: O14684
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Site
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Essential for protaglandin-E synthase activity
up seq anno comments: Helical
up seq anno comments: Keeps about 40-50% of prostaglandin-E synthase activity.
up seq anno comments: Loss of prostaglandin-E synthase activity.
up seq anno comments: Loss of prostaglandin-E synthase activity. Transforms prostaglandin-E synthase activity to prostaglandin-F(2alpha)synthase activity.
up seq anno comments: Loss of protaglandin-E synthase activity.
up seq anno comments: Lumenal
up seq anno comments: No effect on protaglandin-E synthase activity.
up seq anno comments: Prostaglandin E synthase
up seq anno comments: Reduces protaglandin-E synthase activity by 50%.
up seq anno comments: Reduces protaglandin-E synthase activity by 70%.
up seq anno comments: Retains 17.8% of protaglandin-E synthase activity.
up seq anno comments: Retains 21.3% activity of protaglandin-E synthase activity.
up seq anno comments: Retains partial of protaglandin-E synthase activity.
up seq anno comments: Slightly reduced protaglandin-E synthase activity.
up seq anno feature ids: PRO_0000217745

9606:TRAT1
gene id: 9606:TRAT1
uniprot id: C9JF66
uniprot id: Q6PIZ9
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Abolishes interaction with PIK3R1.
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical; Signal-anchor for type III membrane protein
up seq anno comments: Interaction with PIK3R1
up seq anno comments: Interchain
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: T-cell receptor-associated transmembrane adapter 1
up seq anno feature ids: PRO_0000083344
up seq anno feature ids: VAR_062195
up seq anno feature ids: VAR_062196

9606:CHMP7
gene id: 9606:CHMP7
uniprot id: B3KMN6
uniprot id: B3KRZ9
uniprot id: B3KUH0
uniprot id: Q8WUX9
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Charged multivesicular body protein 7
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000211516
up seq anno feature ids: VSP_056945
up seq anno feature ids: VSP_056946

9606:MTA1
gene id: 9606:MTA1
uniprot id: Q13330
uniprot id: Q9BRL8
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: BAH
up seq anno comments: Disordered
up seq anno comments: ELM2
up seq anno comments: GATA-type; atypical
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2 and SUMO3)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
up seq anno comments: In isoform 3.
up seq anno comments: In isoform Short.
up seq anno comments: Interaction with RBBP4
up seq anno comments: Loss of acetylation and transcriptional coactivator activity. Reduced ubiquitination. Significant reduction in ubiquitination; when associated with A-182.
up seq anno comments: Metastasis-associated protein MTA1
up seq anno comments: Metastasis-associated protein MTA1 R1
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Pro residues
up seq anno comments: Reduced sumoylation and transcriptional corepressor activity.
up seq anno comments: Reduced ubiquitination. Significant reduction in ubiquitination; when associated with A-626.
up seq anno comments: SANT
up seq anno comments: SH3-binding
up seq anno comments: SUMO interaction motif 1 (SIM); crucial for efficient sumoylation
up seq anno comments: Significant loss of interaction with SUMO1 and SUMO2 and reduced transcriptional corepressor activity.
up seq anno feature ids: PRO_0000083493
up seq anno feature ids: VAR_055847
up seq anno feature ids: VAR_058965
up seq anno feature ids: VSP_001601
up seq anno feature ids: VSP_001602
up seq anno feature ids: VSP_042207

9606:MYL5
gene id: 9606:MYL5
uniprot id: Q02045
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: EF-hand 1
up seq anno comments: EF-hand 2
up seq anno comments: EF-hand 3
up seq anno comments: In isoform 2.
up seq anno comments: Myosin light chain 5
up seq anno feature ids: PRO_0000198745
up seq anno feature ids: VAR_050459
up seq anno feature ids: VSP_026448

9606:SLC16A4
gene id: 9606:SLC16A4
uniprot id: O15374
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: Monocarboxylate transporter 5
up seq anno feature ids: PRO_0000211398
up seq anno feature ids: VAR_020309
up seq anno feature ids: VAR_053655
up seq anno feature ids: VSP_046242
up seq anno feature ids: VSP_046243
up seq anno feature ids: VSP_046244
up seq anno feature ids: VSP_046456
up seq anno feature ids: VSP_046457
up seq anno feature ids: VSP_046458

9606:IGDCC4
gene id: 9606:IGDCC4
uniprot id: Q8TDY8
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Fibronectin type-III 1
up seq anno comments: Fibronectin type-III 2
up seq anno comments: Fibronectin type-III 3
up seq anno comments: Fibronectin type-III 4
up seq anno comments: Fibronectin type-III 5
up seq anno comments: Helical
up seq anno comments: Ig-like C2-type 1
up seq anno comments: Ig-like C2-type 2
up seq anno comments: Ig-like C2-type 3
up seq anno comments: Ig-like C2-type 4
up seq anno comments: Immunoglobulin superfamily DCC subclass member 4
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000304622
up seq anno feature ids: VAR_049966
up seq anno feature ids: VAR_049967
up seq anno feature ids: VAR_049968
up seq anno feature ids: VAR_049969
up seq anno feature ids: VAR_059391
up seq anno feature ids: VSP_028046

9606:KRTAP19-1
gene id: 9606:KRTAP19-1
uniprot id: Q8IUB9
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Region
up seq anno comments: 26 X 2 AA repeats of G-[YCGS]
up seq anno comments: Keratin-associated protein 19-1
up seq anno feature ids: PRO_0000185221

9606:THBS1
gene id: 9606:THBS1
uniprot id: P07996
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: C-linked (Man) tryptophan
up seq anno comments: Cell attachment site
up seq anno comments: Disordered
up seq anno comments: EGF-like 1
up seq anno comments: EGF-like 2
up seq anno comments: Heparin-binding
up seq anno comments: In isoform 2.
up seq anno comments: Interchain
up seq anno comments: Involved in retention in extracellular matrix (ECM); involved in trimer formation
up seq anno comments: Laminin G-like
up seq anno comments: Loss of N-glycosylation site.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: O-linked (Fuc...) serine
up seq anno comments: O-linked (Fuc...) threonine
up seq anno comments: Reduces attachment to cells and retention in extracellular matrix (ECM); retention in ECM partially dependent on beta-1 integrin.
up seq anno comments: Reduces attachment to cells and retention in extracellular matrix.
up seq anno comments: TSP C-terminal
up seq anno comments: TSP type-1 1
up seq anno comments: TSP type-1 2
up seq anno comments: TSP type-1 3
up seq anno comments: TSP type-3 1
up seq anno comments: TSP type-3 2
up seq anno comments: TSP type-3 3
up seq anno comments: TSP type-3 4
up seq anno comments: TSP type-3 5
up seq anno comments: TSP type-3 6
up seq anno comments: TSP type-3 7
up seq anno comments: TSP type-3 8
up seq anno comments: Thrombospondin-1
up seq anno comments: VWFC
up seq anno feature ids: CAR_000205
up seq anno feature ids: CAR_000206
up seq anno feature ids: CAR_000207
up seq anno feature ids: CAR_000208
up seq anno feature ids: CAR_000209
up seq anno feature ids: CAR_000210
up seq anno feature ids: CAR_000211
up seq anno feature ids: PRO_0000035842
up seq anno feature ids: VAR_028938
up seq anno feature ids: VAR_028939

9606:ADCY6
gene id: 9606:ADCY6
uniprot id: O43306
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Adenylate cyclase type 6
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In LCCS8.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No effect on basal enzyme activity, but increased enzyme activity upon activation via G-proteins or forskolin.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000195699
up seq anno feature ids: VAR_048249
up seq anno feature ids: VAR_073434
up seq anno feature ids: VSP_000244

9606:RNF146
gene id: 9606:RNF146
uniprot id: Q9NTX7
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Abolishes the ability to recognize and bind PARsylated proteins.
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: E3 ubiquitin-protein ligase RNF146
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: In isoform 2.
up seq anno comments: Loss of iso-ADP-ribose-binding affinity.
up seq anno comments: Loss of iso-ADP-ribose-binding.
up seq anno comments: Minor effect on iso-ADP-ribose-binding.
up seq anno comments: No effect on Wnt signaling pathway.
up seq anno comments: Partially suppression of WNT3A signaling and stabilization of AXIN1, TNKS and TNKS2 with or without WNT3A induction. No effect on TNKS1-binding.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: RING-type
up seq anno comments: Strong decrease in iso-ADP-ribose-binding affinity.
up seq anno comments: WWE
up seq anno feature ids: PRO_0000056107
up seq anno feature ids: VAR_065249
up seq anno feature ids: VSP_012968

9606:MAP7D2
gene id: 9606:MAP7D2
uniprot id: A0A0K1JRJ6
uniprot id: A0A0K1JS24
uniprot id: A0A0M4F6E1
uniprot id: A0A0M4FLI9
uniprot id: Q96T17
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: MAP7 domain-containing protein 2
up seq anno comments: N-acetylmethionine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000306809
up seq anno feature ids: VAR_035313
up seq anno feature ids: VAR_035450
up seq anno feature ids: VSP_028490
up seq anno feature ids: VSP_028491
up seq anno feature ids: VSP_028492
up seq anno feature ids: VSP_028493
up seq anno feature ids: VSP_043337
up seq anno feature ids: VSP_044657
up seq anno feature ids: VSP_044658

9606:KLHL9
gene id: 9606:KLHL9
uniprot id: Q58EZ4
uniprot id: Q9P2J3
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno comments: BACK
up seq anno comments: BTB
up seq anno comments: Disordered
up seq anno comments: Kelch 1
up seq anno comments: Kelch 2
up seq anno comments: Kelch 3
up seq anno comments: Kelch 4
up seq anno comments: Kelch 5
up seq anno comments: Kelch 6
up seq anno comments: Kelch-like protein 9
up seq anno feature ids: PRO_0000119110

9606:WDR97
gene id: 9606:WDR97
uniprot id: A6NE52
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: WD 1
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno comments: WD repeat-containing protein 97
up seq anno feature ids: PRO_0000332994
up seq anno feature ids: VAR_043029
up seq anno feature ids: VAR_043030
up seq anno feature ids: VAR_043031
up seq anno feature ids: VSP_033425
up seq anno feature ids: VSP_033426

9606:FLG
gene id: 9606:FLG
uniprot id: P20930
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: EF-hand 1
up seq anno comments: EF-hand 2
up seq anno comments: Filaggrin
up seq anno comments: Filaggrin 1
up seq anno comments: Filaggrin 10
up seq anno comments: Filaggrin 11
up seq anno comments: Filaggrin 12
up seq anno comments: Filaggrin 13
up seq anno comments: Filaggrin 14
up seq anno comments: Filaggrin 15
up seq anno comments: Filaggrin 16
up seq anno comments: Filaggrin 17
up seq anno comments: Filaggrin 18
up seq anno comments: Filaggrin 19
up seq anno comments: Filaggrin 2
up seq anno comments: Filaggrin 20
up seq anno comments: Filaggrin 21
up seq anno comments: Filaggrin 22
up seq anno comments: Filaggrin 23
up seq anno comments: Filaggrin 3
up seq anno comments: Filaggrin 4
up seq anno comments: Filaggrin 5
up seq anno comments: Filaggrin 6
up seq anno comments: Filaggrin 7
up seq anno comments: Filaggrin 8
up seq anno comments: Filaggrin 9
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000144036
up seq anno feature ids: VAR_033931
up seq anno feature ids: VAR_045968
up seq anno feature ids: VAR_045969
up seq anno feature ids: VAR_045970
up seq anno feature ids: VAR_045971
up seq anno feature ids: VAR_045972
up seq anno feature ids: VAR_045973
up seq anno feature ids: VAR_045974
up seq anno feature ids: VAR_048472
up seq anno feature ids: VAR_048473
up seq anno feature ids: VAR_048474
up seq anno feature ids: VAR_048475
up seq anno feature ids: VAR_048476
up seq anno feature ids: VAR_048477
up seq anno feature ids: VAR_048478
up seq anno feature ids: VAR_048479
up seq anno feature ids: VAR_048480
up seq anno feature ids: VAR_048481
up seq anno feature ids: VAR_048482
up seq anno feature ids: VAR_048483
up seq anno feature ids: VAR_048484

9606:SNTB2
gene id: 9606:SNTB2
uniprot id: Q13425
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Beta-2-syntrophin
up seq anno comments: Calmodulin-binding
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: PDZ
up seq anno comments: PH 1
up seq anno comments: PH 2
up seq anno comments: Phosphoserine
up seq anno comments: Pro residues
up seq anno comments: SU
up seq anno feature ids: PRO_0000184011
up seq anno feature ids: VAR_014076
up seq anno feature ids: VAR_073697
up seq anno feature ids: VSP_006358
up seq anno feature ids: VSP_006359

9606:OSBPL3
gene id: 9606:OSBPL3
uniprot id: Q9H4L5
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes plasma membrane targeting and nuclear localization.
up seq anno comments: Decreases plasma membrane targeting and nuclear localization.
up seq anno comments: Disordered
up seq anno comments: FFAT 1
up seq anno comments: FFAT 2
up seq anno comments: In isoform 1b, isoform 1d, isoform 2b and isoform 2d.
up seq anno comments: In isoform 1c, isoform 1d, isoform 2c and isoform 2d.
up seq anno comments: In isoform 2a, isoform 2b, isoform 2c and isoform 2d.
up seq anno comments: No effect on interaction with VAPA.
up seq anno comments: Oxysterol-binding protein-related protein 3
up seq anno comments: PH
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Reduces VAPA binding. Abolishes association with endoplasmic reticulum.
up seq anno feature ids: PRO_0000100371
up seq anno feature ids: VAR_053548
up seq anno feature ids: VSP_008219
up seq anno feature ids: VSP_008220
up seq anno feature ids: VSP_008221
up seq anno feature ids: VSP_008222

9606:GRIK3
gene id: 9606:GRIK3
uniprot id: Q13003
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Glutamate receptor ionotropic, kainate 3
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)
up seq anno comments: Helical
up seq anno comments: In RNA edited version.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000011547
up seq anno feature ids: VAR_000308
up seq anno feature ids: VAR_000309
up seq anno feature ids: VAR_035695
up seq anno feature ids: VAR_035696
up seq anno feature ids: VSP_056588

9606:KLF4
gene id: 9606:KLF4
uniprot id: O43474
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Zinc Finger
up seq anno comments: 5-glutamyl polyglutamate
up seq anno comments: 9aaTAD
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: Interaction with ZNF296
up seq anno comments: Interaction with target DNA
up seq anno comments: Krueppel-like factor 4
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000047167
up seq anno feature ids: VAR_059888
up seq anno feature ids: VAR_059889
up seq anno feature ids: VSP_036399
up seq anno feature ids: VSP_040569
up seq anno feature ids: VSP_047470
up seq anno feature ids: VSP_047471
up seq anno feature ids: VSP_047472
up seq anno feature ids: VSP_047473

9606:ASTN2
gene id: 9606:ASTN2
uniprot id: B3KN99
uniprot id: B7ZKP4
uniprot id: B7ZKP5
uniprot id: O75129
uniprot id: X6R5P2
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Abolishes inositol-4,5-bisphosphate binding. Strongly reduces affinity for inositol-3,4,5-trisphosphate.
up seq anno comments: Annexin-like
up seq anno comments: Astrotactin-1/2 EGF-like and Fn(III)
up seq anno comments: Astrotactin-2
up seq anno comments: Astrotactin-2 C-terminal beta-hairpin
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: EGF-like 1
up seq anno comments: EGF-like 2
up seq anno comments: EGF-like 3
up seq anno comments: Fibronectin type-III
up seq anno comments: Found in a clear cell renal carcinoma case; somatic mutation.
up seq anno comments: Found in a patient with global developmental delay; unknown pathological significance.
up seq anno comments: Helical
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 6.
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000308252
up seq anno feature ids: VAR_036765
up seq anno feature ids: VAR_036766
up seq anno feature ids: VAR_036767
up seq anno feature ids: VAR_036768
up seq anno feature ids: VAR_064699
up seq anno feature ids: VAR_084650
up seq anno feature ids: VSP_028930
up seq anno feature ids: VSP_028931
up seq anno feature ids: VSP_028932
up seq anno feature ids: VSP_028933
up seq anno feature ids: VSP_028934
up seq anno feature ids: VSP_028937

9606:FAM24B
gene id: 9606:FAM24B
uniprot id: Q8N5W8
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Protein FAM24B
up seq anno feature ids: PRO_0000021224
up seq anno feature ids: VAR_038485

9606:APLF
gene id: 9606:APLF
uniprot id: Q8IW19
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Abolished interaction with XRCC5 and XRCC6.
up seq anno comments: Abolished interaction with XRCC5 and XRCC6; impaired localization to the nucleus.
up seq anno comments: Abolished interaction with XRCC5 and XRCC6; impaired localization to the nucleus; decreased ability to promote non-homologous end-joining (NHEJ).
up seq anno comments: Abolishes poly(ADP-ribose)-binding and poly-ADP-ribosylation by PARP1; when associated with A-379; A-385 and A-421. Abolishes poly(ADP-ribose)-binding and poly-ADP-ribosylation by PARP1; when associated with A-376 and A-421. Does not affect histone chaperone activity; when associated with A-376 and A-421.
up seq anno comments: Abolishes poly(ADP-ribose)-binding and poly-ADP-ribosylation by PARP1; when associated with A-379; A-385 and A-427. Abolishes poly(ADP-ribose)-binding and poly-ADP-ribosylation by PARP1; when associated with A-376 and A-427. Does not affect histone chaperone activity; when associated with A-376 and A-427.
up seq anno comments: Abolishes poly(ADP-ribose)-binding and poly-ADP-ribosylation by PARP1; when associated with A-379; A-421 and A-427. Does not affect histone chaperone activity; when associated with A-379; A-421 and A-427.
up seq anno comments: Abolishes poly(ADP-ribose)-binding and poly-ADP-ribosylation by PARP1; when associated with A-385; A-421 and A-427. Does not affect histone chaperone activity; when associated with A-385; A-421 and A-427.
up seq anno comments: Abolishes poly(ADP-ribose)-binding and poly-ADP-ribosylation by PARP1; when associated with A-421 and A-427. Does not affect histone chaperone activity; when associated with A-421 and A-427.
up seq anno comments: Acidic residues
up seq anno comments: Aprataxin and PNK-like factor
up seq anno comments: Basic and acidic residues
up seq anno comments: Decreases phosphorylation by ATM.
up seq anno comments: Disordered
up seq anno comments: Does not affect interaction with XRCC5 and XRCC6.
up seq anno comments: Does not affect interaction with XRCC5 and XRCC6; decreased ability to promote non-homologous end-joining (NHEJ).
up seq anno comments: FHA-like
up seq anno comments: Flexible linker
up seq anno comments: Impaired binding to histones and ability to mediate histone chaperone activity.
up seq anno comments: KBM
up seq anno comments: NAP1L motif
up seq anno comments: PBZ-type 1
up seq anno comments: PBZ-type 2
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by ATM
up seq anno comments: Polar residues
up seq anno comments: Reduced interaction with XRCC5 and XRCC6.
up seq anno comments: Reduced interaction with XRCC5 and XRCC6; impaired localization to the nucleus.
up seq anno feature ids: PRO_0000089342
up seq anno feature ids: VAR_032299
up seq anno feature ids: VAR_032300
up seq anno feature ids: VAR_061557

9606:MRPL35
gene id: 9606:MRPL35
uniprot id: Q9NZE8
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: In isoform 2.
up seq anno comments: Large ribosomal subunit protein bL35m
up seq anno comments: Mitochondrion
up seq anno feature ids: PRO_0000030525
up seq anno feature ids: VAR_030010
up seq anno feature ids: VAR_034463
up seq anno feature ids: VAR_051803
up seq anno feature ids: VAR_054632
up seq anno feature ids: VAR_054633
up seq anno feature ids: VAR_054634
up seq anno feature ids: VSP_036507

9606:ANXA8L1
gene id: 9606:ANXA8L1
uniprot id: P13928
uniprot id: Q5VT79
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Annexin 1
up seq anno comments: Annexin 2
up seq anno comments: Annexin 3
up seq anno comments: Annexin 4
up seq anno comments: Annexin A8
up seq anno comments: Annexin A8-like protein 1
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno feature ids: PRO_0000067503
up seq anno feature ids: PRO_0000328939
up seq anno feature ids: VAR_000604
up seq anno feature ids: VAR_030630
up seq anno feature ids: VAR_048254
up seq anno feature ids: VAR_067447
up seq anno feature ids: VAR_067448
up seq anno feature ids: VSP_052782
up seq anno feature ids: VSP_052783
up seq anno feature ids: VSP_052784
up seq anno feature ids: VSP_056397
up seq anno feature ids: VSP_056398
up seq anno feature ids: VSP_057805

9606:SIN3A
gene id: 9606:SIN3A
uniprot id: Q96ST3
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In WITKOS.
up seq anno comments: Interaction with HCFC1
up seq anno comments: Interaction with HDAC1 and ARID4B
up seq anno comments: Interaction with NCOR1
up seq anno comments: Interaction with OGT
up seq anno comments: Interaction with REST
up seq anno comments: Interaction with SAP30
up seq anno comments: Interaction with SUDS3 and SAP130
up seq anno comments: N6-acetyllysine
up seq anno comments: PAH 1
up seq anno comments: PAH 2
up seq anno comments: PAH 3
up seq anno comments: Paired amphipathic helix protein Sin3a
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000121537
up seq anno feature ids: VAR_062129
up seq anno feature ids: VAR_081785

9606:PHF23
gene id: 9606:PHF23
uniprot id: Q9BUL5
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Acidic residues
up seq anno comments: Breakpoint for translocation to form NUP98-PHF23 oncogene
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: N-acetylmethionine
up seq anno comments: PHD finger protein 23
up seq anno comments: PHD-type
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000302830
up seq anno feature ids: VSP_027962
up seq anno feature ids: VSP_027963
up seq anno feature ids: VSP_056058
up seq anno feature ids: VSP_057218

9606:ZNF641
gene id: 9606:ZNF641
uniprot id: Q96N77
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: Disordered
up seq anno comments: In isoform 2, isoform 3 and isoform 4.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: KRAB
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Transactivation
up seq anno comments: Zinc finger protein 641
up seq anno feature ids: PRO_0000285301
up seq anno feature ids: VAR_032009
up seq anno feature ids: VAR_032010
up seq anno feature ids: VSP_024867
up seq anno feature ids: VSP_024868
up seq anno feature ids: VSP_043422

9606:PROSER2
gene id: 9606:PROSER2
uniprot id: Q86WR7
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Asymmetric dimethylarginine; alternate
up seq anno comments: Dimethylated arginine; alternate
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Omega-N-methylarginine; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Pro residues
up seq anno comments: Proline and serine-rich protein 2
up seq anno feature ids: PRO_0000089792
up seq anno feature ids: VAR_023097
up seq anno feature ids: VSP_014955

9606:CEP290
gene id: 9606:CEP290
uniprot id: A0A6Q8PGB1
uniprot id: J3KNF5
uniprot id: O15078
uniprot id: Q05BJ6
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Centrosomal protein of 290 kDa
up seq anno comments: Centrosomal protein of 290kDa coiled-coil region
up seq anno comments: Disordered
up seq anno comments: In JBTS5 and SLSN6.
up seq anno comments: In JBTS5.
up seq anno comments: In JBTS5; benign variant.
up seq anno comments: In LCA10 and SLSN6.
up seq anno comments: In LCA10, SLSN6 and MKS4.
up seq anno comments: In LCA10.
up seq anno comments: In LCA10; also found in a patient with night blindness and hearing loss.
up seq anno comments: In LCA10; unknown pathological significance.
up seq anno comments: In MKS4 and JBTS5.
up seq anno comments: In MKS4; unknown pathological significance.
up seq anno comments: Interaction with IQCB1
up seq anno comments: Polar residues
up seq anno comments: Self-association (with itself or C-terminus)
up seq anno comments: Self-association (with itself or N-terminus)
up seq anno feature ids: PRO_0000089464
up seq anno feature ids: VAR_028356
up seq anno feature ids: VAR_031058
up seq anno feature ids: VAR_031059
up seq anno feature ids: VAR_031060
up seq anno feature ids: VAR_031061
up seq anno feature ids: VAR_064397
up seq anno feature ids: VAR_064398
up seq anno feature ids: VAR_064399
up seq anno feature ids: VAR_064400
up seq anno feature ids: VAR_064401
up seq anno feature ids: VAR_066997
up seq anno feature ids: VAR_067192
up seq anno feature ids: VAR_068168
up seq anno feature ids: VAR_075696
up seq anno feature ids: VAR_087300
up seq anno feature ids: VAR_087301
up seq anno feature ids: VAR_087302
up seq anno feature ids: VAR_087592
up seq anno feature ids: VAR_087593
up seq anno feature ids: VAR_087594
up seq anno feature ids: VAR_087595
up seq anno feature ids: VAR_087596

9606:ECT2L
gene id: 9606:ECT2L
uniprot id: Q008S8
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: DH
up seq anno comments: Epithelial cell-transforming sequence 2 oncogene-like
up seq anno comments: F-box
up seq anno feature ids: PRO_0000336075
up seq anno feature ids: VAR_043482
up seq anno feature ids: VAR_043483
up seq anno feature ids: VAR_051984

9606:REM2
gene id: 9606:REM2
uniprot id: Q8IYK8
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: GTP-binding protein REM 2
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000122483
up seq anno feature ids: VAR_055938
up seq anno feature ids: VSP_056922
up seq anno feature ids: VSP_056923

9606:GNAQ
gene id: 9606:GNAQ
uniprot id: P50148
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 5-glutamyl histamine
up seq anno comments: Deamidated glutamine; by Photorhabdus PAU_02230
up seq anno comments: Found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation.
up seq anno comments: G-alpha
up seq anno comments: G1 motif
up seq anno comments: G2 motif
up seq anno comments: G3 motif
up seq anno comments: G4 motif
up seq anno comments: G5 motif
up seq anno comments: Guanine nucleotide-binding protein G(q) subunit alpha
up seq anno comments: In SWS; found as somatic mosaic mutation in CMC; also found in melanocytomas sample; somatic mutation; shows significant activation of EPHB2 compared to control.
up seq anno comments: S-palmitoyl cysteine
up seq anno feature ids: PRO_0000203760
up seq anno feature ids: VAR_059319
up seq anno feature ids: VAR_067270
up seq anno feature ids: VAR_067271

9606:CRABP1
gene id: 9606:CRABP1
uniprot id: F1T0F7
uniprot id: P29762
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Motif
up seq anno labels: Sequence Conflict
up seq anno comments: Cellular retinoic acid-binding protein 1
up seq anno comments: Cytosolic fatty-acid binding proteins
up seq anno comments: Nuclear localization signal
up seq anno feature ids: PRO_0000067406

9606:C1orf226
gene id: 9606:C1orf226
uniprot id: A1L170
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Uncharacterized protein C1orf226
up seq anno feature ids: PRO_0000334679
up seq anno feature ids: VSP_040791

9606:NAV2
gene id: 9606:NAV2
uniprot id: A7E2D6
uniprot id: Q8IVL1
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Basic and acidic residues
up seq anno comments: Calponin-homology (CH)
up seq anno comments: Disordered
up seq anno comments: In isoform 10.
up seq anno comments: In isoform 11.
up seq anno comments: In isoform 12.
up seq anno comments: In isoform 13.
up seq anno comments: In isoform 2, isoform 3 and isoform 4.
up seq anno comments: In isoform 2, isoform 3, isoform 4, isoform 5 and isoform 6.
up seq anno comments: In isoform 3, isoform 4, isoform 5 and isoform 6.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: In isoform 7.
up seq anno comments: In isoform 8.
up seq anno comments: In isoform 9.
up seq anno comments: Neuron navigator 2
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000267198
up seq anno feature ids: VAR_029640
up seq anno feature ids: VAR_029641
up seq anno feature ids: VAR_029642
up seq anno feature ids: VAR_029643
up seq anno feature ids: VAR_032252
up seq anno feature ids: VSP_021924
up seq anno feature ids: VSP_021925
up seq anno feature ids: VSP_021926
up seq anno feature ids: VSP_021927
up seq anno feature ids: VSP_021928
up seq anno feature ids: VSP_021929
up seq anno feature ids: VSP_021930
up seq anno feature ids: VSP_021931
up seq anno feature ids: VSP_021932
up seq anno feature ids: VSP_021933
up seq anno feature ids: VSP_021934
up seq anno feature ids: VSP_021935
up seq anno feature ids: VSP_021936
up seq anno feature ids: VSP_021937
up seq anno feature ids: VSP_021938

9606:TOX4
gene id: 9606:TOX4
uniprot id: O94842
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Asymmetric dimethylarginine
up seq anno comments: Disordered
up seq anno comments: HMG box
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: TOX high mobility group box family member 4
up seq anno feature ids: PRO_0000048568
up seq anno feature ids: VSP_053873
up seq anno feature ids: VSP_055512

9606:HAPSTR1
gene id: 9606:HAPSTR1
uniprot id: Q14CZ0
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Decreased interaction with HUWE1. Loss of oligomerization. Increased proteasomal degradation. Loss of stabilization by HAPSTR2.
up seq anno comments: Disordered
up seq anno comments: HUWE1-associated protein modifying stress responses 1
up seq anno comments: HUWE1-binding and HAPSTR1 oligomerization (HBO) domain
up seq anno comments: In isoform 2.
up seq anno comments: Loss of interaction with HUWE1. No effect on oligomerization.
up seq anno comments: Loss of interaction with HUWE1. No effect on oligomerization. No effect on stabilization by HAPSTR2.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000297627
up seq anno feature ids: VAR_034657
up seq anno feature ids: VSP_061734

9606:UQCR10
gene id: 9606:UQCR10
uniprot id: Q9UDW1
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytochrome b-c1 complex subunit 9
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Mitochondrial intermembrane
up seq anno comments: Mitochondrial matrix
up seq anno comments: Removed
up seq anno feature ids: PRO_0000193553
up seq anno feature ids: VAR_052444
up seq anno feature ids: VSP_041429

9606:SLC38A3
gene id: 9606:SLC38A3
uniprot id: Q99624
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: In DEE102.
up seq anno comments: In DEE102; unknown pathological significance.
up seq anno comments: Modulates L-glutamine-induced conductances and Na(+) binding
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Sodium-coupled neutral amino acid transporter 3
up seq anno feature ids: PRO_0000093828
up seq anno feature ids: VAR_087292
up seq anno feature ids: VAR_087293
up seq anno feature ids: VAR_087294
up seq anno feature ids: VAR_087295
up seq anno feature ids: VAR_087296
up seq anno feature ids: VAR_087297

9606:RNF125
gene id: 9606:RNF125
uniprot id: Q96EQ8
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Lipid Binding
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Abolished E3 ubiquitin-protein ligase activity in vitro.
up seq anno comments: Abolishes ability to regulate T-cell activation and E3 ligase activity in vitro; when associated with A-37.
up seq anno comments: Abolishes ability to regulate T-cell activation and E3 ligase activity in vitro; when associated with A-40.
up seq anno comments: Abolishes ability to regulate T-cell activation and E3 ligase activity in vitro; when associated with A-54.
up seq anno comments: Abolishes ability to regulate T-cell activation and E3 ligase activity in vitro; when associated with A-57.
up seq anno comments: Abolishes ability to regulate T-cell activation and E3 ligase activity in vitro; when associated with A-72.
up seq anno comments: Abolishes ability to regulate T-cell activation and E3 ligase activity in vitro; when associated with A-75.
up seq anno comments: Abolishes ability to regulate T-cell activation but not E3 ligase activity in vitro. Also abolishes myristoylation and membrane localization.
up seq anno comments: C2HC RNF-type
up seq anno comments: Disordered
up seq anno comments: E3 ubiquitin-protein ligase RNF125
up seq anno comments: In TNORS.
up seq anno comments: Interaction with the C2HC RNF-type zinc finger
up seq anno comments: Interaction with the RING-type zinc finger
up seq anno comments: Linker region
up seq anno comments: N-myristoyl glycine
up seq anno comments: RING-type
up seq anno comments: Reduced ubiquitination and reduced binding to ubiquitinated proteins; when associated with P-217.
up seq anno comments: Reduced ubiquitination and reduced binding to ubiquitinated proteins; when associated with Q-221.
up seq anno comments: Removed
up seq anno comments: Required for interaction with ubiquitin and for autoubiquitination
up seq anno feature ids: PRO_0000056090
up seq anno feature ids: VAR_073353
up seq anno feature ids: VAR_073354
up seq anno feature ids: VAR_073355

9606:CFAP44
gene id: 9606:CFAP44
uniprot id: Q96MT7
uniprot id: Q9NUU0
uniprot id: Q9UF55
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Cilia- and flagella-associated protein 44
up seq anno comments: Disordered
up seq anno comments: In SPGF20.
up seq anno comments: In isoform 1.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: WD 1
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno comments: WD 7
up seq anno comments: WD 8
up seq anno comments: WD 9
up seq anno feature ids: PRO_0000305102
up seq anno feature ids: VAR_053435
up seq anno feature ids: VAR_062105
up seq anno feature ids: VAR_080886
up seq anno feature ids: VAR_080887
up seq anno feature ids: VSP_059893
up seq anno feature ids: VSP_059894

9606:ELK1
gene id: 9606:ELK1
uniprot id: P19419
uniprot id: Q86SR6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 17% reduction in ternary complex formation.
up seq anno comments: 34% reduction in ternary complex formation.
up seq anno comments: 9-fold increase in transcriptional activator activity; when associated with R-230. Reduction in sumoylation.
up seq anno comments: 9-fold increase in transcriptional activator activity; when associated with R-249. Reduction in sumoylation.
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: ETS
up seq anno comments: ETS domain-containing protein Elk-1
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
up seq anno comments: In isoform 2.
up seq anno comments: No effect on ternary complex formation but loss of transcriptional activity positive regulation by MAD2L2.
up seq anno comments: No effect on ternary complex formation.
up seq anno comments: Phosphoserine; by MAPK1
up seq anno comments: Phosphoserine; by MAPK1 and MAPK8
up seq anno comments: Phosphothreonine; by MAPK1
up seq anno comments: Reduction in sumoylation.
up seq anno comments: Slight reduction in ternary complex formation.
up seq anno comments: Sufficient for interaction with MAD2L2
up seq anno feature ids: PRO_0000204095
up seq anno feature ids: VAR_017108
up seq anno feature ids: VAR_017109
up seq anno feature ids: VSP_001466
up seq anno feature ids: VSP_001467

9606:HMGN4
gene id: 9606:HMGN4
uniprot id: O00479
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno comments: ADP-ribosylserine
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: High mobility group nucleosome-binding domain-containing protein 4
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000206704

9606:ACE2
gene id: 9606:ACE2
uniprot id: Q9BYF1
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Abolishes interaction with SARS-CoV spike glycoprotein.
up seq anno comments: About 50% loss of angiotensin I cleavage but two-fold greater activity with angiotensin II.
up seq anno comments: About 80% loss of angiotensin I cleavage.
up seq anno comments: About 95% loss of angiotensin I cleavage.
up seq anno comments: Angiotensin-converting enzyme 2
up seq anno comments: Collectrin-like
up seq anno comments: Complete loss of enzyme activity.
up seq anno comments: Complete loss of enzyme activity. Does not affect amino acid transport activity of SLC6A19.
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Endocytic sorting signal
up seq anno comments: Essential for cleavage by ADAM17
up seq anno comments: Essential for cleavage by TMPRSS11D and TMPRSS2
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Increases slightly the interaction with RBD domain of SARS-CoV-2 spike protein.
up seq anno comments: Increases slightly the interaction with RBD domain of SARS-CoV-2 spike protein. In sACE2.v2.2; increases interaction with RBD domain of SARS-CoV-2 spike protein; when associated with Y-27 and L-386.
up seq anno comments: Increases slightly the interaction with RBD domain of SARS-CoV-2 spike protein. In sACE2.v2.2; increases interaction with RBD domain of SARS-CoV-2 spike protein; when associated with Y-27 and Y-330.
up seq anno comments: Increases slightly the interaction with RBD domain of SARS-CoV-2 spike protein. In sACE2.v2.2; increases interaction with RBD domain of SARS-CoV-2 spike protein; when associated with Y-330 and L-386.
up seq anno comments: Increases very slightly the interaction with RBD domain of SARS-CoV-2 spike protein.
up seq anno comments: Inhibits interaction with SARS-CoV spike glycoprotein.
up seq anno comments: Interaction with SARS-CoV spike glycoprotein
up seq anno comments: LIR
up seq anno comments: Loss of interaction with NHERF1.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No effect on interaction with SARS-CoV spike glycoprotein.
up seq anno comments: PDZ-binding
up seq anno comments: PTB
up seq anno comments: Peptidase M2
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine

9606:TWIST2
gene id: 9606:TWIST2
uniprot id: Q8WVJ9
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: In AMS; decreased chromatin binding; the mutant binds to alternative chromatin binding sites compared to wild-type.
up seq anno comments: In BBRSAY; decreased chromatin binding; the mutant binds to alternative chromatin binding sites compared to wild-type.
up seq anno comments: In FFDD3.
up seq anno comments: Twist-related protein 2
up seq anno comments: bHLH
up seq anno feature ids: PRO_0000127489
up seq anno feature ids: VAR_072927
up seq anno feature ids: VAR_074674
up seq anno feature ids: VAR_074675
up seq anno feature ids: VAR_074676
up seq anno feature ids: VAR_074677

9606:VILL
gene id: 9606:VILL
uniprot id: O15195
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: Gelsolin-like 1
up seq anno comments: Gelsolin-like 2
up seq anno comments: Gelsolin-like 3
up seq anno comments: Gelsolin-like 4
up seq anno comments: Gelsolin-like 5
up seq anno comments: Gelsolin-like 6
up seq anno comments: HP
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno comments: Villin-like protein
up seq anno feature ids: PRO_0000218738
up seq anno feature ids: VAR_052938
up seq anno feature ids: VAR_052939
up seq anno feature ids: VAR_081640
up seq anno feature ids: VSP_006729

9606:ERICH2
gene id: 9606:ERICH2
uniprot id: A0A8V8TMA0
uniprot id: A0A8V8TMB5
uniprot id: A1L162
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Glutamate-rich protein 2
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000346762

9606:CTSG
gene id: 9606:CTSG
uniprot id: P08311
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Activation peptide
up seq anno comments: Cathepsin G
up seq anno comments: Cathepsin G, C-terminal truncated form
up seq anno comments: Charge relay system
up seq anno comments: Important for antimicrobial activity
up seq anno comments: N-linked (GlcNAc...) (complex) asparagine; alternate
up seq anno comments: N-linked (GlcNAc...) (paucimannose) asparagine; alternate
up seq anno comments: No effect on proteolytic processing, enzyme activation or sorting to cytoplasmic granules.
up seq anno comments: Peptidase S1
up seq anno feature ids: PRO_0000027512
up seq anno feature ids: PRO_0000027513
up seq anno feature ids: PRO_0000454551
up seq anno feature ids: PRO_0000454552
up seq anno feature ids: VAR_006491

9606:NUCB2
gene id: 9606:NUCB2
uniprot id: P80303
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Binds to necdin
up seq anno comments: Disordered
up seq anno comments: EF-hand 1
up seq anno comments: EF-hand 2
up seq anno comments: GBA
up seq anno comments: In isoform 2.
up seq anno comments: Nesfatin-1
up seq anno comments: Nucleobindin-2
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000004165
up seq anno feature ids: PRO_0000419819
up seq anno feature ids: VAR_020923
up seq anno feature ids: VAR_024399
up seq anno feature ids: VSP_036450

9606:KCNQ1
gene id: 9606:KCNQ1
uniprot id: P51787
uniprot id: Q96AI9
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: INTRAMEM
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: INTRAMEM
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: C-terminal assembly domain
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Does not interact with AKAP9 and the kinase A (PKA) catalytic subunit and protein phosphatase 1 (PP1); when associated with L-602.
up seq anno comments: Does not interact with AKAP9 and the targeting protein kinase A (PKA) catalytic subunit and protein phosphatase 1 (PP1); when associated with I-609.
up seq anno comments: Extracellular
up seq anno comments: Has a voltage-gated potassium channel activity. Disrupts KCNE4-mediated voltage-gated potassium channel activity inhibition.
up seq anno comments: Has a voltage-gated potassium channel activity. Inhibition of voltage-gated potassium channel activity by KCNE4.
up seq anno comments: Helical
up seq anno comments: Helical; Name=Segment S1
up seq anno comments: Helical; Name=Segment S2
up seq anno comments: Helical; Name=Segment S3
up seq anno comments: Helical; Name=Segment S5
up seq anno comments: Helical; Name=Segment S6
up seq anno comments: Helical; Voltage-sensor; Name=Segment S4
up seq anno comments: In ATFB3; gain of function.
up seq anno comments: In JLNS1 and LQT1; impairs outward potassium current; affects plasma membrane localization.
up seq anno comments: In JLNS1.
up seq anno comments: In JLNS1; minor changes of wt current (homomultimers); positive voltage shift of the channel activation (heteromultimers).
up seq anno comments: In JLNS1; requires 2 nucleotide substitutions; does not affect plasma membrane localization; complete loss of outward currents; enhances outward currents when coexpressed with wild type at equimolar ratio.
up seq anno comments: In LQT1 and JLNS1; affects plasma membrane localization; strongly reduces potassium current; impairs binding to AKAP9 and the targeting protein kinase A (PKA) catalytic subunit and protein phosphatase 1 (PP1).
up seq anno comments: In LQT1 and JLNS1; impairs outward potassium current; affects plasma membrane localization.
up seq anno comments: In LQT1.
up seq anno comments: In LQT1; affects channel activity; when expressed in heterologous system the mutant significantly reduces total IKs steady-state and tail currents with a positive shift of the voltage dependence of activation.
up seq anno comments: In LQT1; associated with M-254 in a patient.
up seq anno comments: In LQT1; associated with M-417 in a patient.
up seq anno comments: In LQT1; associated with a fruste phenotype; decreases interaction with KCNE1 C-terminus; does not affect plasma membrane localization; reduces IKS current density; shifts activation of the voltage dependence; deactivates more rapidly; impairs binding with phosphatidylinositol 4,5-bisphosphate.
up seq anno comments: In LQT1; benign variant.
up seq anno comments: In LQT1; complete loss of outward potassium current when expressed alone and even in the presence of the wild type at variable ratios; decreases plasma membrane localization.
up seq anno comments: In LQT1; complete loss of outward potassium current; enhances outward potassium current when co-transfected with wild type; decreases plasma membrane localization.
up seq anno comments: In LQT1; decreases IKs amplitude; accelerates the IKs deactivation; effect on plasma membrane localization; reduces up-regulation of Iks through PKA activation.
up seq anno comments: In LQT1; decreases delayed rectifier potassium current Iks; prevents the up-regulation of Iks through PKA activation.
up seq anno comments: In LQT1; decreases interaction with KCNE1 C-terminus; does not affect plasma membrane localization; reduces IKS current density; impairs binding with Phosphatidylinositol 4,5-bisphosphate.
up seq anno comments: In LQT1; decreases interaction with KCNE1 C-terminus; does not affect plasma membrane localization; reduces IKS current density; impairs binding with phosphatidylinositol 4,5-bisphosphate; loss of channel activity.

9606:NRIP2
gene id: 9606:NRIP2
uniprot id: Q9BQI9
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: LXXLL motif
up seq anno comments: Nuclear receptor-interacting protein 2
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000271056
up seq anno feature ids: VSP_053930

9606:OR2G3
gene id: 9606:OR2G3
uniprot id: A0A126GVX0
uniprot id: Q8NGZ4
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 2G3
up seq anno feature ids: PRO_0000150477
up seq anno feature ids: VAR_034178
up seq anno feature ids: VAR_053141

9606:SULT1A2
gene id: 9606:SULT1A2
uniprot id: P50226
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Proton acceptor
up seq anno comments: Sulfotransferase 1A2
up seq anno feature ids: PRO_0000085128
up seq anno feature ids: VAR_007426
up seq anno feature ids: VAR_007427
up seq anno feature ids: VAR_057340
up seq anno feature ids: VAR_057341
up seq anno feature ids: VAR_057342
up seq anno feature ids: VAR_061887

9606:RAB31
gene id: 9606:RAB31
uniprot id: Q13636
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Effector region
up seq anno comments: No change in GTPase activity.
up seq anno comments: Phosphoserine
up seq anno comments: Ras-related protein Rab-31
up seq anno comments: S-geranylgeranyl cysteine
up seq anno feature ids: PRO_0000121232

9606:ARMCX6
gene id: 9606:ARMCX6
uniprot id: Q7L4S7
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Helical; Signal-anchor
up seq anno comments: Mitochondrial intermembrane
up seq anno comments: Mitochondrion outer membrane (MOM)-targeting sequence
up seq anno comments: Protein ARMCX6
up seq anno feature ids: PRO_0000191374

9606:FAIM
gene id: 9606:FAIM
uniprot id: Q9NVQ4
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Fas apoptotic inhibitory molecule 1
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-acetylthreonine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000087173
up seq anno feature ids: VAR_024314
up seq anno feature ids: VAR_024315
up seq anno feature ids: VSP_008991
up seq anno feature ids: VSP_038095

9606:MCL1
gene id: 9606:MCL1
uniprot id: A0A087WT64
uniprot id: C8YZ26
uniprot id: Q07820
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transmembrane
up seq anno comments: Abolishes formation of 23 and 21 kDa cleavage products by CASP3. Abolishes cleavage by caspase-3; when associated with A-127.
up seq anno comments: Abolishes formation of 28 and 17 kDa cleavage products by CASP3. Abolishes cleavage by caspase-3; when associated with A-157.
up seq anno comments: Abolishes mitochondrial localization and decreases stability.
up seq anno comments: Abolishes phosphorylation by MAPK. No effect on phosphorylation induced by okadaic acid or taxol.
up seq anno comments: BH1
up seq anno comments: BH2
up seq anno comments: BH3
up seq anno comments: Bcl-2 Bcl-2 homology region 1-3
up seq anno comments: Cleavage; by caspase-3
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Induced myeloid leukemia cell differentiation protein Mcl-1
up seq anno comments: Loss of phosphorylation by GSK3 and loss of ubiquitination increasing protein stability.
up seq anno comments: No effect on mitochondrial localization.
up seq anno comments: No effect on ubiquitination.
up seq anno comments: No effect.
up seq anno comments: PEST-like
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by GSK3-alpha and GSK3-beta
up seq anno comments: Phosphothreonine; by MAPK
up seq anno comments: Polar residues
up seq anno comments: Reduced ubiquitination.
up seq anno feature ids: PRO_0000143080
up seq anno feature ids: VAR_024021
up seq anno feature ids: VAR_024022
up seq anno feature ids: VAR_054157
up seq anno feature ids: VSP_000532
up seq anno feature ids: VSP_000533

9606:GABRR1
gene id: 9606:GABRR1
uniprot id: P24046
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Gamma-aminobutyric acid receptor subunit rho-1
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000000485
up seq anno feature ids: VAR_024361
up seq anno feature ids: VAR_054426
up seq anno feature ids: VSP_036363
up seq anno feature ids: VSP_046665

9606:PIBF1
gene id: 9606:PIBF1
uniprot id: Q8WXW3
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In JBTS33; loss of function in ciliogenesis.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Mediates modulation of Th2 dominant cytokine production
up seq anno comments: Probable disease-associated variant found in patients with microcephaly and intellectual disability; disrupts interaction with CEP63; no effect on interaction with PCM1.
up seq anno comments: Progesterone-induced-blocking factor 1
up seq anno comments: Required for interaction with PCM1
up seq anno comments: Sufficient for NK inhibitory function
up seq anno feature ids: PRO_0000058426
up seq anno feature ids: VAR_051279
up seq anno feature ids: VAR_051280
up seq anno feature ids: VAR_051281
up seq anno feature ids: VAR_073952
up seq anno feature ids: VAR_080441
up seq anno feature ids: VSP_015302
up seq anno feature ids: VSP_015303
up seq anno feature ids: VSP_015304
up seq anno feature ids: VSP_057956

9606:LTN1
gene id: 9606:LTN1
uniprot id: O94822
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: E3 ubiquitin-protein ligase listerin
up seq anno comments: HEAT 1
up seq anno comments: HEAT 10
up seq anno comments: HEAT 11
up seq anno comments: HEAT 12
up seq anno comments: HEAT 13
up seq anno comments: HEAT 14
up seq anno comments: HEAT 15
up seq anno comments: HEAT 16
up seq anno comments: HEAT 2
up seq anno comments: HEAT 3
up seq anno comments: HEAT 4
up seq anno comments: HEAT 5
up seq anno comments: HEAT 6
up seq anno comments: HEAT 7
up seq anno comments: HEAT 8
up seq anno comments: HEAT 9
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: RING-type
up seq anno feature ids: PRO_0000056304
up seq anno feature ids: VAR_020957
up seq anno feature ids: VAR_057218
up seq anno feature ids: VAR_057219
up seq anno feature ids: VAR_057220
up seq anno feature ids: VSP_040138
up seq anno feature ids: VSP_044911

9606:NT5DC1
gene id: 9606:NT5DC1
uniprot id: Q5TFE4
uniprot id: Q9H2R1
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: 5'-nucleotidase domain-containing protein 1
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: N6-acetyllysine
up seq anno comments: Nucleophile
up seq anno comments: Proton donor
up seq anno feature ids: PRO_0000247222
up seq anno feature ids: VSP_054236

9606:GGA1
gene id: 9606:GGA1
uniprot id: Q9UJY5
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: ADP-ribosylation factor-binding protein GGA1
up seq anno comments: Abolishes interaction with ARF1 and RABEP1.
up seq anno comments: Abolishes interaction with ARF1, UBC and TSG101.
up seq anno comments: Abolishes interaction with ARF1.
up seq anno comments: Abolishes interaction with CCDC91.
up seq anno comments: Abolishes interaction with IGF2R.
up seq anno comments: Abolishes interaction with IGF2R. No effect on the interaction with SORL1.
up seq anno comments: Abolishes interaction with RABEP1 and UBC.
up seq anno comments: Abolishes interaction with RABEP1, UBC and TSG101.
up seq anno comments: Abolishes interaction with RABEP1.
up seq anno comments: Autoinhibitory
up seq anno comments: Disordered
up seq anno comments: GAE
up seq anno comments: GAT
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: Increased interaction with IGF2R.
up seq anno comments: Increased interaction with IGF2R. Reduced phosphorylation. No effect on the interaction with SORL1.
up seq anno comments: Interaction with ARF3
up seq anno comments: N-acetylmethionine
up seq anno comments: No effect on interaction with RABEP1.
up seq anno comments: Partial loss of clathrin-binding.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CK2
up seq anno comments: Polar residues
up seq anno comments: Unstructured hinge
up seq anno comments: VHS
up seq anno feature ids: PRO_0000212680
up seq anno feature ids: VAR_036522
up seq anno feature ids: VAR_036523
up seq anno feature ids: VSP_001744
up seq anno feature ids: VSP_042806
up seq anno feature ids: VSP_042807
up seq anno feature ids: VSP_042808
up seq anno feature ids: VSP_042809
up seq anno feature ids: VSP_057352

9606:OR8J3
gene id: 9606:OR8J3
uniprot id: A0A126GVE3
uniprot id: Q8NGG0
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 8J3
up seq anno feature ids: PRO_0000150670
up seq anno feature ids: VAR_048052
up seq anno feature ids: VAR_048053
up seq anno feature ids: VAR_048054
up seq anno feature ids: VAR_048055

9606:PGLYRP4
gene id: 9606:PGLYRP4
uniprot id: Q96LB8
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with murein
up seq anno comments: N-acetylmuramoyl-L-alanine amidase 1
up seq anno comments: N-acetylmuramoyl-L-alanine amidase 2
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Peptidoglycan recognition protein 4
up seq anno feature ids: PRO_0000023924
up seq anno feature ids: VAR_031586
up seq anno feature ids: VAR_031587
up seq anno feature ids: VAR_031588
up seq anno feature ids: VAR_031589
up seq anno feature ids: VAR_033283
up seq anno feature ids: VAR_050503
up seq anno feature ids: VSP_024388

9606:PSG4
gene id: 9606:PSG4
uniprot id: B3KQL2
uniprot id: Q00888
uniprot id: Q6P520
uniprot id: Q96QL5
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Ig-like
up seq anno comments: Ig-like C2-type 1
up seq anno comments: Ig-like C2-type 2
up seq anno comments: Ig-like C2-type 3
up seq anno comments: Ig-like V-type
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Pregnancy-specific beta-1-glycoprotein 4
up seq anno feature ids: PRO_0000014911
up seq anno feature ids: PRO_5002790295
up seq anno feature ids: PRO_5004279375
up seq anno feature ids: PRO_5014312581
up seq anno feature ids: VAR_016040
up seq anno feature ids: VAR_056073
up seq anno feature ids: VAR_056074
up seq anno feature ids: VAR_060362
up seq anno feature ids: VAR_060363
up seq anno feature ids: VAR_060364
up seq anno feature ids: VSP_007875
up seq anno feature ids: VSP_040131
up seq anno feature ids: VSP_055025

9606:CORO1A
gene id: 9606:CORO1A
uniprot id: P31146
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Coronin-1A
up seq anno comments: Disordered
up seq anno comments: In IMD8; the mutation causes a decrease in protein stability; patient T-cell blasts show delayed activation of signaling molecules MAPK3 and MAPK1.
up seq anno comments: N-acetylserine
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PKC
up seq anno comments: Phosphothreonine; by PKC
up seq anno comments: Removed
up seq anno comments: WD 1
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno comments: WD 7
up seq anno feature ids: PRO_0000050920
up seq anno feature ids: VAR_011956
up seq anno feature ids: VAR_070447

9606:TSHZ2
gene id: 9606:TSHZ2
uniprot id: Q9NRE2
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: DNA Binding
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: DNA Binding
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3; atypical
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Homeobox; atypical
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Teashirt homolog 2
up seq anno feature ids: PRO_0000047064
up seq anno feature ids: VAR_026679
up seq anno feature ids: VAR_026680
up seq anno feature ids: VSP_046071

9606:DEFA1B
gene id: 9606:DEFA1B
uniprot id: P59665
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Peptide
up seq anno parent labels: Propeptide
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Peptide
up seq anno labels: Propeptide
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno comments: ADP-ribosylarginine; by ART1
up seq anno comments: Almost complete loss of bactericidal activity.
up seq anno comments: HP 1-56
up seq anno comments: Neutrophil defensin 1
up seq anno comments: Neutrophil defensin 2
up seq anno comments: Phosphotyrosine
up seq anno feature ids: PRO_0000006771
up seq anno feature ids: PRO_0000006772
up seq anno feature ids: PRO_0000006773
up seq anno feature ids: PRO_0000006774

9606:WDHD1
gene id: 9606:WDHD1
uniprot id: O75717
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: DNA Binding
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: DNA Binding
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: HMG box
up seq anno comments: In isoform 2.
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: WD 1
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno comments: WD 7
up seq anno comments: WD repeat and HMG-box DNA-binding protein 1
up seq anno feature ids: PRO_0000051338
up seq anno feature ids: VAR_053422
up seq anno feature ids: VAR_053423
up seq anno feature ids: VAR_062100
up seq anno feature ids: VSP_054775

9606:B4GALNT1
gene id: 9606:B4GALNT1
uniprot id: B4DSP5
uniprot id: Q00973
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Beta-1,4 N-acetylgalactosaminyltransferase 1
up seq anno comments: Cytoplasmic
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In SPG26.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Interchain (with C-412)
up seq anno comments: Interchain (with C-529)
up seq anno comments: Interchain (with C-80)
up seq anno comments: Interchain (with C-82)
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000059100
up seq anno feature ids: PRO_5014085104
up seq anno feature ids: VAR_012052
up seq anno feature ids: VAR_012053
up seq anno feature ids: VAR_049237
up seq anno feature ids: VAR_070235
up seq anno feature ids: VAR_070236
up seq anno feature ids: VSP_055039
up seq anno feature ids: VSP_055040
up seq anno feature ids: VSP_055041

9606:PLSCR4
gene id: 9606:PLSCR4
uniprot id: E9PHR9
uniprot id: Q9NRQ2
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: 50% decrease in scramblase activity in presence of Ca2+, and 40% decrease in scramblase activity in presence of Mg2+.
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: PPxY motif
up seq anno comments: Phospholipid scramblase 4
up seq anno comments: Phosphotyrosine; by ABL
up seq anno comments: Pro residues
up seq anno comments: Proline-rich domain (PRD)
up seq anno comments: S-palmitoyl cysteine
up seq anno comments: SH3-binding 1
up seq anno comments: SH3-binding 2
up seq anno comments: SH3-binding 3
up seq anno feature ids: PRO_0000100792
up seq anno feature ids: VAR_011315
up seq anno feature ids: VAR_011316
up seq anno feature ids: VSP_042931
up seq anno feature ids: VSP_042932

9606:NPPA
gene id: 9606:NPPA
uniprot id: P01160
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Peptide
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Peptide
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Strand
up seq anno comments: Atrial natriuretic peptide
up seq anno comments: Atriopeptin-1
up seq anno comments: Atriopeptin-2
up seq anno comments: Atriopeptin-3
up seq anno comments: Auriculin-A
up seq anno comments: Auriculin-B
up seq anno comments: Auriculin-C
up seq anno comments: Auriculin-D
up seq anno comments: Cleavage; by CORIN
up seq anno comments: Cleavage; by MME
up seq anno comments: Disordered
up seq anno comments: Important for degradation of atrial natriuretic peptide by IDE
up seq anno comments: In ATRST2.
up seq anno comments: Kaliuretic peptide
up seq anno comments: Long-acting natriuretic peptide
up seq anno comments: Loss of cleavage by CORIN.
up seq anno comments: Natriuretic peptides A
up seq anno comments: No effect on degradation of atrial natriuretic peptide by IDE.
up seq anno comments: Phosphoserine
up seq anno comments: Reduced degradation of atrial natriuretic peptide by IDE; when associated with N-147--151-YDEL.
up seq anno comments: Reduced degradation of atrial natriuretic peptide by IDE; when associated with S-124--126-RDEL.
up seq anno comments: Urodilatin
up seq anno comments: Vessel dilator
up seq anno feature ids: PRO_0000449721
up seq anno feature ids: PRO_0000449722
up seq anno feature ids: PRO_0000449723
up seq anno feature ids: PRO_0000449724
up seq anno feature ids: PRO_0000449725
up seq anno feature ids: PRO_0000449726
up seq anno feature ids: PRO_0000449727
up seq anno feature ids: PRO_0000449728
up seq anno feature ids: PRO_0000449729
up seq anno feature ids: PRO_0000449730
up seq anno feature ids: PRO_0000449731
up seq anno feature ids: PRO_0000449732
up seq anno feature ids: PRO_0000449733
up seq anno feature ids: PRO_0000449734
up seq anno feature ids: VAR_014579
up seq anno feature ids: VAR_071307
up seq anno feature ids: VAR_082651

9606:NCOA6
gene id: 9606:NCOA6
uniprot id: F6M2K2
uniprot id: F6M2K3
uniprot id: Q14686
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Asymmetric dimethylarginine
up seq anno comments: Basic and acidic residues
up seq anno comments: CREBBP-binding region
up seq anno comments: Disordered
up seq anno comments: EP300/CRSP3-binding region
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: LXXLL motif 1
up seq anno comments: LXXLL motif 2
up seq anno comments: N6-acetyllysine
up seq anno comments: NCOA1-binding region
up seq anno comments: NCOA6IP-binding region
up seq anno comments: Nuclear receptor coactivator 6
up seq anno comments: Nuclear receptor coactivator 6 TRADD-N
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by MAPK; in vitro
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Reduced binding to THRB, RXRA, ESR2 and ESR1.
up seq anno comments: Strong increase in binding to THRB, RXRA and ESR2, but dramatic decrease in binding to ESR1.
up seq anno comments: TBP/GTF2A-binding region
up seq anno feature ids: PRO_0000094413
up seq anno feature ids: VAR_027874
up seq anno feature ids: VAR_027875
up seq anno feature ids: VAR_027876
up seq anno feature ids: VAR_036551
up seq anno feature ids: VAR_036552

9606:IFITM10
gene id: 9606:IFITM10
uniprot id: A6NMD0
up seq anno parent labels: Chain
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Lipid Binding
up seq anno labels: Region
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Interferon-induced transmembrane protein 10
up seq anno comments: S-palmitoyl cysteine
up seq anno feature ids: PRO_0000332961

9606:DLGAP2
gene id: 9606:DLGAP2
uniprot id: A0A1B0GTN4
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Region
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Polar residues

9606:YME1L1
gene id: 9606:YME1L1
uniprot id: Q96TA2
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: ATP-dependent zinc metalloprotease YME1L1
up seq anno comments: Helical
up seq anno comments: In OPA11; does not affect localization to mitochondria; abolishes processing to mature form by MPP; results in decreased mitochondrial protein catabolism; has very low protease activity; results in mitochondrial fragmentation.
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of ATPase and protease activity. Loss of PRELID1 degradation. Cannot restore OMA1 degradation in YME1L-depleted cells.
up seq anno comments: Loss of protease activity. Cannot restore OMA1 degradation in YME1L-depleted cells.
up seq anno comments: Mitochondrial intermembrane
up seq anno comments: Mitochondrial matrix
up seq anno feature ids: PRO_0000084667
up seq anno feature ids: VAR_076869
up seq anno feature ids: VSP_010017
up seq anno feature ids: VSP_045336

9606:GON4L
gene id: 9606:GON4L
uniprot id: A4PB67
uniprot id: A4PB68
uniprot id: Q14BN2
uniprot id: Q3T8J9
uniprot id: Q9H986
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Disordered
up seq anno comments: GON-4-like protein
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Myb-like
up seq anno comments: PAH 1
up seq anno comments: PAH 2
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Required for interaction with YY1, SIN3A and HDAC1, and transcriptional repression activity
up seq anno feature ids: PRO_0000197109
up seq anno feature ids: VAR_024320
up seq anno feature ids: VAR_056169
up seq anno feature ids: VAR_056170
up seq anno feature ids: VAR_056171
up seq anno feature ids: VAR_056172
up seq anno feature ids: VSP_016580
up seq anno feature ids: VSP_016581
up seq anno feature ids: VSP_016582

9606:CCDC102B
gene id: 9606:CCDC102B
uniprot id: Q68D86
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Coiled-coil domain-containing protein 102B
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Required for centriolar localization and for interaction with CEP250, CROCC, LRRC45 and NEK2
up seq anno comments: Substantial decrease in phosphorylation; when associated with A-21, A-22, A-135, A-142, A-194, A-210, A-401, A-404 and A-406.
up seq anno comments: Substantial decrease in phosphorylation; when associated with A-21, A-22, A-34, A-135, A-142, A-194, A-210, A-401 and A-404.
up seq anno comments: Substantial decrease in phosphorylation; when associated with A-21, A-22, A-34, A-135, A-142, A-194, A-210, A-401 and A-406.
up seq anno comments: Substantial decrease in phosphorylation; when associated with A-21, A-22, A-34, A-135, A-142, A-194, A-210, A-404 and A-406.
up seq anno comments: Substantial decrease in phosphorylation; when associated with A-21, A-22, A-34, A-135, A-142, A-194, A-401, A-404 and A-406.
up seq anno comments: Substantial decrease in phosphorylation; when associated with A-21, A-22, A-34, A-135, A-142, A-210, A-401, A-404 and A-406.
up seq anno comments: Substantial decrease in phosphorylation; when associated with A-21, A-22, A-34, A-135, A-194, A-210, A-401, A-404 and A-406.
up seq anno comments: Substantial decrease in phosphorylation; when associated with A-21, A-22, A-34, A-142, A-194, A-210, A-401, A-404 and A-406.
up seq anno comments: Substantial decrease in phosphorylation; when associated with A-21, A-34, A-135, A-142, A-194, A-210, A-401, A-404 and A-406.
up seq anno comments: Substantial decrease in phosphorylation; when associated with A-22, A-34, A-135, A-142, A-194, A-210, A-401, A-404 and A-406.
up seq anno feature ids: PRO_0000079308
up seq anno feature ids: VAR_022893
up seq anno feature ids: VAR_022894
up seq anno feature ids: VAR_047331
up seq anno feature ids: VAR_047332
up seq anno feature ids: VAR_047333
up seq anno feature ids: VAR_047334
up seq anno feature ids: VSP_014688
up seq anno feature ids: VSP_014689

9606:MCCD1
gene id: 9606:MCCD1
uniprot id: A0A1U9X802
uniprot id: P59942
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Transit Peptide
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Transit Peptide
up seq anno comments: Disordered
up seq anno comments: Mitochondrial coiled-coil domain protein 1
up seq anno comments: Mitochondrion
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000021657
up seq anno feature ids: PRO_5014275540
up seq anno feature ids: VAR_017161
up seq anno feature ids: VAR_017162
up seq anno feature ids: VAR_017163

9606:TM9SF3
gene id: 9606:TM9SF3
uniprot id: A0A024QYS2
uniprot id: Q9HD45
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Transmembrane 9 superfamily member
up seq anno comments: Transmembrane 9 superfamily member 3
up seq anno feature ids: PRO_0000034369
up seq anno feature ids: PRO_5007352953

9606:GAGE12D
gene id: 9606:GAGE12D
uniprot id: A1L429
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: G antigen 12B/C/D/E
up seq anno feature ids: PRO_0000311977

9606:DDI2
gene id: 9606:DDI2
uniprot id: Q5TDH0
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes aspartic protease activity.
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Protein DDI1 homolog 2
up seq anno comments: Ubiquitin-binding
up seq anno comments: Ubiquitin-like
up seq anno feature ids: PRO_0000287090
up seq anno feature ids: VSP_025297
up seq anno feature ids: VSP_025298

9606:OR2B3
gene id: 9606:OR2B3
uniprot id: A0A126GV76
uniprot id: O76000
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Putative olfactory receptor 2B3
up seq anno feature ids: PRO_0000150461

9606:KRT36
gene id: 9606:KRT36
uniprot id: O76013
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno comments: Coil 1A
up seq anno comments: Coil 1B
up seq anno comments: Coil 2
up seq anno comments: Head
up seq anno comments: IF rod
up seq anno comments: In isoform 2.
up seq anno comments: Keratin, type I cuticular Ha6
up seq anno comments: Linker 1
up seq anno comments: Linker 12
up seq anno comments: Stutter
up seq anno comments: Tail
up seq anno feature ids: PRO_0000063693
up seq anno feature ids: VAR_020306
up seq anno feature ids: VAR_024490
up seq anno feature ids: VAR_024491
up seq anno feature ids: VAR_049792
up seq anno feature ids: VAR_049793
up seq anno feature ids: VAR_049794
up seq anno feature ids: VSP_036403

9606:SMIM24
gene id: 9606:SMIM24
uniprot id: O75264
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: Small integral membrane protein 24
up seq anno feature ids: PRO_0000322598

9606:CCDC178
gene id: 9606:CCDC178
uniprot id: A1L4G8
uniprot id: B7ZM04
uniprot id: F8W7A7
uniprot id: Q5BJE1
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Coiled-coil domain-containing protein 178
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno feature ids: PRO_0000223316
up seq anno feature ids: VAR_047010
up seq anno feature ids: VAR_047011
up seq anno feature ids: VAR_047012
up seq anno feature ids: VAR_047013
up seq anno feature ids: VAR_061624
up seq anno feature ids: VSP_017257
up seq anno feature ids: VSP_017258
up seq anno feature ids: VSP_053415

9606:TBCEL
gene id: 9606:TBCEL
uniprot id: Q5QJ74
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno comments: LRR 1
up seq anno comments: LRR 2
up seq anno comments: LRR 3
up seq anno comments: LRR 4
up seq anno comments: LRR 5
up seq anno comments: LRR 6
up seq anno comments: LRR 7
up seq anno comments: LRRCT
up seq anno comments: Phosphoserine
up seq anno comments: Tubulin-specific chaperone cofactor E-like protein
up seq anno comments: Ubiquitin-like
up seq anno feature ids: PRO_0000239668

9606:CDCA8
gene id: 9606:CDCA8
uniprot id: Q53HL2
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Borealin
up seq anno comments: Decrease in AURKB activity and almost no phosphorylation by TTK; when associated with A-88; A-169 and A-230.
up seq anno comments: Decrease in AURKB activity and almost no phosphorylation by TTK; when associated with A-88; A-94 and A-230.
up seq anno comments: Decrease in AURKB activity and almost no phosphorylation by TTK; when associated with A-94; A-169 and A-230.
up seq anno comments: Decrease in AURKB activity and dimer disruption. Decrease in AURKB activity and almost no phosphorylation by TTK; when associated with A-88; A-94 and A-230.
up seq anno comments: Decrease in AURKB activity and no effect on the structure.
up seq anno comments: Decreases interaction with SOG1 and SOG2, abolishes localization to centromeres in prometaphase; when associated with A-106, A-171, A-185, A-189, A-199 and A-204.
up seq anno comments: Decreases interaction with SOG1 and SOG2, abolishes localization to centromeres in prometaphase; when associated with A-106, A-171, A-185, A-189, A-199 and A-219.
up seq anno comments: Decreases interaction with SOG1 and SOG2, abolishes localization to centromeres in prometaphase; when associated with A-106, A-171, A-185, A-189, A-204, A-219.
up seq anno comments: Decreases interaction with SOG1 and SOG2, abolishes localization to centromeres in prometaphase; when associated with A-106, A-171, A-185, A-199, A-204 and A-219.
up seq anno comments: Decreases interaction with SOG1 and SOG2, abolishes localization to centromeres in prometaphase; when associated with A-106, A-171, A-189, A-199, A-204 and A-219.
up seq anno comments: Decreases interaction with SOG1 and SOG2, abolishes localization to centromeres in prometaphase; when associated with A-106, A-185, A-189, A-199, A-204 and A-219.
up seq anno comments: Decreases interaction with SOG1 and SOG2, abolishes localization to centromeres in prometaphase; when associated with A-171, A-185, A-189, A-199, A-204 and A-219.
up seq anno comments: Disordered
up seq anno comments: Fails to exhibit normal localization to the nucleolus in interphase depleted cells.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Loss of binding to BIRC5; when associated with E-70.
up seq anno comments: Loss of binding to BIRC5; when associated with E-74.
up seq anno comments: Loss of binding to INCENP; when associated with E-35.
up seq anno comments: Loss of binding to INCENP; when associated with Y-46.
up seq anno comments: Loss of localization to the central spindle and midbody in anaphase or cytokinesis; when associated with E-17 and E-19.
up seq anno comments: Loss of localization to the central spindle and midbody in anaphase or cytokinesis; when associated with E-17 and E-20.
up seq anno comments: Loss of localization to the central spindle and midbody in anaphase or cytokinesis; when associated with E-19 and E-20.
up seq anno comments: No effect on the structure.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by AURKB
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by TTK
up seq anno comments: Polar residues
up seq anno comments: Required for centromere localization
up seq anno comments: Required for interaction with INCENP
up seq anno comments: Required for interaction with INCENP and BIRC5
up seq anno comments: Required for interaction with SENP3
up seq anno comments: Required to form a minimal CPC core complex that localizes to the central spindle and midbody and properly executes the role of the CPC during cytokinesis
up seq anno comments: Results in reduction but not abolition of phosphorylation.
up seq anno comments: Substantial loss of structure.
up seq anno feature ids: PRO_0000247075
up seq anno feature ids: VAR_027063

9606:GLT1D1
gene id: 9606:GLT1D1
uniprot id: Q96MS3
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Glycosyltransferase 1 domain-containing protein 1
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno feature ids: PRO_0000312203
up seq anno feature ids: VSP_029731
up seq anno feature ids: VSP_029732
up seq anno feature ids: VSP_029733

9606:RABL2B
gene id: 9606:RABL2B
uniprot id: A0A0S2SW46
uniprot id: Q9UNT1
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: GDP-locked form; mild defects in ciliary assembly. Loss of interaction with the intraflagellar transport (IFT) complex B via the IFT74-IFT81 heterodimer. Loss of interaction with CEP19. Loss of localization to the centrosome. Loss of localization to the base of the cilium.
up seq anno comments: GTP-locked form; interacts with the intraflagellar transport (IFT) complex B via the IFT74-IFT81 heterodimer. Localizes to the base of the cilium and accumulates within the cilium and at the tip in specific puncta.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Mild defects in ciliary assembly. Loss of interaction with the intraflagellar transport (IFT) complex B via the IFT74-IFT81 heterodimer. Interacts with CEP19.
up seq anno comments: Polar residues
up seq anno comments: Rab-like protein 2B
up seq anno feature ids: PRO_0000121264
up seq anno feature ids: VSP_005532
up seq anno feature ids: VSP_041061

9606:CLIC3
gene id: 9606:CLIC3
uniprot id: O95833
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Chloride intracellular channel protein 3
up seq anno comments: GST C-terminal
up seq anno comments: GST N-terminal
up seq anno comments: Helical
up seq anno comments: In soluble form
up seq anno comments: Phosphoserine
up seq anno comments: Required for insertion into the membrane
up seq anno feature ids: PRO_0000144207
up seq anno feature ids: VAR_020424

9606:AHNAK
gene id: 9606:AHNAK
uniprot id: B4DTV0
uniprot id: Q09666
uniprot id: Q9BVU3
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylmethionine
up seq anno comments: N6-methyllysine
up seq anno comments: Neuroblast differentiation-associated protein AHNAK
up seq anno comments: Nuclear localization signal
up seq anno comments: Omega-N-methylarginine
up seq anno comments: PDZ
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000064504
up seq anno feature ids: VAR_039058
up seq anno feature ids: VAR_039059
up seq anno feature ids: VAR_039060
up seq anno feature ids: VAR_039061
up seq anno feature ids: VAR_039062
up seq anno feature ids: VAR_039063
up seq anno feature ids: VAR_039064
up seq anno feature ids: VAR_039065
up seq anno feature ids: VAR_039066
up seq anno feature ids: VAR_039067
up seq anno feature ids: VAR_039068
up seq anno feature ids: VAR_061551
up seq anno feature ids: VAR_061552
up seq anno feature ids: VSP_044233
up seq anno feature ids: VSP_044234

9606:IFNA5
gene id: 9606:IFNA5
uniprot id: A0A7R8C382
uniprot id: P01569
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Signal Peptide
up seq anno comments: Interferon alpha-5
up seq anno feature ids: PRO_0000016362
up seq anno feature ids: PRO_5036402071

9606:MBTPS1
gene id: 9606:MBTPS1
uniprot id: Q14703
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Abolishes serine protease activity.
up seq anno comments: Abolishes serine protease activity. Does not promote FAM20C kinase activity.
up seq anno comments: Charge relay system
up seq anno comments: Cleavage; by autolysis
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In SEDKF; due to a nucleotide substitution that creates a dominant splice donor site in exon 9; two different type of transcripts are produced, a major non-functional alternatively spliced transcript with a 41-bp deletion of exon 9, loss of S-414 in the catalytic triad and premature truncation and a normally spliced transcript with variant G-365; the transcript with G-365 produces a catalytically active protein but is the less abundant.
up seq anno comments: In SEDKF; unknown pathological significance.
up seq anno comments: Lumenal
up seq anno comments: Membrane-bound transcription factor site-1 protease
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Peptidase S8
up seq anno comments: Phosphoserine; by FAM20C
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000027051
up seq anno feature ids: PRO_0000027052
up seq anno feature ids: VAR_051822
up seq anno feature ids: VAR_051823
up seq anno feature ids: VAR_082197
up seq anno feature ids: VAR_087565

9606:GPM6A
gene id: 9606:GPM6A
uniprot id: P51674
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-acetylmethionine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Neuronal membrane glycoprotein M6-a
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000159018
up seq anno feature ids: VAR_014895
up seq anno feature ids: VSP_045109
up seq anno feature ids: VSP_046098

9606:RBM24
gene id: 9606:RBM24
uniprot id: A8KAI7
uniprot id: Q9BX46
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Decreases p53/TP53 expression.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Increases p53/TP53 expression.
up seq anno comments: Necessary for interaction with EIF4E
up seq anno comments: RNA-binding protein 24
up seq anno comments: RRM
up seq anno feature ids: PRO_0000273370
up seq anno feature ids: VSP_022526
up seq anno feature ids: VSP_046775

9606:SFN
gene id: 9606:SFN
uniprot id: P31947
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: 14-3-3 protein sigma
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with phosphoserine on interacting protein
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000058643
up seq anno feature ids: VAR_048095
up seq anno feature ids: VSP_021768

9606:CAPN6
gene id: 9606:CAPN6
uniprot id: Q9Y6Q1
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: C2
up seq anno comments: Calpain catalytic
up seq anno comments: Calpain-6
up seq anno comments: Domain III
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno feature ids: PRO_0000207717
up seq anno feature ids: VAR_021084
up seq anno feature ids: VAR_036048
up seq anno feature ids: VAR_051515

9606:SACM1L
gene id: 9606:SACM1L
uniprot id: B4DVV3
uniprot id: E9PGZ4
uniprot id: Q9NTJ5
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Essential for phosphatidylinositol-4-phosphate phosphatase activity
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Loss of phosphatidylinositol-4-phosphate phosphatase activity.
up seq anno comments: Lumenal
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphatidylinositol-3-phosphatase SAC1
up seq anno comments: SAC
up seq anno feature ids: PRO_0000450055
up seq anno feature ids: VAR_038484
up seq anno feature ids: VSP_056068
up seq anno feature ids: VSP_056069

9606:ZNF274
gene id: 9606:ZNF274
uniprot id: A0A0A0MR47
uniprot id: Q96GC6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: C2H2-type
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: KRAB
up seq anno comments: KRAB 1
up seq anno comments: KRAB 2
up seq anno comments: Neurotrophin receptor-interacting factor homolog
up seq anno comments: SCAN box
up seq anno feature ids: PRO_0000047501
up seq anno feature ids: VAR_064920
up seq anno feature ids: VSP_006910
up seq anno feature ids: VSP_006911
up seq anno feature ids: VSP_006912
up seq anno feature ids: VSP_006913

9606:PAOX
gene id: 9606:PAOX
uniprot id: Q6QHF9
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Microbody targeting signal
up seq anno comments: N-acetylmethionine
up seq anno comments: Peroxisomal N(1)-acetyl-spermine/spermidine oxidase
up seq anno feature ids: PRO_0000099875
up seq anno feature ids: VSP_060446
up seq anno feature ids: VSP_060447
up seq anno feature ids: VSP_060448
up seq anno feature ids: VSP_060449
up seq anno feature ids: VSP_060450
up seq anno feature ids: VSP_060451

9606:ATP6V1G3
gene id: 9606:ATP6V1G3
uniprot id: Q96LB4
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: V-type proton ATPase subunit G 3
up seq anno feature ids: PRO_0000192904
up seq anno feature ids: VAR_048343
up seq anno feature ids: VSP_036423
up seq anno feature ids: VSP_036426

9606:DNASE1
gene id: 9606:DNASE1
uniprot id: P24855
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Deoxyribonuclease-1
up seq anno comments: Essential for enzymatic activity
up seq anno comments: In allele DNASE1*1.
up seq anno comments: In allele DNASE1*3.
up seq anno comments: In allele DNASE1*4.
up seq anno comments: In allele DNASE1*5.
up seq anno comments: In allele DNASE1*6.
up seq anno comments: In isoform 2.
up seq anno comments: Involved in actin-binding
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Nitration by tetranitromethane destroys a Ca(2+) binding site and inactivates enzyme
up seq anno feature ids: PRO_0000007277
up seq anno feature ids: VAR_002264
up seq anno feature ids: VAR_002265
up seq anno feature ids: VAR_002266
up seq anno feature ids: VAR_009300
up seq anno feature ids: VAR_009301
up seq anno feature ids: VAR_024434
up seq anno feature ids: VAR_024435
up seq anno feature ids: VAR_029172
up seq anno feature ids: VAR_029173
up seq anno feature ids: VAR_029174
up seq anno feature ids: VAR_029175
up seq anno feature ids: VSP_056974
up seq anno feature ids: VSP_056975
up seq anno feature ids: VSP_056976

9606:OSMR
gene id: 9606:OSMR
uniprot id: Q99650
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Box 1 motif
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Fibronectin type-III 1
up seq anno comments: Fibronectin type-III 2
up seq anno comments: Fibronectin type-III 3
up seq anno comments: Fibronectin type-III 4
up seq anno comments: Helical
up seq anno comments: In PLCA1.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Oncostatin-M-specific receptor subunit beta
up seq anno comments: Phosphoserine
up seq anno comments: WSXWS motif
up seq anno feature ids: PRO_0000259759
up seq anno feature ids: VAR_028972
up seq anno feature ids: VAR_028973
up seq anno feature ids: VAR_028974
up seq anno feature ids: VAR_028975
up seq anno feature ids: VAR_043512
up seq anno feature ids: VAR_043513
up seq anno feature ids: VAR_043514
up seq anno feature ids: VAR_043515
up seq anno feature ids: VAR_065810
up seq anno feature ids: VAR_065811
up seq anno feature ids: VAR_065812
up seq anno feature ids: VSP_021527
up seq anno feature ids: VSP_021528

9606:LNX1
gene id: 9606:LNX1
uniprot id: Q8TBB1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Disordered
up seq anno comments: E3 ubiquitin-protein ligase LNX
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with MAGEB18
up seq anno comments: NPXY motif
up seq anno comments: PDZ 1
up seq anno comments: PDZ 2
up seq anno comments: PDZ 3
up seq anno comments: PDZ 4
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: RING-type
up seq anno feature ids: PRO_0000055913
up seq anno feature ids: VSP_005733

9606:FERMT3
gene id: 9606:FERMT3
uniprot id: Q86UX7
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: FERM
up seq anno comments: Fermitin family homolog 3
up seq anno comments: In LAD3; unknown pathological significance; decreases cell adhesion in hematopoietic cells; requires 2 nucleotide substitutions.
up seq anno comments: In isoform 2.
up seq anno comments: PH
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno feature ids: PRO_0000219454
up seq anno feature ids: VAR_074597
up seq anno feature ids: VSP_009226

9606:CT45A2
gene id: 9606:CT45A2
uniprot id: P0DMV1
uniprot id: P0DMV2
uniprot id: Q5DJT8
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Sequence Conflict
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno comments: Cancer/testis antigen family 45 member A2
up seq anno comments: Cancer/testis antigen family 45 member A8
up seq anno comments: Cancer/testis antigen family 45 member A9
up seq anno feature ids: PRO_0000308947
up seq anno feature ids: PRO_0000433030
up seq anno feature ids: PRO_0000433031

9606:PLA2G2D
gene id: 9606:PLA2G2D
uniprot id: Q9UNK4
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Group IID secretory phospholipase A2
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000022755
up seq anno feature ids: VAR_012741
up seq anno feature ids: VAR_055387
up seq anno feature ids: VAR_055388
up seq anno feature ids: VAR_055389
up seq anno feature ids: VAR_055390
up seq anno feature ids: VAR_055391
up seq anno feature ids: VSP_060595
up seq anno feature ids: VSP_060596

9606:DUX4
gene id: 9606:DUX4
uniprot id: C3U3A0
uniprot id: Q9UBX2
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno comments: Abolishes activity as transcriptional activator.
up seq anno comments: Altered sequence specificity, with increased affinity for the DNA sequence 5'-TAATCTAATTA-3'.
up seq anno comments: Basic and acidic residues
up seq anno comments: Decreased DNA binding affinity.
up seq anno comments: Decreased activity as transcriptional activator.
up seq anno comments: Disordered
up seq anno comments: Double homeobox protein 4
up seq anno comments: Homeobox
up seq anno comments: Homeobox 1
up seq anno comments: Homeobox 2
up seq anno comments: Important for transcriptional activation of target genes
up seq anno comments: In isoform 2.
up seq anno comments: Loss of interaction with EP300 and CREBBP.
up seq anno comments: Mildly decreased DNA binding affinity.
up seq anno comments: No effect on DNA binding affinity.
up seq anno comments: No effect on activity as transcriptional activator.
up seq anno comments: Polar residues
up seq anno comments: Reduced activity as transcriptional activator.
up seq anno comments: Required for interaction with EP300 and CREBBP, and for transcriptional activation of target genes
up seq anno feature ids: PRO_0000252413
up seq anno feature ids: VSP_060075
up seq anno feature ids: VSP_060076

9606:PAX1
gene id: 9606:PAX1
uniprot id: A0A087WXV5
uniprot id: P15863
up seq anno parent labels: Chain
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: Found in a patient with neural tube defects; unknown pathological significance.
up seq anno comments: In OTFCS2; significantly reduced transactivation of the regulatory sequence of NKX3-2 in cells over-expressing the mutant sequence compared to cells over-expressing wild-type sequence.
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 2.
up seq anno comments: PAI subdomain
up seq anno comments: Paired
up seq anno comments: Paired box protein Pax-1
up seq anno comments: RED subdomain
up seq anno feature ids: PRO_0000050172
up seq anno feature ids: VAR_003787
up seq anno feature ids: VAR_055369
up seq anno feature ids: VAR_055370
up seq anno feature ids: VAR_055371
up seq anno feature ids: VAR_070922
up seq anno feature ids: VSP_039095
up seq anno feature ids: VSP_039096

9606:RAB38
gene id: 9606:RAB38
uniprot id: P57729
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Lipid Binding
up seq anno labels: Motif
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Effector region
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: Not methylated
up seq anno comments: Ras-related protein Rab-38
up seq anno comments: S-geranylgeranyl cysteine
up seq anno comments: S-palmitoyl cysteine
up seq anno feature ids: PRO_0000121251
up seq anno feature ids: VAR_036415

9606:PNMA1
gene id: 9606:PNMA1
uniprot id: Q8ND90
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno comments: Paraneoplastic antigen Ma1
up seq anno feature ids: PRO_0000155199
up seq anno feature ids: VAR_053595
up seq anno feature ids: VAR_053596

9606:MMAA
gene id: 9606:MMAA
uniprot id: Q8IVH4
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: Abolishes binding to GTP and GTPase activity; when associated with A-290.
up seq anno comments: Abolishes binding to GTP and GTPase activity; when associated with A-292.
up seq anno comments: In MMAA.
up seq anno comments: In MMAA; abolishes protein levels; decreases protein stability.
up seq anno comments: In MMAA; decreases protein levels.
up seq anno comments: In MMAA; decreases protein levels; decreases protein stability; no effect on binding to GDP; no effect on GTPase activity; no effect on interaction with MUT; impairs GTPase activity stimulation by MUT; reduces release of AdoCbl by MMAB.
up seq anno comments: In MMAA; decreases protein levels; highly decreases binding to GDP; no effect on GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB.
up seq anno comments: In MMAA; decreases protein levels; no effect on binding to GDP; decreases by 55% GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB.
up seq anno comments: In MMAA; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB.
up seq anno comments: In MMAA; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; no effect on interaction with MUT; impairs GTPase activity stimulation by MUT; reduces release of AdoCbl by MMAB.
up seq anno comments: In MMAA; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; no effect on interaction with MUT; impairs GTPase activity stimulation by MUT; slightly reduces release of AdoCbl by MMAB.
up seq anno comments: In MMAA; highly decreases protein levels.
up seq anno comments: In MMAA; highly decreases protein levels; decreases protein stability.
up seq anno comments: In MMAA; highly decreases protein levels; decreases protein stability; no effect on binding to GDP; no effect on GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB.
up seq anno comments: In MMAA; no effect on protein levels; no effect on binding to GDP; no effect on GTPase activity; abolishes interaction with MUT; impairs GTPase activity stimulation by MUT; highly reduces release of AdoCbl by MMAB.
up seq anno comments: In MMAA; no effect on protein levels; no effect on binding to GDP; no effect on GTPase activity; no effect on interaction with MUT; impairs GTPase activity stimulation by MUT; reduces release of AdoCbl by MMAB.
up seq anno comments: In MMAA; unknown pathological significance; decreases protein levels; no effect on binding to GDP; no effect on GTPase activity; no effect on interaction with MUT; impairs GTPase activity stimulation by MUT; reduces release of AdoCbl by MMAB.
up seq anno comments: Methylmalonic aciduria type A protein, mitochondrial
up seq anno comments: Mitochondrion
up seq anno feature ids: PRO_0000002285
up seq anno feature ids: VAR_017202
up seq anno feature ids: VAR_020423
up seq anno feature ids: VAR_020835
up seq anno feature ids: VAR_020836
up seq anno feature ids: VAR_020837
up seq anno feature ids: VAR_020838
up seq anno feature ids: VAR_038804
up seq anno feature ids: VAR_071919
up seq anno feature ids: VAR_071920
up seq anno feature ids: VAR_071921
up seq anno feature ids: VAR_071922
up seq anno feature ids: VAR_071923
up seq anno feature ids: VAR_080004
up seq anno feature ids: VAR_080005
up seq anno feature ids: VAR_080006
up seq anno feature ids: VAR_080007
up seq anno feature ids: VAR_080008
up seq anno feature ids: VAR_080009
up seq anno feature ids: VAR_080010
up seq anno feature ids: VAR_080011
up seq anno feature ids: VAR_080012
up seq anno feature ids: VAR_080013
up seq anno feature ids: VAR_080014
up seq anno feature ids: VAR_080015
up seq anno feature ids: VAR_080016
up seq anno feature ids: VAR_080017
up seq anno feature ids: VAR_080018
up seq anno feature ids: VAR_080019
up seq anno feature ids: VAR_080020
up seq anno feature ids: VAR_080021
up seq anno feature ids: VAR_080022
up seq anno feature ids: VAR_080023
up seq anno feature ids: VAR_080024
up seq anno feature ids: VAR_080025
up seq anno feature ids: VAR_080026
up seq anno feature ids: VAR_080027
up seq anno feature ids: VAR_080028

9606:UTP14C
gene id: 9606:UTP14C
uniprot id: Q5TAP6
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: U3 small nucleolar RNA-associated protein 14 homolog C
up seq anno feature ids: PRO_0000065736
up seq anno feature ids: VAR_022812
up seq anno feature ids: VAR_022813
up seq anno feature ids: VAR_051482

9606:SUMO1
gene id: 9606:SUMO1
uniprot id: P63165
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: (Microbial infection) Interaction with Tula hantavirus
up seq anno comments: Abolishes binding to PIAS2.
up seq anno comments: Abolishes sumoylation of ZBED1.
up seq anno comments: Glycyl lysine isopeptide (Gly-Lys) (interchain with K-? in acceptor proteins)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with PIAS2
up seq anno comments: N-acetylserine
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno comments: Small ubiquitin-related modifier 1
up seq anno comments: Ubiquitin-like
up seq anno feature ids: PRO_0000035939
up seq anno feature ids: PRO_0000035940
up seq anno feature ids: VSP_046756

9606:BMPER
gene id: 9606:BMPER
uniprot id: A0A090N7U6
uniprot id: Q8N8U9
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: BMP-binding endothelial regulator protein
up seq anno comments: In DSD.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: TIL
up seq anno comments: VWFC
up seq anno comments: VWFC 1
up seq anno comments: VWFC 2
up seq anno comments: VWFC 3
up seq anno comments: VWFC 4
up seq anno comments: VWFC 5
up seq anno comments: VWFD
up seq anno feature ids: PRO_0000020820
up seq anno feature ids: PRO_5001861310
up seq anno feature ids: VAR_028166
up seq anno feature ids: VAR_065823

9606:CDC37
gene id: 9606:CDC37
uniprot id: Q16543
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Hsp90 co-chaperone Cdc37
up seq anno comments: Hsp90 co-chaperone Cdc37, N-terminally processed
up seq anno comments: N-acetylmethionine
up seq anno comments: N-acetylvaline; in Hsp90 co-chaperone Cdc37, N-terminally processed
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Removed; alternate
up seq anno feature ids: PRO_0000195057
up seq anno feature ids: PRO_0000423197
up seq anno feature ids: VAR_022220

9606:MNX1
gene id: 9606:MNX1
uniprot id: P50219
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: Homeobox
up seq anno comments: In CURRAS.
up seq anno comments: In isoform 2.
up seq anno comments: Motor neuron and pancreas homeobox protein 1
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000048905
up seq anno feature ids: VAR_017874
up seq anno feature ids: VAR_017875
up seq anno feature ids: VAR_017876
up seq anno feature ids: VAR_017877
up seq anno feature ids: VAR_017878
up seq anno feature ids: VAR_017879
up seq anno feature ids: VAR_017880
up seq anno feature ids: VAR_017881
up seq anno feature ids: VAR_017882
up seq anno feature ids: VAR_068473
up seq anno feature ids: VAR_068474
up seq anno feature ids: VSP_046773
up seq anno feature ids: VSP_046774

9606:AQP10
gene id: 9606:AQP10
uniprot id: Q96PS8
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: INTRAMEM
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: INTRAMEM
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Abolishes N-glycosylation.
up seq anno comments: Abolishes permeability to glycerol.
up seq anno comments: Aquaporin-10
up seq anno comments: Cytoplasmic
up seq anno comments: Discontinuously helical
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Increased permeability to glycerol at acidic pH.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: NPA 1
up seq anno comments: NPA 2
up seq anno comments: Nearly abolishes permeability to glycerol.
up seq anno feature ids: PRO_0000063967
up seq anno feature ids: VAR_033519
up seq anno feature ids: VAR_050063
up seq anno feature ids: VSP_010211

9606:H3C4
gene id: 9606:H3C4
uniprot id: P68431
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno comments: 5-glutamyl dopamine; alternate
up seq anno comments: 5-glutamyl serotonin; alternate
up seq anno comments: ADP-ribosylserine; alternate
up seq anno comments: Allysine; alternate
up seq anno comments: Asymmetric dimethylarginine; by CARM1; alternate
up seq anno comments: Asymmetric dimethylarginine; by PRMT6; alternate
up seq anno comments: Citrulline
up seq anno comments: Citrulline; alternate
up seq anno comments: Disordered
up seq anno comments: Histone H3.1
up seq anno comments: In GLM; non-brain stem pediatric glioblastoma and diffuse intrinsic pontine glioma; somatic mutation; results in a global decrease of H3K27me3 levels.
up seq anno comments: N6,N6,N6-trimethyllysine; alternate
up seq anno comments: N6,N6-dimethyllysine; alternate
up seq anno comments: N6-(2-hydroxyisobutyryl)lysine; alternate
up seq anno comments: N6-(beta-hydroxybutyryl)lysine; alternate
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-butyryllysine; alternate
up seq anno comments: N6-crotonyllysine; alternate
up seq anno comments: N6-decanoyllysine
up seq anno comments: N6-glutaryllysine; alternate
up seq anno comments: N6-lactoyllysine; alternate
up seq anno comments: N6-methyllysine
up seq anno comments: N6-methyllysine; alternate
up seq anno comments: N6-methyllysine; by EHMT2; alternate
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; alternate; by AURKB, AURKC and RPS6KA5
up seq anno comments: Phosphoserine; alternate; by AURKB, AURKC, RPS6KA3, RPS6KA4 and RPS6KA5
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by HASPIN
up seq anno comments: Phosphothreonine; by PKC
up seq anno comments: Phosphothreonine; by PKC and CHEK1
up seq anno comments: Phosphotyrosine
up seq anno comments: Probable disease-associated variant found in pediatric undifferentiated soft tissue sarcoma samples; somatic mutation; also found in a subset of human papillomavirus-negative head and neck squamous cell carcinomas; results in global decrease of H3K36me2 and H3K36me3 levels and increased H3K27me3 levels.
up seq anno comments: Probable disease-associated variant found in pediatric undifferentiated soft tissue sarcoma samples; somatic mutation; results in global decrease of H3K36me2 and H3K36me3 levels and increased H3K27me3 levels.
up seq anno comments: Removed
up seq anno comments: Symmetric dimethylarginine; by PRMT5; alternate
up seq anno feature ids: PRO_0000221245
up seq anno feature ids: VAR_079018
up seq anno feature ids: VAR_079019
up seq anno feature ids: VAR_079020

9606:TARBP1
gene id: 9606:TARBP1
uniprot id: Q13395
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno comments: Probable methyltransferase TARBP1
up seq anno feature ids: PRO_0000273201
up seq anno feature ids: VAR_030101
up seq anno feature ids: VAR_030102
up seq anno feature ids: VAR_030103
up seq anno feature ids: VAR_030104
up seq anno feature ids: VAR_030105
up seq anno feature ids: VAR_030106
up seq anno feature ids: VAR_030107
up seq anno feature ids: VAR_030108
up seq anno feature ids: VAR_030109
up seq anno feature ids: VAR_061907

9606:DIP2C
gene id: 9606:DIP2C
uniprot id: A0A0U1RQW6
uniprot id: Q86XV3
uniprot id: Q9Y2E4
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: AMP-dependent synthetase/ligase
up seq anno comments: Basic and acidic residues
up seq anno comments: DMAP1-binding
up seq anno comments: Disco-interacting protein 2 homolog C
up seq anno comments: Disordered
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000050782
up seq anno feature ids: VAR_035905
up seq anno feature ids: VAR_035906
up seq anno feature ids: VAR_035907
up seq anno feature ids: VSP_056898
up seq anno feature ids: VSP_056899
up seq anno feature ids: VSP_056900

9606:CYP4X1
gene id: 9606:CYP4X1
uniprot id: Q8N118
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Cytochrome P450 4X1
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: axial binding residue
up seq anno feature ids: PRO_0000051862
up seq anno feature ids: VSP_045889
up seq anno feature ids: VSP_045890

9606:FAIM2
gene id: 9606:FAIM2
uniprot id: Q9BWQ8
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: Protein lifeguard 2
up seq anno feature ids: PRO_0000179087
up seq anno feature ids: VSP_056989

9606:NMT2
gene id: 9606:NMT2
uniprot id: B3KT39
uniprot id: O60551
uniprot id: Q5VUC6
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Disordered
up seq anno comments: Glycylpeptide N-tetradecanoyltransferase 2
up seq anno comments: Glycylpeptide N-tetradecanoyltransferase C-terminal
up seq anno comments: Glycylpeptide N-tetradecanoyltransferase N-terminal
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000064226

9606:IRAK3
gene id: 9606:IRAK3
uniprot id: Q9Y616
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes dimerization.
up seq anno comments: Abolishes phosphorylation. Abolishes interaction with PIN1. Reduces protein stability.
up seq anno comments: Cis/trans isomerization of proline peptide bond; by PIN1; dependent on Ser-110 phosphorylation
up seq anno comments: Death
up seq anno comments: Disordered
up seq anno comments: Enhances dimerization.
up seq anno comments: In isoform 2.
up seq anno comments: Interchain (with C-202); in linked form
up seq anno comments: Interchain (with C-287); in linked form
up seq anno comments: Interleukin-1 receptor-associated kinase 3
up seq anno comments: May be associated with ASRT5.
up seq anno comments: May be associated with ASRT5; abolishes phosphorylation of Ser-110; abolishes interaction with PIN1; no effect on cytoplasmic localization; reduces protein stability.
up seq anno comments: No effect on the interaction with PIN1.
up seq anno comments: Phosphomimic. Slight decrease in the interaction with PIN1. Weak interaction with PIN1 in absence of IL33-mediated dendritic cell stimulation. Increases resistant to degradation. Localizes to the nucleus in absence of stimulus. Does not affect isomerization of Pro-111 peptide bond.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by IRAK1
up seq anno comments: Protein kinase
up seq anno feature ids: PRO_0000086033
up seq anno feature ids: VAR_019812
up seq anno feature ids: VAR_031077
up seq anno feature ids: VAR_033901
up seq anno feature ids: VAR_035212
up seq anno feature ids: VAR_035213
up seq anno feature ids: VAR_035214
up seq anno feature ids: VAR_035215
up seq anno feature ids: VAR_035216
up seq anno feature ids: VAR_040581
up seq anno feature ids: VAR_040582
up seq anno feature ids: VAR_040583
up seq anno feature ids: VAR_040584
up seq anno feature ids: VAR_040585
up seq anno feature ids: VAR_040586
up seq anno feature ids: VAR_040587
up seq anno feature ids: VSP_041020

9606:KRT20
gene id: 9606:KRT20
uniprot id: P35900
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno comments: Cleavage; by caspases
up seq anno comments: Coil 1A
up seq anno comments: Coil 1B
up seq anno comments: Coil 2
up seq anno comments: Found in a renal cell carcinoma sample; somatic mutation.
up seq anno comments: Head
up seq anno comments: IF rod
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: Keratin, type I cytoskeletal 20
up seq anno comments: Leads to collapsed filaments.
up seq anno comments: Linker 1
up seq anno comments: Linker 12
up seq anno comments: No effect on keratin filament organization.
up seq anno comments: Phosphoserine; by MAPKAPK2, MAPKAPK3 and PKC
up seq anno comments: Promotes keratin filament disassembly.
up seq anno comments: Tail
up seq anno feature ids: PRO_0000063675
up seq anno feature ids: VAR_024489
up seq anno feature ids: VAR_036367
up seq anno feature ids: VAR_064726

9606:ITPRID2
gene id: 9606:ITPRID2
uniprot id: E7EUL7
uniprot id: E9PHV5
uniprot id: P28290
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: ITPR-interacting
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Protein ITPRID2
up seq anno comments: Sperm-specific antigen 2 C-terminal
up seq anno feature ids: PRO_0000072211
up seq anno feature ids: VAR_031186
up seq anno feature ids: VAR_031187
up seq anno feature ids: VAR_056998
up seq anno feature ids: VAR_059724
up seq anno feature ids: VSP_023865
up seq anno feature ids: VSP_023866
up seq anno feature ids: VSP_023867

9606:SYP
gene id: 9606:SYP
uniprot id: P08247
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In XLID96.
up seq anno comments: In XLID96; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: MARVEL
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphotyrosine
up seq anno comments: Repeats, Gly-rich
up seq anno comments: Synaptophysin
up seq anno comments: Vesicular
up seq anno feature ids: PRO_0000179161
up seq anno feature ids: VAR_062983
up seq anno feature ids: VAR_062984
up seq anno feature ids: VAR_062985
up seq anno feature ids: VAR_062986
up seq anno feature ids: VAR_062987
up seq anno feature ids: VAR_062988
up seq anno feature ids: VAR_062989
up seq anno feature ids: VAR_079223
up seq anno feature ids: VSP_056897

9606:SEPTIN4
gene id: 9606:SEPTIN4
uniprot id: O43236
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: G1 motif
up seq anno comments: G3 motif
up seq anno comments: G4 motif
up seq anno comments: In isoform 2 and isoform ARTS.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 7.
up seq anno comments: In isoform 8.
up seq anno comments: In isoform ARTS.
up seq anno comments: Loss of TGF-beta-induced apoptosis. No translocation to the nucleus following TGF-beta treatment. Loss of XIAP-binding.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Septin-4
up seq anno comments: Septin-type G
up seq anno feature ids: PRO_0000173519
up seq anno feature ids: VAR_051935
up seq anno feature ids: VAR_083877
up seq anno feature ids: VSP_006050
up seq anno feature ids: VSP_038302
up seq anno feature ids: VSP_038303
up seq anno feature ids: VSP_038304
up seq anno feature ids: VSP_038305
up seq anno feature ids: VSP_038306
up seq anno feature ids: VSP_060788
up seq anno feature ids: VSP_060789

9606:AKAP13
gene id: 9606:AKAP13
uniprot id: A8MYJ1
uniprot id: B0AZU4
uniprot id: Q12802
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: A-kinase anchor protein 13
up seq anno comments: Abolishes guanyl nucleotide exchange activity toward RHOA.
up seq anno comments: Abolishes interaction with PRKAR2A and leads to constitutive activation of RHOA; when associated with P-1260.
up seq anno comments: Abolishes interaction with PRKAR2A.
up seq anno comments: Abolishes interaction with PRKAR2Aand leads to constitutive activation of RHOA; when associated with P-1251.
up seq anno comments: Abolishes interaction with YWHAB, leading to constitutive activation of RHOA and MAPK14.
up seq anno comments: Basic and acidic residues
up seq anno comments: DH
up seq anno comments: Decreases guanyl nucleotide exchange activity toward RHOA.
up seq anno comments: Disordered
up seq anno comments: Impairs interaction with IKBKB.
up seq anno comments: Important for interaction with MAP2K3
up seq anno comments: Important for interaction with PRKAR2A
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Interaction with ESR1
up seq anno comments: Loss of guanyl nucleotide exchange activity toward RHOA.
up seq anno comments: N6-methyllysine
up seq anno comments: PH
up seq anno comments: Phorbol-ester/DAG-type
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Reduces guanyl nucleotide exchange activity toward RHOA.
up seq anno feature ids: PRO_0000080963
up seq anno feature ids: VAR_030925
up seq anno feature ids: VAR_030926
up seq anno feature ids: VAR_030927
up seq anno feature ids: VAR_030928
up seq anno feature ids: VAR_030929
up seq anno feature ids: VAR_030930
up seq anno feature ids: VAR_030931
up seq anno feature ids: VAR_030932
up seq anno feature ids: VAR_030933
up seq anno feature ids: VAR_030934
up seq anno feature ids: VAR_030935
up seq anno feature ids: VAR_030936
up seq anno feature ids: VAR_051986
up seq anno feature ids: VAR_051987
up seq anno feature ids: VSP_023486

9606:TADA2B
gene id: 9606:TADA2B
uniprot id: Q86TJ2
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: SANT
up seq anno comments: Transcriptional adapter 2-beta
up seq anno comments: ZZ-type
up seq anno feature ids: PRO_0000313711
up seq anno feature ids: VSP_030109
up seq anno feature ids: VSP_030110

9606:HLA-DOA
gene id: 9606:HLA-DOA
uniprot id: A0A1V0E3M7
uniprot id: A0A1V0E3N1
uniprot id: A0A1V0E3N3
uniprot id: A0A1V0E3N6
uniprot id: A0A1V0E3N7
uniprot id: A0A1V0E3P0
uniprot id: A0A1V0E3P1
uniprot id: A0A1V0E3P3
uniprot id: A0A1V0E3P6
uniprot id: A0A1V0E3P8
uniprot id: A0A1V0E3P9
uniprot id: A0A1V0E3Q1
uniprot id: A0A1V0E3Q2
uniprot id: A0A1V0E3Q3
uniprot id: A0A1V0E3Q4
uniprot id: A0A1V0E3Q5
uniprot id: A0A1V0E3Q6
uniprot id: A0A1V0E3Q7
uniprot id: A0A1V0E3Q8
uniprot id: A0A1V0E3R0
uniprot id: A0A1V0E3R3
uniprot id: A0A1V0E3R4
uniprot id: A0A1V0E3R6
uniprot id: A0A1V0E3R8
uniprot id: A0A1V0E3S0
uniprot id: A0A1V0E3S4
uniprot id: A0A1V0E3S6
uniprot id: A0A1V0E3S7
uniprot id: A0A1V0E3T1
uniprot id: P06340
uniprot id: X5CF87
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Alpha-1
up seq anno comments: Alpha-2
up seq anno comments: Connecting peptide
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: HLA class II histocompatibility antigen, DO alpha chain
up seq anno comments: Helical
up seq anno comments: Ig-like
up seq anno comments: Ig-like C1-type
up seq anno comments: In allele DOA*01:02.
up seq anno comments: In allele DOA*01:03.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000018962
up seq anno feature ids: PRO_5010693746
up seq anno feature ids: PRO_5010694651
up seq anno feature ids: PRO_5010695548
up seq anno feature ids: PRO_5010695558

9606:RRAS2
gene id: 9606:RRAS2
uniprot id: P62070
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Propeptide
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Cysteine methyl ester
up seq anno comments: Does not affect lysine fatty-acylation.
up seq anno comments: Effector region
up seq anno comments: In NS12; also found as somatic mutation in ovarian cancer; increased MAPK signaling; results in craniofacial patterning defects when expressed in zebrafish.
up seq anno comments: In NS12; associated in cis with C-75; increased MAPK signaling; results in craniofacial patterning defects when expressed in zebrafish; results in craniofacial patterning defects in zebrafish when associated with C-75.
up seq anno comments: In NS12; decreased GAP-stimulated GTPase activity leading to an accumulation of RRAS2 in its GTP-bound active state; increased MAPK signaling; loss of interaction with RASSF5.
up seq anno comments: In NS12; increased MAPK signaling.
up seq anno comments: In NS12; increased MAPK signaling; results in craniofacial patterning defects when expressed in zebrafish.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Likely benign variant; associated in cis with H-72 in a patient with Noonan syndrome; has no effect on MAPK signaling; has no effect on craniofacial patterning when expressed in zebrafish; results in craniofacial patterning defects in zebrafish when associated with H-72.
up seq anno comments: N-acetylalanine
up seq anno comments: N6-palmitoyl lysine
up seq anno comments: Phosphoserine
up seq anno comments: Ras-related protein R-Ras2
up seq anno comments: Removed
up seq anno comments: Removed in mature form
up seq anno comments: S-farnesyl cysteine
up seq anno comments: S-palmitoyl cysteine
up seq anno comments: Strongly decreased lysine fatty-acylation.
up seq anno feature ids: PRO_0000082652
up seq anno feature ids: PRO_0000281302
up seq anno feature ids: VAR_006848
up seq anno feature ids: VAR_083149
up seq anno feature ids: VAR_083150
up seq anno feature ids: VAR_083151
up seq anno feature ids: VAR_083152
up seq anno feature ids: VAR_083153
up seq anno feature ids: VAR_083154
up seq anno feature ids: VSP_043066
up seq anno feature ids: VSP_044485
up seq anno feature ids: VSP_055842

9606:OR5D14
gene id: 9606:OR5D14
uniprot id: Q8NGL3
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 5D14
up seq anno feature ids: PRO_0000150592
up seq anno feature ids: VAR_034221
up seq anno feature ids: VAR_034222

9606:KIR3DL3
gene id: 9606:KIR3DL3
uniprot id: A0A8I5QEB2
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Signal Peptide
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: Immunoglobulin subtype
up seq anno comments: Immunoglobulin subtype 2
up seq anno feature ids: PRO_5040096645

9606:FUT5
gene id: 9606:FUT5
uniprot id: K7ENC0
uniprot id: Q11128
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase FUT5
up seq anno comments: Cytoplasmic
up seq anno comments: Decreases both alpha-(1,3)-fucosyltransferase and alpha-(1,4)-fucosyltransferase activity of 50%.
up seq anno comments: Does not affect 4-galactosyl-N-acetylglucosaminide 3-alpha-L- and 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity; when associated with T-101; H-105; K-111 and T-118.
up seq anno comments: Does not affect 4-galactosyl-N-acetylglucosaminide 3-alpha-L- and 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity; when associated with T-101; H-105; R-110 and K-111.
up seq anno comments: Does not affect 4-galactosyl-N-acetylglucosaminide 3-alpha-L- and 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity; when associated with T-101; H-105; R-110 and T-118.
up seq anno comments: Does not affect 4-galactosyl-N-acetylglucosaminide 3-alpha-L- and 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity; when associated with T-101; R-110; K-111 and T-118.
up seq anno comments: Does not affect 4-galactosyl-N-acetylglucosaminide 3-alpha-L- and 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity; when associated withH-105; R-110; K-111 and T-118.
up seq anno comments: Does not affect 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase activity with type 2 oligosaccharide acceptor; when associated with I-87 and S-92. Increases significantly 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity with type 1 oligosaccharide acceptors; when associated with I-87 and S-92. Decreases of 50% the 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase activity with type 2 glycolipid nLc4Cer; when associated with I-87 and S-92. Increases significantly the 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity with type 1 glycolipid Lc4Cer; when associated with I-87 and S-92.
up seq anno comments: Does not affect 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase activity; when associated with H-86 and I-87. Increases significantly 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity; when associated with H-86 and I-87. Decreases of 50% the 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase activity with type 2 glycolipid nLc4Cer; when associated with H-86 and I-87. Increases significantly the 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity with type 1 glycolipid Lc4Cer; when associated with H-86 and I-87.
up seq anno comments: Does not affect 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase activity; when associated with H-86 and S-92. Increases significantly 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity; when associated with H-86 and S-92. Decreases of 50% the 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase activity with type 2 glycolipid nLc4Cer; when associated with H-86 and S-92. Increases significantly the 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity with type 1 glycolipid Lc4Cer; when associated with H-86 and S-92.
up seq anno comments: Does not affect alpha-(1,3)-fucosyltransferase activity. Loss of alpha-(1,4)-fucosyltransferase activity.
up seq anno comments: Fucosyltransferase N-terminal
up seq anno comments: Helical
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: Increases alpha-(1,3)-fucosyltransferase activity. Loss of alpha-(1,4)-fucosyltransferase activity. Loss of site-specific fucosylation; when associated with E-125 and V-126. Reverses the preferential fucosylation properties leading to production of 72% of sialyl-lewis x; when associated with K-87; E-125 and V-126. Significantly decreases to cell-surface expression of VIM2 antigen; when associated with K-87; E-125 and V-126.
up seq anno comments: Loss of site-specific fucosylation; when associated with R-124 and E-125. Reverses the preferential fucosylation properties leading to production of 72% of sialyl-lewis x; when associated with K-87; R-124 and E-125. Significantly decreases to cell-surface expression of VIM2 antigen; when associated with K-87; R-124 and E-125.
up seq anno comments: Loss of site-specific fucosylation; when associated with R-124 and V-126. Reverses the preferential fucosylation properties leading to production of 72% of sialyl-lewis x; when associated with K-87; R-124 and V-126. Significantly decreases to cell-surface expression of VIM2 antigen; when associated with K-87; R-124 and V-126.
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Reverses the preferential fucosylation properties leading to production of 72% of sialyl-lewis x; when associated with R-124; E-125 and V-126. Significantly decreases cell-surface expression of VIM2 antigen; when associated with R-124; E-125 and V-126.
up seq anno feature ids: PRO_0000221105
up seq anno feature ids: VAR_022122
up seq anno feature ids: VAR_055845

9606:PPP6C
gene id: 9606:PPP6C
uniprot id: A0A024R861
uniprot id: O00743
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Found in patients with melanomas; decreased protein phosphatase activity, leading to increased phosphorylation of STING1.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-acetylmethionine
up seq anno comments: Proton donor
up seq anno comments: Removed; alternate
up seq anno comments: Serine/threonine-protein phosphatase 6 catalytic subunit
up seq anno comments: Serine/threonine-protein phosphatase 6 catalytic subunit, N-terminally processed
up seq anno feature ids: PRO_0000058877
up seq anno feature ids: PRO_0000424504
up seq anno feature ids: VAR_085528
up seq anno feature ids: VAR_085529
up seq anno feature ids: VAR_085530
up seq anno feature ids: VSP_038376
up seq anno feature ids: VSP_041158

9606:EYA2
gene id: 9606:EYA2
uniprot id: E7ETN2
uniprot id: O00167
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes interaction with SIX1.
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Eyes absent homolog 2
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Nucleophile
up seq anno comments: Polar residues
up seq anno comments: Proton donor
up seq anno comments: Strongly reduces SIX1 binding.
up seq anno feature ids: PRO_0000218646
up seq anno feature ids: VAR_048964
up seq anno feature ids: VAR_048965
up seq anno feature ids: VSP_001490
up seq anno feature ids: VSP_001491

9606:PLEKHG1
gene id: 9606:PLEKHG1
uniprot id: Q5JYA6
uniprot id: Q9ULL1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: DH
up seq anno comments: Disordered
up seq anno comments: PH
up seq anno comments: Phosphoserine
up seq anno comments: Pleckstrin homology domain-containing family G member 1
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000080964
up seq anno feature ids: VAR_051988
up seq anno feature ids: VAR_051989
up seq anno feature ids: VAR_051990
up seq anno feature ids: VAR_061797

9606:MGAT4C
gene id: 9606:MGAT4C
uniprot id: Q9UBM8
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C
up seq anno comments: Cytoplasmic
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In isoform 2.
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000288596
up seq anno feature ids: VAR_032447
up seq anno feature ids: VSP_056096

9606:TAS2R31
gene id: 9606:TAS2R31
uniprot id: P59538
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Taste receptor type 2 member 31
up seq anno feature ids: PRO_0000082309
up seq anno feature ids: VAR_030684
up seq anno feature ids: VAR_030685
up seq anno feature ids: VAR_030686
up seq anno feature ids: VAR_030687
up seq anno feature ids: VAR_030688
up seq anno feature ids: VAR_062090

9606:CNNM3
gene id: 9606:CNNM3
uniprot id: Q8NE01
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: CBS 1
up seq anno comments: CBS 2
up seq anno comments: CNNM transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: Metal transporter CNNM3
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000295763
up seq anno feature ids: VSP_027082
up seq anno feature ids: VSP_027083

9606:CPO
gene id: 9606:CPO
uniprot id: Q8IVL8
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Lipid Binding
up seq anno labels: Propeptide
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Carboxypeptidase O
up seq anno comments: GPI-anchor amidated aspartate
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Proton donor/acceptor
up seq anno comments: Removed in mature form
up seq anno feature ids: PRO_0000252401
up seq anno feature ids: PRO_0000437881
up seq anno feature ids: VAR_027850
up seq anno feature ids: VAR_027851
up seq anno feature ids: VAR_036012

9606:CASS4
gene id: 9606:CASS4
uniprot id: B4DII4
uniprot id: Q9NQ75
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Cas scaffolding protein family member 4
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: SH3
up seq anno feature ids: PRO_0000079425
up seq anno feature ids: VAR_054084
up seq anno feature ids: VAR_054085
up seq anno feature ids: VAR_054086
up seq anno feature ids: VAR_054087
up seq anno feature ids: VSP_003806
up seq anno feature ids: VSP_003807

9606:TAF7
gene id: 9606:TAF7
uniprot id: Q15545
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno comments: 50% reduction in TAF1-binding, reduced incorporation of TAF7 into TFIID complexes.
up seq anno comments: Abolishes methylation in vitro.
up seq anno comments: Disordered
up seq anno comments: Phosphoserine
up seq anno comments: Reduced H3 acetylation and transcription at target promoters.
up seq anno comments: Transcription initiation factor TFIID subunit 7
up seq anno comments: [KR]-[STA]-K motif
up seq anno feature ids: PRO_0000118881
up seq anno feature ids: VAR_005629

9606:GPR82
gene id: 9606:GPR82
uniprot id: Q96P67
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Probable G-protein coupled receptor 82
up seq anno feature ids: PRO_0000069588

9606:NFAM1
gene id: 9606:NFAM1
uniprot id: Q8NET5
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Abolishes the ITAM-mediated-activating activity.
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: ITAM
up seq anno comments: Ig-like V-type
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: NFAT activation molecule 1
up seq anno comments: Phosphotyrosine
up seq anno feature ids: PRO_0000015046
up seq anno feature ids: VAR_049964
up seq anno feature ids: VAR_049965

9606:MOAP1
gene id: 9606:MOAP1
uniprot id: Q96BY2
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno comments: Abolished interaction with ATG8 proteins MAP1LC3A, MAP1LC3B and MAP1LC3C.
up seq anno comments: Abrogates interaction with BAX, resulting in a nonapoptotic protein.
up seq anno comments: BH3-like
up seq anno comments: Does not affect interaction with ATG8 proteins MAP1LC3A, MAP1LC3B and MAP1LC3C.
up seq anno comments: LIR
up seq anno comments: Loss of RASSF1-binding; interacts with BAX in the absence of RASSF1.
up seq anno comments: Modulator of apoptosis 1
up seq anno comments: No effect on RASSF1-binding.
up seq anno comments: No effect on RASSF1-binding; interacts with BAX in the absence of RASSF1.
up seq anno comments: RASSF1-binding
up seq anno comments: Weakened interaction with BAX, resulting in a nonapoptotic protein.
up seq anno feature ids: PRO_0000155205

9606:SPATA7
gene id: 9606:SPATA7
uniprot id: Q9P0W8
uniprot id: V9HVY9
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: Found in a patient with LCA3.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Polar residues
up seq anno comments: Spermatogenesis-associated protein 7
up seq anno feature ids: PRO_0000072104
up seq anno feature ids: VAR_016912
up seq anno feature ids: VAR_051370
up seq anno feature ids: VAR_051371
up seq anno feature ids: VAR_051372
up seq anno feature ids: VAR_051373
up seq anno feature ids: VAR_051374
up seq anno feature ids: VAR_067191
up seq anno feature ids: VSP_008341
up seq anno feature ids: VSP_008342

9606:HIGD2A
gene id: 9606:HIGD2A
uniprot id: Q9BW72
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: HIG1
up seq anno comments: HIG1 domain family member 2A, mitochondrial
up seq anno comments: Helical
up seq anno comments: Mitochondrial matrix
up seq anno comments: N-acetylalanine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000215777

9606:TNRC18
gene id: 9606:TNRC18
uniprot id: A3KMH2
uniprot id: O15417
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Acidic residues
up seq anno comments: BAH
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 4.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Trinucleotide repeat-containing gene 18 protein
up seq anno feature ids: PRO_0000299142
up seq anno feature ids: VAR_042722
up seq anno feature ids: VSP_033124
up seq anno feature ids: VSP_033126
up seq anno feature ids: VSP_033127
up seq anno feature ids: VSP_033128
up seq anno feature ids: VSP_033129

9606:AP2S1
gene id: 9606:AP2S1
uniprot id: M0QYZ2
uniprot id: M0R0N4
uniprot id: P53680
uniprot id: X6R390
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: AP complex mu/sigma subunit
up seq anno comments: AP-2 complex subunit sigma
up seq anno comments: In HHC3; there is a rightward shift in Ca(2+)concentration-response curves with the mutant compared to wild-type, indicating a decrease in the sensitivity of cells expressing CASR to extracellular calcium.
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000193804
up seq anno feature ids: VAR_069570
up seq anno feature ids: VAR_069571
up seq anno feature ids: VAR_069572
up seq anno feature ids: VSP_017352

9606:INCENP
gene id: 9606:INCENP
uniprot id: Q9NQS7
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Abolishes interaction with CBX5 and AURKB.
up seq anno comments: Abolishes interaction with CBX5.
up seq anno comments: Basic and acidic residues
up seq anno comments: Decreases interaction with CBX5, abolishes localization to centromeres in interphase; when associated with A-167 and A-169.
up seq anno comments: Decreases interaction with CBX5, abolishes localization to centromeres in interphase; when associated with A-167 and A-171.
up seq anno comments: Decreases interaction with CBX5, abolishes localization to centromeres in interphase; when associated with A-169 and A-171.
up seq anno comments: Disordered
up seq anno comments: IN box
up seq anno comments: In isoform 2.
up seq anno comments: Inner centromere protein
up seq anno comments: Interaction with AURKC
up seq anno comments: Interaction with CBX5
up seq anno comments: Loss of binding to CDCA8 and BIRC5; when associated with R-22.
up seq anno comments: Loss of binding to CDCA8 and BIRC5; when associated with R-34.
up seq anno comments: Loss of localization to the central spindle and midbody in anaphase or cytokinesis; when associated with R-35; R-36 and R-39.
up seq anno comments: Loss of localization to the central spindle and midbody in anaphase or cytokinesis; when associated with R-35; R-36 and R-40.
up seq anno comments: Loss of localization to the central spindle and midbody in anaphase or cytokinesis; when associated with R-35; R-39 and R-40.
up seq anno comments: Loss of localization to the central spindle and midbody in anaphase or cytokinesis; when associated with R-36; R-39 and R-40.
up seq anno comments: PXVXL/I motif
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by AURKB and AURKC
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by AURKB and AURKC
up seq anno comments: Polar residues
up seq anno comments: SAH
up seq anno feature ids: PRO_0000084201
up seq anno feature ids: VAR_047127
up seq anno feature ids: VAR_047128
up seq anno feature ids: VAR_047129
up seq anno feature ids: VAR_047130
up seq anno feature ids: VAR_047131
up seq anno feature ids: VSP_035651

9606:KBTBD7
gene id: 9606:KBTBD7
uniprot id: Q8WVZ9
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno comments: ATG8 interaction motif (AIM)
up seq anno comments: BTB
up seq anno comments: Basic and acidic residues
up seq anno comments: Decreased interaction with GABARAP and GABARAPL2.
up seq anno comments: Decreased interaction with GABARAP and GABARAPL2. Loss of function in TIAM1 ubiquitination and degradation. No effect on assembly of the CUL3(KBTBD6/7) E3 ubiquitin ligase complex.
up seq anno comments: Disordered
up seq anno comments: Kelch 1
up seq anno comments: Kelch 2
up seq anno comments: Kelch 3
up seq anno comments: Kelch 4
up seq anno comments: Kelch 5
up seq anno comments: Kelch repeat and BTB domain-containing protein 7
up seq anno comments: Loss of interaction with CUL3. Loss of function in TIAM1 degradation.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000119085

9606:ID2
gene id: 9606:ID2
uniprot id: Q02363
uniprot id: Q53T66
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Sequence Conflict
up seq anno labels: Strand
up seq anno comments: BHLH
up seq anno comments: DNA-binding protein inhibitor ID-2
up seq anno comments: Nuclear export signal
up seq anno comments: Phosphoserine
up seq anno comments: bHLH
up seq anno feature ids: PRO_0000127240

9606:KCNQ4
gene id: 9606:KCNQ4
uniprot id: B3KQH8
uniprot id: P56696
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: INTRAMEM
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: INTRAMEM
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: A-domain (Tetramerization)
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=Segment S1
up seq anno comments: Helical; Name=Segment S2
up seq anno comments: Helical; Name=Segment S3
up seq anno comments: Helical; Name=Segment S5
up seq anno comments: Helical; Name=Segment S6
up seq anno comments: Helical; Voltage-sensor; Name=Segment S4
up seq anno comments: In DFNA2A.
up seq anno comments: In DFNA2A; dominant negative effect; abolishes potassium current.
up seq anno comments: In DFNA2A; loss of potassium selectivity of the pore.
up seq anno comments: In isoform 2.
up seq anno comments: No effect on inhibition by potassium channel toxin SsTX.
up seq anno comments: Polar residues
up seq anno comments: Pore-forming; Name=Segment H5
up seq anno comments: Potassium channel voltage dependent KCNQ C-terminal
up seq anno comments: Potassium voltage-gated channel subfamily KQT member 4
up seq anno comments: Resistant to inhibition by potassium channel toxin SsTX. Normal voltage activation.
up seq anno comments: Selectivity filter
up seq anno feature ids: PRO_0000054037
up seq anno feature ids: VAR_001547
up seq anno feature ids: VAR_008726
up seq anno feature ids: VAR_008727
up seq anno feature ids: VAR_008728
up seq anno feature ids: VAR_010936
up seq anno feature ids: VAR_010937
up seq anno feature ids: VAR_058971
up seq anno feature ids: VAR_065779
up seq anno feature ids: VSP_001013

9606:PPIC
gene id: 9606:PPIC
uniprot id: P45877
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: PPIase cyclophilin-type
up seq anno comments: Peptidyl-prolyl cis-trans isomerase C
up seq anno feature ids: PRO_0000064147
up seq anno feature ids: VAR_024319
up seq anno feature ids: VAR_051770
up seq anno feature ids: VAR_060712

9606:ADTRP
gene id: 9606:ADTRP
uniprot id: Q96IZ2
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Androgen-dependent TFPI-regulating protein
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Important for catalytic activity
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of hydrolase activity.
up seq anno feature ids: PRO_0000190100
up seq anno feature ids: VAR_024365
up seq anno feature ids: VSP_041965
up seq anno feature ids: VSP_042868

9606:SDHD
gene id: 9606:SDHD
uniprot id: A0A0S2Z4H7
uniprot id: A0A0S2Z4J3
uniprot id: O14521
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transit Peptide
up seq anno labels: Transmembrane
up seq anno comments: Found in an individual with features of Cowden syndrome; unknown pathological significance; associated with increased manganese superoxide dismutase expression; associated with normal reactive oxygen species; associated with no change in AKT expression but a 1.2-fold increase of MAPK expression.
up seq anno comments: Helical
up seq anno comments: In MC2DN3; results in highly reduced protein expression; results in impaired cellular respiration.
up seq anno comments: In MC2DN3; results in impaired mitochondrial complex II assembly; results in impaired cellular respiration.
up seq anno comments: In PGL1 and pheochromocytoma.
up seq anno comments: In PGL1.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: May increase susceptibility for developing paraganglioma, breast and thyroid carcinoma; may be involved in somatic Merkel cell carcinoma; associated with increased manganese superoxide dismutase expression; associated with increased reactive oxygen species; associated with a 2.0-fold increase in AKT expression and a 1.7-fold increase in MAPK expression.
up seq anno comments: May increase susceptibility for developing pheochromocytoma, paraganglioma, intestinal carcinoid tumor and breast, renal and uterus carcinoma; associated with increased manganese superoxide dismutase expression; associated with increased reactive oxygen species; associated with 1.9-fold increase in both AKT and MAPK expression.
up seq anno comments: Mitochondrial intermembrane
up seq anno comments: Mitochondrial matrix
up seq anno comments: Mitochondrion
up seq anno comments: Succinate dehydrogenase [ubiquinone] cytochrome b small subunit
up seq anno comments: Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial
up seq anno comments: axial binding residue
up seq anno feature ids: PRO_0000006487
up seq anno feature ids: PRO_5006608294
up seq anno feature ids: PRO_5006608296
up seq anno feature ids: VAR_010038
up seq anno feature ids: VAR_010039
up seq anno feature ids: VAR_010040
up seq anno feature ids: VAR_017870
up seq anno feature ids: VAR_017871
up seq anno feature ids: VAR_017872
up seq anno feature ids: VAR_017873
up seq anno feature ids: VAR_018519
up seq anno feature ids: VAR_054384
up seq anno feature ids: VAR_054385
up seq anno feature ids: VAR_074105
up seq anno feature ids: VAR_074106
up seq anno feature ids: VSP_054744
up seq anno feature ids: VSP_054745
up seq anno feature ids: VSP_054746
up seq anno feature ids: VSP_054747

9606:PAPLN
gene id: 9606:PAPLN
uniprot id: B3KXI1
uniprot id: O95428
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: BPTI/Kunitz inhibitor
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Ig-like
up seq anno comments: Ig-like C2-type 1
up seq anno comments: Ig-like C2-type 2
up seq anno comments: Ig-like C2-type 3
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: PLAC
up seq anno comments: Papilin
up seq anno comments: Polar residues
up seq anno comments: TSP type-1 1
up seq anno comments: TSP type-1 2
up seq anno comments: TSP type-1 3
up seq anno comments: TSP type-1 4
up seq anno comments: TSP type-1 5
up seq anno feature ids: PRO_0000324550
up seq anno feature ids: VAR_039815
up seq anno feature ids: VAR_039816
up seq anno feature ids: VAR_039817
up seq anno feature ids: VAR_039818
up seq anno feature ids: VAR_039819
up seq anno feature ids: VAR_039820
up seq anno feature ids: VAR_039821
up seq anno feature ids: VAR_039822
up seq anno feature ids: VAR_039823
up seq anno feature ids: VAR_039824
up seq anno feature ids: VAR_039825
up seq anno feature ids: VSP_032269
up seq anno feature ids: VSP_032270
up seq anno feature ids: VSP_032271
up seq anno feature ids: VSP_032272
up seq anno feature ids: VSP_032273
up seq anno feature ids: VSP_032274
up seq anno feature ids: VSP_037595
up seq anno feature ids: VSP_037596

9606:ZNF134
gene id: 9606:ZNF134
uniprot id: P52741
uniprot id: Q5U5N5
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 2; degenerate
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: Zinc finger protein 134
up seq anno feature ids: PRO_0000047418
up seq anno feature ids: VAR_052771
up seq anno feature ids: VAR_052772
up seq anno feature ids: VAR_052773
up seq anno feature ids: VSP_035666

9606:LEO1
gene id: 9606:LEO1
uniprot id: Q8WVC0
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: RNA polymerase-associated protein LEO1
up seq anno comments: Removed
up seq anno feature ids: PRO_0000247819
up seq anno feature ids: VSP_020051

9606:ANKHD1-EIF4EBP3
gene id: 9606:ANKHD1-EIF4EBP3
uniprot id: Q8IWZ3
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: ANK 1
up seq anno comments: ANK 10
up seq anno comments: ANK 11
up seq anno comments: ANK 12
up seq anno comments: ANK 13
up seq anno comments: ANK 14
up seq anno comments: ANK 15
up seq anno comments: ANK 16
up seq anno comments: ANK 17
up seq anno comments: ANK 18
up seq anno comments: ANK 19
up seq anno comments: ANK 2
up seq anno comments: ANK 20
up seq anno comments: ANK 21
up seq anno comments: ANK 22
up seq anno comments: ANK 23
up seq anno comments: ANK 24
up seq anno comments: ANK 25
up seq anno comments: ANK 3
up seq anno comments: ANK 4
up seq anno comments: ANK 5
up seq anno comments: ANK 6
up seq anno comments: ANK 7
up seq anno comments: ANK 8
up seq anno comments: ANK 9
up seq anno comments: Acidic residues
up seq anno comments: Ankyrin repeat and KH domain-containing protein 1
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: KH
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000306326
up seq anno feature ids: VAR_035291
up seq anno feature ids: VAR_035292
up seq anno feature ids: VAR_035293
up seq anno feature ids: VAR_048281
up seq anno feature ids: VSP_028452
up seq anno feature ids: VSP_028453
up seq anno feature ids: VSP_028454
up seq anno feature ids: VSP_028455
up seq anno feature ids: VSP_028456
up seq anno feature ids: VSP_028457
up seq anno feature ids: VSP_028458
up seq anno feature ids: VSP_044231

9606:ATP5ME
gene id: 9606:ATP5ME
uniprot id: P56385
up seq anno parent labels: Chain
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno comments: ATP synthase subunit e, mitochondrial
up seq anno comments: ATP synthase subunit e, mitochondrial, N-terminally processed
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Removed; alternate
up seq anno feature ids: PRO_0000071684
up seq anno feature ids: PRO_0000434346

9606:SMARCA2
gene id: 9606:SMARCA2
uniprot id: B1ALF6
uniprot id: B4DNT1
uniprot id: B4DSC8
uniprot id: F6T8Q0
uniprot id: F6VDE0
uniprot id: P51531
uniprot id: Q56A76
uniprot id: Q8N9Q1
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Acidic residues
up seq anno comments: Associated with schizophrenia in some populations; results in reduced localization to the nucleus; decreased interaction with chromatin.
up seq anno comments: Basic and acidic residues
up seq anno comments: Bromo
up seq anno comments: DEGH box
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: HSA
up seq anno comments: Helicase ATP-binding
up seq anno comments: Helicase C-terminal
up seq anno comments: In BIS.
up seq anno comments: In NCBRS.
up seq anno comments: In isoform Short.
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Probable disease-associated variant found in a patient with non-specific intellectual disability syndrome.
up seq anno comments: Probable global transcription activator SNF2L2
up seq anno comments: QLQ
up seq anno feature ids: PRO_0000074352
up seq anno feature ids: PRO_5002761800
up seq anno feature ids: PRO_5004311201
up seq anno feature ids: PRO_5014567683
up seq anno feature ids: VAR_049501
up seq anno feature ids: VAR_049502
up seq anno feature ids: VAR_068180
up seq anno feature ids: VAR_068181
up seq anno feature ids: VAR_068182
up seq anno feature ids: VAR_068183
up seq anno feature ids: VAR_068184
up seq anno feature ids: VAR_068185
up seq anno feature ids: VAR_068186

9606:ACKR2
gene id: 9606:ACKR2
uniprot id: O00590
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Atypical chemokine receptor 2
up seq anno comments: C-terminal cytoplasmic tail
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000069219
up seq anno feature ids: VAR_024252
up seq anno feature ids: VAR_049379
up seq anno feature ids: VAR_049380
up seq anno feature ids: VAR_049381

9606:GPR137C
gene id: 9606:GPR137C
uniprot id: B3KW22
uniprot id: Q6AWC7
uniprot id: Q8N3F9
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: Integral membrane protein GPR137C
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000304803
up seq anno feature ids: PRO_5002790175
up seq anno feature ids: VAR_053880

9606:CST4
gene id: 9606:CST4
uniprot id: P01036
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Mass
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Mass
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno comments: Cystatin-S
up seq anno comments: Diphosphorylated at Ser-21 and Ser-23, also called form S2.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: Monophosphorylated at Ser-23, also called form S1.
up seq anno comments: Phosphoserine
up seq anno comments: Reactive site
up seq anno comments: Secondary area of contact
up seq anno feature ids: PRO_0000006650
up seq anno feature ids: VAR_036549
up seq anno feature ids: VAR_048852

9606:NRSN2
gene id: 9606:NRSN2
uniprot id: Q9GZP1
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: Neurensin-2
up seq anno feature ids: PRO_0000221675
up seq anno feature ids: VAR_053738
up seq anno feature ids: VAR_053739
up seq anno feature ids: VAR_062158

9606:PPEF2
gene id: 9606:PPEF2
uniprot id: O14830
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Catalytic
up seq anno comments: Disordered
up seq anno comments: EF-hand 1
up seq anno comments: EF-hand 2
up seq anno comments: EF-hand 3
up seq anno comments: IQ
up seq anno comments: In isoform PPEF-2(S).
up seq anno comments: Polar residues
up seq anno comments: Proton donor
up seq anno comments: Serine/threonine-protein phosphatase with EF-hands 2
up seq anno feature ids: PRO_0000058901
up seq anno feature ids: VAR_010230
up seq anno feature ids: VAR_055121
up seq anno feature ids: VAR_055122
up seq anno feature ids: VAR_055123
up seq anno feature ids: VAR_055124
up seq anno feature ids: VAR_061759
up seq anno feature ids: VSP_005103
up seq anno feature ids: VSP_005104

9606:MRPS31
gene id: 9606:MRPS31
uniprot id: Q92665
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Mitochondrion
up seq anno comments: Small ribosomal subunit protein mS31
up seq anno feature ids: PRO_0000030594
up seq anno feature ids: VAR_052049
up seq anno feature ids: VAR_061812

9606:TMED2
gene id: 9606:TMED2
uniprot id: Q15363
uniprot id: Q6FHT8
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Domain Extent
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: COPI vesicle coat-binding
up seq anno comments: COPII vesicle coat-binding
up seq anno comments: Cytoplasmic
up seq anno comments: Disrupts association with coatomer; when associated with A-194-195-A.
up seq anno comments: Disrupts association with coatomer; when associated with S-198-199-S.
up seq anno comments: GOLD
up seq anno comments: Helical
up seq anno comments: Interaction with F2RL1
up seq anno comments: Lumenal
up seq anno comments: No inhibition of coatomer-dependent GTP hydrolysis.
up seq anno comments: Reduced surface and total expression of CASR.
up seq anno comments: Required for TMED10 and TMED2 cis-Golgi network localization
up seq anno comments: Transmembrane emp24 domain-containing protein 2
up seq anno feature ids: PRO_0000010381
up seq anno feature ids: PRO_5014310442

9606:TSSK6
gene id: 9606:TSSK6
uniprot id: Q9BXA6
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Site
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Mutagenesis Site
up seq anno comments: Loss of kinase activity. Loss of binding to TSACC.
up seq anno comments: Loss of kinase activity. No effect of binding to TSACC.
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Testis-specific serine/threonine-protein kinase 6
up seq anno feature ids: PRO_0000227746

9606:ENDOD1
gene id: 9606:ENDOD1
uniprot id: O94919
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Disordered
up seq anno comments: Endonuclease domain-containing 1 protein
up seq anno comments: N6-acetyllysine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000019924
up seq anno feature ids: VAR_022044
up seq anno feature ids: VAR_022045

9606:TSPAN17
gene id: 9606:TSPAN17
uniprot id: J3KNG2
uniprot id: Q96FV3
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Tetraspanin-17
up seq anno feature ids: PRO_0000219265
up seq anno feature ids: VAR_057278
up seq anno feature ids: VSP_011388
up seq anno feature ids: VSP_011389
up seq anno feature ids: VSP_011390
up seq anno feature ids: VSP_011391
up seq anno feature ids: VSP_025608

9606:ANKRD33
gene id: 9606:ANKRD33
uniprot id: Q0VAA8
uniprot id: Q5K617
uniprot id: Q7Z3H0
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: ANK 1
up seq anno comments: ANK 2
up seq anno comments: ANK 3
up seq anno comments: ANK 4
up seq anno comments: Disordered
up seq anno comments: In isoform 1.
up seq anno comments: Photoreceptor ankyrin repeat protein
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000243908
up seq anno feature ids: VAR_059121
up seq anno feature ids: VAR_059122
up seq anno feature ids: VAR_059123
up seq anno feature ids: VAR_082795
up seq anno feature ids: VSP_059265
up seq anno feature ids: VSP_059266
up seq anno feature ids: VSP_059267

9606:CCT6A
gene id: 9606:CCT6A
uniprot id: P40227
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno comments: T-complex protein 1 subunit zeta
up seq anno feature ids: PRO_0000128355
up seq anno feature ids: VAR_052268
up seq anno feature ids: VSP_044918

9606:RASSF6
gene id: 9606:RASSF6
uniprot id: Q6ZTQ3
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Phosphoserine
up seq anno comments: Ras association domain-containing protein 6
up seq anno comments: Ras-associating
up seq anno comments: SARAH
up seq anno feature ids: PRO_0000240404
up seq anno feature ids: VAR_026725
up seq anno feature ids: VAR_034440
up seq anno feature ids: VSP_019370
up seq anno feature ids: VSP_019371
up seq anno feature ids: VSP_019372

9606:SSX2IP
gene id: 9606:SSX2IP
uniprot id: B7ZB07
uniprot id: Q9Y2D8
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Afadin- and alpha-actinin-binding protein
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000064455
up seq anno feature ids: VAR_056726
up seq anno feature ids: VSP_011724
up seq anno feature ids: VSP_011725
up seq anno feature ids: VSP_046368

9606:TYW1B
gene id: 9606:TYW1B
uniprot id: Q6NUM6
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Flavodoxin-like
up seq anno comments: In isoform 2.
up seq anno comments: Radical SAM core
up seq anno comments: S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase TYW1B
up seq anno feature ids: PRO_0000281827
up seq anno feature ids: VSP_056092

9606:YWHAH
gene id: 9606:YWHAH
uniprot id: Q04917
uniprot id: Q9H4N8
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Site
up seq anno labels: Turn
up seq anno comments: 14-3-3
up seq anno comments: 14-3-3 protein eta
up seq anno comments: Interaction with phosphoserine on interacting protein
up seq anno comments: N-acetylglycine
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000058623

9606:ZNF830
gene id: 9606:ZNF830
uniprot id: Q96NB3
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: C2H2-type
up seq anno comments: Disordered
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno comments: Zinc finger protein 830
up seq anno feature ids: PRO_0000076193
up seq anno feature ids: VAR_024059
up seq anno feature ids: VAR_024060
up seq anno feature ids: VAR_030940
up seq anno feature ids: VAR_030941
up seq anno feature ids: VAR_030942

9606:LRRC63
gene id: 9606:LRRC63
uniprot id: Q05C16
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno comments: LRR 1
up seq anno comments: LRR 2
up seq anno comments: LRR 3
up seq anno comments: LRR 4
up seq anno comments: LRR 5
up seq anno comments: LRR 6
up seq anno comments: LRR 7
up seq anno comments: Leucine-rich repeat-containing protein 63
up seq anno feature ids: PRO_0000320628
up seq anno feature ids: VAR_039236
up seq anno feature ids: VAR_039237
up seq anno feature ids: VAR_039238
up seq anno feature ids: VAR_039239

9606:COL9A3
gene id: 9606:COL9A3
uniprot id: Q14050
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Associated with an increased risk for intervertebral disk disease.
up seq anno comments: Cell attachment site
up seq anno comments: Collagen alpha-3(IX) chain
up seq anno comments: Disordered
up seq anno comments: In EDM3.
up seq anno comments: In STL6.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Nonhelical region 1 (NC1)
up seq anno comments: Nonhelical region 2 (NC2)
up seq anno comments: Nonhelical region 3 (NC3)
up seq anno comments: Pro residues
up seq anno comments: Triple-helical region 1 (COL1)
up seq anno comments: Triple-helical region 2 (COL2)
up seq anno comments: Triple-helical region 3 (COL3)
up seq anno feature ids: PRO_0000005848
up seq anno feature ids: VAR_012660
up seq anno feature ids: VAR_012661
up seq anno feature ids: VAR_026467
up seq anno feature ids: VAR_026468
up seq anno feature ids: VAR_026469
up seq anno feature ids: VAR_026470
up seq anno feature ids: VAR_026471
up seq anno feature ids: VAR_048808
up seq anno feature ids: VAR_072736
up seq anno feature ids: VAR_087540
up seq anno feature ids: VAR_087541
up seq anno feature ids: VAR_087542

9606:NHERF1
gene id: 9606:NHERF1
uniprot id: O14745
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In NPHLOP2; impairs the interaction with SLC34A1; causes a reduction of SLC34A1 amount on cell membrane and affects SLC34A1-dependent phosphate uptake.
up seq anno comments: In NPHLOP2; the mutant expressed in cultured renal cells increases the generation of cAMP by PTH and inhibits phosphate transport.
up seq anno comments: In NPHLOP2; the mutant expressed in cultured renal cells increases the generation of cyclic AMP (cAMP) by parathyroid hormone (PTH) and inhibits phosphate transport.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of MSX binding.
up seq anno comments: Loss of interaction with ACE2.
up seq anno comments: N-acetylserine
up seq anno comments: Na(+)/H(+) exchange regulatory cofactor NHE-RF1
up seq anno comments: PDZ 1
up seq anno comments: PDZ 2
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Reduces MSX binding.
up seq anno comments: Removed
up seq anno feature ids: PRO_0000096799
up seq anno feature ids: VAR_034899
up seq anno feature ids: VAR_048021
up seq anno feature ids: VAR_048022
up seq anno feature ids: VAR_067661
up seq anno feature ids: VSP_055497

9606:ACOT11
gene id: 9606:ACOT11
uniprot id: Q8WXI4
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: Acyl-coenzyme A thioesterase 11
up seq anno comments: HotDog ACOT-type 1
up seq anno comments: HotDog ACOT-type 2
up seq anno comments: In isoform 2.
up seq anno comments: Mitochondrion
up seq anno comments: Phosphoserine
up seq anno comments: START
up seq anno feature ids: PRO_0000053813
up seq anno feature ids: VAR_022119
up seq anno feature ids: VAR_022120
up seq anno feature ids: VAR_022121
up seq anno feature ids: VAR_048190
up seq anno feature ids: VAR_048191
up seq anno feature ids: VSP_000160

9606:PTAFR
gene id: 9606:PTAFR
uniprot id: A8K7N8
uniprot id: P25105
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Platelet-activating factor receptor
up seq anno feature ids: PRO_0000070092
up seq anno feature ids: VAR_011851
up seq anno feature ids: VAR_011852

9606:KAT6B
gene id: 9606:KAT6B
uniprot id: B2RWN8
uniprot id: Q8WYB5
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Breakpoint for translocation to form KAT6B-CREBBP
up seq anno comments: C2HC MYST-type
up seq anno comments: Catalytic
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: H15
up seq anno comments: Histone acetyltransferase KAT6B
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Interaction with BRPF1
up seq anno comments: Interaction with RUNX1 and RUNX2
up seq anno comments: MYST-type HAT
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; by autocatalysis
up seq anno comments: Negatively regulates HAT activity
up seq anno comments: PHD-type
up seq anno comments: PHD-type 1
up seq anno comments: PHD-type 2
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Proton donor/acceptor
up seq anno comments: SAMD1-like winged helix (WH)
up seq anno feature ids: PRO_0000051575
up seq anno feature ids: VAR_036361
up seq anno feature ids: VAR_050217
up seq anno feature ids: VAR_061367
up seq anno feature ids: VAR_067315
up seq anno feature ids: VSP_014586
up seq anno feature ids: VSP_014587

9606:SERTM1
gene id: 9606:SERTM1
uniprot id: A2A2V5
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: Serine-rich and transmembrane domain-containing protein 1
up seq anno feature ids: PRO_0000331521

9606:SLC25A13
gene id: 9606:SLC25A13
uniprot id: Q9UJS0
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: C-terminal domain
up seq anno comments: Carrier domain
up seq anno comments: EF-hand 1
up seq anno comments: EF-hand 2
up seq anno comments: EF-hand 3
up seq anno comments: EF-hand 4
up seq anno comments: Electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: In NICCD.
up seq anno comments: In isoform 2.
up seq anno comments: Linker loop domain
up seq anno comments: Mitochondrial intermembrane
up seq anno comments: Mitochondrial matrix
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-methyllysine
up seq anno comments: N6-succinyllysine
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Regulatory N-terminal domain
up seq anno comments: Removed
up seq anno comments: Solcar 1
up seq anno comments: Solcar 2
up seq anno comments: Solcar 3
up seq anno feature ids: PRO_0000090600
up seq anno feature ids: VAR_016601
up seq anno feature ids: VAR_050126
up seq anno feature ids: VAR_050127
up seq anno feature ids: VSP_043747

9606:MAP1LC3B
gene id: 9606:MAP1LC3B
uniprot id: Q658J6
uniprot id: Q9GZQ8
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Propeptide
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Lipid Binding
up seq anno labels: Mutagenesis Site
up seq anno labels: Propeptide
up seq anno labels: Sequence Conflict
up seq anno labels: Site
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolished delipidation by ATG4 family proteins.
up seq anno comments: Abolishes interaction with TECPR2.
up seq anno comments: Cleavage; by ATG4B
up seq anno comments: Decreased interaction with Legionella effector RavZ.
up seq anno comments: Decreases C18 ceramide binding.
up seq anno comments: Impaired localization to autophagosomes.
up seq anno comments: Impairs cleavage by ATG4B.
up seq anno comments: Increased interaction with WDFY3/ALFY, no effect on SQSTM1-binding; when associated with K-26 and D-57.
up seq anno comments: Increased interaction with WDFY3/ALFY, no effect on SQSTM1-binding; when associated with K-26 and Y-27.
up seq anno comments: Increased interaction with WDFY3/ALFY, no effect on SQSTM1-binding; when associated with Y-27 and D-57.
up seq anno comments: Microtubule-associated proteins 1A/1B light chain 3B
up seq anno comments: No effect on interaction with TECPR2.
up seq anno comments: No effect on processing of precursor.
up seq anno comments: No processing of precursor. No lipidation. Decreases C18 ceramide binding.
up seq anno comments: Phosphatidylethanolamine amidated glycine; alternate
up seq anno comments: Phosphatidylserine amidated glycine; alternate
up seq anno comments: Removed in mature form
up seq anno feature ids: PRO_0000017198
up seq anno feature ids: PRO_0000017199

9606:PRR7
gene id: 9606:PRR7
uniprot id: Q8TB68
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Basic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical; Signal-anchor for type III membrane protein
up seq anno comments: In isoform 2.
up seq anno comments: PDZ-binding
up seq anno comments: Phosphoserine
up seq anno comments: Proline-rich protein 7
up seq anno comments: Reduced induction of apoptosis; when associated with F-139; F-153; F-166; F-177 and F-201.
up seq anno comments: Reduced induction of apoptosis; when associated with F-139; F-153; F-166; F-177 and F-210.
up seq anno comments: Reduced induction of apoptosis; when associated with F-139; F-153; F-166; F-201 and F-210.
up seq anno comments: Reduced induction of apoptosis; when associated with F-139; F-153; F-177; F-201 and F-210.
up seq anno comments: Reduced induction of apoptosis; when associated with F-139; F-166; F-177; F-201 and F-210.
up seq anno comments: Reduced induction of apoptosis; when associated with F-153; F-166; F-177; F-201 and F-210.
up seq anno comments: Required for apoptosis induction
up seq anno comments: Required for interaction with NMDA receptors
up seq anno comments: Required for internalization
up seq anno comments: Required for membrane localization
up seq anno feature ids: PRO_0000328649
up seq anno feature ids: VAR_042437
up seq anno feature ids: VSP_032750

9606:MS4A14
gene id: 9606:MS4A14
uniprot id: A0A0A0MS57
uniprot id: Q96JA4
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Membrane-spanning 4-domains subfamily A member 14
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000320967
up seq anno feature ids: VAR_039330
up seq anno feature ids: VAR_039331
up seq anno feature ids: VSP_031779
up seq anno feature ids: VSP_031780
up seq anno feature ids: VSP_031781
up seq anno feature ids: VSP_031782
up seq anno feature ids: VSP_056734

9606:ANKRD18A
gene id: 9606:ANKRD18A
uniprot id: A0A8V8TQR3
uniprot id: Q8IVF6
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: ANK
up seq anno comments: ANK 1
up seq anno comments: ANK 2
up seq anno comments: ANK 3
up seq anno comments: ANK 4
up seq anno comments: ANK 5
up seq anno comments: Ankyrin repeat domain-containing protein 18A
up seq anno comments: Basic and acidic residues
up seq anno comments: CCDC144C-like coiled-coil
up seq anno comments: DUF3496
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000066912
up seq anno feature ids: VAR_055507
up seq anno feature ids: VAR_055508
up seq anno feature ids: VAR_055509
up seq anno feature ids: VAR_055510
up seq anno feature ids: VAR_055511
up seq anno feature ids: VAR_055512
up seq anno feature ids: VAR_059118
up seq anno feature ids: VSP_056912
up seq anno feature ids: VSP_056913

9606:PRY
gene id: 9606:PRY
uniprot id: O14603
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: PTPN13-like protein, Y-linked
up seq anno feature ids: PRO_0000097056
up seq anno feature ids: VSP_004068
up seq anno feature ids: VSP_004069

9606:ELF2
gene id: 9606:ELF2
uniprot id: B7Z720
uniprot id: Q15723
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: ETS
up seq anno comments: ETS-related transcription factor Elf-2
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 1 and isoform 2.
up seq anno comments: In isoform 2, isoform 3 and isoform 4.
up seq anno comments: In isoform 4.
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000204087
up seq anno feature ids: VSP_014154
up seq anno feature ids: VSP_014155
up seq anno feature ids: VSP_014156

9606:IL1RN
gene id: 9606:IL1RN
uniprot id: P18510
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Interleukin-1 receptor antagonist protein
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000015328
up seq anno feature ids: VAR_049573
up seq anno feature ids: VSP_002649
up seq anno feature ids: VSP_002650
up seq anno feature ids: VSP_002651

9606:SSTR5
gene id: 9606:SSTR5
uniprot id: P35346
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine; by PKA
up seq anno comments: S-palmitoyl cysteine; by ZDHHC5
up seq anno comments: Somatostatin receptor type 5
up seq anno feature ids: PRO_0000070130
up seq anno feature ids: VAR_020073
up seq anno feature ids: VAR_029222
up seq anno feature ids: VAR_029223
up seq anno feature ids: VAR_029224
up seq anno feature ids: VAR_029225
up seq anno feature ids: VAR_029226
up seq anno feature ids: VAR_033484
up seq anno feature ids: VAR_033485
up seq anno feature ids: VAR_033486
up seq anno feature ids: VAR_049442
up seq anno feature ids: VAR_049443
up seq anno feature ids: VAR_049444

9606:PSD4
gene id: 9606:PSD4
uniprot id: Q8NDX1
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: PH
up seq anno comments: PH and SEC7 domain-containing protein 4
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: SEC7
up seq anno feature ids: PRO_0000251731
up seq anno feature ids: VAR_027712
up seq anno feature ids: VAR_051921
up seq anno feature ids: VAR_051922
up seq anno feature ids: VAR_051923
up seq anno feature ids: VAR_051924
up seq anno feature ids: VSP_020772
up seq anno feature ids: VSP_020773

9606:CD180
gene id: 9606:CD180
uniprot id: Q99467
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: CD180 antigen
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: LRR 1
up seq anno comments: LRR 10
up seq anno comments: LRR 11
up seq anno comments: LRR 12
up seq anno comments: LRR 13
up seq anno comments: LRR 14
up seq anno comments: LRR 15
up seq anno comments: LRR 16
up seq anno comments: LRR 17
up seq anno comments: LRR 18
up seq anno comments: LRR 19
up seq anno comments: LRR 2
up seq anno comments: LRR 3
up seq anno comments: LRR 4
up seq anno comments: LRR 5
up seq anno comments: LRR 6
up seq anno comments: LRR 7
up seq anno comments: LRR 8
up seq anno comments: LRR 9
up seq anno comments: LRRCT
up seq anno comments: LRRNT
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000034741
up seq anno feature ids: VAR_021978
up seq anno feature ids: VAR_021979
up seq anno feature ids: VAR_057298
up seq anno feature ids: VAR_057299
up seq anno feature ids: VAR_057300
up seq anno feature ids: VAR_057301
up seq anno feature ids: VAR_061859

9606:TFAM
gene id: 9606:TFAM
uniprot id: E5KSU5
uniprot id: Q00059
up seq anno parent labels: Chain
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transit Peptide
up seq anno labels: Chain
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno comments: HMG box
up seq anno comments: HMG box 1
up seq anno comments: HMG box 2
up seq anno comments: In MTDPS15.
up seq anno comments: In isoform 2.
up seq anno comments: Intercalates between bases and promotes DNA bending
up seq anno comments: Mitochondrion
up seq anno comments: Moderate reduction in DNA bending.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PKA
up seq anno comments: Phosphothreonine
up seq anno comments: Transcription factor A, mitochondrial
up seq anno feature ids: PRO_0000013470
up seq anno feature ids: PRO_5014303264
up seq anno feature ids: VAR_016124
up seq anno feature ids: VAR_077842
up seq anno feature ids: VSP_047019

9606:RIPOR3
gene id: 9606:RIPOR3
uniprot id: A0A499FJE4
uniprot id: B7Z3F0
uniprot id: B7Z5S0
uniprot id: Q96MK2
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: FAM65 N-terminal
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: RIPOR family member 3
up seq anno feature ids: PRO_0000079484
up seq anno feature ids: VAR_053914
up seq anno feature ids: VAR_062194
up seq anno feature ids: VSP_026496

9606:BIRC5
gene id: 9606:BIRC5
uniprot id: A0A0B4J1S3
uniprot id: H3BLT4
uniprot id: O15392
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Almost abolishes RAN-binding. Does not disrupt binding to AURKB or CDCA8. Disrupts mitotic spindle assembly. Does not disrupt nuclear export.
up seq anno comments: BIR
up seq anno comments: Baculoviral IAP repeat-containing protein 5
up seq anno comments: Disrupts interaction with histone H3pT3, no effect on interaction with INCENP.
up seq anno comments: Higher affinity for LAMTOR5 binding.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: In isoform 7.
up seq anno comments: Increases ubiquitination and blocks dissociation from centromeres; when associated with R-23; R-62 and R-78.
up seq anno comments: Increases ubiquitination and blocks dissociation from centromeres; when associated with R-23; R-62 and R-79.
up seq anno comments: Increases ubiquitination and blocks dissociation from centromeres; when associated with R-23; R-78 and R-79.
up seq anno comments: Increases ubiquitination and blocks dissociation from centromeres; when associated with R-62; R-78 and R-79.
up seq anno comments: Interaction with FBXL7
up seq anno comments: Localizes normally during mitosis but cannot support cell proliferation. Increased affinity for CDCA8/borealin.
up seq anno comments: Loss of FBXL7 binding.
up seq anno comments: Loss of FBXL7 mediated polyubiquitination.
up seq anno comments: Loss of LAMTOR5 binding.
up seq anno comments: Loss of acetylation. Localization primarily within the cytoplasm.
up seq anno comments: Loss of acetylation; localization primarily within the cytoplasm; increased likelihood of existing as monomer; stronger binding to XPO1/CRM1.
up seq anno comments: Loss of cytoprotection.
up seq anno comments: Mimics acetylation. Localization primarily within the nucleus.
up seq anno comments: Mimics phosphorylation. Disrupts subcellular localization during mitosis and prevents interaction with INCENP.
up seq anno comments: N6-acetyllysine
up seq anno comments: No change. Loss of interaction with AURKB; when associated with A-70.
up seq anno comments: No change. Loss of interaction with AURKB; when associated with A-71.
up seq anno comments: Phosphoserine; by AURKC
up seq anno comments: Phosphothreonine; by AURKB
up seq anno comments: Phosphothreonine; by CDK1 and CDK15
up seq anno comments: Phosphothreonine; by CK2; in vitro
up seq anno comments: Prevents phosphorylation by AURKB. Still able to localize correctly but prevents interaction with INCENP.
up seq anno feature ids: PRO_0000122356
up seq anno feature ids: VAR_021071
up seq anno feature ids: VSP_002454
up seq anno feature ids: VSP_020338
up seq anno feature ids: VSP_020339
up seq anno feature ids: VSP_020340
up seq anno feature ids: VSP_020341
up seq anno feature ids: VSP_020342

9606:LHX2
gene id: 9606:LHX2
uniprot id: B3KNJ5
uniprot id: P50458
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno comments: Disordered
up seq anno comments: Homeobox
up seq anno comments: LIM zinc-binding
up seq anno comments: LIM zinc-binding 1
up seq anno comments: LIM zinc-binding 2
up seq anno comments: LIM/homeobox protein Lhx2
up seq anno comments: Nuclear localization signal
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000075778

9606:FOXH1
gene id: 9606:FOXH1
uniprot id: O75593
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Helix
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno comments: Disordered
up seq anno comments: Fast/FoxH1 motif 1 (FM1)
up seq anno comments: Fast/FoxH1 motif 2 (FM2)
up seq anno comments: Fork-head
up seq anno comments: Forkhead box protein H1
up seq anno comments: Loss of activity.
up seq anno comments: Pro residues
up seq anno comments: SMAD interaction motif (SIM)
up seq anno comments: SMAD-interaction domain (SID)
up seq anno feature ids: PRO_0000091842
up seq anno feature ids: VAR_011381
up seq anno feature ids: VAR_011382

9606:GJD3
gene id: 9606:GJD3
uniprot id: A0A654IC68
uniprot id: Q8N144
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Connexin N-terminal
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Gap junction delta-3 protein
up seq anno comments: Gap junction protein cysteine-rich
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000312990
up seq anno feature ids: VSP_029984

9606:PARK7
gene id: 9606:PARK7
uniprot id: Q99497
uniprot id: V9HWC2
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Propeptide
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes detoxification activity on methylglyocal-adducted CoA.
up seq anno comments: Abolishes enzymatic activity. Abolishes oxidation, association with mitochondria and protease activity. No effect on chaperone activity. Reduces binding to OTUD7B.
up seq anno comments: Abolishes enzymatic activity. Abolishes oxidation, association with mitochondria and protease activity. No effect on chaperone activity. Reduces binding to OTUD7B. Removes the glycations and restores histone 3. Reduced localization in lipid rafts; when associated with A-46.
up seq anno comments: Abolishes oxidation and association with mitochondria. No effect on chaperone activity.
up seq anno comments: Cleavage; by CASP6
up seq anno comments: Cysteine sulfinic acid (-SO2H); alternate
up seq anno comments: DJ-1/PfpI
up seq anno comments: Disrupts dimer formation and strongly reduces ability to eliminate hydrogen peroxide.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
up seq anno comments: In PARK7.
up seq anno comments: In PARK7; does not affect protein stability and degradation; does not interfere with homodimerization; decreased detoxification activity on methylglyocal-adducted CoA.
up seq anno comments: In PARK7; loss of protection against metal cytotoxicity; decreased detoxification activity on methylglyocal-adducted CoA.
up seq anno comments: In PARK7; no apparent effect on protein stability; impaired mitochondrial morphology; no effect on detoxification activity on methylglyocal-adducted CoA.
up seq anno comments: In PARK7; strongly decreases enzymatic activity; reduces protein stability and leads to increased degradation; ubiquitinated by PRKN leading to its recognition by HDAC6 and targeting to aggresome where is degraded; interferes with homodimerization; abolishes interaction with PIAS2; reduced localization in lipid rafts; almost abolished detoxification activity on methylglyocal-adducted CoA.
up seq anno comments: In PARK7; unknown pathological significance.
up seq anno comments: Loss of protein and nucleic acid deglycase activity. No effect on mitochondrial translocation. Reduced protease activity. No effect on protection against metal cytotoxicity. No effect on methylglyoxal-adducted glutathione or CoA.
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-succinyllysine
up seq anno comments: No effect on detoxification activity on methylglyocal-adducted CoA.
up seq anno comments: No effect on mitochondrial translocation neither on deglycase activity.
up seq anno comments: Nucleophile
up seq anno comments: Parkinson disease protein 7
up seq anno comments: Partially compensates for loss of stability; when associated with P-166.
up seq anno comments: Phosphotyrosine
up seq anno comments: Probable disease-associated variant found in early-onset Parkinson disease with digenic inheritance; no effect on detoxification activity on methylglyocal-adducted CoA; the patient also carries PINK1 mutation L-399.
up seq anno comments: Reduces protein stability. No effect on oxidation.
up seq anno comments: Reduces protein stability. No effect on oxidation. Reduced localization in lipid rafts; when associated with A-106.
up seq anno comments: Removed
up seq anno comments: Removed in mature form
up seq anno comments: S-palmitoyl cysteine
up seq anno comments: S-palmitoyl cysteine; alternate
up seq anno comments: Strongly decreases enzymatic activity.
up seq anno comments: Strongly decreases enzymatic activity. Almost abolishes detoxification activity on methylglyocal-adducted CoA.
up seq anno comments: Strongly reduces chaperone activity and ability to eliminate hydrogen peroxide.
up seq anno comments: Unknown pathological significance; no effect on detoxification activity on methylglyocal-adducted CoA.
up seq anno feature ids: PRO_0000157849
up seq anno feature ids: PRO_0000405558
up seq anno feature ids: VAR_020492
up seq anno feature ids: VAR_020493
up seq anno feature ids: VAR_020494

9606:RNASET2
gene id: 9606:RNASET2
uniprot id: O00584
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes the effect on degradation of mitochondrion-associated cytosolic rRNAs.
up seq anno comments: In LCWM; the loss of a disulfide bond may affect protein folding and stability; the protein is retained in the endoplasmic reticulum and the mitochondria while lysosomal localization is disrupted.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Ribonuclease T2
up seq anno feature ids: PRO_0000030987
up seq anno feature ids: VAR_013004
up seq anno feature ids: VAR_063596
up seq anno feature ids: VSP_008405
up seq anno feature ids: VSP_008406

9606:OR11H2
gene id: 9606:OR11H2
uniprot id: Q8NH07
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 11H2
up seq anno feature ids: PRO_0000332963

9606:NID2
gene id: 9606:NID2
uniprot id: Q14112
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: EGF-like 1
up seq anno comments: EGF-like 2
up seq anno comments: EGF-like 3; calcium-binding
up seq anno comments: EGF-like 4
up seq anno comments: EGF-like 5; calcium-binding
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: LDL-receptor class B 1
up seq anno comments: LDL-receptor class B 2
up seq anno comments: LDL-receptor class B 3
up seq anno comments: LDL-receptor class B 4
up seq anno comments: LDL-receptor class B 5
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: NIDO
up seq anno comments: Nidogen G2 beta-barrel
up seq anno comments: Nidogen-2
up seq anno comments: O-linked (Xyl...) (chondroitin sulfate) serine
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Pro residues
up seq anno comments: Thyroglobulin type-1 1
up seq anno comments: Thyroglobulin type-1 2
up seq anno feature ids: PRO_0000007671
up seq anno feature ids: VAR_035836
up seq anno feature ids: VAR_055767
up seq anno feature ids: VAR_055768
up seq anno feature ids: VAR_055769
up seq anno feature ids: VAR_055770
up seq anno feature ids: VAR_055771
up seq anno feature ids: VAR_055772
up seq anno feature ids: VAR_055773
up seq anno feature ids: VAR_062850
up seq anno feature ids: VAR_062851
up seq anno feature ids: VAR_062852
up seq anno feature ids: VAR_062853
up seq anno feature ids: VSP_038779
up seq anno feature ids: VSP_038780

9606:WIPF2
gene id: 9606:WIPF2
uniprot id: Q8TF74
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Asymmetric dimethylarginine
up seq anno comments: Binds actin
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: WAS/WASL-interacting protein family member 2
up seq anno comments: WH2
up seq anno feature ids: PRO_0000065975
up seq anno feature ids: VSP_012967

9606:VN1R2
gene id: 9606:VN1R2
uniprot id: Q8NFZ6
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=0
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Vomeronasal type-1 receptor 2
up seq anno feature ids: PRO_0000070214
up seq anno feature ids: VAR_022798

9606:CTNNBL1
gene id: 9606:CTNNBL1
uniprot id: Q8WYA6
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: ARM 1
up seq anno comments: ARM 2
up seq anno comments: ARM 3
up seq anno comments: ARM 4
up seq anno comments: ARM 5
up seq anno comments: Basic and acidic residues
up seq anno comments: Beta-catenin-like protein 1
up seq anno comments: Disordered
up seq anno comments: HEAT 1
up seq anno comments: HEAT 2
up seq anno comments: In IMD99; when expressed in a B lymphocyte cell line, leads to decreased frequencies of somatic hypermutations, a process involved in the production of isotype-switched high-affinity antibodies, the defect that can be rescued by the wild-type protein; decrease interaction with AICDA, hence impairs AICDA nuclear localization; may decrease protein stability; no effect on interaction with CDC5L.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: N-acetylmethionine
up seq anno comments: N6-acetyllysine
up seq anno comments: No change in NLS binding nor folding.
up seq anno comments: Nuclear and cytoplasmic localization.
up seq anno comments: Nuclear export signal (NES)
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000079490
up seq anno feature ids: VAR_059638
up seq anno feature ids: VAR_087117
up seq anno feature ids: VSP_004058
up seq anno feature ids: VSP_004059
up seq anno feature ids: VSP_015182
up seq anno feature ids: VSP_055261

9606:UGDH
gene id: 9606:UGDH
uniprot id: O60701
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes hydrolysis of the covalent intermediate between substrate and the catalytic cysteine residue.
up seq anno comments: Allosteric switch region
up seq anno comments: Disordered
up seq anno comments: Impairs protein folding. Decreases affinity for UDP-glucose. No effect on inhibition by UDP-xylose. No effect on hysteresis and cooperativity.
up seq anno comments: Important for formation of active hexamer structure
up seq anno comments: In DEE84.
up seq anno comments: In DEE84; decreased function in glycosaminoglycan biosynthetic process in patient cells; severely decreased protein stability; decreased hexamer formation; severe decrease of UDP-glucose 6-dehydrogenase activity.
up seq anno comments: In DEE84; severely decreased protein stability; decreased hexamer formation; severe decrease of UDP-glucose 6-dehydrogenase activity.
up seq anno comments: In DEE84; unknown pathological significance.
up seq anno comments: In DEE84; unknown pathological significance; may affect splicing.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of enzyme activity.
up seq anno comments: Loss of hexamer formation. Causes formation of stable dimers. Strongly decreased specific activity at pH 8.4.
up seq anno comments: Loss of hexamer formation. Causes formation of stable dimers. Strongly reduced affinity for NAD and UDP-glucose, and strongly decreased catalytic efficiency at pH 8.6.
up seq anno comments: N6-acetyllysine
up seq anno comments: Nearly abolishes enzyme activity. Stabilizes the enzyme in a low-activity hexameric conformation.
up seq anno comments: No effect on the intrinsically disordered nature of the C-terminus. No effect on affinity for the inhibitor UDP-xylose.
up seq anno comments: No significant effect on catalytic activity and on affinity for NAD and UDP-glucose. Decreases affinity for the inhibitor UDP-xylose. Disrupts hysteresis and cooperativity.
up seq anno comments: Nucleophile
up seq anno comments: Phosphoserine
up seq anno comments: Proton donor/acceptor
up seq anno comments: Reduced affinity for UDP-glucose, and reduced catalytic efficiency.
up seq anno comments: Stabilizes the active conformation of the hexamer. Decreases affinity for UDP-xylose, but not for UDP-glucose. Disrupts hysteresis and cooperativity.
up seq anno comments: Strongly decreases affinity for the inhibitor UDP-xylose.
up seq anno comments: UDP-glucose 6-dehydrogenase
up seq anno feature ids: PRO_0000074060
up seq anno feature ids: VAR_083750
up seq anno feature ids: VAR_083751
up seq anno feature ids: VAR_083752
up seq anno feature ids: VAR_083753
up seq anno feature ids: VAR_083754
up seq anno feature ids: VAR_083755
up seq anno feature ids: VAR_083756
up seq anno feature ids: VAR_083757
up seq anno feature ids: VAR_083758
up seq anno feature ids: VAR_083759
up seq anno feature ids: VAR_083760
up seq anno feature ids: VAR_083761
up seq anno feature ids: VAR_083762
up seq anno feature ids: VAR_083763
up seq anno feature ids: VAR_083764
up seq anno feature ids: VAR_083765
up seq anno feature ids: VAR_083766
up seq anno feature ids: VAR_083767
up seq anno feature ids: VAR_083768
up seq anno feature ids: VAR_083769
up seq anno feature ids: VAR_083770

9606:ARHGEF38
gene id: 9606:ARHGEF38
uniprot id: Q9NXL2
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: BAR
up seq anno comments: DH
up seq anno comments: Disordered
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 1.
up seq anno comments: Phosphothreonine
up seq anno comments: Rho guanine nucleotide exchange factor 38
up seq anno comments: SH3 1
up seq anno comments: SH3 2
up seq anno feature ids: PRO_0000318987
up seq anno feature ids: VAR_038928
up seq anno feature ids: VAR_038929
up seq anno feature ids: VSP_053830

9606:SHISA3
gene id: 9606:SHISA3
uniprot id: A0PJX4
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: Lumenal
up seq anno comments: Protein shisa-3 homolog
up seq anno feature ids: PRO_0000330025
up seq anno feature ids: VAR_042687

9606:PFKP
gene id: 9606:PFKP
uniprot id: A0A7I2V3Z0
uniprot id: B1APP6
uniprot id: Q01813
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: ATP-dependent 6-phosphofructokinase, platelet type
up seq anno comments: C-terminal regulatory PFK domain 2
up seq anno comments: Decreased interaction with ATG4B.
up seq anno comments: In isoform 2.
up seq anno comments: Interdomain linker
up seq anno comments: N-acetylmethionine
up seq anno comments: N-terminal catalytic PFK domain 1
up seq anno comments: N6-acetyllysine
up seq anno comments: O-linked (GlcNAc) serine
up seq anno comments: Phosphofructokinase
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Proton acceptor
up seq anno comments: in other chain
up seq anno feature ids: PRO_0000112024
up seq anno feature ids: PRO_5019859887
up seq anno feature ids: VSP_046416

9606:ZNF561
gene id: 9606:ZNF561
uniprot id: A8KAD9
uniprot id: Q8N587
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 12
up seq anno comments: C2H2-type 1; degenerate
up seq anno comments: C2H2-type 2; degenerate
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4; degenerate
up seq anno comments: C2H2-type 5; degenerate
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 561
up seq anno feature ids: PRO_0000047650
up seq anno feature ids: VSP_055964

9606:ZNF440
gene id: 9606:ZNF440
uniprot id: Q8IYI8
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 12
up seq anno comments: C2H2-type 1; degenerate
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5; degenerate
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 440
up seq anno feature ids: PRO_0000047589
up seq anno feature ids: VAR_052828
up seq anno feature ids: VAR_052829
up seq anno feature ids: VAR_059915
up seq anno feature ids: VAR_059916

9606:GTPBP2
gene id: 9606:GTPBP2
uniprot id: A8K2K2
uniprot id: Q9BX10
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: GTP-binding protein 2
up seq anno comments: In JABELS; unknown pathological significance.
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Tr-type G
up seq anno comments: tr-type G
up seq anno feature ids: PRO_0000248500
up seq anno feature ids: VAR_080975
up seq anno feature ids: VAR_080976
up seq anno feature ids: VAR_080977
up seq anno feature ids: VSP_052154
up seq anno feature ids: VSP_052155
up seq anno feature ids: VSP_052156

9606:SERP1
gene id: 9606:SERP1
uniprot id: Q9Y6X1
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical; Anchor for type IV membrane protein
up seq anno comments: Stress-associated endoplasmic reticulum protein 1
up seq anno feature ids: PRO_0000274794

9606:TPO
gene id: 9606:TPO
uniprot id: P07202
uniprot id: Q502Y3
uniprot id: Q6P534
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: EGF-like
up seq anno comments: EGF-like; calcium-binding
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In TDH2A.
up seq anno comments: In TDH2A; fails to localize to the plasma membrane.
up seq anno comments: In TDH2A; loss of activity.
up seq anno comments: In TDH2A; partial defect; expressed on the plasma membrane surface at less than half the rate of wild-type enzyme.
up seq anno comments: In TDH2A; partial defect; expression slightly lower in efficiency and more degenerative than wild-type enzyme.
up seq anno comments: In TDH2A; unknown pathological significance.
up seq anno comments: In isoform 2, isoform 2-3, isoform 2-4 and isoform 6.
up seq anno comments: In isoform 3 and isoform 2-3.
up seq anno comments: In isoform 4 and isoform 2-4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Proton acceptor
up seq anno comments: Sushi
up seq anno comments: Thyroid peroxidase
up seq anno comments: Transition state stabilizer
up seq anno comments: axial binding residue
up seq anno comments: covalent
up seq anno feature ids: PRO_0000023662
up seq anno feature ids: PRO_5004247508
up seq anno feature ids: PRO_5004278002
up seq anno feature ids: VAR_006057
up seq anno feature ids: VAR_006058
up seq anno feature ids: VAR_006059
up seq anno feature ids: VAR_006060
up seq anno feature ids: VAR_006061
up seq anno feature ids: VAR_006062
up seq anno feature ids: VAR_013138
up seq anno feature ids: VAR_015375
up seq anno feature ids: VAR_021622
up seq anno feature ids: VAR_021623
up seq anno feature ids: VAR_021624
up seq anno feature ids: VAR_021625
up seq anno feature ids: VAR_021626
up seq anno feature ids: VAR_021627

9606:USP49
gene id: 9606:USP49
uniprot id: Q70CQ1
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Loss of deubiquitinase activity.
up seq anno comments: Nucleophile
up seq anno comments: Polar residues
up seq anno comments: Proton acceptor
up seq anno comments: UBP-type
up seq anno comments: USP
up seq anno comments: Ubiquitin carboxyl-terminal hydrolase 49
up seq anno feature ids: PRO_0000080678
up seq anno feature ids: VSP_011556

9606:CYTH1
gene id: 9606:CYTH1
uniprot id: B7Z9W0
uniprot id: Q15438
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: C-terminal autoinhibitory region
up seq anno comments: Cytohesin-1
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-acetylmethionine
up seq anno comments: PH
up seq anno comments: Reduces guanine exchange factor activity by over 90%.
up seq anno comments: SEC7
up seq anno feature ids: PRO_0000120194
up seq anno feature ids: VSP_006034
up seq anno feature ids: VSP_055884

9606:COL8A2
gene id: 9606:COL8A2
uniprot id: E9PP49
uniprot id: P25067
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: C1q
up seq anno comments: Collagen alpha-2(VIII) chain
up seq anno comments: Disordered
up seq anno comments: In FECD1 and PPCD2.
up seq anno comments: In FECD1.
up seq anno comments: In FECD1; unknown pathological significance.
up seq anno comments: Nonhelical region (NC1)
up seq anno comments: Nonhelical region (NC2)
up seq anno comments: Pro residues
up seq anno comments: Triple-helical region
up seq anno feature ids: PRO_0000005835
up seq anno feature ids: VAR_017893
up seq anno feature ids: VAR_017894
up seq anno feature ids: VAR_017895
up seq anno feature ids: VAR_017896
up seq anno feature ids: VAR_017897
up seq anno feature ids: VAR_017898
up seq anno feature ids: VAR_017899
up seq anno feature ids: VAR_017900
up seq anno feature ids: VAR_021387

9606:DYNAP
gene id: 9606:DYNAP
uniprot id: K7EMN5
uniprot id: Q8N1N2
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: CLLAC-motif containing
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Dynactin-associated protein
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000079315
up seq anno feature ids: VAR_033751
up seq anno feature ids: VAR_033752

9606:C1QTNF5
gene id: 9606:C1QTNF5
uniprot id: Q9BXJ0
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: C1q
up seq anno comments: Collagen-like
up seq anno comments: Complement C1q tumor necrosis factor-related protein 5
up seq anno comments: Disordered
up seq anno comments: In LORD.
up seq anno feature ids: PRO_0000003535
up seq anno feature ids: VAR_032628
up seq anno feature ids: VAR_032629

9606:MARCHF2
gene id: 9606:MARCHF2
uniprot id: Q9P0N8
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno labels: Zinc Finger
up seq anno comments: Abolishes ubiquitination of ERGIC3 and CFTR, and degradation of CFTR; when associated with S-64. Reduces ubiquitination of DLG1; when associated with S-64, S-106 and S-109. Reduces inhibition of HIV-1 virus production and VSVG protein expression; when associated with S-64. Abolishes ubiquitination of IKBKG/NEMO; when associated with S-64 and Q-90.
up seq anno comments: Abolishes ubiquitination of ERGIC3 and CFTR, and degradation of CFTR; when associated with S-67. Reduces ubiquitination of DLG1 ; when associated with S-67, S-106 and S-109. Reduces inhibition of HIV-1 virus production and VSVG protein expression; when associated with S-67. Abolishes ubiquitination of IKBKG/NEMO; when associated with S-67 and Q-90.
up seq anno comments: Abolishes ubiquitination of IKBKG/NEMO; when associated with S-64 and S-67.
up seq anno comments: Abolishes ubiquitination of and interaction with DLG1; when associated with A-97.
up seq anno comments: E3 ubiquitin-protein ligase MARCHF2
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: RING-CH-type
up seq anno comments: Reduces ubiquitination of DLG1. No effect on interaction with DLG1. Abolishes ubiquitination of and interaction with DLG1; when associated with 243-E--V-246 DEL.
up seq anno comments: Reduces ubiquitination of DLG1; when associated with S-64, S-67 and S-106.
up seq anno comments: Reduces ubiquitination of DLG1; when associated with S-64, S-67 and S-109.
up seq anno comments: Required for inhibition of HIV-1 virus production and VSV G protein expression
up seq anno comments: Required for interaction with IKBKG
up seq anno feature ids: PRO_0000055925
up seq anno feature ids: VAR_030303
up seq anno feature ids: VAR_053638
up seq anno feature ids: VSP_041478

9606:SIX2
gene id: 9606:SIX2
uniprot id: Q8TBA2
uniprot id: Q9NPC8
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Homeobox
up seq anno comments: Homeobox protein SIX2
up seq anno comments: In a renal hypodysplasia patient.
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000049297
up seq anno feature ids: VAR_071207
up seq anno feature ids: VAR_071208
up seq anno feature ids: VAR_071209

9606:SCN2A
gene id: 9606:SCN2A
uniprot id: Q99250
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: INTRAMEM
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: INTRAMEM
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Binds Mu-conotoxin KIIIA
up seq anno comments: Binds Mu-conotoxin KIIIA; via amide nitrogen
up seq anno comments: Binds Mu-conotoxin KIIIA; via carbonyl oxygen
up seq anno comments: Binds SCN2B
up seq anno comments: Binds SCN2B; via carbonyl oxygen
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Found in a patient with Dravet syndrome; unknown pathological significance.
up seq anno comments: Found in a patient with acute encephalitis with refractory and repetitive partial seizures; unknown pathological significance.
up seq anno comments: Found in a patient with acute encephalopathy with biphasic seizures, late reduced diffusion and in a patient with Dravet syndrome; unknown pathological significance.
up seq anno comments: Found in a patient with autism spectrum disorder; unknown pathological significance.
up seq anno comments: Found in a patient with autism; unknown pathological significance.
up seq anno comments: Found in a patient with non-specific acute encephalopathy; unknown pathological significance.
up seq anno comments: Found in a patient with schizofrenia; unknown pathological significance.
up seq anno comments: Found in autism; unknown pathological significance.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)
up seq anno comments: Helical; Name=S1 of repeat I
up seq anno comments: Helical; Name=S1 of repeat II
up seq anno comments: Helical; Name=S1 of repeat III
up seq anno comments: Helical; Name=S1 of repeat IV
up seq anno comments: Helical; Name=S2 of repeat I
up seq anno comments: Helical; Name=S2 of repeat II
up seq anno comments: Helical; Name=S2 of repeat III
up seq anno comments: Helical; Name=S2 of repeat IV
up seq anno comments: Helical; Name=S3 of repeat I
up seq anno comments: Helical; Name=S3 of repeat II
up seq anno comments: Helical; Name=S3 of repeat III
up seq anno comments: Helical; Name=S3 of repeat IV
up seq anno comments: Helical; Name=S4 of repeat I
up seq anno comments: Helical; Name=S4 of repeat II
up seq anno comments: Helical; Name=S4 of repeat III
up seq anno comments: Helical; Name=S4 of repeat IV
up seq anno comments: Helical; Name=S5 of repeat I

9606:NRG2
gene id: 9606:NRG2
uniprot id: F5GZS7
uniprot id: O14511
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: EGF-like
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Helical; Note=Internal signal sequence
up seq anno comments: Ig-like
up seq anno comments: Ig-like C2-type
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3 and isoform DON-1B.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: In isoform DON-1B.
up seq anno comments: In isoform DON-1R.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Neuregulin-2
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Pro-neuregulin-2, membrane-bound isoform
up seq anno feature ids: PRO_0000019472
up seq anno feature ids: PRO_0000019473
up seq anno feature ids: PRO_0000019474
up seq anno feature ids: VSP_003451
up seq anno feature ids: VSP_003452
up seq anno feature ids: VSP_003453
up seq anno feature ids: VSP_003454
up seq anno feature ids: VSP_003455
up seq anno feature ids: VSP_003456
up seq anno feature ids: VSP_003457
up seq anno feature ids: VSP_003458
up seq anno feature ids: VSP_003459

9606:BTBD2
gene id: 9606:BTBD2
uniprot id: Q9BX70
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: BTB
up seq anno comments: BTB/POZ domain-containing protein 2
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000186210
up seq anno feature ids: VSP_010562

9606:C3orf52
gene id: 9606:C3orf52
uniprot id: Q5BVD1
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In HYPT15; loss of expression in homozygous patient cells.
up seq anno comments: In HYPT15; reduced expression in homozygous patient cells; does not localize to the cell membrane; decreased interaction with LIPH; results in strongly decreased LIPH-mediated synthesis of 2-acyl lysophosphatidic acid.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: TPA-induced transmembrane protein
up seq anno feature ids: PRO_0000248024
up seq anno feature ids: VAR_027203
up seq anno feature ids: VAR_027204
up seq anno feature ids: VAR_059736
up seq anno feature ids: VAR_087942
up seq anno feature ids: VAR_087943
up seq anno feature ids: VSP_036120
up seq anno feature ids: VSP_036121

9606:ARX
gene id: 9606:ARX
uniprot id: Q96QS3
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Abolishes sequence-specific DNA-binding; reduces transcriptional repression of LMO1 and SHOX2. Abolishes transcriptional activation of KDM5C.
up seq anno comments: Acidic residues
up seq anno comments: Disordered
up seq anno comments: Homeobox
up seq anno comments: Homeobox protein ARX
up seq anno comments: In ACCAG; abolishes transcriptional activation of KDM5C; abolishes sequence-specific DNA-binding; reduces transcriptional repression of LMO1 and SHOX2.
up seq anno comments: In DEE1 and PRTS; also found in non-specific intellectual disability families; frequent variant.
up seq anno comments: In DEE1.
up seq anno comments: In DEE1; corpus callosum hypoplasia and simplified gyral pattern observed in one patient; reduces sequence-specific DNA-binding; slightly reduces transcriptional repression of LMO1.
up seq anno comments: In LISX2.
up seq anno comments: In LISX2; abolishes transcriptional activation of KDM5C; abolishes sequence-specific DNA-binding; reduces transcriptional repression of LMO1 and SHOX2.
up seq anno comments: In LISX2; severe phenotype.
up seq anno comments: In XLID29.
up seq anno comments: OAR
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000048819
up seq anno feature ids: VAR_015177
up seq anno feature ids: VAR_015178
up seq anno feature ids: VAR_015179
up seq anno feature ids: VAR_015180
up seq anno feature ids: VAR_015669
up seq anno feature ids: VAR_015670
up seq anno feature ids: VAR_015671
up seq anno feature ids: VAR_033260
up seq anno feature ids: VAR_033261
up seq anno feature ids: VAR_033262
up seq anno feature ids: VAR_033263

9606:STK4
gene id: 9606:STK4
uniprot id: A0A087WVN8
uniprot id: Q13043
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Cleavage; by caspase-3
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Loss of activity.
up seq anno comments: Loss of homodimerization, activation, and autophosphorylation.
up seq anno comments: N-acetylmethionine
up seq anno comments: No effect on activity.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by PKB/AKT1
up seq anno comments: Phosphothreonine; by autocatalysis
up seq anno comments: Phosphotyrosine
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Resistant to proteolytic cleavage by caspase during apoptosis; when associated with N-326.
up seq anno comments: Resistant to proteolytic cleavage by caspase during apoptosis; when associated with N-349.
up seq anno comments: SARAH
up seq anno comments: Serine/threonine-protein kinase 4
up seq anno comments: Serine/threonine-protein kinase 4 18kDa subunit
up seq anno comments: Serine/threonine-protein kinase 4 37kDa subunit
up seq anno feature ids: PRO_0000086691
up seq anno feature ids: PRO_0000413735
up seq anno feature ids: PRO_0000413736
up seq anno feature ids: VAR_027040
up seq anno feature ids: VAR_041123
up seq anno feature ids: VAR_041124
up seq anno feature ids: VAR_041125
up seq anno feature ids: VAR_041126
up seq anno feature ids: VSP_019851
up seq anno feature ids: VSP_019852

9606:NAA16
gene id: 9606:NAA16
uniprot id: A4FU51
uniprot id: Q6N069
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: N-alpha-acetyltransferase 16, NatA auxiliary subunit
up seq anno comments: TPR
up seq anno comments: TPR 1
up seq anno comments: TPR 2
up seq anno comments: TPR 3
up seq anno comments: TPR 4
up seq anno comments: TPR 5
up seq anno comments: TPR 6
up seq anno comments: TPR 7
up seq anno feature ids: PRO_0000106297
up seq anno feature ids: VAR_052618
up seq anno feature ids: VSP_012562
up seq anno feature ids: VSP_012563
up seq anno feature ids: VSP_012564
up seq anno feature ids: VSP_012565
up seq anno feature ids: VSP_012566
up seq anno feature ids: VSP_012567
up seq anno feature ids: VSP_012568
up seq anno feature ids: VSP_012569

9606:TNIP3
gene id: 9606:TNIP3
uniprot id: Q96KP6
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Abolishes ubiquitin binding; loss of inhibitory activity on NF-kappa-B activation.
up seq anno comments: Disordered
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: TNFAIP3-interacting protein 3
up seq anno comments: Ubiquitin-binding domain (UBD)
up seq anno feature ids: PRO_0000072607
up seq anno feature ids: VAR_057006
up seq anno feature ids: VSP_045101
up seq anno feature ids: VSP_045102
up seq anno feature ids: VSP_045103

9606:ARL6IP6
gene id: 9606:ARL6IP6
uniprot id: B3KMZ5
uniprot id: Q8N6S5
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Transmembrane
up seq anno comments: ADP-ribosylation factor-like protein 6-interacting protein 6
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000307324

9606:ZNF593
gene id: 9606:ZNF593
uniprot id: O00488
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: C2H2-type
up seq anno comments: Disordered
up seq anno comments: Zinc finger protein 593
up seq anno feature ids: PRO_0000047684
up seq anno feature ids: VAR_059924

9606:GPR173
gene id: 9606:GPR173
uniprot id: Q9NS66
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Probable G-protein coupled receptor 173
up seq anno feature ids: PRO_0000069650

9606:LRTM1
gene id: 9606:LRTM1
uniprot id: Q9HBL6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: LRR 1
up seq anno comments: LRR 2
up seq anno comments: LRR 3
up seq anno comments: LRR 4
up seq anno comments: LRR 5
up seq anno comments: LRRCT
up seq anno comments: LRRNT
up seq anno comments: Leucine-rich repeat and transmembrane domain-containing protein 1
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000279756
up seq anno feature ids: VAR_051144
up seq anno feature ids: VAR_051145
up seq anno feature ids: VSP_023507

9606:CEP170B
gene id: 9606:CEP170B
uniprot id: Q9Y4F5
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Centrosomal protein of 170 kDa protein B
up seq anno comments: Disordered
up seq anno comments: FHA
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000282889
up seq anno feature ids: VSP_024247
up seq anno feature ids: VSP_024248

9606:ABCG2
gene id: 9606:ABCG2
uniprot id: Q9UNQ0
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: ABC transmembrane type-2
up seq anno comments: ABC transporter
up seq anno comments: Associated with high serum levels of uric acid and increased risk of gout; results in lower urate transport rates compared to wild-type; decreased protein abundance.
up seq anno comments: Broad substrate specificity ATP-binding cassette transporter ABCG2
up seq anno comments: Cytoplasmic
up seq anno comments: Decreased estrone-3 sulfate ATPase-coupled transmembrane transporter activity. Decreased substrate-induced ATP hydrolysis. Decreased substrate transport.
up seq anno comments: Decreased protein abundance. Decreased localization to the plasma membrane and retained intracellularly. Loss of ATPase-coupled transmembrane transporter activity.
up seq anno comments: Decreased protein abundance. No effect on substrate transmembrane transport.
up seq anno comments: Decreased protein abundance; decreased localization to the plasma membrane; no effect on ATPase-coupled transmembrane transporter activity.
up seq anno comments: Decreased protein abundance; loss of localization to the plasma membrane.
up seq anno comments: Decreased protein abundance; no effect on localization to the plasma membrane; no effect on substrate transmembrane transport; decreased ATPase activity; no effect on ATPase-coupled transmembrane transporter activity.
up seq anno comments: Decreases ATPase activity.
up seq anno comments: Decreases transport activity.
up seq anno comments: Extracellular
up seq anno comments: Found in Jr(a-) blood group phenotype.
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Increases ATPase activity.
up seq anno comments: Interchain
up seq anno comments: Loss of glycosylation.
up seq anno comments: Loss of phosphorylation by PIM1. Constitutive drug resistance independent of PIM1.
up seq anno comments: Loss of phosphorylation by PIM1. Decreased localization to the plasma membrane. Decreased homooligomerization. Loss of function in resistance to drug treatment.
up seq anno comments: Loss of protein expression.
up seq anno comments: Loss of protein expression; loss of localization to the plasma membrane.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No change in ATPase activity.
up seq anno comments: No effect on hemin binding.
up seq anno comments: No effect on protein abundance; no effect on localization to the plasma membrane; increased ATPase activity; decreased ATPase-coupled transmembrane transporter activity.
up seq anno comments: No effect on protein abundance; no effect on localization to the plasma membrane; no effect on ATPase activity; decreased ATPase-coupled transmembrane transporter activity.
up seq anno comments: No effect on protein abundance; no effect on localization to the plasma membrane; no effect on ATPase activity; no effect on substrate transmembrane transport.
up seq anno comments: No effect on protein abundance; no effect on substrate transmembrane transport.
up seq anno comments: No effect on stability. Decreased estrone-3 sulfate ATPase-coupled transmembrane transporter activity. Decreased substrate-induced ATP hydrolysis. Decreased substrate transport.
up seq anno comments: No effect on stability. Decreased estrone-3 sulfate ATPase-coupled transmembrane transporter activity. Increased basal and substrate-induced ATP hydrolysis. Decreased substrate transport.
up seq anno comments: No effect on stability. Increased estrone-3 sulfate ATPase-coupled transmembrane transporter activity. Increased basal and substrate-induced ATP hydrolysis. Increased substrate transport.
up seq anno comments: No effect on stability. Increased estrone-3 sulfate ATPase-coupled transmembrane transporter activity. Increased substrate-induced ATP hydrolysis. Increased substrate transport.
up seq anno comments: No effect on stability. No effect on estrone-3 sulfate ATPase-coupled transmembrane transporter activity. No effect on substrate-induced ATP hydrolysis. No effect on substrate transport.
up seq anno comments: No effect.
up seq anno comments: Not glycosylated
up seq anno comments: Phosphothreonine; by PIM1
up seq anno comments: Strongly reduced binding to hemin but not to PPIX.

9606:HIP1R
gene id: 9606:HIP1R
uniprot id: B3KQW8
uniprot id: B4DPL0
uniprot id: O75146
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Turn
up seq anno comments: AP180 N-terminal homology (ANTH)
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: ENTH
up seq anno comments: Huntingtin-interacting protein 1 clathrin-binding
up seq anno comments: Huntingtin-interacting protein 1-related protein
up seq anno comments: I/LWEQ
up seq anno comments: Important for actin binding
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Reduced acting binding.
up seq anno comments: Strongly reduced actin binding.
up seq anno feature ids: PRO_0000083984
up seq anno feature ids: VAR_020043
up seq anno feature ids: VAR_051029
up seq anno feature ids: VAR_051030
up seq anno feature ids: VAR_051031
up seq anno feature ids: VAR_070814
up seq anno feature ids: VSP_054238
up seq anno feature ids: VSP_054239

9606:CT45A10
gene id: 9606:CT45A10
uniprot id: P0DMU8
uniprot id: P0DMU9
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno comments: Cancer/testis antigen family 45 member A10
up seq anno comments: Cancer/testis antigen family 45 member A5
up seq anno comments: Disordered
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000308950
up seq anno feature ids: PRO_0000433032

9606:TRAPPC12
gene id: 9606:TRAPPC12
uniprot id: A0A0J9YXQ9
uniprot id: Q8WVT3
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: In PEBAS; unknown pathological significance.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: TPR
up seq anno comments: TPR 1
up seq anno comments: TPR 2
up seq anno comments: TPR 3
up seq anno comments: TPR 4
up seq anno comments: Trafficking protein particle complex subunit 12
up seq anno feature ids: PRO_0000106401
up seq anno feature ids: VAR_028442
up seq anno feature ids: VAR_035869
up seq anno feature ids: VAR_080390

9606:EIF2AK3
gene id: 9606:EIF2AK3
uniprot id: A0A804HIT4
uniprot id: B3KY45
uniprot id: Q68DI6
uniprot id: Q9NZJ5
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Eukaryotic translation initiation factor 2-alpha kinase 3
up seq anno comments: Helical
up seq anno comments: In WRS.
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000024322
up seq anno feature ids: VAR_011408
up seq anno feature ids: VAR_011409
up seq anno feature ids: VAR_011410
up seq anno feature ids: VAR_011411
up seq anno feature ids: VAR_040477
up seq anno feature ids: VAR_040478

9606:PSEN2
gene id: 9606:PSEN2
uniprot id: P49810
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: INTRAMEM
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: INTRAMEM
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In AD4.
up seq anno comments: In AD4; increased mitochondrion-endoplasmic reticulum membrane tethering resulting in increased calcium transfer to mitochondria.
up seq anno comments: In AD4; late-onset Alzheimer disease.
up seq anno comments: In AD4; likely benign variant.
up seq anno comments: In AD4; results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio; loss of function as calcium-leak channel; results in calcium overload in the endoplasmic reticulum; increased mitochondrion-endoplasmic reticulum membrane tethering resulting in increased calcium transfer to mitochondria.
up seq anno comments: In AD4; unknown pathological significance.
up seq anno comments: In CMD1V and AD4; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Lumenal
up seq anno comments: PAL
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Presenilin-2 CTF subunit
up seq anno comments: Presenilin-2 NTF subunit
up seq anno comments: Reduces production of amyloid-beta in APP processing and of NICD in NOTCH1 processing. Increased mitochondrion-endoplasmic reticulum membrane tethering resulting in increased calcium transfer to mitochondria.
up seq anno comments: Reduces production of amyloid-beta in APP processing.
up seq anno feature ids: PRO_0000025603
up seq anno feature ids: PRO_0000025604
up seq anno feature ids: VAR_006461
up seq anno feature ids: VAR_006462
up seq anno feature ids: VAR_006463
up seq anno feature ids: VAR_007958
up seq anno feature ids: VAR_009214
up seq anno feature ids: VAR_009215
up seq anno feature ids: VAR_064903
up seq anno feature ids: VAR_070027
up seq anno feature ids: VAR_081261
up seq anno feature ids: VAR_081262
up seq anno feature ids: VAR_081263
up seq anno feature ids: VSP_005194
up seq anno feature ids: VSP_043648

9606:ACAD11
gene id: 9606:ACAD11
uniprot id: Q709F0
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Acyl-CoA dehydrogenase family member 11
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-succinyllysine
up seq anno comments: Phosphotyrosine
up seq anno comments: in other chain
up seq anno feature ids: PRO_0000254145
up seq anno feature ids: VAR_028826
up seq anno feature ids: VSP_021187
up seq anno feature ids: VSP_021188

9606:RFX4
gene id: 9606:RFX4
uniprot id: Q33E94
up seq anno parent labels: Chain
up seq anno parent labels: DNA Binding
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: DNA Binding
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Necessary for dimerization
up seq anno comments: RFX-type winged-helix
up seq anno comments: Transcription factor RFX4
up seq anno feature ids: PRO_0000314237
up seq anno feature ids: VAR_037873
up seq anno feature ids: VAR_057152
up seq anno feature ids: VSP_030242
up seq anno feature ids: VSP_030243
up seq anno feature ids: VSP_030244
up seq anno feature ids: VSP_030245
up seq anno feature ids: VSP_030246

9606:DCSTAMP
gene id: 9606:DCSTAMP
uniprot id: Q9H295
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Dendritic cell-specific transmembrane protein
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000072584
up seq anno feature ids: VAR_051438
up seq anno feature ids: VSP_044787
up seq anno feature ids: VSP_044788

9606:EXOC4
gene id: 9606:EXOC4
uniprot id: Q6NX51
uniprot id: Q96A65
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Domain Extent
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Exocyst complex component 4
up seq anno comments: Exocyst complex component Sec8 N-terminal
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000118934
up seq anno feature ids: VAR_036292
up seq anno feature ids: VAR_036293
up seq anno feature ids: VSP_047159

9606:LYPD6
gene id: 9606:LYPD6
uniprot id: Q86Y78
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Lipid Binding
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Propeptide
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Able to bind to LRP6.
up seq anno comments: Abolishes binding to LRP6.
up seq anno comments: GPI-anchor amidated asparagine
up seq anno comments: In isoform 2.
up seq anno comments: Increased binding to LRP6.
up seq anno comments: Ly6/PLAUR domain-containing protein 6
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: NxI motif
up seq anno comments: Removed in mature form
up seq anno comments: Severly reduces binding to LRP6.
up seq anno comments: UPAR/Ly6
up seq anno feature ids: PRO_0000036178
up seq anno feature ids: PRO_0000457041
up seq anno feature ids: VSP_039306
up seq anno feature ids: VSP_039307

9606:SMYD4
gene id: 9606:SMYD4
uniprot id: Q8IYR2
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: Found in a patient with congenital heart defect.
up seq anno comments: Found in a renal cell carcinoma sample; somatic mutation.
up seq anno comments: MYND-type
up seq anno comments: Probable disease-associated variant found in a patient with congenital heart defect; significant loss of interaction with HDAC1; fails to rescue the abnormal cardiac phenotypes defects in zebrafish morphants.
up seq anno comments: SET
up seq anno comments: SET and MYND domain-containing protein 4
up seq anno feature ids: PRO_0000227784
up seq anno feature ids: VAR_025626
up seq anno feature ids: VAR_025627
up seq anno feature ids: VAR_025628
up seq anno feature ids: VAR_057495
up seq anno feature ids: VAR_057496
up seq anno feature ids: VAR_057497
up seq anno feature ids: VAR_057498
up seq anno feature ids: VAR_064755
up seq anno feature ids: VAR_084711
up seq anno feature ids: VAR_084712

9606:EFNA1
gene id: 9606:EFNA1
uniprot id: P20827
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Lipid Binding
up seq anno labels: Propeptide
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Ephrin RBD
up seq anno comments: Ephrin-A1
up seq anno comments: Ephrin-A1, secreted form
up seq anno comments: GPI-anchor amidated serine
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Removed in mature form
up seq anno feature ids: PRO_0000008353
up seq anno feature ids: PRO_0000008354
up seq anno feature ids: PRO_0000389630
up seq anno feature ids: VAR_014791
up seq anno feature ids: VSP_017543

9606:PARD6G
gene id: 9606:PARD6G
uniprot id: Q9BYG4
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with PARD3 and CDC42
up seq anno comments: PB1
up seq anno comments: PDZ
up seq anno comments: Partitioning defective 6 homolog gamma
up seq anno comments: Pseudo-CRIB
up seq anno feature ids: PRO_0000112518
up seq anno feature ids: VSP_047586
up seq anno feature ids: VSP_047587

9606:PHB2
gene id: 9606:PHB2
uniprot id: Q99623
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno comments: Abolishes interaction with MAP1LC3B. No effect on interaction with PHB. No effect on mitochondrial location. Abolishes rescue of Parkin-mediated mitophagy.
up seq anno comments: Decreases interaction with MAP1LC3B.
up seq anno comments: In isoform 2.
up seq anno comments: LC3-interaction region
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: Necessary for transcriptional repression
up seq anno comments: No effect on homodimerization or interaction with PHB. Decreases mitochondrial dynamics. Disrupts mitochondrial-mediated antiviral innate immune response.
up seq anno comments: No effect on interaction with MAP1LC3B.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Prohibitin-2
up seq anno comments: Reduces helicity. Decreases homodimerization and interaction with PHB. Disrupts mitochondrial dynamics. Disrupts mitochondrial-mediated antiviral innate immune response.
up seq anno comments: Removed
up seq anno feature ids: PRO_0000213884
up seq anno feature ids: VSP_045311

9606:PDGFRB
gene id: 9606:PDGFRB
uniprot id: P09619
uniprot id: Q59F04
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Acidic residues
up seq anno comments: Breakpoint for insertion to form PDE4DIP-PDGFRB fusion protein
up seq anno comments: Breakpoint for translocation to form TRIP11-PDGFRB
up seq anno comments: Breakpoint for translocation to form the CEP85L-PDGFRB fusion protein
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Ig-like C2-type 1
up seq anno comments: Ig-like C2-type 2
up seq anno comments: Ig-like C2-type 3
up seq anno comments: Ig-like C2-type 4
up seq anno comments: Ig-like C2-type 5
up seq anno comments: In IBGC4; decreased protein abundance; no effect on receptor activity; decreased PDGF signaling pathway.
up seq anno comments: In IBGC4; no effect on protein abundance; loss of PDGF beta receptor activity.
up seq anno comments: In IBGC4; no effect on protein abundance; no effect on receptor activity; decreased PDGF signaling pathway.
up seq anno comments: In IMF1.
up seq anno comments: In KOGS.
up seq anno comments: In PENTT; gain of function in protein tyrosine kinase activity; shows ligand-independent constitutive signaling.
up seq anno comments: In a breast infiltrating ductal carcinoma sample; somatic mutation.
up seq anno comments: In a gastric adenocarcinoma sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of interaction with GRB10. Abolishes interaction with RASA1. No effect on phosphatidylinositol 3-kinase activity.
up seq anno comments: Loss of kinase activity. Abolishes interaction with RASA1. No effect on phosphatidylinositol 3-kinase activity.
up seq anno comments: Loss of kinase activity; when associated with F-579. No effect on interaction with GRB10.
up seq anno comments: Loss of kinase activity; when associated with F-581. Strongly reduces interaction with SRC family kinases. No effect on interaction with GRB10.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No effect neither on interaction with GRB10 and RASA1 nor on phosphatidylinositol 3-kinase activity.
up seq anno comments: No effect on interaction with GRB10. Abolishes interaction with PLCG1; when associated with F-1021.
up seq anno comments: No effect on interaction with RASA1 and on phosphatidylinositol 3-kinase activity.

9606:TBK1
gene id: 9606:TBK1
uniprot id: Q9UHD2
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes dimerization and decreases kinase activity but no effect on phosphorylation; when associated with E-459 and E-466.
up seq anno comments: Abolishes dimerization and decreases kinase activity but no effect on phosphorylation; when associated with E-459 and E-470.
up seq anno comments: Abolishes dimerization and decreases kinase activity but no effect on phosphorylation; when associated with E-466 and E-470.
up seq anno comments: Abolishes phosphorylation and kinase activity.
up seq anno comments: Abrogates both 'Lys-48'-linked and 'Lys-33'-linked ubiquitination.
up seq anno comments: Almost abolishes interaction with TANK.
up seq anno comments: Decreased kinase activity.
up seq anno comments: Decreases interaction with TANK.
up seq anno comments: Decreases kinase activity.
up seq anno comments: Decreases kinase activity. No effect on phosphorylation.
up seq anno comments: Decreases kinase activity. Reduced phosphorylation of STING1.
up seq anno comments: Decreases phosphorylation and kinase activity.
up seq anno comments: Decreases phosphorylation and kinase activity. Abolishes dimerization.
up seq anno comments: Decreases phosphorylation and kinase activity. Abolishes dimerization; when associated with A-357 or R-448.
up seq anno comments: Decreases phosphorylation and kinase activity. Abolishes dimerization; when associated with R-355.
up seq anno comments: Decreases ubiquitination. Abolishes ubiquitination, phosphorylation and kinase activity; when associated with R-30.
up seq anno comments: Decreases ubiquitination. Abolishes ubiquitination, phosphorylation and kinase activity; when associated with R-401.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: In FTDALS4.
up seq anno comments: In FTDALS4; loss of kinase activity.
up seq anno comments: In FTDALS4; loss of kinase activity; impairs binding to OPTN.
up seq anno comments: In FTDALS4; reduced kinase activity.
up seq anno comments: In FTDALS4; unknown pathological significance.
up seq anno comments: In IIAE8; decreased expression levels.
up seq anno comments: In IIAE8; loss of kinase activity; loss of autophosphorylation at S-172; loss of IFNB induction.
up seq anno comments: In IIAE8; unknown pathological significance.
up seq anno comments: In a breast pleomorphic lobular carcinoma sample; somatic mutation.
up seq anno comments: In a colorectal adenocarcinoma sample; somatic mutation.
up seq anno comments: Interaction with AZI2, TANK and TBKBP1
up seq anno comments: Loss of IFNB induction.
up seq anno comments: Loss of kinase activity.
up seq anno comments: Loss of kinase activity. No effect on dimerization. Loss of USP38-mediated degradation.
up seq anno comments: No effect on IFNB induction.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by autocatalysis and IKKB
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Reduced phosphorylation of STING1.
up seq anno comments: Serine/threonine-protein kinase TBK1
up seq anno comments: Strongly decreases interaction with AZI2, TANK and TBKBP1. No effect on phosphorylation.
up seq anno comments: Strongly decreases interaction with TANK and TBKBP1. No effect on phosphorylation.
up seq anno comments: Ubiquitin-like
up seq anno feature ids: PRO_0000086743
up seq anno feature ids: VAR_024746
up seq anno feature ids: VAR_024747
up seq anno feature ids: VAR_041208

9606:MRGPRD
gene id: 9606:MRGPRD
uniprot id: Q8TDS7
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: Mas-related G-protein coupled receptor member D
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000069756

9606:DPYSL3
gene id: 9606:DPYSL3
uniprot id: A0A140VK07
uniprot id: Q14195
uniprot id: Q6DEN2
uniprot id: Q8IXW6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Amidohydrolase-related
up seq anno comments: Dihydropyrimidinase-related protein 3
up seq anno comments: Disordered
up seq anno comments: In isoform LCRMP-4.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by DYRK2
up seq anno comments: Phosphoserine; by GSK3
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by GSK3
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000165917
up seq anno feature ids: VAR_020485
up seq anno feature ids: VSP_042546

9606:ZIC4
gene id: 9606:ZIC4
uniprot id: Q8N9L1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type 1; atypical
up seq anno comments: C2H2-type 2; atypical
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: Polar residues
up seq anno comments: Zinc finger protein ZIC 4
up seq anno feature ids: PRO_0000047253
up seq anno feature ids: VSP_017066
up seq anno feature ids: VSP_017067
up seq anno feature ids: VSP_044484
up seq anno feature ids: VSP_045529
up seq anno feature ids: VSP_046072

9606:C10orf62
gene id: 9606:C10orf62
uniprot id: Q5T681
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Basic residues
up seq anno comments: Disordered
up seq anno comments: Phosphoserine
up seq anno comments: Uncharacterized protein C10orf62
up seq anno feature ids: PRO_0000274241
up seq anno feature ids: VAR_030216

9606:TSPAN32
gene id: 9606:TSPAN32
uniprot id: Q96QS1
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: Tetraspanin-32
up seq anno feature ids: PRO_0000219278
up seq anno feature ids: VSP_003932
up seq anno feature ids: VSP_003933
up seq anno feature ids: VSP_003934
up seq anno feature ids: VSP_003935
up seq anno feature ids: VSP_003936
up seq anno feature ids: VSP_003937
up seq anno feature ids: VSP_003938

9606:CABP5
gene id: 9606:CABP5
uniprot id: Q9NP86
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Variant
up seq anno comments: Calcium-binding protein 5
up seq anno comments: EF-hand 1
up seq anno comments: EF-hand 2
up seq anno comments: EF-hand 3
up seq anno comments: EF-hand 4
up seq anno feature ids: PRO_0000073524
up seq anno feature ids: VAR_020020
up seq anno feature ids: VAR_033695
up seq anno feature ids: VAR_048633
up seq anno feature ids: VAR_048634
up seq anno feature ids: VAR_048635

9606:SEMA6C
gene id: 9606:SEMA6C
uniprot id: Q9H3T2
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Pro residues
up seq anno comments: Sema
up seq anno comments: Semaphorin-6C
up seq anno feature ids: PRO_0000032344
up seq anno feature ids: VAR_028144
up seq anno feature ids: VSP_006046
up seq anno feature ids: VSP_006047

9606:CCDC190
gene id: 9606:CCDC190
uniprot id: Q86UF4
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Coiled-coil domain-containing protein 190
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000274498
up seq anno feature ids: VSP_022772
up seq anno feature ids: VSP_022773
up seq anno feature ids: VSP_022774

9606:NAPA
gene id: 9606:NAPA
uniprot id: P54920
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Sequence Conflict
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno comments: Alpha-soluble NSF attachment protein
up seq anno comments: Does not affect interaction with GNA12.
up seq anno comments: Increases interaction with GNA12.
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000219056

9606:HUS1
gene id: 9606:HUS1
uniprot id: O60921
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Checkpoint protein HUS1
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000225003
up seq anno feature ids: VAR_025414
up seq anno feature ids: VAR_025415
up seq anno feature ids: VAR_033999
up seq anno feature ids: VSP_056702

9606:ZNF502
gene id: 9606:ZNF502
uniprot id: Q8TBZ5
uniprot id: Q96K08
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 12
up seq anno comments: C2H2-type 13
up seq anno comments: C2H2-type 14
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Zinc finger protein 502
up seq anno feature ids: PRO_0000047623
up seq anno feature ids: VAR_024220
up seq anno feature ids: VAR_033574
up seq anno feature ids: VAR_061953

9606:GABRQ
gene id: 9606:GABRQ
uniprot id: Q9UN88
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Gamma-aminobutyric acid receptor subunit theta
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000000495
up seq anno feature ids: VAR_030761
up seq anno feature ids: VAR_030762

9606:GBP1
gene id: 9606:GBP1
uniprot id: P32455
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: (Microbial infection) Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Abolished GDPase activity.
up seq anno comments: Abolished GTPase activity.
up seq anno comments: Abolished farnesylation and recruitment to the pathogen-containing vacuoles or vacuole-escaped bacteria. Impaired ability to promote pyroptosis in response to T.gondii infection.
up seq anno comments: Abolished localization to pathogen-containing vacuoles.
up seq anno comments: Constitutively dimeric. Localizes at vesicle-like structures at the plasma membrane.
up seq anno comments: Cysteine methyl ester
up seq anno comments: GB1/RHD3-type G
up seq anno comments: GTPase domain (Globular)
up seq anno comments: Guanylate-binding protein 1
up seq anno comments: In 8KR mutant; abolished ubiquitination by S. flexneri IpaH9.8 when associated with R-207, R-209, R-210, R-382, R-562, R-567 and R-573.
up seq anno comments: In 8KR mutant; abolished ubiquitination by S. flexneri IpaH9.8 when associated with R-207, R-209, R-210, R-382, R-562, R-567 and R-587.
up seq anno comments: In 8KR mutant; abolished ubiquitination by S. flexneri IpaH9.8 when associated with R-207, R-209, R-210, R-382, R-562, R-573 and R-587.
up seq anno comments: In 8KR mutant; abolished ubiquitination by S. flexneri IpaH9.8 when associated with R-207, R-209, R-210, R-382, R-567, R-573 and R-587.
up seq anno comments: In 8KR mutant; abolished ubiquitination by S. flexneri IpaH9.8 when associated with R-207, R-209, R-210, R-562, R-567, R-573 and R-587.
up seq anno comments: In 8KR mutant; abolished ubiquitination by S. flexneri IpaH9.8 when associated with R-207, R-209, R-382, R-562, R-567, R-573 and R-587.
up seq anno comments: In 8KR mutant; abolished ubiquitination by S. flexneri IpaH9.8 when associated with R-207, R-210, R-382, R-562, R-567, R-573 and R-587.
up seq anno comments: In 8KR mutant; abolished ubiquitination by S. flexneri IpaH9.8 when associated with R-209, R-210, R-382, R-562, R-567, R-573 and R-587.
up seq anno comments: Loss of GTPase activity. Constitutively monomeric. Expressed throughout the cytoplasm, loss of vesicular accumulation. Impaired ability to promote pyroptosis in response to T.gondii infection.
up seq anno comments: Loss of association with membranes.
up seq anno comments: Removed in mature form
up seq anno comments: S-farnesyl cysteine
up seq anno comments: Strongly decreased nucleotide-binding.
up seq anno feature ids: PRO_0000190963
up seq anno feature ids: PRO_0000396777
up seq anno feature ids: VAR_014849
up seq anno feature ids: VAR_033950
up seq anno feature ids: VAR_033951
up seq anno feature ids: VAR_046550

9606:TLX1
gene id: 9606:TLX1
uniprot id: P31314
up seq anno parent labels: Chain
up seq anno parent labels: DNA Binding
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: DNA Binding
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: Homeobox
up seq anno comments: In isoform 2.
up seq anno comments: N6-acetyllysine
up seq anno comments: T-cell leukemia homeobox protein 1
up seq anno feature ids: PRO_0000049333
up seq anno feature ids: VSP_043068

9606:ACAD9
gene id: 9606:ACAD9
uniprot id: Q9H845
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Transit Peptide
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Transit Peptide
up seq anno comments: Complex I assembly factor ACAD9, mitochondrial
up seq anno comments: In MC1DN20.
up seq anno comments: In MC1DN20; unknown pathological significance.
up seq anno comments: Loss of long-chain-acyl-CoA dehydrogenase activity. Does not affect mitochondrial complex I assembly.
up seq anno comments: Mitochondrion
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-succinyllysine
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: Phosphothreonine
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000000524
up seq anno feature ids: VAR_033459
up seq anno feature ids: VAR_071892
up seq anno feature ids: VAR_071893
up seq anno feature ids: VAR_071894
up seq anno feature ids: VAR_071895
up seq anno feature ids: VAR_071896
up seq anno feature ids: VAR_071897
up seq anno feature ids: VAR_071898
up seq anno feature ids: VAR_071899
up seq anno feature ids: VAR_071900
up seq anno feature ids: VAR_071901
up seq anno feature ids: VAR_071902
up seq anno feature ids: VAR_071903
up seq anno feature ids: VAR_071904
up seq anno feature ids: VAR_071905
up seq anno feature ids: VAR_076177
up seq anno feature ids: VAR_076178
up seq anno feature ids: VAR_076179

9606:DAZ2
gene id: 9606:DAZ2
uniprot id: B4DZ07
uniprot id: Q13117
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: DAZ
up seq anno comments: DAZ 1
up seq anno comments: DAZ 10
up seq anno comments: DAZ 11
up seq anno comments: DAZ 12
up seq anno comments: DAZ 13
up seq anno comments: DAZ 14
up seq anno comments: DAZ 15
up seq anno comments: DAZ 2
up seq anno comments: DAZ 3
up seq anno comments: DAZ 4
up seq anno comments: DAZ 5
up seq anno comments: DAZ 6
up seq anno comments: DAZ 7
up seq anno comments: DAZ 8
up seq anno comments: DAZ 9
up seq anno comments: Deleted in azoospermia protein 2
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: RRM
up seq anno feature ids: PRO_0000081555
up seq anno feature ids: VSP_009452
up seq anno feature ids: VSP_009453

9606:DNAH14
gene id: 9606:DNAH14
uniprot id: Q0VDD8
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Glycosylation Site
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: Dynein axonemal heavy chain 14
up seq anno comments: GPAGTGKT motif
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 2, isoform 3 and isoform 4.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000286560
up seq anno feature ids: VAR_032116
up seq anno feature ids: VAR_032117
up seq anno feature ids: VAR_057764
up seq anno feature ids: VSP_031314
up seq anno feature ids: VSP_031315
up seq anno feature ids: VSP_031316
up seq anno feature ids: VSP_031317
up seq anno feature ids: VSP_038241
up seq anno feature ids: VSP_038242
up seq anno feature ids: VSP_038243
up seq anno feature ids: VSP_038244
up seq anno feature ids: VSP_038245
up seq anno feature ids: VSP_038246
up seq anno feature ids: VSP_038247
up seq anno feature ids: VSP_038248
up seq anno feature ids: VSP_038249
up seq anno feature ids: VSP_038250
up seq anno feature ids: VSP_038251
up seq anno feature ids: VSP_038252
up seq anno feature ids: VSP_038253
up seq anno feature ids: VSP_038254
up seq anno feature ids: VSP_038255

9606:GSTA2
gene id: 9606:GSTA2
uniprot id: A0A140VKE2
uniprot id: A8K987
uniprot id: P09210
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: GST C-terminal
up seq anno comments: GST N-terminal
up seq anno comments: Glutathione S-transferase A2
up seq anno comments: N-acetylalanine
up seq anno comments: N6-succinyllysine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000185784
up seq anno feature ids: VAR_012205
up seq anno feature ids: VAR_012206
up seq anno feature ids: VAR_014495
up seq anno feature ids: VAR_014496

9606:RHNO1
gene id: 9606:RHNO1
uniprot id: Q9BSD3
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Inhibits binding to the 9-1-1 complex. Does not inhibit interaction with TOPBP1. Inhibits localizion to sites of DNA damage.
up seq anno comments: Polar residues
up seq anno comments: RAD9, HUS1, RAD1-interacting nuclear orphan protein 1
up seq anno feature ids: PRO_0000263105
up seq anno feature ids: VSP_045307

9606:ITPA
gene id: 9606:ITPA
uniprot id: A0A0S2Z3W7
uniprot id: A0A0S2Z423
uniprot id: Q8WWI0
uniprot id: Q9BY32
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: In DEE35; unknown pathological significance.
up seq anno comments: In ITPAD; complete loss of enzymatic activity at homozygosity; partial loss of activity without ITP accumulation in heterozygous individuals.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Inosine triphosphate pyrophosphatase
up seq anno comments: N-acetylalanine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno feature ids: PRO_0000178280
up seq anno feature ids: VAR_015576
up seq anno feature ids: VAR_075084
up seq anno feature ids: VSP_042548
up seq anno feature ids: VSP_045545

9606:CCDC71L
gene id: 9606:CCDC71L
uniprot id: Q8N9Z2
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno comments: Basic residues
up seq anno comments: Coiled-coil domain-containing protein 71L
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000334673
up seq anno feature ids: VSP_033753

9606:NDC1
gene id: 9606:NDC1
uniprot id: Q9BTX1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: Nucleoporin NDC1
up seq anno comments: Perinuclear space
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000235240
up seq anno feature ids: VAR_026388
up seq anno feature ids: VSP_018396
up seq anno feature ids: VSP_018397
up seq anno feature ids: VSP_018398
up seq anno feature ids: VSP_018399
up seq anno feature ids: VSP_055331
up seq anno feature ids: VSP_055332

9606:PTK2
gene id: 9606:PTK2
uniprot id: Q05397
uniprot id: Q59GM6
uniprot id: Q59GN8
uniprot id: Q658W2
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes autophosphorylation. Abolishes interaction with SRC and activation of BMX. Reduces phosphorylation of NEDD9.
up seq anno comments: Disordered
up seq anno comments: FERM
up seq anno comments: Focal adhesion kinase 1
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
up seq anno comments: In a glioblastoma multiforme sample; somatic mutation.
up seq anno comments: In a metastatic melanoma sample; somatic mutation.
up seq anno comments: In isoform 2, isoform 3 and isoform 4.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: In isoform 7.
up seq anno comments: Interaction with ARHGEF28
up seq anno comments: Interaction with TGFB1I1
up seq anno comments: Loss of interaction with TGFB1I1.
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CDK5
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Phosphotyrosine; by RET and SRC
up seq anno comments: Phosphotyrosine; by autocatalysis
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Removed
up seq anno feature ids: PRO_0000088077
up seq anno feature ids: VAR_041682
up seq anno feature ids: VAR_041683
up seq anno feature ids: VAR_041684
up seq anno feature ids: VAR_041685
up seq anno feature ids: VAR_041686

9606:SEZ6L
gene id: 9606:SEZ6L
uniprot id: B7ZLJ8
uniprot id: Q9BYH1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: CUB
up seq anno comments: CUB 1
up seq anno comments: CUB 2
up seq anno comments: CUB 3
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 1 and isoform 2.
up seq anno comments: In isoform 1.
up seq anno comments: In isoform 2 and isoform 6.
up seq anno comments: In isoform 3 and isoform 7.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 5.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: O-glycosylated at one site
up seq anno comments: O-linked (GalNAc...) serine
up seq anno comments: Polar residues
up seq anno comments: Seizure 6-like protein
up seq anno comments: Sushi
up seq anno comments: Sushi 1
up seq anno comments: Sushi 2
up seq anno comments: Sushi 3
up seq anno comments: Sushi 4
up seq anno comments: Sushi 5
up seq anno feature ids: PRO_0000022323
up seq anno feature ids: PRO_5014300199
up seq anno feature ids: VAR_020330
up seq anno feature ids: VAR_024348
up seq anno feature ids: VAR_043338
up seq anno feature ids: VAR_043339
up seq anno feature ids: VSP_003976
up seq anno feature ids: VSP_003977
up seq anno feature ids: VSP_003978
up seq anno feature ids: VSP_003979
up seq anno feature ids: VSP_003980
up seq anno feature ids: VSP_003981
up seq anno feature ids: VSP_013022

9606:ZNF799
gene id: 9606:ZNF799
uniprot id: D3YTF2
uniprot id: Q96GE5
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 12
up seq anno comments: C2H2-type 13
up seq anno comments: C2H2-type 14
up seq anno comments: C2H2-type 15
up seq anno comments: C2H2-type 16
up seq anno comments: C2H2-type 17
up seq anno comments: C2H2-type 18
up seq anno comments: C2H2-type 1; degenerate
up seq anno comments: C2H2-type 2; degenerate
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: In isoform 2.
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 799
up seq anno feature ids: PRO_0000271017
up seq anno feature ids: VAR_029846
up seq anno feature ids: VAR_029847
up seq anno feature ids: VSP_039164

9606:CHRNA3
gene id: 9606:CHRNA3
uniprot id: P32297
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Associated with receptor activation
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In BAIPRCK; loss-of-function variant affecting ion transmembrane transport in response to acetylcholine; does not localize to plasma membrane.
up seq anno comments: In isoform 1.
up seq anno comments: In isoform 3.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Neuronal acetylcholine receptor subunit alpha-3
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000000346
up seq anno feature ids: VAR_013240
up seq anno feature ids: VAR_059110
up seq anno feature ids: VAR_083543
up seq anno feature ids: VSP_037750
up seq anno feature ids: VSP_037751

9606:TMX2
gene id: 9606:TMX2
uniprot id: Q9Y320
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: Di-lysine motif
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In NEDMCMS.
up seq anno comments: In NEDMCMS; increased homodimerization; even in absence of oxidative stress.
up seq anno comments: In NEDMCMS; may affect splicing; decreased protein abundance; homozygous patient cells show decreased mitochondrial respiratory reserve capacity and compensatory increased glycolytic activity.
up seq anno comments: In NEDMCMS; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: Increased homodimerization even in absence of oxidative stress.
up seq anno comments: Phosphoserine
up seq anno comments: Thioredoxin
up seq anno comments: Thioredoxin-related transmembrane protein 2
up seq anno feature ids: PRO_0000315752
up seq anno feature ids: VAR_083593
up seq anno feature ids: VAR_083594
up seq anno feature ids: VAR_083595
up seq anno feature ids: VAR_083596
up seq anno feature ids: VAR_083597
up seq anno feature ids: VAR_083598
up seq anno feature ids: VAR_083599
up seq anno feature ids: VAR_083600
up seq anno feature ids: VAR_083601
up seq anno feature ids: VAR_083602
up seq anno feature ids: VSP_030696

9606:EIF3F
gene id: 9606:EIF3F
uniprot id: O00303
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Mass
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Mass
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: Eukaryotic translation initiation factor 3 subunit F
up seq anno comments: In MRT67; decreased protein abundance.
up seq anno comments: MPN
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CDK11; in vitro
up seq anno comments: Pro residues
up seq anno comments: Removed
up seq anno feature ids: PRO_0000213964
up seq anno feature ids: VAR_014452
up seq anno feature ids: VAR_029267
up seq anno feature ids: VAR_081783

9606:PEAK1
gene id: 9606:PEAK1
uniprot id: Q9H792
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 50% reduction in interaction with GRB2. No effect on interaction with SHC1.
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Disrupts homodimerization.
up seq anno comments: Fails to bind SHC1. Reduced recruitment of SHC1 to focal adhesions. Slightly reduces interaction with GRB2. Does not affect interaction with RASAL2. Does not affect association with integrin ITGB1.
up seq anno comments: Impairs interaction with tensin TNS3 and association with integrin ITGB1. 50% reduction in interaction with GRB2. No effect on interaction with unphosphorylated SHC1 but reduces interaction with tyrosine-phosphorylated SHC1. Reduces focal adhesion localization. Reduces cell migration.
up seq anno comments: In a bladder carcinoma NOS sample; somatic mutation.
up seq anno comments: In a metastatic melanoma sample; somatic mutation.
up seq anno comments: Inactive tyrosine-protein kinase PEAK1
up seq anno comments: No effect on focal adhesion subcellular localization. Does not affect colocalization with F-actin.
up seq anno comments: No effect on interaction with PRAG1.
up seq anno comments: No effect on localization with actin. Decreases localization in focal adhesion. Fails to regulate focal adhesion dynamics. Decreases cell migration.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Protein kinase
up seq anno comments: Required for homodimerization
up seq anno feature ids: PRO_0000250589
up seq anno feature ids: VAR_041817
up seq anno feature ids: VAR_041818
up seq anno feature ids: VAR_041819
up seq anno feature ids: VAR_041820
up seq anno feature ids: VAR_041821
up seq anno feature ids: VAR_041822
up seq anno feature ids: VAR_041823
up seq anno feature ids: VAR_041824
up seq anno feature ids: VAR_041825
up seq anno feature ids: VAR_041826
up seq anno feature ids: VAR_041827
up seq anno feature ids: VAR_041828
up seq anno feature ids: VAR_041829

9606:MAGOHB
gene id: 9606:MAGOHB
uniprot id: Q96A72
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: N-acetylalanine
up seq anno comments: Protein mago nashi homolog 2
up seq anno comments: Removed
up seq anno feature ids: PRO_0000174146
up seq anno feature ids: VAR_036431

9606:SAMM50
gene id: 9606:SAMM50
uniprot id: Q9Y512
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: N6-methyllysine
up seq anno comments: POTRA
up seq anno comments: Sorting and assembly machinery component 50 homolog
up seq anno feature ids: PRO_0000215939
up seq anno feature ids: VAR_013768
up seq anno feature ids: VAR_057338

9606:NKPD1
gene id: 9606:NKPD1
uniprot id: A0A7N4I390
up seq anno parent labels: Domain Extent
up seq anno parent labels: Region
up seq anno parent labels: Transmembrane
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: KAP NTPase

9606:RNF103-CHMP3
gene id: 9606:RNF103-CHMP3
uniprot id: Q9Y3E7
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Crosslink
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes dimerization.
up seq anno comments: Abolishes dimerization; when associated with N-56; E-59 and 62-D-E-63.
up seq anno comments: Abolishes dimerization; when associated with S-54; E-59 and 62-D-E-63.
up seq anno comments: Abolishes dimerization; when associated with S-54; N-56 and 62-D-E-63.
up seq anno comments: Abolishes dimerization; when associated with S-54; N-56 and E-59.
up seq anno comments: Abolishes interaction with CHMP2A and assembly into helical tubes in vitro; when associated with D-59; D-168 and D-169.
up seq anno comments: Abolishes interaction with CHMP2A and assembly into helical tubes in vitro; when associated with D-62; D-168 and D-169.
up seq anno comments: Abolishes interaction with VPS4A and STAMBP.
up seq anno comments: Charged multivesicular body protein 3
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Impairs HIV-1 release; when associated with 24-S-A-25.
up seq anno comments: Impairs HIV-1 release; when associated with S-28.
up seq anno comments: Impairs interaction with VPS4A and STAMBP.
up seq anno comments: Important for autoinhibitory function
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Induces assembly with CHMP2A into helical tubes in vitro and slightly enhances inhibition of HIV-1 budding in vivo. Abolishes interaction with CHMP2A and assembly into helical tubes in vitro; when associated with D-59 and D-62.
up seq anno comments: Induces assembly with CHMP2A into helical tubes in vitro; when associated with D-48.
up seq anno comments: Induces assembly with CHMP2A into helical tubes in vitro; when associated with D-64. Enhances inhibition of HIV-1 budding in vivo; when associated with D-168 and D-169.
up seq anno comments: Interaction with STAMBP
up seq anno comments: Interaction with VPS4A
up seq anno comments: Intramolecular interaction with C-terminus
up seq anno comments: Intramolecular interaction with N-terminus
up seq anno comments: MIT-interacting motif
up seq anno comments: Membrane association; releases autoinhibition.
up seq anno comments: N-myristoyl glycine
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000211479
up seq anno feature ids: VSP_041076
up seq anno feature ids: VSP_042124
up seq anno feature ids: VSP_042125

9606:CCDC9B
gene id: 9606:CCDC9B
uniprot id: Q6ZUT6
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Coiled-coil domain-containing protein 9B
up seq anno comments: Disordered
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000295733
up seq anno feature ids: VAR_035620
up seq anno feature ids: VSP_027037
up seq anno feature ids: VSP_027038
up seq anno feature ids: VSP_027039
up seq anno feature ids: VSP_027040
up seq anno feature ids: VSP_027041
up seq anno feature ids: VSP_027042

9606:C15orf40
gene id: 9606:C15orf40
uniprot id: Q8WUR7
up seq anno parent labels: Chain
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno comments: UPF0235 protein C15orf40
up seq anno feature ids: PRO_0000139475
up seq anno feature ids: VAR_069397
up seq anno feature ids: VSP_046500
up seq anno feature ids: VSP_046501

9606:PRKCI
gene id: 9606:PRKCI
uniprot id: P41743
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: AGC-kinase C-terminal
up seq anno comments: Abolishes activity.
up seq anno comments: Disordered
up seq anno comments: In a metastatic melanoma sample; somatic mutation.
up seq anno comments: Interaction with PARD6A
up seq anno comments: Loss of interaction with ECT2, PARD6A and with SQSTM1.
up seq anno comments: N-acetylproline
up seq anno comments: No effect on activity.
up seq anno comments: No effect on interaction with SQSTM1.
up seq anno comments: No effect on the SRC-mediated phosphorylation state. No effect on SRC-induced enzyme activity. Little effect on TRAF6-mediated activation of NF-kappa-B. Decreased binding to KPNB1/importin-beta.
up seq anno comments: No effect on the SRC-mediated phosphorylation state. No effect on SRC-induced enzyme activity. No effect on TRAF6-mediated activation of NF-kappa-B.
up seq anno comments: No effect on the SRC-mediated phosphorylation state. Significant reduction of SRC-induced enzyme activity. Greatly reduced TRAF6-mediated activation of NF-kappa-B. Reduces NGF-dependent cell survival.
up seq anno comments: PB1
up seq anno comments: Phorbol-ester/DAG-type
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by PDPK1
up seq anno comments: Phosphotyrosine; by SRC
up seq anno comments: Polar residues
up seq anno comments: Protein kinase
up seq anno comments: Protein kinase C iota type
up seq anno comments: Proton acceptor
up seq anno comments: Pseudosubstrate
up seq anno comments: Regulatory domain
up seq anno comments: Removed
up seq anno comments: Required for interaction with RAB2
up seq anno comments: Slight decrease of interaction with PARD6A. Loss of interaction with PARD6A; when associated with A-85.
up seq anno comments: Slight decrease of interaction with PARD6A. Loss of interaction with PARD6A; when associated with A-91.
up seq anno feature ids: PRO_0000055710
up seq anno feature ids: VAR_042322
up seq anno feature ids: VAR_042323

9606:MYBPC3
gene id: 9606:MYBPC3
uniprot id: A5YM48
uniprot id: Q14896
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: Fibronectin type-III
up seq anno comments: Fibronectin type-III 1
up seq anno comments: Fibronectin type-III 2
up seq anno comments: Fibronectin type-III 3
up seq anno comments: Ig-like
up seq anno comments: Ig-like C2-type 1
up seq anno comments: Ig-like C2-type 2
up seq anno comments: Ig-like C2-type 3
up seq anno comments: Ig-like C2-type 4
up seq anno comments: Ig-like C2-type 5
up seq anno comments: Ig-like C2-type 6
up seq anno comments: Ig-like C2-type 7
up seq anno comments: In CMD1MM.
up seq anno comments: In CMH4 and CMD1MM.
up seq anno comments: In CMH4, CMD1MM and LVNC10.
up seq anno comments: In CMH4.
up seq anno comments: In CMH4; also found in a patient with RCM; decreases protein abundance; increases polyubiquitination level; accelerates the degradation process; no effect on phosphorylation; decreases endopeptidase activity; increases apoptotic process.
up seq anno comments: In CMH4; benign variant.
up seq anno comments: In CMH4; destabilizes the structure of Ig-like C2-type domain 5.
up seq anno comments: In CMH4; no effect on protein abundance; no effect on endopeptidase activity.
up seq anno comments: In CMH4; unknown pathological significance.
up seq anno comments: In CMH4; unknown pathological significance; as well folded and stable as the wild-type.
up seq anno comments: In LVNC10.
up seq anno comments: In isoform 2.
up seq anno comments: May act as a phenotype modifier in cardiomyopathy patients.
up seq anno comments: Myosin-binding protein C, cardiac-type
up seq anno comments: N-acetylmethionine
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PKA and PKC
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000072693
up seq anno feature ids: VAR_003917
up seq anno feature ids: VAR_003918
up seq anno feature ids: VAR_003919
up seq anno feature ids: VAR_019889
up seq anno feature ids: VAR_019890
up seq anno feature ids: VAR_019891
up seq anno feature ids: VAR_019892
up seq anno feature ids: VAR_019893
up seq anno feature ids: VAR_019894
up seq anno feature ids: VAR_019895
up seq anno feature ids: VAR_019896
up seq anno feature ids: VAR_019897
up seq anno feature ids: VAR_019898
up seq anno feature ids: VAR_019899

9606:USPL1
gene id: 9606:USPL1
uniprot id: A8K1B1
uniprot id: B3KQ64
uniprot id: Q5W0Q7
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes the SUMO-specific isopeptidase activity.
up seq anno comments: Altered SUMO-binding and SUMO-specific isopeptidase activity.
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Loss of SUMO-binding and catalytic activity.
up seq anno comments: Nucleophile
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Proton acceptor
up seq anno comments: SUMO-binding
up seq anno comments: SUMO-specific isopeptidase USPL1
up seq anno comments: USP
up seq anno feature ids: PRO_0000279526
up seq anno feature ids: VAR_030916
up seq anno feature ids: VAR_030917
up seq anno feature ids: VAR_030918
up seq anno feature ids: VAR_030919
up seq anno feature ids: VAR_030920
up seq anno feature ids: VAR_030921
up seq anno feature ids: VAR_030922
up seq anno feature ids: VAR_051542
up seq anno feature ids: VAR_051543
up seq anno feature ids: VSP_023479

9606:ATG10
gene id: 9606:ATG10
uniprot id: Q9H0Y0
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Glycyl thioester intermediate
up seq anno comments: In isoform 2.
up seq anno comments: Ubiquitin-like-conjugating enzyme ATG10
up seq anno feature ids: PRO_0000096183
up seq anno feature ids: VAR_021562
up seq anno feature ids: VAR_021563
up seq anno feature ids: VAR_024370
up seq anno feature ids: VSP_013272
up seq anno feature ids: VSP_013273

9606:SLCO1A2
gene id: 9606:SLCO1A2
uniprot id: P46721
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=10
up seq anno comments: Helical; Name=11
up seq anno comments: Helical; Name=12
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: Helical; Name=8
up seq anno comments: Helical; Name=9
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform OATP1b.
up seq anno comments: Kazal-like
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Solute carrier organic anion transporter family member 1A2
up seq anno feature ids: PRO_0000191042
up seq anno feature ids: VAR_020289
up seq anno feature ids: VAR_020290
up seq anno feature ids: VAR_020291
up seq anno feature ids: VAR_020292
up seq anno feature ids: VAR_020293
up seq anno feature ids: VAR_024644
up seq anno feature ids: VAR_036409
up seq anno feature ids: VAR_036823
up seq anno feature ids: VSP_006130
up seq anno feature ids: VSP_006131
up seq anno feature ids: VSP_006132

9606:CDKL2
gene id: 9606:CDKL2
uniprot id: A0A140VJG1
uniprot id: B4DH08
uniprot id: J3KNE8
uniprot id: Q92772
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Cyclin-dependent kinase-like 2
up seq anno comments: Disordered
up seq anno comments: In an ovarian mucinous carcinoma sample; somatic mutation.
up seq anno comments: In an ovarian papillary serous adenocarcinoma sample; somatic mutation.
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: [NKR]KIAxRE
up seq anno feature ids: PRO_0000085814
up seq anno feature ids: VAR_041987
up seq anno feature ids: VAR_041988
up seq anno feature ids: VAR_041989
up seq anno feature ids: VAR_041990
up seq anno feature ids: VAR_053928
up seq anno feature ids: VAR_053929

9606:MYLK4
gene id: 9606:MYLK4
uniprot id: A0A2R8Y4U5
uniprot id: A0A8V8TMV3
uniprot id: Q86YV6
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Helical
up seq anno comments: In a breast infiltrating ductal carcinoma sample; somatic mutation.
up seq anno comments: In a lung squamous cell carcinoma sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Myosin light chain kinase family member 4
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000261030
up seq anno feature ids: VAR_040864
up seq anno feature ids: VAR_040865
up seq anno feature ids: VAR_040866
up seq anno feature ids: VAR_040867
up seq anno feature ids: VAR_040868
up seq anno feature ids: VAR_040869
up seq anno feature ids: VAR_040870
up seq anno feature ids: VAR_051650
up seq anno feature ids: VSP_026948

9606:HRH4
gene id: 9606:HRH4
uniprot id: B2KJ49
uniprot id: Q9H3N8
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: Histamine H4 receptor
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000069693
up seq anno feature ids: VAR_033477
up seq anno feature ids: VAR_033478
up seq anno feature ids: VSP_042737

9606:WDR47
gene id: 9606:WDR47
uniprot id: O94967
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: CTLH
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: In isoform 4.
up seq anno comments: LisH
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: WD 1
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno comments: WD 7
up seq anno comments: WD repeat-containing protein 47
up seq anno feature ids: PRO_0000051397
up seq anno feature ids: VSP_012093
up seq anno feature ids: VSP_035045
up seq anno feature ids: VSP_046727

9606:GJA3
gene id: 9606:GJA3
uniprot id: Q9Y6H8
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: INTRAMEM
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: INTRAMEM
up seq anno labels: Initiator Methionine
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Abolishes formation of gap junctions. No significant effect on formation of functional hemichannels.
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Gap junction alpha-3 protein
up seq anno comments: Helical
up seq anno comments: In CTRCT14.
up seq anno comments: In CTRCT14; autosomal dominant congenital/infantile 'ant-egg' cataract.
up seq anno comments: In CTRCT14; central nuclear cataract with punctate opacities.
up seq anno comments: In CTRCT14; nearly abolishes formation of gap junctions; no significant effect on formation of functional hemichannels.
up seq anno comments: In CTRCT14; nearly abolishes formation of gap junctions; no significant effect on formation of functional hemichannels; not fully penetrant mutation.
up seq anno comments: In CTRCT14; nuclear cataract.
up seq anno comments: In CTRCT14; nuclear progressive cataract.
up seq anno comments: In CTRCT14; nuclear pulverulent and posterior polar cataract; the mutant affects the formation of gap junction plaques; affects hemichannel permeability.
up seq anno comments: In CTRCT14; nuclear pulverulent cataract.
up seq anno comments: In CTRCT14; nuclear punctate cataract.
up seq anno comments: In CTRCT14; pearl box cataract.
up seq anno comments: In CTRCT14; unknown pathological significance.
up seq anno comments: Removed
up seq anno feature ids: PRO_0000057810
up seq anno feature ids: VAR_009158
up seq anno feature ids: VAR_022426
up seq anno feature ids: VAR_023447
up seq anno feature ids: VAR_030020
up seq anno feature ids: VAR_030021
up seq anno feature ids: VAR_030022
up seq anno feature ids: VAR_030023
up seq anno feature ids: VAR_038796
up seq anno feature ids: VAR_066710
up seq anno feature ids: VAR_066711
up seq anno feature ids: VAR_066712
up seq anno feature ids: VAR_066713
up seq anno feature ids: VAR_066714
up seq anno feature ids: VAR_066715
up seq anno feature ids: VAR_066716
up seq anno feature ids: VAR_066717
up seq anno feature ids: VAR_066718
up seq anno feature ids: VAR_066719
up seq anno feature ids: VAR_072762
up seq anno feature ids: VAR_072763
up seq anno feature ids: VAR_075211
up seq anno feature ids: VAR_084808
up seq anno feature ids: VAR_084809

9606:FCGR3B
gene id: 9606:FCGR3B
uniprot id: A0A3B3ISU3
uniprot id: O75015
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Lipid Binding
up seq anno labels: Mutagenesis Site
up seq anno labels: Propeptide
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Transmembrane
up seq anno comments: Abolishes membrane anchoring via glycosylphosphatidylinositol.
up seq anno comments: GPI-anchor amidated serine
up seq anno comments: Has no effect on membrane anchoring via glycosylphosphatidylinositol.
up seq anno comments: Helical
up seq anno comments: Ig-like
up seq anno comments: Ig-like C2-type 1
up seq anno comments: Ig-like C2-type 2
up seq anno comments: In allele FCGR3B*01.
up seq anno comments: In allele SH.
up seq anno comments: Low affinity immunoglobulin gamma Fc region receptor III-B
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Removed in mature form
up seq anno feature ids: PRO_0000015151
up seq anno feature ids: PRO_0000015152
up seq anno feature ids: PRO_5017302676
up seq anno feature ids: VAR_003956
up seq anno feature ids: VAR_003957
up seq anno feature ids: VAR_003963
up seq anno feature ids: VAR_003964
up seq anno feature ids: VAR_008802

9606:KBTBD3
gene id: 9606:KBTBD3
uniprot id: A8K1K0
uniprot id: G3V161
uniprot id: Q8NAB2
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: BACK
up seq anno comments: BTB
up seq anno comments: Kelch 1
up seq anno comments: Kelch 2
up seq anno comments: Kelch 3
up seq anno comments: Kelch 4
up seq anno comments: Kelch 5
up seq anno comments: Kelch repeat and BTB domain-containing protein 3
up seq anno feature ids: PRO_0000119078
up seq anno feature ids: VAR_056124

9606:ETFRF1
gene id: 9606:ETFRF1
uniprot id: Q6IPR1
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno comments: Electron transfer flavoprotein regulatory factor 1
up seq anno feature ids: PRO_0000251182

9606:ZNF506
gene id: 9606:ZNF506
uniprot id: Q5JVG8
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: In isoform 2.
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 506
up seq anno feature ids: PRO_0000047624
up seq anno feature ids: VAR_057421
up seq anno feature ids: VSP_040653

9606:ATRX
gene id: 9606:ATRX
uniprot id: A4LAA3
uniprot id: B4DLW1
uniprot id: P46100
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: ADD
up seq anno comments: Abolishes ATPAse activity, no effect on pericentromeric heterochromatin localization.
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: DEGH box
up seq anno comments: Disordered
up seq anno comments: GATA-type; atypical
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: Helicase ATP-binding
up seq anno comments: Helicase C-terminal
up seq anno comments: Impairs interaction with histone H3 peptides and reduces localization to pericentromeric heterochromatin foci.
up seq anno comments: Impairs interaction with histone H3 peptides trimethylated at 'Lys-10' (H3K9me3) and reduces localization to pericentromeric heterochromatin foci.
up seq anno comments: Impairs interaction with histone H3 peptides trimethylated at 'Lys-10' (H3K9me3).
up seq anno comments: Impairs interaction with histone H3 peptides trimethylated at 'Lys-10' (H3K9me3); loss of heterochromatic localization.
up seq anno comments: Impairs interaction with histone H3 peptides unmethylated at 'Lys-5' (H3K4me0); reduces pericentromeric localization.
up seq anno comments: In ATRX.
up seq anno comments: In ATRX; atypical; patients presents spastic paraplegia at birth.
up seq anno comments: In ATRX; greatly impairs interaction with histone H3 peptides trimethylated at 'Lys-10' (H3K9me3) and reduces localization to pericentromeric heterochromatin foci.
up seq anno comments: In ATRX; impairs ATPase activity.
up seq anno comments: In ATRX; impairs interaction with histone H3 peptides and reduces localization to pericentromeric heterochromatin foci.
up seq anno comments: In ATRX; impairs interaction with histone H3 peptides trimethylated at 'Lys-10' (H3K9me3) and reduces localization to pericentromeric heterochromatin foci.
up seq anno comments: In ATRX; impairs interaction with histone H3 peptides trimethylated at 'Lys-10' (H3K9me3).
up seq anno comments: In ATRX; impairs interaction with histone H3 peptides trimethylated at 'Lys-10' (H3K9me3); loss of heterochromatic localization.
up seq anno comments: In ATRX; unknown pathological significance.
up seq anno comments: In ATRX; without alpha-thalassemia.
up seq anno comments: In MRXHF1 and ATRX; originally reported as Juberg-Marsidi syndrome.
up seq anno comments: In MRXHF1.
up seq anno comments: In MRXHF1; originally reported as Carpenter-Waziri syndrome.
up seq anno comments: In isoform 1.
up seq anno comments: In isoform 2 and isoform 5.
up seq anno comments: In isoform 3 and isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: Interaction with DAXX
up seq anno comments: Interaction with MECP2
up seq anno comments: N6-acetyllysine

9606:RPLP0
gene id: 9606:RPLP0
uniprot id: P05388
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Acidic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: In isoform 2.
up seq anno comments: Large ribosomal subunit protein uL10
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno feature ids: PRO_0000154758
up seq anno feature ids: VSP_055867

9606:AANAT
gene id: 9606:AANAT
uniprot id: F1T0I5
uniprot id: Q16613
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: Found in individuals with delayed sleep phase syndrome; has higher frequency in affected individuals than in healthy controls; unknown pathological significance.
up seq anno comments: Important for the catalytic mechanism; involved in substrate deprotonation
up seq anno comments: In isoform 2.
up seq anno comments: Loss of activation by cAMP.
up seq anno comments: N-acetyltransferase
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine; by PKA
up seq anno comments: Serotonin N-acetyltransferase
up seq anno feature ids: PRO_0000074580
up seq anno feature ids: VAR_048168
up seq anno feature ids: VAR_055086
up seq anno feature ids: VSP_054108

9606:OCRL
gene id: 9606:OCRL
uniprot id: A0A2X0TVZ9
uniprot id: Q01968
uniprot id: Q504W7
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 5-phosphatase
up seq anno comments: ASH
up seq anno comments: Clathrin box 1
up seq anno comments: Clathrin box 2
up seq anno comments: Disordered
up seq anno comments: Does not affect interaction with RAB8A.
up seq anno comments: Does not interact with RAB8A. Does not localize to cilia.
up seq anno comments: In DENT2 and OCRL.
up seq anno comments: In DENT2.
up seq anno comments: In OCRL.
up seq anno comments: In OCRL; associated with C-337.
up seq anno comments: In OCRL; associated with I-361.
up seq anno comments: In OCRL; uncertain pathological significance.
up seq anno comments: In OCRL; uncertain pathological significance; abolishes FAM109A-, FAM109B- and APPL1-binding.
up seq anno comments: In isoform B.
up seq anno comments: Inositol polyphosphate 5-phosphatase OCRL
up seq anno comments: PH
up seq anno comments: Rho-GAP
up seq anno feature ids: PRO_0000209721
up seq anno feature ids: VAR_010169
up seq anno feature ids: VAR_010170
up seq anno feature ids: VAR_010171
up seq anno feature ids: VAR_010172
up seq anno feature ids: VAR_010173
up seq anno feature ids: VAR_010174
up seq anno feature ids: VAR_010175
up seq anno feature ids: VAR_010176
up seq anno feature ids: VAR_010177
up seq anno feature ids: VAR_010178
up seq anno feature ids: VAR_010179
up seq anno feature ids: VAR_010180
up seq anno feature ids: VAR_010181
up seq anno feature ids: VAR_010182
up seq anno feature ids: VAR_010183
up seq anno feature ids: VAR_010184
up seq anno feature ids: VAR_010185
up seq anno feature ids: VAR_010187
up seq anno feature ids: VAR_010188
up seq anno feature ids: VAR_010189
up seq anno feature ids: VAR_022698
up seq anno feature ids: VAR_022699
up seq anno feature ids: VAR_023957
up seq anno feature ids: VAR_023958
up seq anno feature ids: VAR_064773
up seq anno feature ids: VAR_064774
up seq anno feature ids: VAR_064775
up seq anno feature ids: VAR_064776
up seq anno feature ids: VAR_064777

9606:KIF3A
gene id: 9606:KIF3A
uniprot id: B4DHG8
uniprot id: E9PES4
uniprot id: J3KPF9
uniprot id: Q05CT3
uniprot id: Q9Y496
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Globular
up seq anno comments: Kinesin motor
up seq anno comments: Kinesin-like protein KIF3A
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000125393
up seq anno feature ids: VAR_055319

9606:MTARC1
gene id: 9606:MTARC1
uniprot id: Q5VT66
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Lipid Binding
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: MOSC
up seq anno comments: MOSC N-terminal region
up seq anno comments: Mitochondrial amidoxime-reducing component 1
up seq anno comments: Mitochondrial matrix
up seq anno comments: N-myristoyl glycine
up seq anno comments: No effect on binding of the molybdenum cofactor; no significant effect on catalytic efficiency toward benzamidoxime; no significant effect on affinity for benzamidoxime.
up seq anno comments: Removed
up seq anno feature ids: PRO_0000273335
up seq anno feature ids: VAR_030129
up seq anno feature ids: VAR_030130
up seq anno feature ids: VAR_030131
up seq anno feature ids: VAR_030132
up seq anno feature ids: VAR_056941
up seq anno feature ids: VAR_062273
up seq anno feature ids: VAR_062274
up seq anno feature ids: VSP_022511
up seq anno feature ids: VSP_022512

9606:MKRN2OS
gene id: 9606:MKRN2OS
uniprot id: H3BPM6
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno comments: MKRN2 opposite strand protein
up seq anno feature ids: PRO_0000421254

9606:ST18
gene id: 9606:ST18
uniprot id: O60284
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: CCHHC-type 1
up seq anno comments: CCHHC-type 2
up seq anno comments: CCHHC-type 3
up seq anno comments: CCHHC-type 4
up seq anno comments: CCHHC-type 5
up seq anno comments: CCHHC-type 6
up seq anno comments: Disordered
up seq anno comments: Polar residues
up seq anno comments: Suppression of tumorigenicity 18 protein
up seq anno feature ids: PRO_0000234030
up seq anno feature ids: VAR_052732

9606:RANBP3
gene id: 9606:RANBP3
uniprot id: B7Z7F3
uniprot id: Q53GE1
uniprot id: Q9H6Z4
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Ran-binding protein 3
up seq anno comments: RanBD1
up seq anno comments: Removed
up seq anno feature ids: PRO_0000097165
up seq anno feature ids: VAR_051303
up seq anno feature ids: VSP_011162
up seq anno feature ids: VSP_011163

9606:APRT
gene id: 9606:APRT
uniprot id: P07741
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Adenine phosphoribosyltransferase
up seq anno comments: In APRTD.
up seq anno comments: In APRTD; Icelandic type.
up seq anno comments: In APRTD; Japanese type; allele APRT*J; most common mutation.
up seq anno comments: In APRTD; Newfoundland type.
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000149504
up seq anno feature ids: VAR_006747
up seq anno feature ids: VAR_006748
up seq anno feature ids: VAR_006749
up seq anno feature ids: VAR_019055
up seq anno feature ids: VAR_022608
up seq anno feature ids: VAR_022609
up seq anno feature ids: VAR_037575
up seq anno feature ids: VAR_069049
up seq anno feature ids: VAR_069050
up seq anno feature ids: VAR_069051
up seq anno feature ids: VSP_045705

9606:SLC1A2
gene id: 9606:SLC1A2
uniprot id: A0A2R8Y860
uniprot id: A0A2R8YFE3
uniprot id: A0A2U3TZS7
uniprot id: A2A2U1
uniprot id: P43004
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: INTRAMEM
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: INTRAMEM
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: Discontinuously helical
up seq anno comments: Excitatory amino acid transporter 2
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: Helical; Name=8
up seq anno comments: In DEE41.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: S-palmitoyl cysteine
up seq anno feature ids: PRO_0000202061
up seq anno feature ids: VAR_077083
up seq anno feature ids: VAR_077084
up seq anno feature ids: VAR_080229
up seq anno feature ids: VSP_037152
up seq anno feature ids: VSP_054934

9606:GCN1
gene id: 9606:GCN1
uniprot id: Q92616
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Abolished interaction with RNF14 and decreased interaction with EIF2AK4/GCN2.
up seq anno comments: HEAT 1
up seq anno comments: HEAT 10
up seq anno comments: HEAT 11
up seq anno comments: HEAT 12
up seq anno comments: HEAT 13
up seq anno comments: HEAT 14
up seq anno comments: HEAT 15
up seq anno comments: HEAT 16
up seq anno comments: HEAT 17
up seq anno comments: HEAT 18
up seq anno comments: HEAT 19
up seq anno comments: HEAT 2
up seq anno comments: HEAT 20
up seq anno comments: HEAT 21
up seq anno comments: HEAT 22
up seq anno comments: HEAT 23
up seq anno comments: HEAT 24
up seq anno comments: HEAT 25
up seq anno comments: HEAT 26
up seq anno comments: HEAT 27
up seq anno comments: HEAT 28
up seq anno comments: HEAT 29
up seq anno comments: HEAT 3
up seq anno comments: HEAT 30
up seq anno comments: HEAT 31
up seq anno comments: HEAT 32
up seq anno comments: HEAT 33
up seq anno comments: HEAT 34
up seq anno comments: HEAT 35
up seq anno comments: HEAT 36
up seq anno comments: HEAT 37
up seq anno comments: HEAT 38
up seq anno comments: HEAT 39
up seq anno comments: HEAT 4
up seq anno comments: HEAT 40
up seq anno comments: HEAT 41
up seq anno comments: HEAT 42
up seq anno comments: HEAT 43
up seq anno comments: HEAT 44
up seq anno comments: HEAT 45
up seq anno comments: HEAT 46
up seq anno comments: HEAT 47; degenerate
up seq anno comments: HEAT 5
up seq anno comments: HEAT 6
up seq anno comments: HEAT 7
up seq anno comments: HEAT 8
up seq anno comments: HEAT 9
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: RWDBD region
up seq anno comments: Removed
up seq anno comments: Stalled ribosome sensor GCN1
up seq anno feature ids: PRO_0000087443
up seq anno feature ids: VAR_062228

9606:CNTN5
gene id: 9606:CNTN5
uniprot id: O94779
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Lipid Binding
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Contactin-5
up seq anno comments: Disordered
up seq anno comments: Fibronectin type-III 1
up seq anno comments: Fibronectin type-III 2
up seq anno comments: Fibronectin type-III 3
up seq anno comments: Fibronectin type-III 4
up seq anno comments: GPI-anchor amidated serine
up seq anno comments: Ig-like C2-type 1
up seq anno comments: Ig-like C2-type 2
up seq anno comments: Ig-like C2-type 3
up seq anno comments: Ig-like C2-type 4
up seq anno comments: Ig-like C2-type 5
up seq anno comments: Ig-like C2-type 6
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: Removed in mature form
up seq anno feature ids: PRO_0000014717
up seq anno feature ids: PRO_0000014718
up seq anno feature ids: VAR_019907
up seq anno feature ids: VAR_019908
up seq anno feature ids: VAR_019909
up seq anno feature ids: VAR_019910
up seq anno feature ids: VAR_019911
up seq anno feature ids: VAR_019912
up seq anno feature ids: VAR_033610
up seq anno feature ids: VSP_011967
up seq anno feature ids: VSP_045995

9606:NEPRO
gene id: 9606:NEPRO
uniprot id: B4DHL5
uniprot id: B4DJ73
uniprot id: B4DUV5
uniprot id: Q6NW34
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In ANXD3; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: Nuclear localization signal
up seq anno comments: Nucleolus and neural progenitor protein
up seq anno comments: Nucleolus and neural progenitor protein-like N-terminal
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000225012
up seq anno feature ids: VAR_025418
up seq anno feature ids: VAR_025419
up seq anno feature ids: VAR_025420
up seq anno feature ids: VAR_025421
up seq anno feature ids: VAR_025422
up seq anno feature ids: VAR_084136
up seq anno feature ids: VAR_084137
up seq anno feature ids: VSP_017342
up seq anno feature ids: VSP_017343

9606:ANO7
gene id: 9606:ANO7
uniprot id: Q6IWH7
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Anoctamin-7
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000289326
up seq anno feature ids: VAR_032616
up seq anno feature ids: VAR_065166
up seq anno feature ids: VSP_026004
up seq anno feature ids: VSP_026005
up seq anno feature ids: VSP_026006
up seq anno feature ids: VSP_026007
up seq anno feature ids: VSP_026008

9606:SPTBN4
gene id: 9606:SPTBN4
uniprot id: Q9H254
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Actin-binding
up seq anno comments: Basic and acidic residues
up seq anno comments: Calponin-homology (CH) 1
up seq anno comments: Calponin-homology (CH) 2
up seq anno comments: Disordered
up seq anno comments: In NEDHND; decreased protein abundance in patient cells homozygous for the mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: PH
up seq anno comments: Spectrin 1
up seq anno comments: Spectrin 10
up seq anno comments: Spectrin 11
up seq anno comments: Spectrin 12
up seq anno comments: Spectrin 13
up seq anno comments: Spectrin 14
up seq anno comments: Spectrin 2
up seq anno comments: Spectrin 3
up seq anno comments: Spectrin 4
up seq anno comments: Spectrin 5
up seq anno comments: Spectrin 6
up seq anno comments: Spectrin 7
up seq anno comments: Spectrin 8
up seq anno comments: Spectrin 9
up seq anno comments: Spectrin beta chain, non-erythrocytic 4
up seq anno feature ids: PRO_0000073465
up seq anno feature ids: VAR_048632
up seq anno feature ids: VAR_079212
up seq anno feature ids: VSP_000723
up seq anno feature ids: VSP_000724
up seq anno feature ids: VSP_000725
up seq anno feature ids: VSP_000726
up seq anno feature ids: VSP_000727
up seq anno feature ids: VSP_000728
up seq anno feature ids: VSP_046383
up seq anno feature ids: VSP_046384
up seq anno feature ids: VSP_046385

9606:ASIC5
gene id: 9606:ASIC5
uniprot id: Q9NY37
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Mutagenesis Site
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Acid-sensing ion channel 5
up seq anno comments: Activates the channel.
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Slightly activates the channel.
up seq anno feature ids: PRO_0000335597

9606:BTBD8
gene id: 9606:BTBD8
uniprot id: A0A8V8SD95
uniprot id: B4DYL8
uniprot id: Q5XKL5
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: BTB 1
up seq anno comments: BTB 2
up seq anno comments: BTB/POZ
up seq anno comments: BTB/POZ domain-containing protein 8
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 4.
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000239224
up seq anno feature ids: VAR_033637
up seq anno feature ids: VAR_048436
up seq anno feature ids: VAR_060300
up seq anno feature ids: VAR_060301
up seq anno feature ids: VAR_060302
up seq anno feature ids: VAR_060303
up seq anno feature ids: VAR_060304
up seq anno feature ids: VAR_060305
up seq anno feature ids: VAR_060306
up seq anno feature ids: VAR_060307
up seq anno feature ids: VAR_060308
up seq anno feature ids: VAR_060309
up seq anno feature ids: VAR_060310
up seq anno feature ids: VSP_061629
up seq anno feature ids: VSP_061630

9606:RPP40
gene id: 9606:RPP40
uniprot id: O75818
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: In isoform 2.
up seq anno comments: Ribonuclease P protein subunit p40
up seq anno feature ids: PRO_0000097434
up seq anno feature ids: VAR_055405
up seq anno feature ids: VSP_037346

9606:HERC4
gene id: 9606:HERC4
uniprot id: Q5GLZ8
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Glycyl thioester intermediate
up seq anno comments: HECT
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: Probable E3 ubiquitin-protein ligase HERC4
up seq anno comments: RCC1 1
up seq anno comments: RCC1 2
up seq anno comments: RCC1 3
up seq anno comments: RCC1 4
up seq anno comments: RCC1 5
up seq anno comments: RCC1 6
up seq anno comments: RCC1 7
up seq anno feature ids: PRO_0000278216
up seq anno feature ids: VSP_023172
up seq anno feature ids: VSP_023173
up seq anno feature ids: VSP_023174
up seq anno feature ids: VSP_023175
up seq anno feature ids: VSP_023176
up seq anno feature ids: VSP_023178
up seq anno feature ids: VSP_023179
up seq anno feature ids: VSP_039551

9606:NCBP2L
gene id: 9606:NCBP2L
uniprot id: A6PVI3
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno comments: Nuclear cap-binding protein subunit 2-like
up seq anno comments: RRM
up seq anno feature ids: PRO_0000299538

9606:OR52B4
gene id: 9606:OR52B4
uniprot id: A0A126GW82
uniprot id: Q8NGK2
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 52B4
up seq anno feature ids: PRO_0000150768
up seq anno feature ids: VAR_037834

9606:CAMK2A
gene id: 9606:CAMK2A
uniprot id: A8K161
uniprot id: Q7LDD5
uniprot id: Q8IWE0
uniprot id: Q9UQM7
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Calcium/calmodulin-dependent protein kinase type II subunit alpha
up seq anno comments: Calmodulin-binding
up seq anno comments: Disordered
up seq anno comments: In MRD53; decreased protein abundance; increased autophosphorylation; decreased neuronal migration.
up seq anno comments: In MRD53; increased basal autophosphorylation.
up seq anno comments: In MRD53; increased ubiquitin-mediated proteasomal degradation with a dominant negative effect on wild-type protein; decreased localization to dendritic spines; no effect on holoenzyme assembly; loss of interaction with SHANK3; loss of interaction with GRIN2B; loss of interaction with CACNB2; loss of interaction with LRRC7; loss of interaction with GRM5; decreased protein serine/threonine kinase activity with a dominant negative effect on wild-type protein; decreased autophosphorylation; changed dendritic spine development; decreased neuronal migration.
up seq anno comments: In MRD53; no effect on protein abundance; decreased autophosphorylation; decreased neuronal migration.
up seq anno comments: In MRD53; no effect on protein abundance; increased autophosphorylation; decreased neuronal migration.
up seq anno comments: In MRD53; no effect on protein abundance; loss of autophosphorylation; loss of neuronal migration.
up seq anno comments: In MRD53; unknown pathological significance.
up seq anno comments: In MRD53; unknown pathological significance; no effect on protein abundance; no effect on autophosphorylation; no effect on neuronal migration.
up seq anno comments: In MRT63; decreased oligomerization.
up seq anno comments: In isoform B.
up seq anno comments: Interaction with BAALC
up seq anno comments: Loss of neuronal migration.
up seq anno comments: Loss of oligomerization.
up seq anno comments: No effect on neuronal migration.
up seq anno comments: No effect on neuronal migration; when associated with R-42.
up seq anno comments: No effect on protein stability or degradation. No effect on neuronal migration; when associated with P-286.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by autocatalysis
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000086091
up seq anno feature ids: VAR_080579
up seq anno feature ids: VAR_080580
up seq anno feature ids: VAR_080581
up seq anno feature ids: VAR_080582
up seq anno feature ids: VAR_080583
up seq anno feature ids: VAR_080584
up seq anno feature ids: VAR_080585
up seq anno feature ids: VAR_080586
up seq anno feature ids: VAR_080587
up seq anno feature ids: VAR_081160
up seq anno feature ids: VAR_081161
up seq anno feature ids: VSP_004766

9606:PPP1R11
gene id: 9606:PPP1R11
uniprot id: A2BEK1
uniprot id: O60927
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Atypical RING finger domain 1
up seq anno comments: Atypical RING finger domain 2
up seq anno comments: Disordered
up seq anno comments: E3 ubiquitin-protein ligase PPP1R11
up seq anno comments: Loss of function in inducing TLR2 degradation.
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Removed
up seq anno feature ids: PRO_0000239619

9606:PTGIR
gene id: 9606:PTGIR
uniprot id: P43119
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Abolishes isoprenylation.
up seq anno comments: Cysteine methyl ester
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: Prostacyclin receptor
up seq anno comments: Removed in mature form
up seq anno comments: S-farnesyl cysteine
up seq anno feature ids: PRO_0000070075
up seq anno feature ids: PRO_0000240004
up seq anno feature ids: VAR_024260
up seq anno feature ids: VAR_061226

9606:TREM2
gene id: 9606:TREM2
uniprot id: Q5TCX1
uniprot id: Q9NZC2
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Affects protein maturation.
up seq anno comments: Cleavage of ectodomain
up seq anno comments: Cytoplasmic
up seq anno comments: Decreases LDL, CLU and APOE binding; decreases LDL and CLU uptake into cells; no effect on cell membrane localization.
up seq anno comments: Decreases binding to THP-1 cells.
up seq anno comments: Does not affect protein structure; no effect on cell membrane localization; increases autophagy in microglia; decreases LDL, CLU and APOE binding; decreases LDL uptake into cells; no effect on CLU uptake into cells; decreases the uptake of APP-LDL complex in macrophages; decreases binding to oligomeric APP cleavage product beta-amyloid peptide 42.
up seq anno comments: Does not change protein structure; changes protein stability; increases binding to THP-1 cells.
up seq anno comments: Extracellular
up seq anno comments: Found in patients with Alzheimer disease; unknown pathological significance; decreases cell membrane localization.
up seq anno comments: Found in patients with Alzheimer disease; unknown pathological significance; slightly decreases cell membrane localization.
up seq anno comments: Found in patients with late onset Alzheimer disease; unknown pathological significance; decreases cell membrane localization.
up seq anno comments: Found in patients with late onset Alzheimer disease; unknown pathological significance; increases cell membrane localization.
up seq anno comments: Found in patients with late onset Alzheimer disease; unknown pathological significance; no effect on cell membrane localization.
up seq anno comments: Found in patients with late onset Alzheimer disease; unknown pathological significance; no effect on cell membrane localization; no effect on autophagy in microglia; no effect on phagocystosis, including amyloid plaque clearance by microglia; reduces ectodomain shedding caused by proteolytic cleavage by ADAM10, while also reducing the oligomerization of the extracellular domain after shedding; decreases binding to and uptake of LDL and CLU into cells; decreases binding to APOE, phospholipids and oligomeric APP cleavage product beta-amyloid peptide 42.
up seq anno comments: Helical
up seq anno comments: Ig-like V-type
up seq anno comments: Immunoglobulin V-set
up seq anno comments: In PLOSL2.
up seq anno comments: In PLOSL2; no protein detected by Wester blot.
up seq anno comments: In PLOSL2; results in decreased osteoclast differentiation; no TREM2 transcripts can be detected in patient cells homozygous for the variant.
up seq anno comments: In PLOSL2; results in defective protein maturation; increases protein aggregation; decreases cell membrane localization.
up seq anno comments: In PLOSL2; unknown pathological significance; decreased protein level.
up seq anno comments: In PLOSL2; unknown pathological significance; increased localization at the cell membrane.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Likely benign variant; no effect on protein expression and maturation.
up seq anno comments: Loss of LDL, CLU and APOE binding.
up seq anno comments: Loss of glycosylation.
up seq anno comments: Loss of proteolytic cleavage by ADAM10 and ectodomain shedding. Decreases protein maturation and cell membrane localization.
up seq anno comments: May be associated with an increased risk for late-onset Alzheimer disease; accelerates ectodomain shedding but does not alter the cleavage site; decreases cell membrane localization; decreases phagocytosis.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No effect on cell membrane localization.
up seq anno comments: No effect on protein expression and maturation.
up seq anno comments: Results in defective protein maturation and trafficking; loss of proteolytic cleavage by ADAM10 and ectodomain shedding; increases protein aggregation; decreases cell membrane localization; decreased phagocytosis; loss of LDL, CLU and APOE binding; greatly decreases LDL and CLU uptake into cells.
up seq anno comments: Results in defective protein maturation and trafficking; loss of proteolytic cleavage by ADAM10 and ectodomain shedding; increases protein aggregation; decreases cell membrane localization; decreases phagocytosis; loss of LDL, CLU and APOE binding; greatly decreases LDL and CLU uptake into cells.
up seq anno comments: Triggering receptor expressed on myeloid cells 2
up seq anno feature ids: PRO_0000014987
up seq anno feature ids: PRO_5014309966
up seq anno feature ids: VAR_019334
up seq anno feature ids: VAR_019335
up seq anno feature ids: VAR_033625

9606:DACH1
gene id: 9606:DACH1
uniprot id: Q9UI36
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: DACHbox-C
up seq anno comments: DACHbox-N
up seq anno comments: Dachshund homolog 1
up seq anno comments: Disordered
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Interaction with SIN3A
up seq anno comments: Interaction with SIX6 and HDAC3
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000095597
up seq anno feature ids: VAR_080662
up seq anno feature ids: VSP_009486
up seq anno feature ids: VSP_009872
up seq anno feature ids: VSP_009873

9606:BCLAF1
gene id: 9606:BCLAF1
uniprot id: Q9NYF8
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Bcl-2-associated transcription factor 1
up seq anno comments: Citrulline
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000064888
up seq anno feature ids: VAR_050692
up seq anno feature ids: VAR_050693
up seq anno feature ids: VAR_050694
up seq anno feature ids: VAR_050695
up seq anno feature ids: VAR_050696
up seq anno feature ids: VAR_059591
up seq anno feature ids: VSP_010369
up seq anno feature ids: VSP_010370
up seq anno feature ids: VSP_010371

9606:LDHA
gene id: 9606:LDHA
uniprot id: P00338
uniprot id: V9HWB9
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes interaction with MP31.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: Increases binding to FLCN.
up seq anno comments: L-lactate dehydrogenase A chain
up seq anno comments: Lactate/malate dehydrogenase C-terminal
up seq anno comments: Lactate/malate dehydrogenase N-terminal
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Proton acceptor
up seq anno comments: Removed
up seq anno feature ids: PRO_0000168411
up seq anno feature ids: VAR_004180
up seq anno feature ids: VAR_004181
up seq anno feature ids: VSP_014261
up seq anno feature ids: VSP_042206
up seq anno feature ids: VSP_042786
up seq anno feature ids: VSP_042787
up seq anno feature ids: VSP_042788
up seq anno feature ids: VSP_042789

9606:CHPF2
gene id: 9606:CHPF2
uniprot id: B3KPG6
uniprot id: G5E9W2
uniprot id: Q9P2E5
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Chondroitin sulfate glucuronyltransferase
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In isoform 2.
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000189563
up seq anno feature ids: VSP_012724
up seq anno feature ids: VSP_012725

9606:OR2T2
gene id: 9606:OR2T2
uniprot id: Q6IF00
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 2T2
up seq anno feature ids: PRO_0000150497

9606:IL1RAPL1
gene id: 9606:IL1RAPL1
uniprot id: Q9NZN1
uniprot id: X5DNQ7
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Essential for interaction with PTPRD
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Ig-like
up seq anno comments: Ig-like C2-type 1
up seq anno comments: Ig-like C2-type 2
up seq anno comments: Ig-like C2-type 3
up seq anno comments: Interaction with NCS1
up seq anno comments: Interleukin-1 receptor accessory protein-like 1
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: TIR
up seq anno feature ids: PRO_0000015454
up seq anno feature ids: PRO_5004954498
up seq anno feature ids: VAR_062263
up seq anno feature ids: VAR_062264
up seq anno feature ids: VAR_062265
up seq anno feature ids: VAR_062266

9606:SLX1B
gene id: 9606:SLX1B
uniprot id: Q9BQ83
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: Abolishes endonucleolytic activity.
up seq anno comments: Disordered
up seq anno comments: GIY-YIG
up seq anno comments: In isoform 2.
up seq anno comments: Pro residues
up seq anno comments: SLX1-type
up seq anno comments: Structure-specific endonuclease subunit SLX1
up seq anno feature ids: PRO_0000332120
up seq anno feature ids: VSP_033331

9606:PLA2G4C
gene id: 9606:PLA2G4C
uniprot id: Q9UP65
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Abolishes enzyme activity. Reduces lipid droplet formation; when associated with A-54; A-385 and A-402.
up seq anno comments: Abolishes enzyme activity. Reduces lipid droplet formation; when associated with A-54; A-82 and A-385.
up seq anno comments: Abolishes enzyme activity. Reduces lipid droplet formation; when associated with A-54; A-82 and A-402.
up seq anno comments: Abolishes enzyme activity. Reduces lipid droplet formation; when associated with A-82; A-385 and A-402.
up seq anno comments: Cysteine methyl ester
up seq anno comments: Cytosolic phospholipase A2 gamma
up seq anno comments: Has no effect on membrane localization. Decreases the affinity for 1-O-hexadecyl-sn-glycero-3-phosphocholine acyl acceptor in transacylation reaction.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of prenylation.
up seq anno comments: Nucleophile
up seq anno comments: PLA2c
up seq anno comments: Phosphoserine
up seq anno comments: Proton acceptor
up seq anno comments: Removed in mature form
up seq anno comments: Required for lipid droplet localization
up seq anno comments: S-farnesyl cysteine
up seq anno feature ids: PRO_0000022995
up seq anno feature ids: PRO_0000022996
up seq anno feature ids: VAR_018420
up seq anno feature ids: VAR_018421
up seq anno feature ids: VAR_018422
up seq anno feature ids: VAR_018423
up seq anno feature ids: VAR_018761
up seq anno feature ids: VAR_018762
up seq anno feature ids: VAR_018763
up seq anno feature ids: VAR_018764
up seq anno feature ids: VAR_018765
up seq anno feature ids: VAR_018766
up seq anno feature ids: VAR_018767
up seq anno feature ids: VAR_018768
up seq anno feature ids: VSP_045849
up seq anno feature ids: VSP_045850

9606:MELTF
gene id: 9606:MELTF
uniprot id: P08582
uniprot id: Q53XS6
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Antigenic epitope
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: GPI-anchor amidated cysteine
up seq anno comments: In isoform 2.
up seq anno comments: Melanotransferrin
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine; by FAM20C
up seq anno comments: Removed in mature form
up seq anno comments: Transferrin-like
up seq anno comments: Transferrin-like 1
up seq anno comments: Transferrin-like 2
up seq anno feature ids: PRO_0000035739
up seq anno feature ids: PRO_0000035740
up seq anno feature ids: PRO_5014309517
up seq anno feature ids: VAR_020413
up seq anno feature ids: VAR_057304
up seq anno feature ids: VSP_006557
up seq anno feature ids: VSP_006558

9606:COX3
gene id: 9606:COX3
uniprot id: P00414
uniprot id: Q7GIM7
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytochrome c oxidase subunit 3
up seq anno comments: Found in two patients with a diagnosis of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome; unknown pathological significance.
up seq anno comments: Helical
up seq anno comments: Helical; Name=I
up seq anno comments: Helical; Name=II
up seq anno comments: Helical; Name=III
up seq anno comments: Helical; Name=IV
up seq anno comments: Helical; Name=V
up seq anno comments: Helical; Name=VI
up seq anno comments: Helical; Name=VII
up seq anno comments: Heme-copper oxidase subunit III family profile
up seq anno comments: In LHON; possible rare primary mutation.
up seq anno comments: In LHON; secondary mutation; does not seem to directly cause the disease.
up seq anno comments: In MT-C4D; with RM-MT.
up seq anno comments: Mitochondrial intermembrane
up seq anno comments: Mitochondrial matrix
up seq anno feature ids: PRO_0000183793
up seq anno feature ids: VAR_002167
up seq anno feature ids: VAR_002168
up seq anno feature ids: VAR_002169
up seq anno feature ids: VAR_008573
up seq anno feature ids: VAR_008574
up seq anno feature ids: VAR_008575
up seq anno feature ids: VAR_008576
up seq anno feature ids: VAR_008577
up seq anno feature ids: VAR_033057

9606:MECP2
gene id: 9606:MECP2
uniprot id: A0A140VKC4
uniprot id: D3YJ43
uniprot id: P51608
uniprot id: Q59FJ6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: A.T hook 1
up seq anno comments: A.T hook 2
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In ENS-MECP2; uncertain pathological significance.
up seq anno comments: In MRXS13.
up seq anno comments: In MRXS13; impairs interaction with ATRX and abolishes ATRX recruitment to heterochromatin.
up seq anno comments: In MRXS13; unknown pathological significance.
up seq anno comments: In RTT.
up seq anno comments: In RTT; abolishes interaction with TBL1X and TBL1XR1.
up seq anno comments: In RTT; abolishes interaction with TBL1X.
up seq anno comments: In RTT; also in a patient with Angelman syndrome and some typical RTT features.
up seq anno comments: In RTT; impairs interaction with ATRX and abolishes ATRX recruitment to heterochromatin.
up seq anno comments: In RTT; unknown pathological significance.
up seq anno comments: In isoform B.
up seq anno comments: Interaction with NCOR2
up seq anno comments: Interaction with TBL1XR1
up seq anno comments: MBD
up seq anno comments: Methyl-CpG-binding protein 2
up seq anno comments: N6-acetyllysine
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Pro residues
up seq anno comments: Probable disease-associated variant found in a patient with drug-resistant epilepsy with intellectual disability, parkinsonism and other neurologic symptoms.
up seq anno feature ids: PRO_0000096345
up seq anno feature ids: VAR_010272
up seq anno feature ids: VAR_010273
up seq anno feature ids: VAR_010274
up seq anno feature ids: VAR_010275
up seq anno feature ids: VAR_010276
up seq anno feature ids: VAR_010277
up seq anno feature ids: VAR_010278
up seq anno feature ids: VAR_010279
up seq anno feature ids: VAR_010280
up seq anno feature ids: VAR_010281
up seq anno feature ids: VAR_010282
up seq anno feature ids: VAR_010283
up seq anno feature ids: VAR_017462
up seq anno feature ids: VAR_017463
up seq anno feature ids: VAR_017581
up seq anno feature ids: VAR_018180
up seq anno feature ids: VAR_018181
up seq anno feature ids: VAR_018182
up seq anno feature ids: VAR_018183

9606:SSH3
gene id: 9606:SSH3
uniprot id: Q8TE77
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: DEK-C
up seq anno comments: Disordered
up seq anno comments: In isoform 2 and isoform 5.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphocysteine intermediate
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Protein phosphatase Slingshot homolog 3
up seq anno comments: Removed
up seq anno comments: Tyrosine-protein phosphatase
up seq anno feature ids: PRO_0000094845
up seq anno feature ids: VAR_057132
up seq anno feature ids: VAR_057133
up seq anno feature ids: VSP_016330
up seq anno feature ids: VSP_016331
up seq anno feature ids: VSP_016332
up seq anno feature ids: VSP_016333
up seq anno feature ids: VSP_016334
up seq anno feature ids: VSP_016335
up seq anno feature ids: VSP_016336

9606:CHD5
gene id: 9606:CHD5
uniprot id: Q8TDI0
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Abolishes methylation by N6AMT1.
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Chromo 1
up seq anno comments: Chromo 2
up seq anno comments: Chromodomain-helicase-DNA-binding protein 5
up seq anno comments: DEAH box
up seq anno comments: Disordered
up seq anno comments: Helicase ATP-binding
up seq anno comments: Helicase C-terminal
up seq anno comments: Histone-binding
up seq anno comments: In PMNDS.
up seq anno comments: In PMNDS; unknown pathological significance.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: N5-methylglutamine
up seq anno comments: PHD-type 1
up seq anno comments: PHD-type 2
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Reduced affinity for trimethylated histone H3K27me3.
up seq anno feature ids: PRO_0000080230
up seq anno feature ids: VAR_035475
up seq anno feature ids: VAR_035476
up seq anno feature ids: VAR_035477
up seq anno feature ids: VAR_048729
up seq anno feature ids: VAR_048730
up seq anno feature ids: VAR_087312
up seq anno feature ids: VAR_087313
up seq anno feature ids: VAR_087314
up seq anno feature ids: VAR_087315
up seq anno feature ids: VAR_087316
up seq anno feature ids: VAR_087317
up seq anno feature ids: VAR_087318
up seq anno feature ids: VAR_087319
up seq anno feature ids: VAR_087320
up seq anno feature ids: VAR_087321
up seq anno feature ids: VAR_087322
up seq anno feature ids: VAR_087323
up seq anno feature ids: VAR_087324
up seq anno feature ids: VAR_087325

9606:WFDC5
gene id: 9606:WFDC5
uniprot id: Q8TCV5
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: WAP 1
up seq anno comments: WAP 2
up seq anno comments: WAP four-disulfide core domain protein 5
up seq anno feature ids: PRO_0000041382
up seq anno feature ids: VAR_057474
up seq anno feature ids: VSP_006756

9606:OR51I2
gene id: 9606:OR51I2
uniprot id: A0A126GVE9
uniprot id: Q9H344
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 51I2
up seq anno feature ids: PRO_0000150758
up seq anno feature ids: VAR_024143
up seq anno feature ids: VAR_034321
up seq anno feature ids: VAR_034322
up seq anno feature ids: VAR_034323

9606:FMO3
gene id: 9606:FMO3
uniprot id: A0A024R8Z4
uniprot id: B7Z3M2
uniprot id: B7Z543
uniprot id: P31513
uniprot id: Q53FW5
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
up seq anno comments: 16% reduction in catalytic efficiency toward trimethylamine and 40% increase toward benzydamine and methyl p-tolyl sulfide.
up seq anno comments: 2-fold decrease in affinity for trimethylamine; 3-fold decrease in catalytic efficiency toward methimazole; 3-fold increase in catalytic efficiency toward sulindac; 30% increase in catalytic efficiency toward ethylenethiourea.
up seq anno comments: 35%, 45% and 71% increase in catalytic efficiency toward trimethylamine, benzydamine and methyl p-tolyl sulfide, respectively.
up seq anno comments: 65% increase in catalytic efficiency toward trimethylamine and 60% reduction toward benzydamine and methyl p-tolyl sulfide.
up seq anno comments: Flavin-containing monooxygenase 3
up seq anno comments: Helical
up seq anno comments: In TMAU.
up seq anno comments: In TMAU; 90% reduction in catalytic efficiency toward trimethylamine and benzydamine; 34% reduction in catalytic efficiency toward methyl p-tolyl sulfide; nearly no effect on affinity for these substrates.
up seq anno comments: In TMAU; loss of activity; affects FAD binding.
up seq anno comments: In TMAU; more than 90% reduction in catalytic efficiency toward trimethylamine, benzydamine and methyl p-tolyl sulfide.
up seq anno comments: In TMAU; profoundly alters enzyme function.
up seq anno comments: Loss of activity.
up seq anno comments: Modest increase in catalytic efficiency toward trimethylamine, methimazole, ethylenethiourea and sulindac.
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000147654
up seq anno feature ids: VAR_002423
up seq anno feature ids: VAR_002424
up seq anno feature ids: VAR_002425
up seq anno feature ids: VAR_002426
up seq anno feature ids: VAR_002427
up seq anno feature ids: VAR_008145
up seq anno feature ids: VAR_008146
up seq anno feature ids: VAR_008147
up seq anno feature ids: VAR_014845
up seq anno feature ids: VAR_014846
up seq anno feature ids: VAR_015364
up seq anno feature ids: VAR_015365
up seq anno feature ids: VAR_015366
up seq anno feature ids: VAR_018345
up seq anno feature ids: VAR_018346
up seq anno feature ids: VAR_037306
up seq anno feature ids: VAR_037307
up seq anno feature ids: VAR_037308
up seq anno feature ids: VAR_042705
up seq anno feature ids: VAR_042706
up seq anno feature ids: VAR_042707

9606:SNW1
gene id: 9606:SNW1
uniprot id: G3V3A4
uniprot id: Q13573
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes interaction with PPIL1.
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Interaction with PPIL1
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno comments: SKI-interacting protein SKIP SNW
up seq anno comments: SNW
up seq anno comments: SNW domain-containing protein 1
up seq anno feature ids: PRO_0000084827

9606:OTOR
gene id: 9606:OTOR
uniprot id: Q9NRC9
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Otoraplin
up seq anno comments: SH3
up seq anno feature ids: PRO_0000019033
up seq anno feature ids: VAR_024537

9606:CAMSAP1
gene id: 9606:CAMSAP1
uniprot id: A0A384NY94
uniprot id: Q5T5Y3
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: CKK
up seq anno comments: Calmodulin-regulated spectrin-associated protein 1
up seq anno comments: Calponin-homology (CH)
up seq anno comments: Disordered
up seq anno comments: In CDCBM12.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of interaction with SPTBN1.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: Sufficient for interaction with SPTBN1
up seq anno comments: Sufficient for interaction with calmodulin
up seq anno feature ids: PRO_0000316828
up seq anno feature ids: VAR_038398
up seq anno feature ids: VAR_088401
up seq anno feature ids: VAR_088402
up seq anno feature ids: VAR_088403
up seq anno feature ids: VAR_088404
up seq anno feature ids: VSP_030800
up seq anno feature ids: VSP_030801

9606:SYT5
gene id: 9606:SYT5
uniprot id: O00445
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: C2 1
up seq anno comments: C2 2
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Does not affect Ca(2+) affinity as measured by isothermal titration calorimetry of the mutant protein.
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Pro residues
up seq anno comments: Synaptotagmin-5
up seq anno comments: Vesicular
up seq anno feature ids: PRO_0000183951
up seq anno feature ids: VAR_034528
up seq anno feature ids: VAR_052240
up seq anno feature ids: VSP_057177
up seq anno feature ids: VSP_057178

9606:ATE1
gene id: 9606:ATE1
uniprot id: A0A8I5KTH0
uniprot id: A0A8I5KZ24
uniprot id: B3KWA3
uniprot id: B4DK25
uniprot id: B4E107
uniprot id: F5GXE4
uniprot id: F8WAC9
uniprot id: O95260
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Arginyl-tRNA--protein transferase 1
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform ATE1-2.
up seq anno comments: N-end aminoacyl transferase N-terminal
up seq anno comments: N-end rule aminoacyl transferase C-terminal
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000195088
up seq anno feature ids: VSP_000336

9606:KLHDC4
gene id: 9606:KLHDC4
uniprot id: Q8TBB5
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Kelch 1
up seq anno comments: Kelch 2
up seq anno comments: Kelch 3
up seq anno comments: Kelch 4
up seq anno comments: Kelch 5
up seq anno comments: Kelch 6
up seq anno comments: Kelch domain-containing protein 4
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000228998
up seq anno feature ids: VAR_033986
up seq anno feature ids: VAR_033987
up seq anno feature ids: VAR_050054
up seq anno feature ids: VAR_061340
up seq anno feature ids: VSP_017728
up seq anno feature ids: VSP_017729

9606:CLCA1
gene id: 9606:CLCA1
uniprot id: A8K7I4
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes proteolytic cleavage.
up seq anno comments: Calcium-activated chloride channel regulator 1
up seq anno comments: Cleavage; by autolysis
up seq anno comments: Metalloprotease domain
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Reduces proteolytic cleavage.
up seq anno comments: VWFA
up seq anno feature ids: PRO_0000333690
up seq anno feature ids: VAR_043146
up seq anno feature ids: VAR_043147
up seq anno feature ids: VAR_054654
up seq anno feature ids: VAR_054655
up seq anno feature ids: VAR_054656
up seq anno feature ids: VAR_054657
up seq anno feature ids: VAR_054658
up seq anno feature ids: VAR_054659

9606:ARL5B
gene id: 9606:ARL5B
uniprot id: Q96KC2
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Lipid Binding
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: ADP-ribosylation factor-like protein 5B
up seq anno comments: N-myristoyl glycine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000207470

9606:FAM47C
gene id: 9606:FAM47C
uniprot id: Q5HY64
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Putative protein FAM47C
up seq anno feature ids: PRO_0000349311
up seq anno feature ids: VAR_046358

9606:MSGN1
gene id: 9606:MSGN1
uniprot id: A6NI15
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: Mesogenin-1
up seq anno comments: Polar residues
up seq anno comments: bHLH
up seq anno feature ids: PRO_0000330028
up seq anno feature ids: VAR_061259
up seq anno feature ids: VAR_061260

9606:RASD1
gene id: 9606:RASD1
uniprot id: Q9Y272
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Propeptide
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Cysteine methyl ester
up seq anno comments: Dexamethasone-induced Ras-related protein 1
up seq anno comments: Effector region
up seq anno comments: In isoform 2.
up seq anno comments: Removed in mature form
up seq anno comments: S-farnesyl cysteine
up seq anno comments: S-nitrosocysteine
up seq anno comments: Suppresses NO-induced activation.
up seq anno feature ids: PRO_0000082717
up seq anno feature ids: PRO_0000281372
up seq anno feature ids: VSP_046431
up seq anno feature ids: VSP_046432

9606:NPNT
gene id: 9606:NPNT
uniprot id: Q6UXI9
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: EGF-like 1
up seq anno comments: EGF-like 2; calcium-binding
up seq anno comments: EGF-like 3
up seq anno comments: EGF-like 4; calcium-binding
up seq anno comments: EGF-like 5; calcium-binding
up seq anno comments: In isoform 2, isoform 4 and isoform 5.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: In isoform 6.
up seq anno comments: Integrin interaction
up seq anno comments: MAM
up seq anno comments: Nephronectin
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000295684
up seq anno feature ids: VAR_033314
up seq anno feature ids: VAR_033315
up seq anno feature ids: VAR_033316
up seq anno feature ids: VAR_033317
up seq anno feature ids: VSP_026987
up seq anno feature ids: VSP_026988
up seq anno feature ids: VSP_045813
up seq anno feature ids: VSP_046131

9606:IL36B
gene id: 9606:IL36B
uniprot id: Q9NZH7
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Propeptide
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: Interleukin-36 beta
up seq anno feature ids: PRO_0000153646
up seq anno feature ids: PRO_0000430547
up seq anno feature ids: VAR_025057
up seq anno feature ids: VSP_002657

9606:HK2
gene id: 9606:HK2
uniprot id: P52789
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Decreased hexokinase activity.
up seq anno comments: Does not affect activity.
up seq anno comments: Hexokinase 1
up seq anno comments: Hexokinase 2
up seq anno comments: Hexokinase large subdomain 1
up seq anno comments: Hexokinase large subdomain 2
up seq anno comments: Hexokinase small subdomain 1
up seq anno comments: Hexokinase small subdomain 2
up seq anno comments: Hexokinase-2
up seq anno comments: Induces a rapid dissociation of D-glucose.
up seq anno comments: Mitochondrial-binding peptide (MBP)
up seq anno comments: N-acetylmethionine
up seq anno feature ids: PRO_0000197587
up seq anno feature ids: VAR_003691
up seq anno feature ids: VAR_010577
up seq anno feature ids: VAR_010578
up seq anno feature ids: VAR_010579
up seq anno feature ids: VAR_010580
up seq anno feature ids: VAR_010581
up seq anno feature ids: VAR_010582
up seq anno feature ids: VAR_020504
up seq anno feature ids: VAR_020505
up seq anno feature ids: VAR_020506
up seq anno feature ids: VAR_020507
up seq anno feature ids: VAR_020508
up seq anno feature ids: VAR_020509

9606:PRR20A
gene id: 9606:PRR20A
uniprot id: P86478
uniprot id: P86479
uniprot id: P86480
uniprot id: P86481
uniprot id: P86496
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Region
up seq anno comments: Disordered
up seq anno comments: Proline-rich protein 20A
up seq anno comments: Proline-rich protein 20B
up seq anno comments: Proline-rich protein 20C
up seq anno comments: Proline-rich protein 20D
up seq anno comments: Proline-rich protein 20E
up seq anno feature ids: PRO_0000336092
up seq anno feature ids: PRO_0000393890
up seq anno feature ids: PRO_0000393891
up seq anno feature ids: PRO_0000393892
up seq anno feature ids: PRO_0000393893

9606:COL25A1
gene id: 9606:COL25A1
uniprot id: A0A2R8Y760
uniprot id: A8MWQ5
uniprot id: Q9BXS0
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Abolishes binding to amyloid-beta peptide.
up seq anno comments: Basic and acidic residues
up seq anno comments: Cleavage; by furin
up seq anno comments: Collagen alpha-1(XXV) chain
up seq anno comments: Collagen-like 1
up seq anno comments: Collagen-like 2
up seq anno comments: Collagen-like 3
up seq anno comments: Collagen-like 4
up seq anno comments: Collagen-like 5
up seq anno comments: Collagen-like 6
up seq anno comments: Collagen-like 7
up seq anno comments: Collagen-like Alzheimer amyloid plaque component
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In CFEOM5; causes loss of stability; causes incorrect folding.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Interaction with amyloid-beta peptide
up seq anno comments: Not secreted.
up seq anno comments: Pro residues
up seq anno comments: Pyrrolidone carboxylic acid (Glu)
up seq anno comments: Reduces binding to amyloid-beta peptide.
up seq anno feature ids: PRO_0000259611
up seq anno feature ids: PRO_0000259612
up seq anno feature ids: VAR_073325
up seq anno feature ids: VSP_052197
up seq anno feature ids: VSP_052198
up seq anno feature ids: VSP_052199
up seq anno feature ids: VSP_052200

9606:CERS2
gene id: 9606:CERS2
uniprot id: Q96G23
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Abolished inhibition by sphingosine-1-phosphate; when associated with A-230.
up seq anno comments: Abolished inhibition by sphingosine-1-phosphate; when associated with A-325.
up seq anno comments: Ceramide synthase 2
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: Homeobox-like
up seq anno comments: Last loop motif
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Strongly decreased phosphorylation leading to reduced ceramide synthase activity.
up seq anno comments: TLC
up seq anno feature ids: PRO_0000185509
up seq anno feature ids: VAR_052325

9606:ADGRE2
gene id: 9606:ADGRE2
uniprot id: A0JNV7
uniprot id: Q9UHX3
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Abolishes cleavage.
up seq anno comments: Adhesion G protein-coupled receptor E2
up seq anno comments: Cleavage; by autolysis
up seq anno comments: Cytoplasmic
up seq anno comments: EGF-like
up seq anno comments: EGF-like 1
up seq anno comments: EGF-like 2; calcium-binding
up seq anno comments: EGF-like 3; calcium-binding
up seq anno comments: EGF-like 4; calcium-binding
up seq anno comments: EGF-like 5; calcium-binding
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 2 profile 2
up seq anno comments: GPS
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: In VBU; affects the regulation of mast cells degranulation; results in increased vibration-induced mast cells degranulation; no effect on localization to plasma membrane.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000012875
up seq anno feature ids: PRO_5014296495
up seq anno feature ids: VAR_026719
up seq anno feature ids: VAR_026720
up seq anno feature ids: VAR_026721
up seq anno feature ids: VAR_061229
up seq anno feature ids: VAR_061230
up seq anno feature ids: VAR_078578
up seq anno feature ids: VSP_041364
up seq anno feature ids: VSP_041365
up seq anno feature ids: VSP_041366
up seq anno feature ids: VSP_041367
up seq anno feature ids: VSP_047535

9606:SCGB1A1
gene id: 9606:SCGB1A1
uniprot id: A0A0S2Z4R6
uniprot id: P11684
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Helix
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Interchain (with C-24)
up seq anno comments: Interchain (with C-90)
up seq anno comments: Uteroglobin
up seq anno feature ids: PRO_0000036365
up seq anno feature ids: PRO_5006608251
up seq anno feature ids: VAR_012045
up seq anno feature ids: VAR_012046

9606:P4HA1
gene id: 9606:P4HA1
uniprot id: P13674
uniprot id: Q5VSQ6
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Fe2OG dioxygenase
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Prolyl 4-hydroxylase subunit alpha-1
up seq anno comments: Strongly reduced affinity for peptide substrate.
up seq anno comments: TPR
up seq anno comments: procollagen-proline 4-dioxygenase
up seq anno feature ids: PRO_0000022723
up seq anno feature ids: PRO_5014310169
up seq anno feature ids: VSP_004504
up seq anno feature ids: VSP_044578

9606:ZFYVE16
gene id: 9606:ZFYVE16
uniprot id: Q7Z3T8
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Abolishes localization to endosomes and association with PI3P.
up seq anno comments: Disordered
up seq anno comments: FYVE-type
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Zinc finger FYVE domain-containing protein 16
up seq anno feature ids: PRO_0000098716
up seq anno feature ids: VAR_019489
up seq anno feature ids: VAR_019490
up seq anno feature ids: VAR_019491
up seq anno feature ids: VAR_057492
up seq anno feature ids: VAR_057493
up seq anno feature ids: VAR_069368
up seq anno feature ids: VSP_011019
up seq anno feature ids: VSP_011020

9606:RIMKLA
gene id: 9606:RIMKLA
uniprot id: Q8IXN7
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno comments: ATP-grasp
up seq anno comments: Disordered
up seq anno comments: N-acetylaspartylglutamate synthase A
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000282568

9606:C1orf94
gene id: 9606:C1orf94
uniprot id: Q6P1W5
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: Uncharacterized protein C1orf94
up seq anno feature ids: PRO_0000280097
up seq anno feature ids: VAR_031051
up seq anno feature ids: VAR_031052
up seq anno feature ids: VAR_050702
up seq anno feature ids: VSP_042032

9606:DHPS
gene id: 9606:DHPS
uniprot id: P49366
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Deoxyhypusine synthase
up seq anno comments: In NEDSSWI; decreased deoxyhypusine synthase activity.
up seq anno comments: In NEDSSWI; loss of deoxyhypusine synthase activity.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform Short.
up seq anno comments: Loss of covalent intermediate formation and deoxyhypusine synthesis.
up seq anno comments: Nucleophile
up seq anno comments: Phosphoserine
up seq anno comments: Reduces covalent intermediate formation and deoxyhypusine synthesis by 99.5%. Retains low spermidine cleavage activity.
up seq anno comments: Reduces spermidine binding by 98%. Loss of covalent intermediate formation and deoxyhypusine synthesis.
up seq anno comments: Reduces spermidine binding by 98%. Strongly reduced NAD binding. Strongly reduced formation of covalent intermediate.
up seq anno comments: Reduces spermidine binding by 98%. Strongly reduced formation of covalent intermediate.
up seq anno comments: Strongly reduced NAD and spermidine binding. Reduced activity.
up seq anno comments: Strongly reduced NAD binding.
up seq anno comments: Strongly reduced NAD binding. No effect on enzyme activity.
up seq anno comments: Strongly reduced NAD binding. Strongly reduced activity.
up seq anno comments: Strongly reduced NAD binding. Strongly reduced formation of covalent intermediate.
up seq anno comments: Strongly reduced spermidine binding. Reduced activity.
up seq anno feature ids: PRO_0000134469
up seq anno feature ids: VAR_043005
up seq anno feature ids: VAR_082649
up seq anno feature ids: VAR_082650
up seq anno feature ids: VSP_001351
up seq anno feature ids: VSP_047564

9606:OR3A3
gene id: 9606:OR3A3
uniprot id: A0A126GWB3
uniprot id: P47888
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 3A3
up seq anno feature ids: PRO_0000150520
up seq anno feature ids: VAR_054961
up seq anno feature ids: VAR_054962
up seq anno feature ids: VAR_054963
up seq anno feature ids: VAR_054964

9606:PRPF19
gene id: 9606:PRPF19
uniprot id: Q9UMS4
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Loss of interaction with the RPA complex and loss of recruitment to sites of DNA damage.
up seq anno comments: May mediate interaction with PSMC5
up seq anno comments: N-acetylserine
up seq anno comments: N6-acetyllysine
up seq anno comments: Pre-mRNA-processing factor 19
up seq anno comments: Removed
up seq anno comments: U-box
up seq anno comments: WD 1
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno comments: WD 7
up seq anno feature ids: PRO_0000051145

9606:AUP1
gene id: 9606:AUP1
uniprot id: Q9Y679
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: INTRAMEM
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: INTRAMEM
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno comments: Abolishes interaction with UBE2G2.
up seq anno comments: Abolishes lipid droplet localization.
up seq anno comments: CUE
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Disrupts topology with the N-terminus in the lumen instead of the cytoplasm. Abolishes lipid droplet localization and lipid droplet clustering.
up seq anno comments: Does not affect lipid droplet localization.
up seq anno comments: In isoform 2.
up seq anno comments: Lipid droplet-regulating VLDL assembly factor AUP1
up seq anno comments: N-acetylmethionine
up seq anno comments: No effect on interaction with UBE2G2.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Reduced formation of lipid droplets.
up seq anno comments: Reduced interaction with ER quality control machinery and misfolded substrates; when associated with 306-K--A-308.
up seq anno comments: Reduced interaction with ER quality control machinery and misfolded substrates; when associated with 333-L-L-334 Del.
up seq anno comments: Reduced lipid droplet clustering.
up seq anno comments: Reduced lipid droplet clustering; when associated with 319-V-E-320 and 333-E-D-334.
up seq anno comments: Reduced lipid droplet clustering; when associated with R-316 and 319-V-E-320.
up seq anno comments: Reduced lipid droplet clustering; when associated with R-316 and 333-E-D-334.
up seq anno comments: Significantly reduced interaction with UBE2G2.
up seq anno feature ids: PRO_0000020765
up seq anno feature ids: VSP_059683
up seq anno feature ids: VSP_059684

9606:PRAMEF14
gene id: 9606:PRAMEF14
uniprot id: Q5SWL7
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno labels: Chain
up seq anno labels: Repeat
up seq anno comments: LRR 1
up seq anno comments: LRR 2
up seq anno comments: LRR 3
up seq anno comments: LRR 4
up seq anno comments: LRR 5
up seq anno comments: PRAME family member 14
up seq anno feature ids: PRO_0000290166

9606:UQCRFS1
gene id: 9606:UQCRFS1
uniprot id: P47985
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytochrome b-c1 complex subunit 9
up seq anno comments: Cytochrome b-c1 complex subunit Rieske, mitochondrial
up seq anno comments: Helical
up seq anno comments: In MC3DN10; decreased protein abundance.
up seq anno comments: In MC3DN10; loss of localization to mitochondrial inner membrane; the mutant protein is distributed over the entire cytosol and in the nucleus.
up seq anno comments: Mitochondrial intermembrane
up seq anno comments: Mitochondrial matrix
up seq anno comments: Rieske
up seq anno feature ids: PRO_0000030664
up seq anno feature ids: PRO_0000307241
up seq anno feature ids: VAR_051863
up seq anno feature ids: VAR_083879
up seq anno feature ids: VAR_083880

9606:POMT1
gene id: 9606:POMT1
uniprot id: A0A140VKE0
uniprot id: Q9Y6A1
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: In MDDGA1 and MDDGB1; likely benign variant.
up seq anno comments: In MDDGA1.
up seq anno comments: In MDDGA1; associated with the loss of function of alpha dystroglycan as a matrix receptor.
up seq anno comments: In MDDGA1; severe Walker-Warburg syndrome.
up seq anno comments: In MDDGB1.
up seq anno comments: In MDDGC1; a common founder mutation.
up seq anno comments: In isoform 2, isoform 3 and isoform 4.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: MIR
up seq anno comments: MIR 1
up seq anno comments: MIR 2
up seq anno comments: MIR 3
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Protein O-mannosyl-transferase 1
up seq anno comments: Requires 2 nucleotide substitutions.
up seq anno feature ids: PRO_0000121484
up seq anno feature ids: VAR_015734
up seq anno feature ids: VAR_015735
up seq anno feature ids: VAR_022661
up seq anno feature ids: VAR_022662
up seq anno feature ids: VAR_026697
up seq anno feature ids: VAR_034389
up seq anno feature ids: VAR_034390
up seq anno feature ids: VAR_034391
up seq anno feature ids: VAR_034392
up seq anno feature ids: VAR_065027
up seq anno feature ids: VAR_065028
up seq anno feature ids: VAR_065029
up seq anno feature ids: VAR_065030
up seq anno feature ids: VAR_065031
up seq anno feature ids: VAR_065032
up seq anno feature ids: VAR_065033
up seq anno feature ids: VAR_065034
up seq anno feature ids: VAR_065035
up seq anno feature ids: VAR_065036
up seq anno feature ids: VSP_007590
up seq anno feature ids: VSP_007591
up seq anno feature ids: VSP_041024

9606:MPZL2
gene id: 9606:MPZL2
uniprot id: O60487
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Found as a heterozygous variant in a patient with non-syndromic hearing impairment; unknown pathological significance.
up seq anno comments: Helical
up seq anno comments: Ig-like V-type
up seq anno comments: In DFNB111.
up seq anno comments: Myelin protein zero-like protein 2
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000014756
up seq anno feature ids: VAR_081571
up seq anno feature ids: VAR_081572
up seq anno feature ids: VAR_081573

9606:TLE4
gene id: 9606:TLE4
uniprot id: Q04727
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: CcN domain
up seq anno comments: Disordered
up seq anno comments: GP domain
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Q domain
up seq anno comments: SP domain
up seq anno comments: Transducin-like enhancer protein 4
up seq anno comments: WD 1
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno comments: WD 7
up seq anno feature ids: PRO_0000051283
up seq anno feature ids: VSP_030497
up seq anno feature ids: VSP_030498
up seq anno feature ids: VSP_055169

9606:TRAF2
gene id: 9606:TRAF2
uniprot id: Q12933
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Abolishes 'Lys-63'-linked polyubiquitination.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Important for interaction with BIRC2 and BIRC3
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Loss of phosphorylation site. Abolishes activation of NF-kappa-B.
up seq anno comments: MATH
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by PKC
up seq anno comments: RING-type
up seq anno comments: Reduces global phosphorylation. Partial reduction of TNF-dependent activation of NF-kappa-B and activation of JNK.
up seq anno comments: Removed
up seq anno comments: Slight increase of TNF-dependent activation of NF-kappa-B and activation of JNK.
up seq anno comments: Strongly reduced interaction with BIRC3.
up seq anno comments: TNF receptor-associated factor 2
up seq anno comments: TRAF-type 1
up seq anno comments: TRAF-type 2
up seq anno feature ids: PRO_0000056399
up seq anno feature ids: VSP_007401
up seq anno feature ids: VSP_039687
up seq anno feature ids: VSP_039688

9606:DUSP16
gene id: 9606:DUSP16
uniprot id: Q9BY84
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: (Microbial infection) N6-acetyllysine; by EIS
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Dual specificity protein phosphatase 16
up seq anno comments: In isoform 2.
up seq anno comments: Phosphocysteine intermediate
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by MAPK1
up seq anno comments: Polar residues
up seq anno comments: Rhodanese
up seq anno comments: Tyrosine-protein phosphatase
up seq anno feature ids: PRO_0000094826
up seq anno feature ids: VAR_051753
up seq anno feature ids: VAR_051754
up seq anno feature ids: VSP_056981
up seq anno feature ids: VSP_056982

9606:CCM2
gene id: 9606:CCM2
uniprot id: Q9BSQ5
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Cerebral cavernous malformations 2 protein
up seq anno comments: Disordered
up seq anno comments: Harmonin homology domain
up seq anno comments: In CCM2.
up seq anno comments: In CCM2; associated with H-215.
up seq anno comments: In CCM2; associated with Q-229.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: PID
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000089424
up seq anno feature ids: VAR_023575
up seq anno feature ids: VAR_023576
up seq anno feature ids: VAR_023577
up seq anno feature ids: VAR_050768
up seq anno feature ids: VAR_067352
up seq anno feature ids: VAR_067353
up seq anno feature ids: VSP_024402
up seq anno feature ids: VSP_046695
up seq anno feature ids: VSP_046696

9606:UBR3
gene id: 9606:UBR3
uniprot id: Q6ZT12
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: E3 ubiquitin-protein ligase UBR3
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: RING-type; degenerate
up seq anno comments: UBR-type
up seq anno feature ids: PRO_0000278184
up seq anno feature ids: VSP_023141
up seq anno feature ids: VSP_023142
up seq anno feature ids: VSP_030354
up seq anno feature ids: VSP_036405

9606:GSDMB
gene id: 9606:GSDMB
uniprot id: Q8TAX9
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Crosslink
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: (Microbial infection) Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Abolished ability to mediate pyroptosis.
up seq anno comments: Abolished cleavage by granzyme A (GZMA), preventing release of the N-terminal moiety (Gasdermin-B, N-terminal) and ability to induce pyroptosis in target cells of cytotoxic T-cells and natural killer (NK) cells.
up seq anno comments: Abolished ubiquitination by S.flexneri IpaH7.8.
up seq anno comments: Beta stranded
up seq anno comments: Cleavage; by CAPS3, CAPS6 and CAPS9
up seq anno comments: Cleavage; by ELANE
up seq anno comments: Cleavage; by granzyme A
up seq anno comments: Decreased ability to trigger pyroptosis.
up seq anno comments: Decreased ability to trigger pyroptosis. Abolished ubiquitination by S.flexneri IpaH7.8.
up seq anno comments: Decreased interaction with S.flexneri IpaH7.8.
up seq anno comments: Decreased interaction with S.flexneri IpaH7.8. Abolished ubiquitination by S.flexneri IpaH7.8; when associated with A-124.
up seq anno comments: Decreased interaction with S.flexneri IpaH7.8. Abolished ubiquitination by S.flexneri IpaH7.8; when associated with A-208.
up seq anno comments: Decreased interaction with S.flexneri IpaH7.8. Does not affect ability to trigger pyroptosis.
up seq anno comments: Disordered
up seq anno comments: Does not abolish ubiquitination by S.flexneri IpaH7.8; when associated with R-166.
up seq anno comments: Does not abolish ubiquitination by S.flexneri IpaH7.8; when associated with R-308.
up seq anno comments: Does not prevent cleavage by granzyme A (GZMA). Reduced ability to trigger pyroptosis.
up seq anno comments: Does not relieve autoinhibition.
up seq anno comments: Does not relieve autoinhibition. Relieves autoinhibition; when associated with 339-A--A-343.
up seq anno comments: Does not relieve autoinhibition. Relieves autoinhibition; when associated with D-399.
up seq anno comments: Gasdermin-B
up seq anno comments: Gasdermin-B, C-terminal
up seq anno comments: Gasdermin-B, N-terminal
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 1.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6 and isoform 1.
up seq anno comments: Reduced ability to trigger pyroptosis.
up seq anno comments: Reduced ability to trigger pyroptosis; when associated with A-26.
up seq anno comments: Reduced ability to trigger pyroptosis; when associated with A-51.
up seq anno comments: Relieves autoinhibition.
up seq anno comments: Slightly decreased formation of pore.
up seq anno comments: Triggers pyroptosis
up seq anno feature ids: PRO_0000329058
up seq anno feature ids: PRO_0000451672
up seq anno feature ids: PRO_0000451673
up seq anno feature ids: VAR_042632
up seq anno feature ids: VAR_042633
up seq anno feature ids: VAR_042634
up seq anno feature ids: VAR_042635
up seq anno feature ids: VAR_042636
up seq anno feature ids: VAR_042637
up seq anno feature ids: VSP_061486
up seq anno feature ids: VSP_061487

9606:SPAST
gene id: 9606:SPAST
uniprot id: E5KRP5
uniprot id: E5KRP6
uniprot id: Q9UBP0
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: INTRAMEM
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: INTRAMEM
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: AAA+ ATPase
up seq anno comments: Abolishes ATPase activity.
up seq anno comments: Abolishes localization to lipid droplets.
up seq anno comments: Abrogates ATP hydrolysis, abolishes microtubule severing, stabilizes the homohexameric form, and promotes microtubule binding and redistribution from the endosome to microtubules.
up seq anno comments: Abrogates ATPase activity and abolishes microtubule severing.
up seq anno comments: Abrogates binding to the tail of alpha-tubulin and beta-3-tubulin and abolishes microtubule severing.
up seq anno comments: Abrogates binding to the tail of alpha-tubulin and beta-3-tubulin, impairs ATPase activity and abolishes microtubule severing.
up seq anno comments: Acts as a disease modifier; patients carrying a mutated allele of spastin and L-44 on the other allele are affected by severe spastic paraplegia with an early age of onset; may decrease the activity of the alternative promoter which directs the synthesis of isoform 3 and isoform 4.
up seq anno comments: Acts as a disease modifier; patients carrying a mutated allele of spastin and Q-45 on the other allele are affected by severe spastic paraplegia with an early age of onset.
up seq anno comments: Cytoplasmic
up seq anno comments: Cytoplasmic and nuclear.
up seq anno comments: Disordered
up seq anno comments: Does not affect ATPase activity.
up seq anno comments: Does not affect localization to lipid droplets.
up seq anno comments: Exclusively cytoplasmic.
up seq anno comments: Helical
up seq anno comments: Impairs binding to CHMP1B.
up seq anno comments: Impairs binding to CHMP1B. Impairs midbody localization; when associated with D-120.
up seq anno comments: Impairs binding to CHMP1B. Impairs midbody localization; when associated with D-124.
up seq anno comments: In SPG4.
up seq anno comments: In SPG4; abrogates ATPase activity and promotes microtubule binding.
up seq anno comments: In SPG4; abrogates ATPase activity, promotes microtubule binding and the formation of thick microtubule bundles and impairs traffic from the ER to Golgi.
up seq anno comments: In SPG4; abrogates ATPase activity, promotes microtubule binding and the formation of thick microtubule bundles.
up seq anno comments: In SPG4; abrogates binding to the tail of beta-3-tubulin, abolishes microtubule severing and promotes the formation of thick microtubule bundles.
up seq anno comments: In SPG4; likely benign variant.
up seq anno comments: In SPG4; promotes microtubule binding and the formation of thick microtubule bundles.
up seq anno comments: In SPG4; promotes microtubule binding.
up seq anno comments: In SPG4; requires 2 nucleotide substitutions.
up seq anno comments: In SPG4; unknown pathological significance.
up seq anno comments: In SPG4; variant form with congenital arachnoid cysts.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: Loss of microtubule-binding.
up seq anno comments: MIT
up seq anno comments: Nuclear export signal
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine

9606:EIF4H
gene id: 9606:EIF4H
uniprot id: Q15056
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Eukaryotic translation initiation factor 4H
up seq anno comments: HHV-1 Vhs binding site
up seq anno comments: In isoform Short.
up seq anno comments: N-acetylalanine
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: RRM
up seq anno comments: Removed
up seq anno feature ids: PRO_0000081619
up seq anno feature ids: VSP_005799

9606:DOK1
gene id: 9606:DOK1
uniprot id: B3KP83
uniprot id: B4DJN1
uniprot id: Q14CB2
uniprot id: Q2TA81
uniprot id: Q99704
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: Docking protein 1
up seq anno comments: IRS-type PTB
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-acetylmethionine
up seq anno comments: No association with GAP; when associated with F-362.
up seq anno comments: No association with NCK. No association with GAP; when associated with F-398.
up seq anno comments: PH
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Phosphotyrosine; by INSR
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000187268
up seq anno feature ids: VSP_003852
up seq anno feature ids: VSP_003853
up seq anno feature ids: VSP_038224

9606:OR2L5
gene id: 9606:OR2L5
uniprot id: A0A126GWR8
uniprot id: Q8NG80
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 2L5
up seq anno feature ids: PRO_0000150488

9606:SUMF1
gene id: 9606:SUMF1
uniprot id: Q8NBK3
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: Formylglycine-generating enzyme
up seq anno comments: In MSD.
up seq anno comments: In MSD; almost abolished enzyme activity.
up seq anno comments: In MSD; decreases its specific enzyme activity to less than 3%; does not affect localization of the protein in the endoplasmic reticulum of MSD fibroblasts; protein stability is almost comparable to wild-type.
up seq anno comments: In MSD; loss of activity.
up seq anno comments: In MSD; loss of activity; decreases its specific enzyme activity to about 23%; does not affect localization of the protein in the endoplasmic reticulum of MSD fibroblasts; protein stability is decreased.
up seq anno comments: In MSD; loss of activity; decreases its specific enzyme activity to less than 1%; does not affect localization of the protein in the endoplasmic reticulum of MSD fibroblasts; protein stability is almost comparable to wild-type.
up seq anno comments: In MSD; loss of activity; decreases its specific enzyme activity to less than 1%; does not affect localization of the protein in the endoplasmic reticulum of MSD fibroblasts; protein stability is severely decreased.
up seq anno comments: In MSD; loss of enzyme activity.
up seq anno comments: In MSD; mild phenotype; reduced but not abolished activity.
up seq anno comments: In MSD; reduced but not abolished activity.
up seq anno comments: In MSD; retains some activity.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: Interaction with sulfatases
up seq anno comments: Loss of activity.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No effect.
up seq anno comments: Reduces activity 5-fold.
up seq anno comments: Reduces activity by 99%.
up seq anno feature ids: PRO_0000033456
up seq anno feature ids: VAR_016052
up seq anno feature ids: VAR_016053
up seq anno feature ids: VAR_016054
up seq anno feature ids: VAR_016055
up seq anno feature ids: VAR_016056
up seq anno feature ids: VAR_016057
up seq anno feature ids: VAR_016058
up seq anno feature ids: VAR_016059
up seq anno feature ids: VAR_016060
up seq anno feature ids: VAR_019050
up seq anno feature ids: VAR_019051
up seq anno feature ids: VAR_019052
up seq anno feature ids: VAR_019053
up seq anno feature ids: VAR_019054
up seq anno feature ids: VAR_042602
up seq anno feature ids: VAR_080468
up seq anno feature ids: VAR_080469
up seq anno feature ids: VAR_080470
up seq anno feature ids: VSP_007877
up seq anno feature ids: VSP_013185
up seq anno feature ids: VSP_045414
up seq anno feature ids: VSP_045415

9606:RAB36
gene id: 9606:RAB36
uniprot id: O95755
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Lipid Binding
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: Effector region
up seq anno comments: In isoform 2.
up seq anno comments: Ras-related protein Rab-36
up seq anno comments: S-geranylgeranyl cysteine
up seq anno feature ids: PRO_0000121248
up seq anno feature ids: VAR_024189
up seq anno feature ids: VAR_034433
up seq anno feature ids: VAR_051715
up seq anno feature ids: VSP_010143

9606:LRP1B
gene id: 9606:LRP1B
uniprot id: Q9NZR2
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Motif
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: EGF-like 1
up seq anno comments: EGF-like 10
up seq anno comments: EGF-like 11
up seq anno comments: EGF-like 12; calcium-binding
up seq anno comments: EGF-like 13
up seq anno comments: EGF-like 14
up seq anno comments: EGF-like 15
up seq anno comments: EGF-like 16
up seq anno comments: EGF-like 17
up seq anno comments: EGF-like 18
up seq anno comments: EGF-like 19
up seq anno comments: EGF-like 20
up seq anno comments: EGF-like 21
up seq anno comments: EGF-like 22
up seq anno comments: EGF-like 2; calcium-binding
up seq anno comments: EGF-like 3
up seq anno comments: EGF-like 4
up seq anno comments: EGF-like 5
up seq anno comments: EGF-like 6
up seq anno comments: EGF-like 7
up seq anno comments: EGF-like 8
up seq anno comments: EGF-like 9
up seq anno comments: Endocytosis signal
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In NSCLC cells.
up seq anno comments: LDL-receptor class A 1
up seq anno comments: LDL-receptor class A 10
up seq anno comments: LDL-receptor class A 11
up seq anno comments: LDL-receptor class A 12
up seq anno comments: LDL-receptor class A 13
up seq anno comments: LDL-receptor class A 14
up seq anno comments: LDL-receptor class A 15
up seq anno comments: LDL-receptor class A 16
up seq anno comments: LDL-receptor class A 17
up seq anno comments: LDL-receptor class A 18
up seq anno comments: LDL-receptor class A 19
up seq anno comments: LDL-receptor class A 2
up seq anno comments: LDL-receptor class A 20
up seq anno comments: LDL-receptor class A 21
up seq anno comments: LDL-receptor class A 22
up seq anno comments: LDL-receptor class A 23
up seq anno comments: LDL-receptor class A 24
up seq anno comments: LDL-receptor class A 25
up seq anno comments: LDL-receptor class A 26
up seq anno comments: LDL-receptor class A 27
up seq anno comments: LDL-receptor class A 28
up seq anno comments: LDL-receptor class A 29
up seq anno comments: LDL-receptor class A 3
up seq anno comments: LDL-receptor class A 30

9606:PXDNL
gene id: 9606:PXDNL
uniprot id: A1KZ92
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno comments: Ig-like C2-type 1
up seq anno comments: Ig-like C2-type 2
up seq anno comments: Ig-like C2-type 3
up seq anno comments: Ig-like C2-type 4
up seq anno comments: In isoform 2.
up seq anno comments: In isoform PMR1.
up seq anno comments: LRR 1
up seq anno comments: LRR 2
up seq anno comments: LRR 3
up seq anno comments: LRR 4
up seq anno comments: LRR 5
up seq anno comments: LRRCT
up seq anno comments: LRRNT
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Probable oxidoreductase PXDNL
up seq anno comments: Proton acceptor
up seq anno comments: Transition state stabilizer
up seq anno comments: VWFC
up seq anno comments: axial binding residue
up seq anno feature ids: PRO_0000330731
up seq anno feature ids: VAR_050488
up seq anno feature ids: VAR_050489
up seq anno feature ids: VAR_050490
up seq anno feature ids: VAR_050491
up seq anno feature ids: VAR_050492
up seq anno feature ids: VAR_050493
up seq anno feature ids: VAR_050494
up seq anno feature ids: VSP_033070
up seq anno feature ids: VSP_033071
up seq anno feature ids: VSP_044240
up seq anno feature ids: VSP_044241

9606:GAK
gene id: 9606:GAK
uniprot id: B4DS37
uniprot id: O14976
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: C2 tensin-type
up seq anno comments: Cyclin-G-associated kinase
up seq anno comments: Disordered
up seq anno comments: In a lung neuroendocrine carcinoma sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: J
up seq anno comments: N-acetylserine
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphatase tensin-type
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Removed
up seq anno feature ids: PRO_0000085958
up seq anno feature ids: VAR_040505
up seq anno feature ids: VAR_040506
up seq anno feature ids: VAR_040507
up seq anno feature ids: VAR_040508
up seq anno feature ids: VAR_040509
up seq anno feature ids: VAR_040510
up seq anno feature ids: VAR_040511
up seq anno feature ids: VAR_040512
up seq anno feature ids: VAR_040513
up seq anno feature ids: VAR_040514
up seq anno feature ids: VAR_040515
up seq anno feature ids: VSP_054479

9606:TMEM25
gene id: 9606:TMEM25
uniprot id: B7Z1M8
uniprot id: E9PKP3
uniprot id: Q86YD3
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Ig-like
up seq anno comments: In isoform 2, isoform 3 and isoform 5.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4 and isoform 5.
up seq anno comments: In isoform 5.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Transmembrane protein 25
up seq anno feature ids: PRO_0000014984
up seq anno feature ids: PRO_5002866118
up seq anno feature ids: PRO_5003242838
up seq anno feature ids: VAR_021391
up seq anno feature ids: VAR_033623
up seq anno feature ids: VSP_012939
up seq anno feature ids: VSP_012940
up seq anno feature ids: VSP_012941
up seq anno feature ids: VSP_045635

9606:AMELX
gene id: 9606:AMELX
uniprot id: Q99217
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Amelogenin, X isoform
up seq anno comments: Disordered
up seq anno comments: In AI1E.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000001199
up seq anno feature ids: VAR_000559
up seq anno feature ids: VAR_037581
up seq anno feature ids: VAR_037582
up seq anno feature ids: VAR_037583
up seq anno feature ids: VSP_000228
up seq anno feature ids: VSP_000229

9606:RUVBL1
gene id: 9606:RUVBL1
uniprot id: A0A384MTR5
uniprot id: B3KRS7
uniprot id: E7ETR0
uniprot id: Q9Y265
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: AAA+ ATPase
up seq anno comments: Abolishes ATPase activity; inhibition of MYC- and CTNNB1-mediated transformation.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: In isoform 2.
up seq anno comments: N6-acetyllysine
up seq anno comments: No effect on interaction with NOPCHAP1.
up seq anno comments: Reduces ATPase activity. Decreases interaction with NOPCHAP1. No effect on formation of RUVBL1-RUVBL2 heteromeric complex.
up seq anno comments: RuvB-like 1
up seq anno feature ids: PRO_0000165639
up seq anno feature ids: VSP_021387
up seq anno feature ids: VSP_021388

9606:HSPB7
gene id: 9606:HSPB7
uniprot id: Q9UBY9
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: Heat shock protein beta-7
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Polar residues
up seq anno comments: Required for localization to SC35 splicing speckles
up seq anno comments: sHSP
up seq anno feature ids: PRO_0000125941
up seq anno feature ids: VSP_002424
up seq anno feature ids: VSP_002425
up seq anno feature ids: VSP_002426

9606:SALL1
gene id: 9606:SALL1
uniprot id: Q9NSC2
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 1; atypical
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Sal-like protein 1
up seq anno feature ids: PRO_0000047020
up seq anno feature ids: VAR_013155
up seq anno feature ids: VAR_013156
up seq anno feature ids: VAR_013157
up seq anno feature ids: VAR_013158
up seq anno feature ids: VAR_013159
up seq anno feature ids: VSP_040502

9606:OR8U1
gene id: 9606:OR8U1
uniprot id: Q8NH10
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 8U1
up seq anno feature ids: PRO_0000150675
up seq anno feature ids: VAR_053247
up seq anno feature ids: VAR_053248
up seq anno feature ids: VAR_053249
up seq anno feature ids: VAR_053250
up seq anno feature ids: VAR_053251
up seq anno feature ids: VAR_053252
up seq anno feature ids: VAR_060014
up seq anno feature ids: VAR_060015
up seq anno feature ids: VAR_060016

9606:FAM241B
gene id: 9606:FAM241B
uniprot id: Q96D05
up seq anno parent labels: Chain
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Protein FAM241B
up seq anno feature ids: PRO_0000089790
up seq anno feature ids: VSP_042153

9606:ZNF823
gene id: 9606:ZNF823
uniprot id: P16415
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11; atypical
up seq anno comments: C2H2-type 12
up seq anno comments: C2H2-type 13
up seq anno comments: C2H2-type 14
up seq anno comments: C2H2-type 15
up seq anno comments: C2H2-type 16
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: In isoform 2.
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 823
up seq anno feature ids: PRO_0000047778
up seq anno feature ids: VAR_052909
up seq anno feature ids: VSP_055972

9606:PHF10
gene id: 9606:PHF10
uniprot id: Q8WUB8
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Essential to induce neural progenitor proliferation
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-acetylalanine
up seq anno comments: PHD finger protein 10
up seq anno comments: PHD-type 1; degenerate
up seq anno comments: PHD-type 2; degenerate
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno comments: SAY
up seq anno feature ids: PRO_0000059297
up seq anno feature ids: VSP_013440
up seq anno feature ids: VSP_039090

9606:DEFB103A
gene id: 9606:DEFB103A
uniprot id: A0A894JZ42
uniprot id: P81534
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Mass
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Peptide
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Helix
up seq anno labels: Mass
up seq anno labels: Peptide
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Beta-defensin 103
up seq anno feature ids: PRO_0000006971
up seq anno feature ids: PRO_5032611455

9606:WDR20
gene id: 9606:WDR20
uniprot id: A0A088AWN2
uniprot id: Q5JPH5
uniprot id: Q8TBZ3
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: Impaired binding to USP12.
up seq anno comments: In isoform 2 and isoform 6.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4, isoform 5 and isoform 6.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 7.
up seq anno comments: In isoform 8.
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno comments: WD
up seq anno comments: WD 1
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno comments: WD 7
up seq anno comments: WD repeat-containing protein 20
up seq anno feature ids: PRO_0000051366
up seq anno feature ids: VAR_031580
up seq anno feature ids: VAR_053425
up seq anno feature ids: VSP_024387
up seq anno feature ids: VSP_043412
up seq anno feature ids: VSP_043413
up seq anno feature ids: VSP_045225
up seq anno feature ids: VSP_045226
up seq anno feature ids: VSP_047064
up seq anno feature ids: VSP_047065

9606:B4GALT6
gene id: 9606:B4GALT6
uniprot id: G3XA83
uniprot id: Q59GB5
uniprot id: Q8WZ95
uniprot id: Q9UBX8
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Beta-1,4-galactosyltransferase 6
up seq anno comments: Cytoplasmic
up seq anno comments: Galactosyltransferase C-terminal
up seq anno comments: Galactosyltransferase N-terminal
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In isoform 2.
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000080547
up seq anno feature ids: VAR_054023
up seq anno feature ids: VSP_056554

9606:SLC38A9
gene id: 9606:SLC38A9
uniprot id: B3KVK8
uniprot id: Q8NBW4
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Abolishes arginine transport. No effect on subcellular location and interaction with Ragulator complex.
up seq anno comments: Abolishes association with the Ragulator complex.
up seq anno comments: Abolishes association with the Ragulator complex. Abolishes the interaction with the Rag GTPases heterodimer complex.
up seq anno comments: Abolishes association with the Ragulator complex. No effect on amino acid transport activity. Abolishes the interaction with the Rag GTPases heterodimer complex.
up seq anno comments: Abolishes cholesterol binding; when associated with I-460. Does not affect disrupted arginine-mediated activation of mTORC1; when associated with I-460. Does not affect lysosomal localization; when associated with I-460. Increases interactions with both Rag GTPase and Ragulator subunits; when associated with I-460. Loss of L-glutamine transport stimulation by cholesterol.
up seq anno comments: Abolishes interaction with the Ragulator and Rag GTPases complexes.
up seq anno comments: Amino acid transporter transmembrane
up seq anno comments: CARC motif
up seq anno comments: CRAC motif
up seq anno comments: Cytoplasmic
up seq anno comments: Decreases cholesterol binding. Abolishes cholesterol binding; when associated with I-449. Does not affect disrupted arginine-mediated activation of mTORC1; when associated with I-449. Does not affect lysosomal localization; when associated with I-449. Increases interactions with both Rag GTPase and Ragulator subunits; when associated with I-449. Loss of L-glutamine transport stimulation by cholesterol.
up seq anno comments: Disordered
up seq anno comments: Does not affect L-glutamine transport activity.
up seq anno comments: Does not affect association with the Ragulator complex. Abolishes the interaction with the Rag GTPases heterodimer complex.
up seq anno comments: Does not affect interaction with the Ragulator and Rag GTPases complexes.
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=10
up seq anno comments: Helical; Name=11
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: Helical; Name=8
up seq anno comments: Helical; Name=9
up seq anno comments: Important for arginine binding and amino acid transport
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Lumenal
up seq anno comments: Moderately affects amino acid transport.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Neutral amino acid transporter 9
up seq anno feature ids: PRO_0000328840
up seq anno feature ids: VAR_042546
up seq anno feature ids: VSP_032815
up seq anno feature ids: VSP_045110

9606:PLXNB1
gene id: 9606:PLXNB1
uniprot id: O43157
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Abolishes cleavage by proprotein convertases.
up seq anno comments: Abolishes interaction with RAC1 and RND1.
up seq anno comments: Cleavage; by proprotein convertases
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: IPT/TIG 1
up seq anno comments: IPT/TIG 2
up seq anno comments: IPT/TIG 3
up seq anno comments: Important for interaction with RAC1 and RND1
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of cytoskeleton remodeling in response to SEMA4D.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Plexin-B1
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Sema
up seq anno comments: Strongly reduced interaction with SEMA4D.
up seq anno feature ids: PRO_0000024671
up seq anno feature ids: VAR_036074
up seq anno feature ids: VAR_050598
up seq anno feature ids: VAR_050599
up seq anno feature ids: VSP_011513
up seq anno feature ids: VSP_011514
up seq anno feature ids: VSP_011515

9606:EPOP
gene id: 9606:EPOP
uniprot id: A6NHQ4
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno comments: Asymmetric dimethylarginine
up seq anno comments: BC-box
up seq anno comments: Disordered
up seq anno comments: Elongin BC and Polycomb repressive complex 2-associated protein
up seq anno comments: Interaction with SUZ12
up seq anno comments: Phosphoserine
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000332154

9606:CCDC112
gene id: 9606:CCDC112
uniprot id: Q8NEF3
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Coiled-coil domain-containing protein 112
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000320160
up seq anno feature ids: VAR_039147
up seq anno feature ids: VAR_039148
up seq anno feature ids: VAR_039149
up seq anno feature ids: VAR_039150
up seq anno feature ids: VSP_031624

9606:MCM2
gene id: 9606:MCM2
uniprot id: P49736
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Acidic residues
up seq anno comments: Arginine finger
up seq anno comments: Basic and acidic residues
up seq anno comments: C4-type
up seq anno comments: DNA replication licensing factor MCM2
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Impairs ATPase activity of the MCM-2-7 complex and reduces phosphorylation by the CDC7-DBF4 complex; when associated with A-27 and A-139.
up seq anno comments: Impairs ATPase activity of the MCM-2-7 complex and reduces phosphorylation by the CDC7-DBF4 complex; when associated with A-27 and A-41.
up seq anno comments: Impairs ATPase activity of the MCM-2-7 complex and reduces phosphorylation by the CDC7-DBF4 complex; when associated with A-41 and A-139.
up seq anno comments: In DFNA70; increases the apoptotic process; no effect on cell proliferation and cell cycle phase.
up seq anno comments: Interaction with DNJC9
up seq anno comments: Interaction with KAT7
up seq anno comments: Loss of interaction with DNAJC9.
up seq anno comments: MCM
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by ATR
up seq anno comments: Phosphoserine; by CDC7
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: Reduces phosphorylation by ATR.
up seq anno comments: Removed
up seq anno feature ids: PRO_0000194087
up seq anno feature ids: VAR_016137
up seq anno feature ids: VAR_016138
up seq anno feature ids: VAR_016139
up seq anno feature ids: VAR_021111
up seq anno feature ids: VAR_021112
up seq anno feature ids: VAR_033298
up seq anno feature ids: VAR_033299
up seq anno feature ids: VAR_077049

9606:TMEM132A
gene id: 9606:TMEM132A
uniprot id: Q24JP5
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Acidic residues
up seq anno comments: Binds to HSPA5/GRP78
up seq anno comments: Confers cellular localization similar to full-length form
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine; by FAM20C
up seq anno comments: Transmembrane protein 132A
up seq anno feature ids: PRO_0000287096
up seq anno feature ids: VAR_032262
up seq anno feature ids: VAR_032263
up seq anno feature ids: VSP_025302
up seq anno feature ids: VSP_025303
up seq anno feature ids: VSP_025304
up seq anno feature ids: VSP_025305
up seq anno feature ids: VSP_025306

9606:DDX28
gene id: 9606:DDX28
uniprot id: Q9NUL7
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Motif
up seq anno labels: Sequence Variant
up seq anno comments: DEAD
up seq anno comments: Helicase ATP-binding
up seq anno comments: Helicase C-terminal
up seq anno comments: Mitochondrial targeting signal
up seq anno comments: Nuclear export signal
up seq anno comments: Nuclear localization signal
up seq anno comments: Probable ATP-dependent RNA helicase DDX28
up seq anno comments: Q motif
up seq anno feature ids: PRO_0000055033
up seq anno feature ids: VAR_052163

9606:TRIM13
gene id: 9606:TRIM13
uniprot id: L7MTJ6
uniprot id: O60858
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Domain Extent
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno labels: Zinc Finger
up seq anno comments: Absence of polyubiquitination. Stability of protein increased. No enhanced apoptosis on ionizing radiation induction. No ubiquitination of AKT1 or MDM2. Decreased p53/TP53 stability. No effect on induction of autophagy during ER stress.
up seq anno comments: B box-type
up seq anno comments: BTB
up seq anno comments: E3 ubiquitin-protein ligase TRIM13
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: RING-type
up seq anno feature ids: PRO_0000056028
up seq anno feature ids: VAR_013512
up seq anno feature ids: VSP_005746
up seq anno feature ids: VSP_005747
up seq anno feature ids: VSP_038142

9606:NDUFV3
gene id: 9606:NDUFV3
uniprot id: P56181
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transit Peptide
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Transit Peptide
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Mitochondrion
up seq anno comments: NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000020025
up seq anno feature ids: VSP_038552

9606:SYCP1
gene id: 9606:SYCP1
uniprot id: A0A087WZC3
uniprot id: B7ZLS9
uniprot id: Q15431
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Helix
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: DNA-binding
up seq anno comments: Enables C-terminal tetrameric self-assembly at pH 8.0; when associated with F-721.
up seq anno comments: Enables C-terminal tetrameric self-assembly at pH 8.0; when associated with W-717.
up seq anno comments: Impairs pH-induced C-terminal tetrameric self-assembly.
up seq anno comments: Impairs pH-induced C-terminal tetrameric self-assembly; when associated with A-679.
up seq anno comments: Impairs pH-induced C-terminal tetrameric self-assembly; when associated with A-688.
up seq anno comments: Impairs self-assembly of N-terminal ends.
up seq anno comments: Impairs self-assembly of N-terminal ends; when associated with E-105.
up seq anno comments: Impairs self-assembly of N-terminal ends; when associated with E-109.
up seq anno comments: Mediates head to head self-assembly of N-terminal ends
up seq anno comments: Nuclear localization signal
up seq anno comments: Required for pH-induced assembly of C-terminal ends into antiparallel tetramers
up seq anno comments: Synaptonemal complex protein 1
up seq anno feature ids: PRO_0000072362
up seq anno feature ids: VAR_046993
up seq anno feature ids: VAR_046994

9606:TMEM240
gene id: 9606:TMEM240
uniprot id: Q5SV17
up seq anno parent labels: Chain
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: In SCA21.
up seq anno comments: Phosphoserine
up seq anno comments: Transmembrane protein 240
up seq anno feature ids: PRO_0000340728
up seq anno feature ids: VAR_071906
up seq anno feature ids: VAR_071907
up seq anno feature ids: VAR_071908
up seq anno feature ids: VAR_071909
up seq anno feature ids: VAR_071910

9606:SERPINA11
gene id: 9606:SERPINA11
uniprot id: Q86U17
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Serpin A11
up seq anno feature ids: PRO_0000041973
up seq anno feature ids: VAR_034511
up seq anno feature ids: VAR_061791

9606:CCDC184
gene id: 9606:CCDC184
uniprot id: Q52MB2
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Coiled-coil domain-containing protein 184
up seq anno comments: Disordered
up seq anno feature ids: PRO_0000335681
up seq anno feature ids: VAR_060278

9606:TBL1XR1
gene id: 9606:TBL1XR1
uniprot id: C9JLJ1
uniprot id: Q9BZK7
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: F-box-like
up seq anno comments: F-box-like/WD repeat-containing protein TBL1XR1
up seq anno comments: Found in a patient with epilepsy; unknown pathological significance.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In MRD41.
up seq anno comments: In PRPTS; does not affect assembly into the N-Cor repressor complex.
up seq anno comments: LisH
up seq anno comments: N-acetylserine
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno comments: WD
up seq anno comments: WD 1
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno comments: WD 7
up seq anno comments: WD 8
up seq anno feature ids: PRO_0000051266
up seq anno feature ids: VAR_076753
up seq anno feature ids: VAR_076754
up seq anno feature ids: VAR_076755
up seq anno feature ids: VAR_076756
up seq anno feature ids: VAR_076757
up seq anno feature ids: VAR_076758
up seq anno feature ids: VAR_076759

9606:TSPAN5
gene id: 9606:TSPAN5
uniprot id: P62079
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Tetraspanin-5
up seq anno feature ids: PRO_0000219243

9606:ADAMTS18
gene id: 9606:ADAMTS18
uniprot id: Q2VYF7
uniprot id: Q6ZN25
uniprot id: Q8TE60
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Motif
up seq anno labels: Non-terminal Residue
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: A disintegrin and metalloproteinase with thrombospondin motifs 18
up seq anno comments: Cysteine switch
up seq anno comments: Disintegrin
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In MMCAT.
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: PLAC
up seq anno comments: Peptidase M12B
up seq anno comments: Spacer
up seq anno comments: TSP type-1 1
up seq anno comments: TSP type-1 2
up seq anno comments: TSP type-1 3
up seq anno comments: TSP type-1 4
up seq anno comments: TSP type-1 5
up seq anno comments: in inhibited form
up seq anno feature ids: PRO_0000029200
up seq anno feature ids: PRO_0000042163
up seq anno feature ids: VAR_036152
up seq anno feature ids: VAR_036153
up seq anno feature ids: VAR_057083
up seq anno feature ids: VAR_057084
up seq anno feature ids: VAR_057085
up seq anno feature ids: VAR_057086
up seq anno feature ids: VAR_060231
up seq anno feature ids: VAR_060232
up seq anno feature ids: VAR_066554
up seq anno feature ids: VAR_070849
up seq anno feature ids: VAR_070850
up seq anno feature ids: VSP_015776
up seq anno feature ids: VSP_015777

9606:HS3ST5
gene id: 9606:HS3ST5
uniprot id: Q8IZT8
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: Heparan sulfate glucosamine 3-O-sulfotransferase 5
up seq anno comments: Loss of enzyme activity.
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Reduces enzyme activity by 93%,.
up seq anno comments: Reduces enzyme activity by 98%.
up seq anno comments: Reduces enzyme activity by over 99%.
up seq anno feature ids: PRO_0000085222
up seq anno feature ids: VAR_052531

9606:CDK18
gene id: 9606:CDK18
uniprot id: Q07002
uniprot id: Q59G02
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Cyclin-dependent kinase 18
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000086490
up seq anno feature ids: VAR_047802
up seq anno feature ids: VAR_047803
up seq anno feature ids: VAR_047804
up seq anno feature ids: VSP_035889

9606:KIR3DL1
gene id: 9606:KIR3DL1
uniprot id: P43629
uniprot id: Q5UCE2
uniprot id: Q8N6C9
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Ig-like C2-type 1
up seq anno comments: Ig-like C2-type 2
up seq anno comments: Ig-like C2-type 3
up seq anno comments: Immunoglobulin subtype
up seq anno comments: In isoform 2.
up seq anno comments: Killer cell immunoglobulin-like receptor 3DL1
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000015087
up seq anno feature ids: PRO_5010140726
up seq anno feature ids: PRO_5014312250
up seq anno feature ids: VAR_010319
up seq anno feature ids: VAR_010320
up seq anno feature ids: VAR_010321
up seq anno feature ids: VAR_010322
up seq anno feature ids: VAR_010323
up seq anno feature ids: VAR_010324
up seq anno feature ids: VAR_010336
up seq anno feature ids: VAR_049987
up seq anno feature ids: VAR_049988
up seq anno feature ids: VAR_049989
up seq anno feature ids: VAR_049990
up seq anno feature ids: VSP_047633

9606:GLYAT
gene id: 9606:GLYAT
uniprot id: A0A384P5E3
uniprot id: Q6IB77
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Glycine N-acyltransferase
up seq anno comments: Glycine N-acyltransferase C-terminal
up seq anno comments: Glycine N-acyltransferase N-terminal
up seq anno comments: In isoform 2.
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-succinyllysine
up seq anno comments: N6-succinyllysine; alternate
up seq anno feature ids: PRO_0000281869
up seq anno feature ids: VAR_031294
up seq anno feature ids: VAR_031295
up seq anno feature ids: VSP_024073
up seq anno feature ids: VSP_024074

9606:CLIP2
gene id: 9606:CLIP2
uniprot id: A0A140VJG6
uniprot id: A7E2F7
uniprot id: Q9UDT6
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: CAP-Gly
up seq anno comments: CAP-Gly 1
up seq anno comments: CAP-Gly 2
up seq anno comments: CAP-Gly domain-containing linker protein 2
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000083515
up seq anno feature ids: VAR_023618
up seq anno feature ids: VAR_055636
up seq anno feature ids: VSP_015682

9606:AHSG
gene id: 9606:AHSG
uniprot id: P02765
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Alpha-2-HS-glycoprotein chain A
up seq anno comments: Alpha-2-HS-glycoprotein chain B
up seq anno comments: Connecting peptide
up seq anno comments: Cystatin fetuin-A-type 1
up seq anno comments: Cystatin fetuin-A-type 2
up seq anno comments: Disordered
up seq anno comments: In APMR1; unknown pathological significance.
up seq anno comments: In allele AHSG*1.
up seq anno comments: In allele AHSG*3.
up seq anno comments: In allele AHSG*5.
up seq anno comments: Interchain (between A and B chains)
up seq anno comments: N-linked (GlcNAc...) (complex) asparagine
up seq anno comments: O-linked (GalNAc...) serine
up seq anno comments: O-linked (GalNAc...) threonine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by FAM20C
up seq anno comments: Phosphothreonine; by FAM20C
up seq anno comments: Pro residues
up seq anno feature ids: CAR_000064
up seq anno feature ids: CAR_000065
up seq anno feature ids: CAR_000067
up seq anno feature ids: CAR_000068
up seq anno feature ids: PRO_0000008887
up seq anno feature ids: PRO_0000008888
up seq anno feature ids: PRO_0000008889
up seq anno feature ids: VAR_002388
up seq anno feature ids: VAR_002389
up seq anno feature ids: VAR_012474
up seq anno feature ids: VAR_012475
up seq anno feature ids: VAR_055802
up seq anno feature ids: VAR_080645

9606:IFNB1
gene id: 9606:IFNB1
uniprot id: A0A7R8GV38
uniprot id: P01574
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Turn
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: Interferon beta
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphotyrosine
up seq anno comments: Variant found in a clone obtained from a fibroblast cell line; does not form the essential disulfide bond; results in loss of antiviral activity.
up seq anno feature ids: PRO_0000016400
up seq anno feature ids: PRO_5030807232
up seq anno feature ids: VAR_004016
up seq anno feature ids: VAR_036330

9606:SMIM10
gene id: 9606:SMIM10
uniprot id: Q96HG1
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: Small integral membrane protein 10
up seq anno feature ids: PRO_0000344238

9606:GPR17
gene id: 9606:GPR17
uniprot id: G4XH68
uniprot id: Q13304
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Uracil nucleotide/cysteinyl leukotriene receptor
up seq anno feature ids: PRO_0000069536
up seq anno feature ids: VSP_001987

9606:SNX2
gene id: 9606:SNX2
uniprot id: O60749
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Abolishes phosphatidylinositol phosphate binding. Abolishes endosomal location.
up seq anno comments: BAR
up seq anno comments: Decreases KALRN-dependent lamellipodium formation; no effect on interaction with KALRN.
up seq anno comments: Decreases KALRN-dependent lamellipodium formation; no effect on interaction with KALRN; when associated with A-426.
up seq anno comments: Decreases KALRN-dependent lamellipodium formation; no effect on interaction with KALRN; when associated with A-428.
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with RhoG
up seq anno comments: Membrane-binding amphipathic helix
up seq anno comments: N6-acetyllysine
up seq anno comments: PX
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Sorting nexin-2
up seq anno feature ids: PRO_0000213838
up seq anno feature ids: VSP_054785

9606:PRC1
gene id: 9606:PRC1
uniprot id: O43663
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Dimerization
up seq anno comments: Disordered
up seq anno comments: Impairs binding to the POLO box domains of PLK1, preventing phosphorylation by PLK1 and recruitment of PLK1 to the spindle.
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: No effect. Abolishes CDK1-mediated phosphorylation, leading to prematurely recruit PLK1 to the spindle during prometaphase and blocking mitotic progression; when associated with A-481.
up seq anno comments: No effect. Reduces in vitro cyclin E-CDK2 phosphorylation and causes extensive bundling of microtubules to the mitotic spindle; when associated with A-470.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by CDK1
up seq anno comments: Phosphothreonine; by PLK1
up seq anno comments: Protein regulator of cytokinesis 1
up seq anno comments: Required for the interaction with KIF4A
up seq anno comments: Spectrin-fold
up seq anno comments: Tubulin binding
up seq anno comments: Unstructured, Arg/Lys rich
up seq anno comments: Weakly reduces binding to the POLO box domains of PLK1.
up seq anno feature ids: PRO_0000229737
up seq anno feature ids: VAR_047768
up seq anno feature ids: VAR_047769
up seq anno feature ids: VSP_035875
up seq anno feature ids: VSP_035876
up seq anno feature ids: VSP_051979
up seq anno feature ids: VSP_051980

9606:VENTX
gene id: 9606:VENTX
uniprot id: O95231
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: Homeobox
up seq anno comments: Homeobox protein VENTX
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000305938
up seq anno feature ids: VAR_035243
up seq anno feature ids: VAR_035244
up seq anno feature ids: VAR_049591
up seq anno feature ids: VAR_049592
up seq anno feature ids: VAR_061269

9606:SERF1B
gene id: 9606:SERF1B
uniprot id: O75920
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Decreases SNCA binding.
up seq anno comments: Disordered
up seq anno comments: Drastically decreases SNCA binding.
up seq anno comments: In isoform Short.
up seq anno comments: Inhibits SNCA binding.
up seq anno comments: No effect on SNCA binding.
up seq anno comments: Required for SNCA binding
up seq anno comments: Slightly decreases SNCA binding.
up seq anno comments: Small EDRK-rich factor 1
up seq anno feature ids: PRO_0000050710
up seq anno feature ids: VSP_006057

9606:ZNF282
gene id: 9606:ZNF282
uniprot id: A0A090N8Y3
uniprot id: Q86YG2
uniprot id: Q9UDV7
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: KRAB
up seq anno comments: Phosphoserine
up seq anno comments: Pro residues
up seq anno comments: Zinc finger protein 282
up seq anno feature ids: PRO_0000047506
up seq anno feature ids: VAR_052805
up seq anno feature ids: VSP_056545
up seq anno feature ids: VSP_056546

9606:FAM83G
gene id: 9606:FAM83G
uniprot id: A6ND36
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Completely abolishes phosphorylation by ALK3 in vitro. NEDD9 and ASNS activation in response to BMPs is abolished.
up seq anno comments: Disordered
up seq anno comments: Found in patient with Joubert syndrome; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Protein FAM83G
up seq anno comments: Removed
up seq anno feature ids: PRO_0000330817
up seq anno feature ids: VAR_053903
up seq anno feature ids: VAR_075713
up seq anno feature ids: VAR_075714
up seq anno feature ids: VSP_033120
up seq anno feature ids: VSP_033121
up seq anno feature ids: VSP_033122
up seq anno feature ids: VSP_033123

9606:CDH13
gene id: 9606:CDH13
uniprot id: B7Z3H7
uniprot id: B7Z9B1
uniprot id: P55290
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Lipid Binding
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Cadherin
up seq anno comments: Cadherin 1
up seq anno comments: Cadherin 2
up seq anno comments: Cadherin 3
up seq anno comments: Cadherin 4
up seq anno comments: Cadherin 5
up seq anno comments: Cadherin-13
up seq anno comments: Disordered
up seq anno comments: GPI-anchor amidated glycine
up seq anno comments: In a patient with amyotrophic lateral sclerosis.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Removed in mature form
up seq anno feature ids: PRO_0000003793
up seq anno feature ids: PRO_0000003794
up seq anno feature ids: PRO_0000003795
up seq anno feature ids: VAR_030632
up seq anno feature ids: VAR_065747
up seq anno feature ids: VAR_065748
up seq anno feature ids: VAR_065749
up seq anno feature ids: VAR_065750
up seq anno feature ids: VAR_065751
up seq anno feature ids: VAR_065752
up seq anno feature ids: VAR_065753
up seq anno feature ids: VSP_042696
up seq anno feature ids: VSP_042697
up seq anno feature ids: VSP_042794
up seq anno feature ids: VSP_042795
up seq anno feature ids: VSP_046714
up seq anno feature ids: VSP_053739

9606:TBX2
gene id: 9606:TBX2
uniprot id: Q13207
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Abolishes binding to T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence.
up seq anno comments: Abolishes repression of tumor suppressor ARF/p14ARF expression.
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In VETD; de novo variant; decreased transcriptional regulatory activity; no effect on localization to the nucleus.
up seq anno comments: In VETD; unknown pathological significance; decreased transcriptional regulatory activity; no effect on localization to the nucleus.
up seq anno comments: Phosphoserine
up seq anno comments: Repression domain 1 (RD1)
up seq anno comments: Severely impairs repression of tumor suppressor ARF/p14ARF expression.
up seq anno comments: T-box
up seq anno comments: T-box transcription factor TBX2
up seq anno feature ids: PRO_0000184426
up seq anno feature ids: VAR_081780
up seq anno feature ids: VAR_081781

9606:DNM1
gene id: 9606:DNM1
uniprot id: B4DK06
uniprot id: B7ZAC0
uniprot id: Q05193
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 3'-nitrotyrosine; alternate
up seq anno comments: Disordered
up seq anno comments: Dynamin-1
up seq anno comments: Dynamin-type G
up seq anno comments: G1 motif
up seq anno comments: G2 motif
up seq anno comments: G3 motif
up seq anno comments: G4 motif
up seq anno comments: G5 motif
up seq anno comments: GED
up seq anno comments: In DEE31A.
up seq anno comments: In DEE31B.
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: Inhibits receptor-mediated endocytosis.
up seq anno comments: Omega-N-methylarginine
up seq anno comments: PH
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Phosphotyrosine; alternate
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000206563
up seq anno feature ids: VAR_048904
up seq anno feature ids: VAR_073710
up seq anno feature ids: VAR_073711
up seq anno feature ids: VAR_073712
up seq anno feature ids: VAR_073713
up seq anno feature ids: VAR_088263
up seq anno feature ids: VAR_088264
up seq anno feature ids: VSP_031518
up seq anno feature ids: VSP_031519

9606:OTOG
gene id: 9606:OTOG
uniprot id: H9KVB3
uniprot id: Q6ZRI0
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: CTCK
up seq anno comments: Disordered
up seq anno comments: EGF-like
up seq anno comments: In DFNB18B.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Otogelin
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: TIL
up seq anno comments: VWFD
up seq anno comments: VWFD 1
up seq anno comments: VWFD 2
up seq anno comments: VWFD 3
up seq anno comments: VWFD 4
up seq anno feature ids: PRO_0000312148
up seq anno feature ids: PRO_5003622148
up seq anno feature ids: VAR_037406
up seq anno feature ids: VAR_037407
up seq anno feature ids: VAR_037408
up seq anno feature ids: VAR_037409
up seq anno feature ids: VAR_037410
up seq anno feature ids: VAR_037411
up seq anno feature ids: VAR_037412
up seq anno feature ids: VAR_037413
up seq anno feature ids: VAR_037414
up seq anno feature ids: VAR_037415
up seq anno feature ids: VAR_037416
up seq anno feature ids: VAR_037417
up seq anno feature ids: VAR_037418
up seq anno feature ids: VAR_047262
up seq anno feature ids: VAR_061161
up seq anno feature ids: VAR_069250
up seq anno feature ids: VAR_084731
up seq anno feature ids: VSP_029709
up seq anno feature ids: VSP_029710
up seq anno feature ids: VSP_029711
up seq anno feature ids: VSP_029712
up seq anno feature ids: VSP_029713
up seq anno feature ids: VSP_029714

9606:FFAR1
gene id: 9606:FFAR1
uniprot id: O14842
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Constitutive receptor signaling.
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Free fatty acid receptor 1
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: Important for receptor activation
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Reduces cell surface expression and response to linolenic acid and synthetic agonists.
up seq anno comments: Reduces response to linolenic acid. Reduces response to synthetic agonists.
up seq anno comments: Reduces response to linolenic acid. Strongly reduces response to synthetic agonists.
up seq anno comments: Reduces response to synthetic agonists.
up seq anno comments: Strongly reduces response to linolenic acid. Strongly reduces response to synthetic agonists.
up seq anno feature ids: PRO_0000069567
up seq anno feature ids: VAR_020076

9606:CTU1
gene id: 9606:CTU1
uniprot id: Q7Z7A3
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Cytoplasmic tRNA 2-thiolation protein 1
up seq anno comments: Disordered
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000282391
up seq anno feature ids: VAR_031402

9606:GALNT10
gene id: 9606:GALNT10
uniprot id: Q86SR1
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Catalytic subdomain A
up seq anno comments: Catalytic subdomain B
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Flexible loop
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polypeptide N-acetylgalactosaminyltransferase 10
up seq anno comments: Ricin B-type lectin
up seq anno feature ids: PRO_0000059122
up seq anno feature ids: VSP_011207
up seq anno feature ids: VSP_011208
up seq anno feature ids: VSP_011209
up seq anno feature ids: VSP_011212
up seq anno feature ids: VSP_011213
up seq anno feature ids: VSP_011214

9606:NR5A2
gene id: 9606:NR5A2
uniprot id: F1D8R9
uniprot id: O00482
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Disordered
up seq anno comments: FTZ-F1 box
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)
up seq anno comments: Impaired ability to act as an anti-inflammatory role during the hepatic acute phase response.
up seq anno comments: In isoform 1.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: NR C4-type
up seq anno comments: NR LBD
up seq anno comments: Nuclear receptor
up seq anno comments: Nuclear receptor subfamily 5 group A member 2
up seq anno comments: Reduced DNA binding. Loss of transactivation.
up seq anno comments: Reduced phospholipid binding. Strongly reduced transactivation; when associated with W-342.
up seq anno comments: Reduced phospholipid binding. Strongly reduced transactivation; when associated with W-416.
up seq anno comments: Slightly reduced DNA binding. Strongly reduced transactivation; when associated with A-168 and A-172.
up seq anno comments: Slightly reduced DNA binding. Strongly reduced transactivation; when associated with A-96 and A-168.
up seq anno comments: Slightly reduced DNA binding. Strongly reduced transactivation; when associated with A-96 and A-172.
up seq anno feature ids: PRO_0000053735
up seq anno feature ids: VSP_003716
up seq anno feature ids: VSP_003717
up seq anno feature ids: VSP_054548

9606:GMFB
gene id: 9606:GMFB
uniprot id: P60983
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno comments: ADF-H
up seq anno comments: Glia maturation factor beta
up seq anno comments: N-acetylserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000214943

9606:CPNE5
gene id: 9606:CPNE5
uniprot id: Q9HCH3
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: C2 1
up seq anno comments: C2 2
up seq anno comments: Copine-5
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Pro residues
up seq anno comments: VWFA
up seq anno feature ids: PRO_0000144843
up seq anno feature ids: VAR_020358
up seq anno feature ids: VAR_021954
up seq anno feature ids: VSP_056535

9606:MRM2
gene id: 9606:MRM2
uniprot id: Q9UI43
uniprot id: V9HWJ9
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: In MTDPS17.
up seq anno comments: Mitochondrion
up seq anno comments: Proton acceptor
up seq anno comments: Ribosomal RNA methyltransferase FtsJ
up seq anno comments: rRNA methyltransferase 2, mitochondrial
up seq anno feature ids: PRO_0000155576
up seq anno feature ids: VAR_083280

9606:GCNA
gene id: 9606:GCNA
uniprot id: Q96QF7
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Disordered
up seq anno comments: Germ cell nuclear acidic protein
up seq anno comments: Impairs SUMO2 interaction. Loss of SUMO2 interaction; when associated with 22-A--A-25, 76-A--A-79 and 121-A--A-124. Loss of SUMO2-dependent recruitment to DNA-protein cross-links (DPCs); when associated with 22-A--A-25; 76-A--A-79 and 121-A--A-124.
up seq anno comments: Impairs SUMO2 interaction. Loss of SUMO2 interaction; when associated with 22-A--A-25, 76-A--A-79 and 97-A--A-100. Loss of SUMO2-dependent recruitment to DNA-protein cross-links (DPCs); when associated with 22-A--A-25; 76-A--A-79 and 97-A--A-100.
up seq anno comments: Impairs SUMO2 interaction. Loss of SUMO2 interaction; when associated with 22-A--A-25, 97-A--A-100 and 121-A--A-124. Loss of SUMO2-dependent recruitment to DNA-protein cross-links (DPCs); when associated with 22-A--A-25; 97-A--A-100 and 121-A--A-124.
up seq anno comments: Impairs SUMO2 interaction. Loss of SUMO2 interaction; when associated with 76-A--A-79, 97-A--A-100 and 121-A--A-124. Loss of SUMO2-dependent recruitment to DNA-protein cross-links (DPCs); when associated with 76-A--A-79; 97-A--A-100 and 121-A--A-124.
up seq anno comments: In SPGFX4.
up seq anno comments: In SPGFX4; unknown pathological significance.
up seq anno comments: In SPGFX4; unknown pathological significance; requires 2 nucleotide substitutions.
up seq anno comments: Polar residues
up seq anno comments: SUMO interaction motif 1 (SIM)
up seq anno comments: SprT-like
up seq anno feature ids: PRO_0000317387
up seq anno feature ids: VAR_038520
up seq anno feature ids: VAR_050634
up seq anno feature ids: VAR_085476
up seq anno feature ids: VAR_085477
up seq anno feature ids: VAR_085478
up seq anno feature ids: VAR_085479
up seq anno feature ids: VAR_085480
up seq anno feature ids: VAR_085481
up seq anno feature ids: VAR_085482
up seq anno feature ids: VAR_085483
up seq anno feature ids: VAR_085484
up seq anno feature ids: VAR_085486
up seq anno feature ids: VAR_085487
up seq anno feature ids: VAR_085488
up seq anno feature ids: VAR_085489
up seq anno feature ids: VAR_085490
up seq anno feature ids: VAR_085491
up seq anno feature ids: VAR_087077

9606:MMP11
gene id: 9606:MMP11
uniprot id: B3KQS8
uniprot id: P24347
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Motif
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Activation peptide
up seq anno comments: Cysteine switch
up seq anno comments: Disordered
up seq anno comments: Hemopexin
up seq anno comments: Hemopexin 1
up seq anno comments: Hemopexin 2
up seq anno comments: Hemopexin 3
up seq anno comments: Hemopexin 4
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: Peptidase metallopeptidase
up seq anno comments: Stromelysin-3
up seq anno comments: in inhibited form
up seq anno feature ids: PRO_0000028770
up seq anno feature ids: PRO_0000028771
up seq anno feature ids: PRO_5010105240
up seq anno feature ids: VAR_022181
up seq anno feature ids: VAR_022182
up seq anno feature ids: VAR_022183
up seq anno feature ids: VAR_022184
up seq anno feature ids: VAR_029659
up seq anno feature ids: VAR_036140

9606:UTP3
gene id: 9606:UTP3
uniprot id: Q9NQZ2
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Acidic residues
up seq anno comments: Basic residues
up seq anno comments: Citrulline
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Something about silencing protein 10
up seq anno feature ids: PRO_0000114326
up seq anno feature ids: VAR_051897

9606:STARD5
gene id: 9606:STARD5
uniprot id: Q9NSY2
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: In isoform 2.
up seq anno comments: START
up seq anno comments: StAR-related lipid transfer protein 5
up seq anno feature ids: PRO_0000220669
up seq anno feature ids: VAR_052071
up seq anno feature ids: VSP_014871
up seq anno feature ids: VSP_014872

9606:CREBRF
gene id: 9606:CREBRF
uniprot id: Q8IUR6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Acidic residues
up seq anno comments: Basic motif
up seq anno comments: CREB3 regulatory factor
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Leucine-zipper
up seq anno comments: Polar residues
up seq anno comments: bZIP
up seq anno feature ids: PRO_0000299306
up seq anno feature ids: VAR_034795
up seq anno feature ids: VSP_027601
up seq anno feature ids: VSP_027602
up seq anno feature ids: VSP_027603

9606:TUBGCP4
gene id: 9606:TUBGCP4
uniprot id: Q9UGJ1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Gamma-tubulin complex component 4
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000078124
up seq anno feature ids: VSP_040085

9606:APBA1
gene id: 9606:APBA1
uniprot id: Q02410
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Amyloid-beta A4 precursor protein-binding family A member 1
up seq anno comments: Autoinhibitory helix linker
up seq anno comments: Basic and acidic residues
up seq anno comments: Diminishes interaction with APP.
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: LIN-2/CASK binding
up seq anno comments: Munc-18-1 binding
up seq anno comments: PDZ 1
up seq anno comments: PDZ 2
up seq anno comments: PID
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000064614
up seq anno feature ids: VAR_050664
up seq anno feature ids: VSP_053518

9606:SLAIN1
gene id: 9606:SLAIN1
uniprot id: A0A0A0MSS3
uniprot id: B7Z326
uniprot id: Q7L0J2
uniprot id: Q8ND83
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Asymmetric dimethylarginine
up seq anno comments: Disordered
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: SLAIN motif-containing protein 1
up seq anno feature ids: PRO_0000316962
up seq anno feature ids: VSP_030832
up seq anno feature ids: VSP_043256
up seq anno feature ids: VSP_043257
up seq anno feature ids: VSP_054118

9606:CDC5L
gene id: 9606:CDC5L
uniprot id: Q99459
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes DNA-binding; when associated with G-31 and G-53.
up seq anno comments: Abolishes DNA-binding; when associated with G-31 and G-82.
up seq anno comments: Abolishes DNA-binding; when associated with G-53 and G-82.
up seq anno comments: Abolishes phosphorylation. Markedly diminished pre-mRNA splicing activity; when associated with A-411. No effect on homodimerization nor on nuclear localization; when associated with A-227; A-303; A-358; A-385; A-404; A-411; A-417 and A-424.
up seq anno comments: Abolishes phosphorylation. Markedly diminished pre-mRNA splicing activity; when associated with A-438. No effect on homodimerization nor on nuclear localization; when associated with A-227; A-303; A-358; A-385; A-404; A-417; A-424 and A-438.
up seq anno comments: Abolishes phosphorylation. No effect on homodimerization nor on nuclear localization; when associated with A-227; A-303; A-358; A-385; A-404; A-411; A-417 and A-438.
up seq anno comments: Abolishes phosphorylation. No effect on homodimerization nor on nuclear localization; when associated with A-227; A-303; A-358; A-385; A-404; A-411; A-424 and A-438.
up seq anno comments: Abolishes phosphorylation. No effect on homodimerization nor on nuclear localization; when associated with A-227; A-303; A-358; A-385; A-411; A-417; A-424 and A-438.
up seq anno comments: Abolishes phosphorylation. No effect on homodimerization nor on nuclear localization; when associated with A-227; A-303; A-385; A-404; A-411; A-417; A-424 and A-438.
up seq anno comments: Abolishes phosphorylation. No effect on homodimerization nor on nuclear localization; when associated with A-227; A-358; A-385; A-404; A-411; A-417; A-424 and A-438.
up seq anno comments: Abolishes phosphorylation. No effect on homodimerization nor on nuclear localization; when associated with A-303; A-358; A-385; A-404; A-411; A-417; A-424 and A-438.
up seq anno comments: Basic and acidic residues
up seq anno comments: Breakpoint for translocation
up seq anno comments: Cell division cycle 5-like protein
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: H-T-H motif
up seq anno comments: HTH myb-type 1
up seq anno comments: HTH myb-type 2
up seq anno comments: Interaction with DAPK3
up seq anno comments: Interaction with PLRG1
up seq anno comments: Interaction with PPP1R8
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Required for interaction with CTNNBL1
up seq anno feature ids: PRO_0000197091
up seq anno feature ids: VAR_050181

9606:TBCE
gene id: 9606:TBCE
uniprot id: A0A2R8Y6Q1
uniprot id: Q15813
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: CAP-Gly
up seq anno comments: In HRDS and KCS1.
up seq anno comments: In PEAMO; decreased function in the organization of microtubule cytoskeleton and mitotic splindle.
up seq anno comments: In isoform 2.
up seq anno comments: LRR 1
up seq anno comments: LRR 2
up seq anno comments: LRR 3
up seq anno comments: LRR 4
up seq anno comments: LRR 5
up seq anno comments: LRR 6
up seq anno comments: LRR 7
up seq anno comments: LRRCT
up seq anno comments: N-acetylserine
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno comments: Tubulin-specific chaperone E
up seq anno comments: Ubiquitin-like
up seq anno feature ids: PRO_0000083538
up seq anno feature ids: VAR_032920
up seq anno feature ids: VAR_032921
up seq anno feature ids: VAR_032922
up seq anno feature ids: VAR_032923
up seq anno feature ids: VAR_077878
up seq anno feature ids: VSP_053870

9606:UGT2B15
gene id: 9606:UGT2B15
uniprot id: P54855
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: N6-succinyllysine
up seq anno comments: UDP-glucuronosyltransferase 2B15
up seq anno feature ids: PRO_0000036039
up seq anno feature ids: VAR_007713
up seq anno feature ids: VAR_018348

9606:DKK2
gene id: 9606:DKK2
uniprot id: Q9UBU2
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: DKK-type Cys-1
up seq anno comments: DKK-type Cys-2
up seq anno comments: Dickkopf-related protein 2
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000007220
up seq anno feature ids: VAR_021966

9606:D2HGDH
gene id: 9606:D2HGDH
uniprot id: B3KSR6
uniprot id: B4E3K7
uniprot id: B5MCV2
uniprot id: Q8N465
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: D-2-hydroxyglutarate dehydrogenase, mitochondrial
up seq anno comments: FAD-binding PCMH-type
up seq anno comments: In D2HGA1; mild phenotype; unknown pathological significance; moderate reduction in catalytic activity.
up seq anno comments: In D2HGA1; severe phenotype; unknown pathological significance; almost complete loss of catalytic activity.
up seq anno comments: In D2HGA1; severe phenotype; unknown pathological significance; significant reduction in catalytic activity.
up seq anno comments: In D2HGA1; unknown pathological significance.
up seq anno comments: In D2HGA1; unknown pathological significance; almost complete loss of catalytic activity.
up seq anno comments: In D2HGA1; unknown pathological significance; complete loss of catalytic activity.
up seq anno comments: In D2HGA1; unknown pathological significance; moderate reduction in catalytic activity.
up seq anno comments: In D2HGA1; unknown pathological significance; no effect on catalytic activity.
up seq anno comments: In D2HGA1; unknown pathological significance; significant loss of catalytic activity.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of catalytic activity.
up seq anno comments: Mitochondrion
up seq anno comments: N6-succinyllysine
up seq anno comments: Significantly reduced catalytic activity.
up seq anno comments: Slight reduction in catalytic activity.
up seq anno feature ids: PRO_0000231674
up seq anno feature ids: PRO_5002801150
up seq anno feature ids: VAR_025889
up seq anno feature ids: VAR_025890
up seq anno feature ids: VAR_025891
up seq anno feature ids: VAR_025892
up seq anno feature ids: VAR_025893
up seq anno feature ids: VAR_025894
up seq anno feature ids: VAR_050433
up seq anno feature ids: VAR_050434
up seq anno feature ids: VAR_084974
up seq anno feature ids: VAR_084975
up seq anno feature ids: VAR_084976
up seq anno feature ids: VAR_084977
up seq anno feature ids: VAR_084978
up seq anno feature ids: VAR_084979
up seq anno feature ids: VAR_084980
up seq anno feature ids: VAR_084981
up seq anno feature ids: VAR_084982
up seq anno feature ids: VAR_084983
up seq anno feature ids: VAR_084984
up seq anno feature ids: VAR_084985
up seq anno feature ids: VAR_084986
up seq anno feature ids: VAR_084987

9606:IL17B
gene id: 9606:IL17B
uniprot id: Q9UHF5
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Signal Peptide
up seq anno comments: Disordered
up seq anno comments: Interleukin-17B
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000015426

9606:DOC2B
gene id: 9606:DOC2B
uniprot id: Q14184
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: C2 1
up seq anno comments: C2 2
up seq anno comments: Disordered
up seq anno comments: Double C2-like domain-containing protein beta
up seq anno comments: In a patient with amyotrophic lateral sclerosis.
up seq anno comments: Mediates interaction with DYNLT1
up seq anno comments: Mediates interaction with STXBP3
up seq anno comments: Negatively regulates targeting to plasma membrane
up seq anno comments: Phosphoserine
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000079968
up seq anno feature ids: VAR_065743

9606:ZFAND2A
gene id: 9606:ZFAND2A
uniprot id: Q8N6M9
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: AN1-type 1
up seq anno comments: AN1-type 2
up seq anno comments: AN1-type zinc finger protein 2A
up seq anno feature ids: PRO_0000269888
up seq anno feature ids: VAR_055295

9606:BSPRY
gene id: 9606:BSPRY
uniprot id: Q5W0U4
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: B box and SPRY domain-containing protein
up seq anno comments: B box-type
up seq anno comments: B30.2/SPRY
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000244257
up seq anno feature ids: VAR_026882
up seq anno feature ids: VAR_026883
up seq anno feature ids: VAR_048397
up seq anno feature ids: VSP_019527
up seq anno feature ids: VSP_019528

9606:ANKS1A
gene id: 9606:ANKS1A
uniprot id: Q05CP0
uniprot id: Q92625
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: ANK
up seq anno comments: ANK 1
up seq anno comments: ANK 2
up seq anno comments: ANK 3
up seq anno comments: ANK 4
up seq anno comments: ANK 5
up seq anno comments: ANK 6
up seq anno comments: Ankyrin repeat and SAM domain-containing protein 1A
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylglycine
up seq anno comments: PID
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno comments: SAM 1
up seq anno comments: SAM 2
up seq anno feature ids: PRO_0000066921
up seq anno feature ids: VAR_021168
up seq anno feature ids: VAR_048282
up seq anno feature ids: VSP_056512
up seq anno feature ids: VSP_056513

9606:NOBOX
gene id: 9606:NOBOX
uniprot id: O60393
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Homeobox
up seq anno comments: Homeobox protein NOBOX
up seq anno comments: In POF5.
up seq anno comments: In POF5; likely benign variant; decreased nuclear location; intranuclear and cytosolic aggregates.
up seq anno comments: In POF5; unknown pathological significance; decreased nuclear location; intranuclear and cytosolic aggregates.
up seq anno comments: In POF5; unknown pathological significance; decreased transactivation activity.
up seq anno comments: In POF5; unknown pathological significance; decreased transactivation activity; decreased nuclear location; intranuclear and cytosolic aggregates.
up seq anno comments: In POF5; unknown pathological significance; loss of transactivation activity; intranuclear and cytosolic aggregates; not statistically significant decrease of nuclear location.
up seq anno comments: In POF5; unknown pathological significance; not statistically significant decrease of nuclear location.
up seq anno comments: In isoform 2.
up seq anno comments: No effect on transactivation activity.
up seq anno comments: No effect on transactivation activity; not statistically significant decrease of nuclear location.
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000268865
up seq anno feature ids: VAR_036636
up seq anno feature ids: VAR_036637
up seq anno feature ids: VAR_036638
up seq anno feature ids: VAR_036639
up seq anno feature ids: VAR_036640
up seq anno feature ids: VAR_061266
up seq anno feature ids: VAR_066013
up seq anno feature ids: VAR_066014
up seq anno feature ids: VAR_066015
up seq anno feature ids: VAR_078291
up seq anno feature ids: VAR_078292
up seq anno feature ids: VAR_078293
up seq anno feature ids: VAR_078294
up seq anno feature ids: VAR_078295
up seq anno feature ids: VAR_078296
up seq anno feature ids: VSP_028796

9606:IRF3
gene id: 9606:IRF3
uniprot id: E2GIM5
uniprot id: E2GIM6
uniprot id: E2GIM7
uniprot id: E2GIM8
uniprot id: E2GIM9
uniprot id: M0QYT9
uniprot id: Q14653
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: DNA Binding
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: DNA Binding
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: (Microbial infection) Phosphoserine
up seq anno comments: Abolished cleavage by CASP3.
up seq anno comments: Abolished interaction with STING1, MAVS or TICAM1.
up seq anno comments: Abolishes nuclear export.
up seq anno comments: Abolishes nuclear localization.
up seq anno comments: Acts as a constitutively activated IRF3.
up seq anno comments: Basic and acidic residues
up seq anno comments: Cleavage; by CASP3
up seq anno comments: Complete loss of viral infection induced phosphorylation.
up seq anno comments: Decreased IFNB induction upon Sendai virus infection.
up seq anno comments: Decreased interaction with TICAM1.
up seq anno comments: Disordered
up seq anno comments: Does not affect cleavage by CASP3.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ISG15)
up seq anno comments: Highly diminished ISGylation; when associated with R-193 and R-360.
up seq anno comments: Highly diminished ISGylation; when associated with R-193 and R-366.
up seq anno comments: Highly diminished ISGylation; when associated with R-360 and R-366.
up seq anno comments: IRF tryptophan pentad repeat
up seq anno comments: In IIAE7; loss of viral infection-induced phosphorylation at S-386; loss of viral infection-induced homodimerization; loss of viral infection-induced transcription factor activity; unable to activate interferon transcription in response to viral infection; decreased IFNB induction upon Sendai virus infection.
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: Interaction with HERC5
up seq anno comments: Interferon regulatory factor 3
up seq anno comments: Interferon regulatory factor-3
up seq anno comments: Mediates interaction with ZDHHC11
up seq anno comments: No effect on IFNB induction upon Sendai virus infection.
up seq anno comments: No effect on subcellular localization.
up seq anno comments: Nuclear export signal
up seq anno comments: Phosphomimetic mutant; interacts with CREBBP; when associated with E-386.
up seq anno comments: Phosphomimetic mutant; interacts with CREBBP; when associated with E-396.
up seq anno comments: Phosphoserine

9606:KRTAP1-1
gene id: 9606:KRTAP1-1
uniprot id: Q07627
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno comments: In allele KAP1.6.
up seq anno comments: In allele KAP1.7.
up seq anno comments: Keratin-associated protein 1-1
up seq anno feature ids: PRO_0000223901
up seq anno feature ids: VAR_025348
up seq anno feature ids: VAR_025353

9606:IWS1
gene id: 9606:IWS1
uniprot id: Q96ST2
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Turn
up seq anno comments: 1
up seq anno comments: 2
up seq anno comments: 3 X approximate tandem repeats
up seq anno comments: 3; half-length
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Integrase domain-binding motif (IBM)
up seq anno comments: Interaction with SUPT6H and ALYREF
up seq anno comments: Loss of interaction with PSIP1; when associated with A-476.
up seq anno comments: Loss of interaction with PSIP1; when associated with A-477.
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphomimetic mutant. Moderate increase in interaction with PSIP1.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Protein IWS1 homolog
up seq anno comments: TFIIS N-terminal
up seq anno feature ids: PRO_0000083346
up seq anno feature ids: VAR_055975
up seq anno feature ids: VAR_055976
up seq anno feature ids: VSP_016992
up seq anno feature ids: VSP_016993

9606:SRGN
gene id: 9606:SRGN
uniprot id: P10124
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: 1
up seq anno comments: 2
up seq anno comments: 3
up seq anno comments: 4
up seq anno comments: 5
up seq anno comments: 6
up seq anno comments: 7
up seq anno comments: 8
up seq anno comments: 9
up seq anno comments: 9 X 2 AA tandem repeats of [SF]-G
up seq anno comments: Disordered
up seq anno comments: O-linked (Xyl...) (glycosaminoglycan) serine
up seq anno comments: Serglycin
up seq anno feature ids: PRO_0000026679
up seq anno feature ids: VAR_032761

9606:LARP6
gene id: 9606:LARP6
uniprot id: Q9BRS8
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: HTH La-type RNA-binding
up seq anno comments: In isoform 2.
up seq anno comments: La-related protein 6
up seq anno comments: N-acetylalanine
up seq anno comments: Nuclear export signal
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: RRM
up seq anno comments: Removed
up seq anno comments: SUZ-C
up seq anno feature ids: PRO_0000281141
up seq anno feature ids: VSP_042565

9606:PSMD11
gene id: 9606:PSMD11
uniprot id: O00231
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: 26S proteasome non-ATPase regulatory subunit 11
up seq anno comments: Does not affect phosphorylation by AMPK; when associated with A-14 and A-272.
up seq anno comments: Does not affect phosphorylation by AMPK; when associated with A-79 and A-272.
up seq anno comments: Does not affect phosphorylation by AMPK; when associated with A14- and A-79.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylalanine
up seq anno comments: PCI
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000173857
up seq anno feature ids: VSP_044400

9606:AKAP7
gene id: 9606:AKAP7
uniprot id: O43687
uniprot id: Q2TAJ5
uniprot id: Q6P4D3
uniprot id: Q9P0M2
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Lipid Binding
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: A-kinase anchor protein 7 RI-RII subunit-binding
up seq anno comments: A-kinase anchor protein 7 isoform gamma
up seq anno comments: A-kinase anchor protein 7 isoforms alpha and beta
up seq anno comments: Abolishes membrane localization and affects its ability to inhibit ENaC activity in a sodium-dependent manner.
up seq anno comments: Disordered
up seq anno comments: In isoform Alpha.
up seq anno comments: N-myristoyl glycine
up seq anno comments: PKA-RII-alpha subunit binding domain
up seq anno comments: Polar residues
up seq anno comments: RI-alpha-binding
up seq anno comments: RII-binding
up seq anno comments: Removed
up seq anno comments: Required for apical membrane localization
up seq anno comments: Required for membrane localization
up seq anno comments: S-palmitoyl cysteine
up seq anno feature ids: PRO_0000064522
up seq anno feature ids: PRO_0000064523
up seq anno feature ids: VAR_024246
up seq anno feature ids: VAR_024247
up seq anno feature ids: VSP_004101

9606:TEX28
gene id: 9606:TEX28
uniprot id: O15482
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: Polar residues
up seq anno comments: Testis-specific protein TEX28
up seq anno feature ids: PRO_0000184594

9606:FGF6
gene id: 9606:FGF6
uniprot id: A0A7U3JW05
uniprot id: P10767
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Transmembrane
up seq anno comments: Fibroblast growth factor 6
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000008961
up seq anno feature ids: VAR_018882
up seq anno feature ids: VAR_018883
up seq anno feature ids: VAR_018884
up seq anno feature ids: VAR_018885

9606:KDM1A
gene id: 9606:KDM1A
uniprot id: O60341
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes histone demethylase activity.
up seq anno comments: Basic and acidic residues
up seq anno comments: Demethylase activity
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: In CPRF.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of polyubiquitination.
up seq anno comments: Lysine-specific histone demethylase 1A
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: SWIRM
up seq anno comments: Strongly reduces demethylase activity.
up seq anno feature ids: PRO_0000099881
up seq anno feature ids: VAR_076366
up seq anno feature ids: VAR_076367
up seq anno feature ids: VAR_076368
up seq anno feature ids: VSP_011198
up seq anno feature ids: VSP_011199

9606:FLOT1
gene id: 9606:FLOT1
uniprot id: O75955
uniprot id: Q5ST80
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Band 7
up seq anno comments: Flotillin-1
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000094044
up seq anno feature ids: VAR_048415
up seq anno feature ids: VSP_056227

9606:CGB2
gene id: 9606:CGB2
uniprot id: Q6NT52
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Signal Peptide
up seq anno comments: Choriogonadotropin subunit beta variant 2
up seq anno comments: Disordered
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000342549

9606:TIMELESS
gene id: 9606:TIMELESS
uniprot id: Q9UNS1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes interaction with PARP1.
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: DNA-binding domain
up seq anno comments: Disordered
up seq anno comments: In FASPS4; reduced protein stability; mislocalization in cytoplasm; reduced interaction with CRY2; enhanced destabilization of the PER2-CRY2 complex; reduced repressor activity of CLOCK|NPAS2-ARTNL/BMAL1|ARTNL2/BMAL2-induced transactivation of PER1; does not affect interaction with PER2.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with PARP1
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Protein timeless homolog
up seq anno comments: Required for homodimerization and for interaction with CRY1 and CHEK1
up seq anno comments: Required for nuclear localization
up seq anno feature ids: PRO_0000072538
up seq anno feature ids: VAR_021483
up seq anno feature ids: VAR_021484
up seq anno feature ids: VAR_021485
up seq anno feature ids: VAR_036435
up seq anno feature ids: VAR_036436
up seq anno feature ids: VAR_047879
up seq anno feature ids: VAR_047880
up seq anno feature ids: VAR_047881
up seq anno feature ids: VAR_047882
up seq anno feature ids: VAR_047883
up seq anno feature ids: VAR_047884
up seq anno feature ids: VAR_087625
up seq anno feature ids: VSP_051693

9606:MX1
gene id: 9606:MX1
uniprot id: H9KVC7
uniprot id: P20591
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Bundle signaling element (BSE)
up seq anno comments: Critical for lipid-binding
up seq anno comments: Dynamin-type G
up seq anno comments: Fails to sequester viral nucleoproteins, no antiviral activity.
up seq anno comments: G1 motif
up seq anno comments: G2 motif
up seq anno comments: G3 motif
up seq anno comments: G4 motif
up seq anno comments: G5 motif
up seq anno comments: GED
up seq anno comments: In isoform 2.
up seq anno comments: Interferon-induced GTP-binding protein Mx1
up seq anno comments: Interferon-induced GTP-binding protein Mx1, N-terminally processed
up seq anno comments: Loss of GTP-binding. Loss of potentiation of TRPC6 activity. Loss of protection against viral infection.
up seq anno comments: Loss of GTP-binding. Loss of protection against viral infection.
up seq anno comments: Loss of GTP-hydrolysis. No effect on GTP-binding, nor on potentiation of TRPC6 activity.
up seq anno comments: Loss of antiviral activity towards CCHFV and LACV.
up seq anno comments: Middle domain
up seq anno comments: N-acetylmethionine; in Interferon-induced GTP-binding protein Mx1; alternate
up seq anno comments: No effect on GTP-binding, nor on viral infection.
up seq anno comments: Reduced antiviral activity.
up seq anno comments: Removed; alternate
up seq anno comments: Stalk
up seq anno comments: Strong liposome-binding reduction.
up seq anno feature ids: PRO_0000206592
up seq anno feature ids: PRO_0000382943
up seq anno feature ids: VAR_034116
up seq anno feature ids: VAR_034117
up seq anno feature ids: VAR_058010
up seq anno feature ids: VSP_042904

9606:DCAF17
gene id: 9606:DCAF17
uniprot id: Q5H9S7
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: DDB1- and CUL4-associated factor 17
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000300118
up seq anno feature ids: VAR_050711
up seq anno feature ids: VSP_027788

9606:FUZ
gene id: 9606:FUZ
uniprot id: Q9BT04
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Protein fuzzy homolog
up seq anno feature ids: PRO_0000312920
up seq anno feature ids: VAR_037615
up seq anno feature ids: VAR_037616
up seq anno feature ids: VAR_037617
up seq anno feature ids: VSP_029965
up seq anno feature ids: VSP_029966

9606:KLHDC7A
gene id: 9606:KLHDC7A
uniprot id: Q5VTJ3
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: Kelch 1
up seq anno comments: Kelch 2
up seq anno comments: Kelch 3
up seq anno comments: Kelch 4
up seq anno comments: Kelch 5
up seq anno comments: Kelch domain-containing protein 7A
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000285085
up seq anno feature ids: VAR_031913
up seq anno feature ids: VAR_031914
up seq anno feature ids: VAR_056126
up seq anno feature ids: VAR_056127
up seq anno feature ids: VAR_059441
up seq anno feature ids: VAR_059442
up seq anno feature ids: VAR_061341
up seq anno feature ids: VAR_061342

9606:PLB1
gene id: 9606:PLB1
uniprot id: B2RWP8
uniprot id: Q6P1J6
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: 1
up seq anno comments: 2
up seq anno comments: 3
up seq anno comments: 4
up seq anno comments: 4 X 308-326 AA approximate repeats
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Necessary for membrane localization
up seq anno comments: Phospholipase B1, membrane-associated
up seq anno feature ids: PRO_0000324383
up seq anno feature ids: PRO_5002782169
up seq anno feature ids: VAR_039793
up seq anno feature ids: VAR_039794
up seq anno feature ids: VAR_039795
up seq anno feature ids: VAR_039796
up seq anno feature ids: VAR_039797
up seq anno feature ids: VAR_061358
up seq anno feature ids: VSP_032225
up seq anno feature ids: VSP_032226
up seq anno feature ids: VSP_032227
up seq anno feature ids: VSP_032228
up seq anno feature ids: VSP_032229
up seq anno feature ids: VSP_032230
up seq anno feature ids: VSP_032231
up seq anno feature ids: VSP_032232

9606:GRIK5
gene id: 9606:GRIK5
uniprot id: Q16478
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Glutamate receptor ionotropic, kainate 5
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000011552
up seq anno feature ids: VSP_035585

9606:RFESD
gene id: 9606:RFESD
uniprot id: Q8TAC1
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno comments: Rieske 1
up seq anno comments: Rieske 2
up seq anno comments: Rieske domain-containing protein
up seq anno feature ids: PRO_0000313813
up seq anno feature ids: VSP_044452

9606:NUP50
gene id: 9606:NUP50
uniprot id: Q9UKX7
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 1
up seq anno comments: 2
up seq anno comments: 3
up seq anno comments: 4
up seq anno comments: 5
up seq anno comments: 5 X 2 AA repeats of F-G
up seq anno comments: Basic and acidic residues
up seq anno comments: Binding to CDKN1B
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: Nuclear pore complex protein Nup50
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: RanBD1
up seq anno comments: Removed
up seq anno feature ids: PRO_0000204868
up seq anno feature ids: VSP_040633

9606:OGFOD3
gene id: 9606:OGFOD3
uniprot id: Q6PK18
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: 2-oxoglutarate and iron-dependent oxygenase domain-containing protein 3
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Fe2OG dioxygenase
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In isoform 2.
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000325885
up seq anno feature ids: VAR_039948
up seq anno feature ids: VAR_039949
up seq anno feature ids: VSP_032462

9606:CYFIP2
gene id: 9606:CYFIP2
uniprot id: B7Z8N7
uniprot id: E7EVJ5
uniprot id: Q96F07
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: CYRIA/CYRIB Rac1 binding
up seq anno comments: Cytoplasmic FMR1-interacting protein 2
up seq anno comments: In DEE65.
up seq anno comments: In RNA edited version.
up seq anno comments: In isoform 2.
up seq anno comments: N6-acetyllysine
up seq anno feature ids: PRO_0000279709
up seq anno feature ids: VAR_030953
up seq anno feature ids: VAR_080817
up seq anno feature ids: VAR_080818
up seq anno feature ids: VAR_080819
up seq anno feature ids: VSP_052349

9606:TRRAP
gene id: 9606:TRRAP
uniprot id: Q9Y4A5
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Activation loop
up seq anno comments: Bipartite nuclear localization signal
up seq anno comments: Catalytic loop
up seq anno comments: Disordered
up seq anno comments: FAT
up seq anno comments: FATC
up seq anno comments: Found in a cutaneous malignant melanoma sample; somatic mutation; induces cell transformation and confers resistance to apoptosis.
up seq anno comments: G-loop
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In DEDDFA.
up seq anno comments: In DEDDFA; unknown pathological significance.
up seq anno comments: In DEDDFA; unknown pathological significance; also found in a colorectal adenocarcinoma sample; somatic mutation.
up seq anno comments: In DFNA75; unknown pathological significance.
up seq anno comments: In a colorectal adenocarcinoma sample; somatic mutation.
up seq anno comments: In a gastric adenocarcinoma sample; somatic mutation.
up seq anno comments: In a lung large cell carcinoma sample; somatic mutation.
up seq anno comments: In an ovarian mucinous carcinoma sample; somatic mutation.
up seq anno comments: In an ovarian serous carcinoma sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with TP53
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: PI3K/PI4K catalytic
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Removed
up seq anno comments: Transformation/transcription domain-associated protein
up seq anno feature ids: PRO_0000088851
up seq anno feature ids: VAR_028359
up seq anno feature ids: VAR_041658
up seq anno feature ids: VAR_041659
up seq anno feature ids: VAR_041660
up seq anno feature ids: VAR_041661
up seq anno feature ids: VAR_041662
up seq anno feature ids: VAR_041663
up seq anno feature ids: VAR_041664
up seq anno feature ids: VAR_041665
up seq anno feature ids: VAR_041666
up seq anno feature ids: VAR_041667
up seq anno feature ids: VAR_041668
up seq anno feature ids: VAR_041669
up seq anno feature ids: VAR_041670
up seq anno feature ids: VAR_041671
up seq anno feature ids: VAR_067754

9606:ART4
gene id: 9606:ART4
uniprot id: Q93070
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Lipid Binding
up seq anno labels: Propeptide
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Ecto-ADP-ribosyltransferase 4
up seq anno comments: GPI-anchor amidated alanine
up seq anno comments: In Do(b), Hy1 and Hy2.
up seq anno comments: In Hy1 and Hy2.
up seq anno comments: In Hy1.
up seq anno comments: In Jo(a).
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Removed in mature form
up seq anno comments: TR mART core
up seq anno feature ids: PRO_0000019329
up seq anno feature ids: PRO_0000019330
up seq anno feature ids: VAR_013707
up seq anno feature ids: VAR_013708
up seq anno feature ids: VAR_013709
up seq anno feature ids: VAR_013710
up seq anno feature ids: VAR_022266
up seq anno feature ids: VAR_022267

9606:KIF11
gene id: 9606:KIF11
uniprot id: P52732
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In MCLMR.
up seq anno comments: Kinesin motor
up seq anno comments: Kinesin-like protein KIF11
up seq anno comments: N6-acetyllysine
up seq anno comments: No mitotic phosphorylation. No binding to spindle apparatus.
up seq anno comments: Phosphoserine; by NEK6
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by CDK1
up seq anno comments: Still binds to the mitotic spindle but mitotic progression is impaired.
up seq anno feature ids: PRO_0000125372
up seq anno feature ids: VAR_049682
up seq anno feature ids: VAR_067829
up seq anno feature ids: VAR_067830
up seq anno feature ids: VAR_067831
up seq anno feature ids: VAR_067832

9606:ZNF713
gene id: 9606:ZNF713
uniprot id: Q8N859
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type 1; degenerate
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: Disordered
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 713
up seq anno feature ids: PRO_0000233285

9606:RBP7
gene id: 9606:RBP7
uniprot id: Q96R05
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Retinoid-binding protein 7
up seq anno feature ids: PRO_0000067403

9606:MGAT4A
gene id: 9606:MGAT4A
uniprot id: Q9UM21
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A
up seq anno comments: Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A soluble form
up seq anno comments: Cytoplasmic
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In isoform 2.
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine; by FAM20C
up seq anno feature ids: PRO_0000288581
up seq anno feature ids: PRO_0000288582
up seq anno feature ids: VSP_046075
up seq anno feature ids: VSP_046076
up seq anno feature ids: VSP_046077

9606:TAS2R42
gene id: 9606:TAS2R42
uniprot id: A0A0G2JPZ2
uniprot id: Q7RTR8
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Taste receptor type 2 member 42
up seq anno feature ids: PRO_0000082344
up seq anno feature ids: VAR_053352
up seq anno feature ids: VAR_053353
up seq anno feature ids: VAR_062086
up seq anno feature ids: VAR_062087
up seq anno feature ids: VAR_062088
up seq anno feature ids: VAR_062089

9606:EFCC1
gene id: 9606:EFCC1
uniprot id: Q9HA90
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: EF-hand
up seq anno comments: EF-hand and coiled-coil domain-containing protein 1
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000234510
up seq anno feature ids: VAR_050753
up seq anno feature ids: VSP_039449

9606:PDE4D
gene id: 9606:PDE4D
uniprot id: A0A140VJR0
uniprot id: Q08499
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes homodimerization.
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Decreased 3',5'-cyclic-AMP phosphodiesterase activity. Loss of Mg2(+)-binding.
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
up seq anno comments: In ACRDYS2.
up seq anno comments: In isoform 1.
up seq anno comments: In isoform 10.
up seq anno comments: In isoform 12.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 5, isoform N3 and isoform 12.
up seq anno comments: In isoform 6.
up seq anno comments: In isoform 7.
up seq anno comments: In isoform 8.
up seq anno comments: In isoform 9.
up seq anno comments: In isoform N3.
up seq anno comments: PDEase
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Proton donor
up seq anno comments: cAMP-specific 3',5'-cyclic phosphodiesterase 4D
up seq anno feature ids: PRO_0000198814
up seq anno feature ids: VAR_068242
up seq anno feature ids: VAR_068243
up seq anno feature ids: VAR_068244
up seq anno feature ids: VAR_068245
up seq anno feature ids: VAR_069448
up seq anno feature ids: VAR_069449
up seq anno feature ids: VAR_069450
up seq anno feature ids: VAR_069451
up seq anno feature ids: VAR_069452
up seq anno feature ids: VAR_069453
up seq anno feature ids: VAR_069454
up seq anno feature ids: VAR_069455
up seq anno feature ids: VSP_004577
up seq anno feature ids: VSP_004578
up seq anno feature ids: VSP_004579
up seq anno feature ids: VSP_004580

9606:LYSMD3
gene id: 9606:LYSMD3
uniprot id: A8K613
uniprot id: Q7Z3D4
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: LysM
up seq anno comments: LysM and putative peptidoglycan-binding domain-containing protein 3
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000248007
up seq anno feature ids: VSP_020125
up seq anno feature ids: VSP_020126
up seq anno feature ids: VSP_020127
up seq anno feature ids: VSP_020128

9606:RNPEPL1
gene id: 9606:RNPEPL1
uniprot id: Q9HAU8
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno comments: Aminopeptidase RNPEPL1
up seq anno comments: Disordered
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: Proton acceptor
up seq anno comments: Transition state stabilizer
up seq anno feature ids: PRO_0000095094
up seq anno feature ids: VAR_036046

9606:CCNB1IP1
gene id: 9606:CCNB1IP1
uniprot id: A0A384MR52
uniprot id: Q9NPC3
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Domain Extent
up seq anno labels: Mutagenesis Site
up seq anno labels: Zinc Finger
up seq anno comments: Abrogates induction of filamentous growth in yeast; when associated with A-28 and A-30.
up seq anno comments: Abrogates induction of filamentous growth in yeast; when associated with A-28 and A-33.
up seq anno comments: Abrogates induction of filamentous growth in yeast; when associated with A-30 and A-33.
up seq anno comments: E3 ubiquitin-protein ligase CCNB1IP1
up seq anno comments: RING-type
up seq anno comments: RING-type; atypical
up seq anno feature ids: PRO_0000055874

9606:REG1B
gene id: 9606:REG1B
uniprot id: P48304
uniprot id: Q6ICS1
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: C-type lectin
up seq anno comments: Lithostathine-1-beta
up seq anno comments: O-linked (GalNAc...) threonine
up seq anno feature ids: PRO_0000017425
up seq anno feature ids: PRO_5014310486
up seq anno feature ids: VAR_050121

9606:MORC1
gene id: 9606:MORC1
uniprot id: Q86VD1
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: CW-type
up seq anno comments: In isoform 2.
up seq anno comments: MORC family CW-type zinc finger protein 1
up seq anno feature ids: PRO_0000248241
up seq anno feature ids: VAR_051188
up seq anno feature ids: VAR_051189
up seq anno feature ids: VAR_051190
up seq anno feature ids: VAR_051191
up seq anno feature ids: VAR_051192
up seq anno feature ids: VAR_051193
up seq anno feature ids: VAR_051194
up seq anno feature ids: VAR_051195
up seq anno feature ids: VAR_051196
up seq anno feature ids: VAR_059698
up seq anno feature ids: VSP_055495

9606:ZBBX
gene id: 9606:ZBBX
uniprot id: A8MT70
uniprot id: B7ZMD2
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: B box-type; atypical
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Zinc finger B-box domain-containing protein 1
up seq anno feature ids: PRO_0000325813
up seq anno feature ids: VAR_046955
up seq anno feature ids: VAR_048400
up seq anno feature ids: VAR_048401
up seq anno feature ids: VAR_048402
up seq anno feature ids: VAR_048403
up seq anno feature ids: VAR_048404
up seq anno feature ids: VAR_048405
up seq anno feature ids: VAR_061040
up seq anno feature ids: VSP_035573
up seq anno feature ids: VSP_054851

9606:BTRC
gene id: 9606:BTRC
uniprot id: A0A0S2Z4P6
uniprot id: B2R8L3
uniprot id: B7Z3H4
uniprot id: Q68DS0
uniprot id: Q9Y297
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolished binding to DEPTOR, TFE3 and MITF substrates.
up seq anno comments: Abolished binding to TFE3 and MITF substrates.
up seq anno comments: F-box
up seq anno comments: F-box/WD repeat-containing protein 1A
up seq anno comments: Homodimerization domain D
up seq anno comments: In isoform 2.
up seq anno comments: Required for down-regulation of SNAI1
up seq anno comments: WD
up seq anno comments: WD 1
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno comments: WD 7
up seq anno feature ids: PRO_0000050980
up seq anno feature ids: VAR_020119
up seq anno feature ids: VAR_022027
up seq anno feature ids: VSP_006764

9606:IL20RB
gene id: 9606:IL20RB
uniprot id: Q6UXL0
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Fibronectin type-III 1
up seq anno comments: Fibronectin type-III 2
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Interleukin-20 receptor subunit beta
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000011038
up seq anno feature ids: VSP_054905
up seq anno feature ids: VSP_054906
up seq anno feature ids: VSP_054907

9606:SPATS2
gene id: 9606:SPATS2
uniprot id: Q86XZ4
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno comments: Disordered
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Spermatogenesis-associated serine-rich protein 2
up seq anno feature ids: PRO_0000307697

9606:RHBDL2
gene id: 9606:RHBDL2
uniprot id: B7Z1Y9
uniprot id: Q9NX52
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Abolishes protease activity, prevents processing and alters localization to the plasma membrane of N-terminal fragment.
up seq anno comments: Abolishes protease activity.
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Nucleophile
up seq anno comments: Peptidase S54 rhomboid
up seq anno comments: Reduces protease activity.
up seq anno comments: Rhomboid-related protein 2
up seq anno comments: Rhomboid-related protein 2, C-terminal fragment
up seq anno comments: Rhomboid-related protein 2, N-terminal fragment
up seq anno feature ids: PRO_0000206176
up seq anno feature ids: PRO_0000408509
up seq anno feature ids: PRO_0000408510
up seq anno feature ids: VAR_020328
up seq anno feature ids: VSP_012692

9606:KRT81
gene id: 9606:KRT81
uniprot id: Q14533
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Coil 1A
up seq anno comments: Coil 1B
up seq anno comments: Coil 2
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)
up seq anno comments: Head
up seq anno comments: IF rod
up seq anno comments: In MNLIX.
up seq anno comments: Keratin, type II cuticular Hb1
up seq anno comments: Linker 1
up seq anno comments: Linker 12
up seq anno comments: Tail
up seq anno feature ids: PRO_0000063696
up seq anno feature ids: VAR_018113
up seq anno feature ids: VAR_018114
up seq anno feature ids: VAR_018115
up seq anno feature ids: VAR_018116
up seq anno feature ids: VAR_018117
up seq anno feature ids: VAR_073048

9606:FBXO7
gene id: 9606:FBXO7
uniprot id: Q9Y3I1
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes interaction with PSMF1.
up seq anno comments: Asymmetric dimethylarginine
up seq anno comments: Disordered
up seq anno comments: F-box
up seq anno comments: F-box only protein 7
up seq anno comments: Found in two patients with Kufor-Rakeb syndrome also carrying R-877 in ATP13A2.
up seq anno comments: Impairs interaction with PRKN.
up seq anno comments: Important for dimerization and interaction with PSMF1
up seq anno comments: Important for interaction with CDK6
up seq anno comments: Important for interaction with PINK1
up seq anno comments: In PARK15; no effect on interaction with PRKN.
up seq anno comments: In PARK15; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of SIRT7 ubiquitination.
up seq anno comments: Omega-N-methylarginine
up seq anno comments: RFDP motif
up seq anno comments: Ubiquitin-like
up seq anno feature ids: PRO_0000119885
up seq anno feature ids: VAR_021408
up seq anno feature ids: VAR_047938
up seq anno feature ids: VAR_066022
up seq anno feature ids: VAR_084192
up seq anno feature ids: VSP_041073
up seq anno feature ids: VSP_041074
up seq anno feature ids: VSP_044723

9606:PPIP5K1
gene id: 9606:PPIP5K1
uniprot id: Q6PFW1
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Decreases 16-fold the affinity for PtdIns(3,4,5)P3.
up seq anno comments: Decreases 8-fold the affinity for PtdIns(3,4,5)P3.
up seq anno comments: Disordered
up seq anno comments: In isoform 2, isoform 3, isoform 4 and isoform 7.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: In isoform 7.
up seq anno comments: Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Polyphosphoinositide-binding domain
up seq anno feature ids: PRO_0000315688
up seq anno feature ids: VSP_030615
up seq anno feature ids: VSP_030616
up seq anno feature ids: VSP_030617
up seq anno feature ids: VSP_030618
up seq anno feature ids: VSP_030619
up seq anno feature ids: VSP_030620
up seq anno feature ids: VSP_030621
up seq anno feature ids: VSP_030622
up seq anno feature ids: VSP_030623
up seq anno feature ids: VSP_030624

9606:HNRNPUL2
gene id: 9606:HNRNPUL2
uniprot id: Q1KMD3
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno comments: Acidic residues
up seq anno comments: B30.2/SPRY
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Heterogeneous nuclear ribonucleoprotein U-like protein 2
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: SAP
up seq anno feature ids: PRO_0000278142

9606:UQCRHL
gene id: 9606:UQCRHL
uniprot id: A0A096LP55
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Transit Peptide
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Transit Peptide
up seq anno comments: Acidic residues
up seq anno comments: Cytochrome b-c1 complex subunit 6-like, mitochondrial
up seq anno comments: Disordered
up seq anno comments: Mitochondrion
up seq anno comments: N6-acetyllysine
up seq anno feature ids: PRO_0000435432

9606:FSCB
gene id: 9606:FSCB
uniprot id: Q5H9T9
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Fibrous sheath CABYR-binding protein
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000089952
up seq anno feature ids: VAR_035678
up seq anno feature ids: VAR_035679
up seq anno feature ids: VAR_035680
up seq anno feature ids: VAR_056874
up seq anno feature ids: VAR_056875
up seq anno feature ids: VAR_056876
up seq anno feature ids: VAR_056877
up seq anno feature ids: VAR_056878
up seq anno feature ids: VAR_056879

9606:FAHD2B
gene id: 9606:FAHD2B
uniprot id: B4DHE4
uniprot id: Q6P2I3
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno comments: Fumarylacetoacetase-like C-terminal
up seq anno comments: Fumarylacetoacetate hydrolase domain-containing protein 2B
up seq anno feature ids: PRO_0000289796

9606:RPF2
gene id: 9606:RPF2
uniprot id: Q9H7B2
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Brix
up seq anno comments: Disordered
up seq anno comments: Ribosome production factor 2 homolog
up seq anno feature ids: PRO_0000120223
up seq anno feature ids: VAR_033639
up seq anno feature ids: VAR_033640

9606:OR4D11
gene id: 9606:OR4D11
uniprot id: A0A126GVQ9
uniprot id: Q8NGI4
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 4D11
up seq anno feature ids: PRO_0000150543
up seq anno feature ids: VAR_034197

9606:GPR146
gene id: 9606:GPR146
uniprot id: A4D2Q3
uniprot id: B4DTD6
uniprot id: Q96CH1
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Probable G-protein coupled receptor 146
up seq anno feature ids: PRO_0000069622

9606:CST9
gene id: 9606:CST9
uniprot id: Q5W186
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Cystatin-9
up seq anno feature ids: PRO_0000314693
up seq anno feature ids: VAR_038045

9606:NSD1
gene id: 9606:NSD1
uniprot id: Q96L73
uniprot id: Q96MN8
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: AWS
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Histone-lysine N-methyltransferase, H3 lysine-36 specific
up seq anno comments: In SOTOS.
up seq anno comments: In SOTOS; loss of enzyme activity.
up seq anno comments: In SOTOS; strongly reduced enzyme activity.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Inhibits enzyme activity in the absence of bound histone
up seq anno comments: Nearly abolished enzyme activity.
up seq anno comments: PHD-type 1
up seq anno comments: PHD-type 2
up seq anno comments: PHD-type 3
up seq anno comments: PHD-type 4; atypical
up seq anno comments: PWWP 1
up seq anno comments: PWWP 2
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Post-SET
up seq anno comments: Pro residues
up seq anno comments: Reduced enzyme activity.
up seq anno comments: SET
up seq anno feature ids: PRO_0000186070
up seq anno feature ids: VAR_015775
up seq anno feature ids: VAR_015776
up seq anno feature ids: VAR_015777
up seq anno feature ids: VAR_015778
up seq anno feature ids: VAR_015779
up seq anno feature ids: VAR_015780
up seq anno feature ids: VAR_015781
up seq anno feature ids: VAR_015782
up seq anno feature ids: VAR_015783
up seq anno feature ids: VAR_015784
up seq anno feature ids: VAR_015785
up seq anno feature ids: VAR_015786
up seq anno feature ids: VAR_015787

9606:SEC14L3
gene id: 9606:SEC14L3
uniprot id: Q495V9
uniprot id: Q6XCI7
uniprot id: Q9UDX4
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: CRAL-TRIO
up seq anno comments: GOLD
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: SEC14-like protein 3
up seq anno feature ids: PRO_0000210758
up seq anno feature ids: VAR_022097
up seq anno feature ids: VAR_024627
up seq anno feature ids: VAR_024628
up seq anno feature ids: VAR_061787
up seq anno feature ids: VSP_045553
up seq anno feature ids: VSP_045554

9606:PARP10
gene id: 9606:PARP10
uniprot id: B4E0C4
uniprot id: E9PK67
uniprot id: E9PNI7
uniprot id: Q53GL7
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: ADP-ribosyl glutamic acid
up seq anno comments: Abolishes catalytic activity; abolishes interaction with PARP14.
up seq anno comments: Abolishes interaction with PCNA.
up seq anno comments: Decreased auto-mono-ADP-ribosylation.
up seq anno comments: Decreased catalytic activity.
up seq anno comments: Decreased interaction with PCNA.
up seq anno comments: Disordered
up seq anno comments: Does not affect catalytic activity.
up seq anno comments: Myc binding
up seq anno comments: N6-(ADP-ribosyl)lysine
up seq anno comments: N6-acetyllysine
up seq anno comments: PARP catalytic
up seq anno comments: PIP-box
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Protein mono-ADP-ribosyltransferase PARP10
up seq anno comments: Strongly decreased catalytic activity.
up seq anno comments: Ubiquitin-interacting
up seq anno feature ids: PRO_0000252435
up seq anno feature ids: VAR_027859
up seq anno feature ids: VAR_027860
up seq anno feature ids: VAR_027861

9606:SESN2
gene id: 9606:SESN2
uniprot id: P58004
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolished 'Lys-63'-linked ubiquitination by RNF167.
up seq anno comments: About two-fold prolonged half-life in cycloheximide/CHX time course.
up seq anno comments: Basic and acidic residues
up seq anno comments: C-terminal domain; mediates TORC1 regulation
up seq anno comments: Cysteine sulfenic acid (-SOH) intermediate
up seq anno comments: Decreased affinity for leucine. Requires increased leucine concentration to dissociate from GATOR2 and activate TORC1 signaling.
up seq anno comments: Decreased alkylhydroperoxide reductase activity and loss of the ability to decrease intracellular reactive oxygen species. No effect on interaction with the GATOR2 complex. No effect on inhibition of TOR signaling.
up seq anno comments: Decreased alkylhydroperoxide reductase activity. No effect on the ability to inhibit the TORC1 signaling pathway.
up seq anno comments: Decreased leucine-binding.
up seq anno comments: Decreased leucine-binding. Promotes interaction with RNF167.
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Loss of interaction with GATOR2. No effect on leucine-binding. Unable to mediate leucine-induced inhibition of the TORC1 signaling pathway.
up seq anno comments: Loss of interaction with the GATOR2 complex. No effect on leucine-binding.
up seq anno comments: Loss of leucine-binding.
up seq anno comments: Loss of leucine-binding. Constitutively interacts with the GATOR2 complex.
up seq anno comments: Loss of leucine-binding. Promotes interaction with RNF167. Constitutively interacts with the GATOR2 complex.
up seq anno comments: N-acetylmethionine
up seq anno comments: N-terminal domain; mediates the alkylhydroperoxide reductase activity
up seq anno comments: No effect on ability to decrease intracellular reactive oxygen species.
up seq anno comments: No effect on alkylhydroperoxide reductase activity.
up seq anno comments: No effect on alkylhydroperoxide reductase activity. Altered ability to decrease intracellular reactive oxygen species. No effect on the ability to inhibit the TORC1 signaling pathway.
up seq anno comments: No effect on alkylhydroperoxide reductase activity. Loss of interaction with the GATOR2 complex. Unable to inhibit the TORC1 signaling pathway.
up seq anno comments: No effect on alkylhydroperoxide reductase activity. No effect on the ability to inhibit the TORC1 signaling pathway.
up seq anno comments: No effect on the ability to inhibit the TORC1 signaling pathway.
up seq anno comments: No effect on the ability to inhibit the TORC1 signaling pathway; when associated with A-373.
up seq anno comments: No effect on the ability to inhibit the TORC1 signaling pathway; when associated with A-376.
up seq anno comments: No effect on the ability to inhibit the TORC1 signaling pathway; when associated with A-385.
up seq anno comments: No effect on the ability to inhibit the TORC1 signaling pathway; when associated with A-387.
up seq anno comments: No effect on the ability to inhibit the TORC1 signaling pathway; when associated with A-409 and A-411.
up seq anno comments: No effect on the ability to inhibit the TORC1 signaling pathway; when associated with A-409 and A-415.
up seq anno comments: No effect on the ability to inhibit the TORC1 signaling pathway; when associated with A-411 and A-415.
up seq anno comments: No effect on the ability to inhibit the TORC1 signaling pathway; when associated with A-419 and A-422.
up seq anno comments: No effect on the ability to inhibit the TORC1 signaling pathway; when associated with A-419 and A-426.
up seq anno comments: No effect on the ability to inhibit the TORC1 signaling pathway; when associated with A-422 and A-426.
up seq anno comments: No effect on the ability to inhibit the TORC1 signaling pathway; when associated with C-128.
up seq anno comments: No effect on the ability to inhibit the TORC1 signaling pathway; when associated with E-113.
up seq anno comments: No effect on the ability to inhibit the TORC1 signaling pathway; when associated with L-259 and R-261.
up seq anno comments: No effect on the ability to inhibit the TORC1 signaling pathway; when associated with R-258 and L-259.
up seq anno comments: No effect on the ability to inhibit the TORC1 signaling pathway; when associated with R-258 and R-261.
up seq anno comments: Phosphoserine
up seq anno comments: Sestrin-2
up seq anno feature ids: PRO_0000221181
up seq anno feature ids: VAR_022101

9606:SNTG2
gene id: 9606:SNTG2
uniprot id: Q9NY99
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: Gamma-2-syntrophin
up seq anno comments: In isoform 2.
up seq anno comments: PDZ
up seq anno comments: PH
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000184015
up seq anno feature ids: VAR_034501
up seq anno feature ids: VAR_034502
up seq anno feature ids: VAR_034503
up seq anno feature ids: VSP_039175

9606:TMEM178B
gene id: 9606:TMEM178B
uniprot id: H3BS89
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Signal Peptide
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Transmembrane protein 178B
up seq anno feature ids: PRO_0000419261

9606:C1R
gene id: 9606:C1R
uniprot id: P00736
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: (3R)-3-hydroxyasparagine
up seq anno comments: CUB 1
up seq anno comments: CUB 2
up seq anno comments: Charge relay system
up seq anno comments: Complement C1r subcomponent
up seq anno comments: Complement C1r subcomponent heavy chain
up seq anno comments: Complement C1r subcomponent light chain
up seq anno comments: Confirmed at protein level.
up seq anno comments: EGF-like; calcium-binding
up seq anno comments: In EDSPD1.
up seq anno comments: In EDSPD1; requires 2 nucleotide substitutions; the mutant is not secreted but retained intracellularly.
up seq anno comments: In EDSPD1; the mutant is not secreted but retained intracellularly.
up seq anno comments: In EDSPD1; unknown pathological significance.
up seq anno comments: Interchain (between heavy and light chains)
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Peptidase S1
up seq anno comments: Phosphoserine; by CK2
up seq anno comments: Sushi 1
up seq anno comments: Sushi 2
up seq anno feature ids: PRO_0000027577
up seq anno feature ids: PRO_0000027578
up seq anno feature ids: PRO_0000027579
up seq anno feature ids: VAR_016103
up seq anno feature ids: VAR_018667
up seq anno feature ids: VAR_018668
up seq anno feature ids: VAR_018669
up seq anno feature ids: VAR_018670
up seq anno feature ids: VAR_047933
up seq anno feature ids: VAR_077106
up seq anno feature ids: VAR_077107
up seq anno feature ids: VAR_077108
up seq anno feature ids: VAR_077109
up seq anno feature ids: VAR_077110
up seq anno feature ids: VAR_077111
up seq anno feature ids: VAR_077112
up seq anno feature ids: VAR_077113
up seq anno feature ids: VAR_077114
up seq anno feature ids: VAR_077115
up seq anno feature ids: VAR_077116
up seq anno feature ids: VAR_077117
up seq anno feature ids: VAR_077118
up seq anno feature ids: VAR_077119

9606:LRRC74A
gene id: 9606:LRRC74A
uniprot id: Q0VAA2
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Repeat
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: LRR 1
up seq anno comments: LRR 2
up seq anno comments: LRR 3
up seq anno comments: LRR 4
up seq anno comments: LRR 5
up seq anno comments: LRR 6
up seq anno comments: LRR 7
up seq anno comments: LRR 8
up seq anno comments: Leucine-rich repeat-containing protein 74A
up seq anno feature ids: PRO_0000306172
up seq anno feature ids: VSP_028425
up seq anno feature ids: VSP_028426
up seq anno feature ids: VSP_028427

9606:ACTR10
gene id: 9606:ACTR10
uniprot id: Q9NZ32
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Sequence Conflict
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno comments: Actin-related protein 10
up seq anno feature ids: PRO_0000089131

9606:MMP20
gene id: 9606:MMP20
uniprot id: O60882
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Helix
up seq anno labels: Motif
up seq anno labels: Propeptide
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Cysteine switch
up seq anno comments: Hemopexin 1
up seq anno comments: Hemopexin 2
up seq anno comments: Hemopexin 3
up seq anno comments: Hemopexin 4
up seq anno comments: Matrix metalloproteinase-20
up seq anno comments: in inhibited form
up seq anno feature ids: PRO_0000028833
up seq anno feature ids: PRO_0000028834
up seq anno feature ids: VAR_020511
up seq anno feature ids: VAR_020512
up seq anno feature ids: VAR_020513
up seq anno feature ids: VAR_020514
up seq anno feature ids: VAR_057802

9606:PTGS2
gene id: 9606:PTGS2
uniprot id: P35354
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes enzyme activity.
up seq anno comments: Aspirin-acetylated serine
up seq anno comments: Decreased enzyme activity with arachidonic acid. Loss of cyclooxygenase activity; when associated with V-519.
up seq anno comments: Decreased protein stability. Increased decrease of protein stability; when associated with A-516.
up seq anno comments: Does not affect activation by nitric oxid (NO).
up seq anno comments: EGF-like
up seq anno comments: For cyclooxygenase activity
up seq anno comments: Impairs two-electron hydroperoxide reduction and cyclooxygenase activity.
up seq anno comments: Impairs two-electron hydroperoxide reduction.
up seq anno comments: Increases two-electron hydroperoxide reduction. Has no effect on cyclooxygenase activity.
up seq anno comments: Loss of cyclooxygenase activity. Loss of cyclooxygenase activity; when associated with T-516.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No effect on protein stability. Increased decrease of protein stability; when associated with A-371.
up seq anno comments: O-acetylserine
up seq anno comments: Prevents activation by nitric oxid (NO).
up seq anno comments: Prostaglandin G/H synthase 2
up seq anno comments: Proton acceptor
up seq anno comments: Reduces two-electron hydroperoxide reduction and cyclooxygenase activity. Catalyzes predominantly one-electron hydroperoxide reduction.
up seq anno comments: S-nitrosocysteine
up seq anno comments: axial binding residue
up seq anno feature ids: PRO_0000023875
up seq anno feature ids: VAR_011980
up seq anno feature ids: VAR_011981
up seq anno feature ids: VAR_016262
up seq anno feature ids: VAR_016263
up seq anno feature ids: VAR_016264

9606:H2BC4
gene id: 9606:H2BC4
uniprot id: B2R4S9
uniprot id: P62807
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno comments: ADP-ribosyl glutamic acid
up seq anno comments: ADP-ribosylserine
up seq anno comments: Basic residues
up seq anno comments: Dimethylated arginine
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
up seq anno comments: Histone H2A/H2B/H3
up seq anno comments: Histone H2B type 1-C/E/F/G/I
up seq anno comments: N-acetylproline
up seq anno comments: N6,N6,N6-trimethyllysine; alternate
up seq anno comments: N6,N6-dimethyllysine; alternate
up seq anno comments: N6-(2-hydroxyisobutyryl)lysine
up seq anno comments: N6-(2-hydroxyisobutyryl)lysine; alternate
up seq anno comments: N6-(beta-hydroxybutyryl)lysine; alternate
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-butyryllysine; alternate
up seq anno comments: N6-crotonyllysine; alternate
up seq anno comments: N6-glutaryllysine; alternate
up seq anno comments: N6-lactoyllysine; alternate
up seq anno comments: N6-malonyllysine; alternate
up seq anno comments: N6-methylated lysine; alternate
up seq anno comments: N6-methyllysine; alternate
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: O-linked (GlcNAc) serine
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine; by AMPK
up seq anno comments: Phosphoserine; by STK4/MST1
up seq anno comments: Phosphothreonine
up seq anno comments: PolyADP-ribosyl glutamic acid
up seq anno comments: Removed
up seq anno feature ids: PRO_0000071826
up seq anno feature ids: VAR_055887

9606:SPHK2
gene id: 9606:SPHK2
uniprot id: B3KV83
uniprot id: E9PCV4
uniprot id: Q9NRA0
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Abolishes cleavage and secretion in apoptotic cells. No effect on kinase activity.
up seq anno comments: Abolishes nuclear export in response to PMA treatment.
up seq anno comments: Abolishes nuclear export.
up seq anno comments: Abolishes phosphorylation.
up seq anno comments: Basic and acidic residues
up seq anno comments: DAGKc
up seq anno comments: Decreases SPP production in nucleus. Abolishes increase of histone acetylation. No effect on association with histone 3.
up seq anno comments: Disordered
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: Loss of location to cell membrane. Not secreted. No effect on kinase activity.
up seq anno comments: No effect on cleavage and secretion in apoptotic cells. No effect on kinase activity.
up seq anno comments: Nuclear export signal
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by MAPK
up seq anno comments: Phosphoserine; by PKD
up seq anno comments: Phosphothreonine; by MAPK
up seq anno comments: Proton donor/acceptor
up seq anno comments: Reduces phosphorylation levels.
up seq anno comments: Required for binding to sulfatide and phosphoinositides and for membrane localizatione
up seq anno comments: Sphingosine kinase 2
up seq anno comments: Strongly reduces phosphorylation levels.
up seq anno feature ids: PRO_0000181358
up seq anno feature ids: VAR_060112
up seq anno feature ids: VSP_006217
up seq anno feature ids: VSP_006218
up seq anno feature ids: VSP_046910
up seq anno feature ids: VSP_047721
up seq anno feature ids: VSP_047722

9606:PRRG2
gene id: 9606:PRRG2
uniprot id: O14669
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: 4-carboxyglutamate
up seq anno comments: Abolishes gamma-carboxylation.
up seq anno comments: Abolishes interaction with YAP1.
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Gla
up seq anno comments: Helical
up seq anno comments: Impairs propeptide removal.
up seq anno comments: LPXY motif; mediates binding to WW domain-containing proteins
up seq anno comments: No effect on interaction with YAP1.
up seq anno comments: PPXY motif; mediates binding to WW domain-containing proteins
up seq anno comments: Pro residues
up seq anno comments: Significantly impairs interaction with YAP1.
up seq anno comments: Transmembrane gamma-carboxyglutamic acid protein 2
up seq anno feature ids: PRO_0000022543
up seq anno feature ids: PRO_0000022544
up seq anno feature ids: VAR_020332
up seq anno feature ids: VAR_051442

9606:MS4A4A
gene id: 9606:MS4A4A
uniprot id: A0A384MDW1
uniprot id: Q4JF27
uniprot id: Q96JQ5
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Membrane-spanning 4-domains subfamily A member 4A
up seq anno feature ids: PRO_0000158634
up seq anno feature ids: VAR_024540
up seq anno feature ids: VAR_053517
up seq anno feature ids: VAR_062123
up seq anno feature ids: VSP_007380

9606:HOXD4
gene id: 9606:HOXD4
uniprot id: P09016
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Antp-type hexapeptide
up seq anno comments: Disordered
up seq anno comments: Homeobox
up seq anno comments: Homeobox protein Hox-D4
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000200210
up seq anno feature ids: VAR_067445

9606:CD22
gene id: 9606:CD22
uniprot id: P20273
uniprot id: Q0EAF5
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: B-cell receptor CD22
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: ITIM motif 1
up seq anno comments: ITIM motif 2
up seq anno comments: ITIM motif 3
up seq anno comments: ITIM motif 4
up seq anno comments: Ig-like
up seq anno comments: Ig-like C2-type 1
up seq anno comments: Ig-like C2-type 2
up seq anno comments: Ig-like C2-type 3
up seq anno comments: Ig-like C2-type 4
up seq anno comments: Ig-like C2-type 5
up seq anno comments: Ig-like C2-type 6
up seq anno comments: Ig-like V-type
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform CD22-alpha.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Observed with a marginally higher frequency in patients with systemic lupus erythematosus.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno feature ids: PRO_0000014873
up seq anno feature ids: PRO_5014306732
up seq anno feature ids: VAR_003913
up seq anno feature ids: VAR_003914
up seq anno feature ids: VAR_003915
up seq anno feature ids: VAR_003916
up seq anno feature ids: VAR_014133
up seq anno feature ids: VAR_014134
up seq anno feature ids: VAR_014135
up seq anno feature ids: VAR_049903
up seq anno feature ids: VSP_002531
up seq anno feature ids: VSP_045363
up seq anno feature ids: VSP_047223
up seq anno feature ids: VSP_047224

9606:TFB1M
gene id: 9606:TFB1M
uniprot id: E5KTM5
uniprot id: Q8WVM0
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: Abolishes methyltransferase activity, DNA-binding and SAM-binding. Does not abolish transcription activator function.
up seq anno comments: Abolishes methyltransferase activity. Does not affect SAM-binding, DNA-binding nor transcription activator function.
up seq anno comments: Dimethyladenosine transferase 1, mitochondrial
up seq anno comments: Does not affect SAM-binding, DNA-binding nor transcription activator function.
up seq anno comments: Mitochondrion
up seq anno comments: Ribosomal RNA adenine methylase transferase N-terminal
up seq anno feature ids: PRO_0000273171
up seq anno feature ids: VAR_071246
up seq anno feature ids: VAR_071247
up seq anno feature ids: VAR_071248

9606:RIT2
gene id: 9606:RIT2
uniprot id: Q99578
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: GTP-binding protein Rit2
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000082727
up seq anno feature ids: VSP_018102
up seq anno feature ids: VSP_018103

9606:FBLN7
gene id: 9606:FBLN7
uniprot id: Q53RD9
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: EGF-like 1; calcium-binding
up seq anno comments: EGF-like 2; calcium-binding
up seq anno comments: EGF-like 3; calcium-binding
up seq anno comments: Fibulin-7
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Sushi
up seq anno feature ids: PRO_0000313655
up seq anno feature ids: VAR_037689
up seq anno feature ids: VSP_030084
up seq anno feature ids: VSP_030085
up seq anno feature ids: VSP_030086

9606:IRX2
gene id: 9606:IRX2
uniprot id: Q9BZI1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Homeobox; TALE-type
up seq anno comments: Iroquois-class homeodomain protein IRX-2
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000049153

9606:ENOSF1
gene id: 9606:ENOSF1
uniprot id: Q7L5Y1
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Impairs protein solubility. Abolishes catalytic activity.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4 and isoform 5.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: In isoform 7.
up seq anno comments: Mitochondrial enolase superfamily member 1
up seq anno comments: Phosphoserine
up seq anno comments: Proton donor/acceptor
up seq anno feature ids: PRO_0000331652
up seq anno feature ids: VAR_042933
up seq anno feature ids: VAR_042934
up seq anno feature ids: VAR_042935
up seq anno feature ids: VSP_033311
up seq anno feature ids: VSP_033312
up seq anno feature ids: VSP_033313
up seq anno feature ids: VSP_033314
up seq anno feature ids: VSP_047153
up seq anno feature ids: VSP_047154
up seq anno feature ids: VSP_055241
up seq anno feature ids: VSP_055242
up seq anno feature ids: VSP_055243

9606:RNF121
gene id: 9606:RNF121
uniprot id: C9JQY5
uniprot id: Q9H920
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno labels: Zinc Finger
up seq anno comments: E3 ubiquitin ligase RNF121
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylalanine
up seq anno comments: RING-type; atypical
up seq anno comments: Removed
up seq anno feature ids: PRO_0000261407
up seq anno feature ids: VSP_054133

9606:OR13C3
gene id: 9606:OR13C3
uniprot id: A0A126GVY9
uniprot id: Q8NGS6
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 13C3
up seq anno feature ids: PRO_0000150732
up seq anno feature ids: VAR_024131

9606:MAU2
gene id: 9606:MAU2
uniprot id: Q9Y6X3
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Found in a patient with CDLS1; unknown pathological significance; no effect on interaction with NIBPL.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: MAU2 chromatid cohesion factor homolog
up seq anno comments: Sufficient for interaction with NIPBL
up seq anno comments: TPR 1
up seq anno comments: TPR 2
up seq anno comments: TPR 3
up seq anno comments: TPR 4
up seq anno feature ids: PRO_0000254548
up seq anno feature ids: VAR_073019
up seq anno feature ids: VSP_021223
up seq anno feature ids: VSP_021224
up seq anno feature ids: VSP_021225
up seq anno feature ids: VSP_021226

9606:PCP2
gene id: 9606:PCP2
uniprot id: Q8IVA1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: GoLoco 1
up seq anno comments: GoLoco 2
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Purkinje cell protein 2 homolog
up seq anno feature ids: PRO_0000058260
up seq anno feature ids: VSP_055654

9606:ZMYND19
gene id: 9606:ZMYND19
uniprot id: Q96E35
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Site
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Zinc Finger
up seq anno comments: MYND-type; degenerate
up seq anno comments: Zinc finger MYND domain-containing protein 19
up seq anno feature ids: PRO_0000218319

9606:CTR9
gene id: 9606:CTR9
uniprot id: Q6PD62
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: RNA polymerase-associated protein CTR9 homolog
up seq anno comments: TPR 1
up seq anno comments: TPR 10
up seq anno comments: TPR 11
up seq anno comments: TPR 12
up seq anno comments: TPR 13
up seq anno comments: TPR 14
up seq anno comments: TPR 15
up seq anno comments: TPR 16
up seq anno comments: TPR 2
up seq anno comments: TPR 3
up seq anno comments: TPR 4
up seq anno comments: TPR 5
up seq anno comments: TPR 6
up seq anno comments: TPR 7
up seq anno comments: TPR 8
up seq anno comments: TPR 9
up seq anno feature ids: PRO_0000231588

9606:ANKRD42
gene id: 9606:ANKRD42
uniprot id: A1DRY3
uniprot id: A1XPJ0
uniprot id: E9PIL2
uniprot id: E9PKE2
uniprot id: E9PP91
uniprot id: F8W6I9
uniprot id: Q8N9B4
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: ANK
up seq anno comments: ANK 1
up seq anno comments: ANK 2
up seq anno comments: ANK 3
up seq anno comments: ANK 4
up seq anno comments: ANK 5
up seq anno comments: ANK 6
up seq anno comments: ANK 7
up seq anno comments: ANK 8
up seq anno comments: ANK 9
up seq anno comments: Ankyrin repeat domain-containing protein 42
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000244371
up seq anno feature ids: VAR_028366
up seq anno feature ids: VSP_019559
up seq anno feature ids: VSP_019560
up seq anno feature ids: VSP_019561

9606:SHISA9
gene id: 9606:SHISA9
uniprot id: B4DS77
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: Protein shisa-9
up seq anno feature ids: PRO_0000392536
up seq anno feature ids: VSP_038817
up seq anno feature ids: VSP_038818
up seq anno feature ids: VSP_038819

9606:PGA4
gene id: 9606:PGA4
uniprot id: A0A1S5UZ02
uniprot id: B7Z719
uniprot id: P0DJD7
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Propeptide
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Activation peptide
up seq anno comments: Pepsin A-4
up seq anno comments: Peptidase A1
up seq anno comments: Phosphoserine
up seq anno comments: pepsin A
up seq anno feature ids: PRO_0000415757
up seq anno feature ids: PRO_0000415758
up seq anno feature ids: PRO_5013265911
up seq anno feature ids: PRO_5014274681

9606:ZNF567
gene id: 9606:ZNF567
uniprot id: B2R956
uniprot id: B4E0D0
uniprot id: Q8N184
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 12
up seq anno comments: C2H2-type 13
up seq anno comments: C2H2-type 14
up seq anno comments: C2H2-type 15
up seq anno comments: C2H2-type 1; degenerate
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 1.
up seq anno comments: In isoform 2.
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 567
up seq anno feature ids: PRO_0000047658
up seq anno feature ids: VSP_016383
up seq anno feature ids: VSP_016384

9606:CLDN14
gene id: 9606:CLDN14
uniprot id: O95500
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Claudin-14
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In DFNB29.
up seq anno feature ids: PRO_0000144769
up seq anno feature ids: VAR_010738
up seq anno feature ids: VAR_017227
up seq anno feature ids: VAR_069979
up seq anno feature ids: VAR_069980
up seq anno feature ids: VAR_069981
up seq anno feature ids: VAR_069982
up seq anno feature ids: VAR_069983

9606:DYNC2I1
gene id: 9606:DYNC2I1
uniprot id: A0A140VK66
uniprot id: Q8WVS4
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Binding to the DYNLT2B-DYNLT1/DYNLT3 dimer
up seq anno comments: Cytoplasmic dynein 2 intermediate chain 1
up seq anno comments: Disordered
up seq anno comments: In SRTD8.
up seq anno comments: In SRTD8; Reduces interaction with IFT proteins.
up seq anno comments: In SRTD8; does not affect interaction with DYNC2I2.
up seq anno comments: Phosphoserine
up seq anno comments: WD 1
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno feature ids: PRO_0000242142
up seq anno feature ids: VAR_026841
up seq anno feature ids: VAR_026842
up seq anno feature ids: VAR_070197
up seq anno feature ids: VAR_079178
up seq anno feature ids: VAR_083839

9606:ZNF683
gene id: 9606:ZNF683
uniprot id: Q8IZ20
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3; degenerate
up seq anno comments: C2H2-type 4
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Tissue-resident T-cell transcription regulator protein ZNF683
up seq anno feature ids: PRO_0000234002
up seq anno feature ids: VAR_026155
up seq anno feature ids: VAR_057442
up seq anno feature ids: VAR_057443
up seq anno feature ids: VAR_057444
up seq anno feature ids: VAR_057445
up seq anno feature ids: VSP_018167

9606:MARF1
gene id: 9606:MARF1
uniprot id: Q9Y4F3
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: HTH OST-type 1
up seq anno comments: HTH OST-type 2
up seq anno comments: HTH OST-type 3
up seq anno comments: HTH OST-type 4
up seq anno comments: HTH OST-type 5
up seq anno comments: HTH OST-type 6
up seq anno comments: HTH OST-type 7
up seq anno comments: HTH OST-type 8
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: Meiosis regulator and mRNA stability factor 1
up seq anno comments: NYN
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: RRM
up seq anno feature ids: PRO_0000276846
up seq anno feature ids: VSP_022988
up seq anno feature ids: VSP_037755
up seq anno feature ids: VSP_037756
up seq anno feature ids: VSP_037757
up seq anno feature ids: VSP_037758
up seq anno feature ids: VSP_037759

9606:SLAIN2
gene id: 9606:SLAIN2
uniprot id: A0A024R9T6
uniprot id: Q9P270
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Site
up seq anno comments: Abolishes interaction with CLIP1.
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Important for interaction with CLIP1
up seq anno comments: N-acetylmethionine
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: SLAIN motif-containing protein 2
up seq anno feature ids: PRO_0000316965

9606:POM121L12
gene id: 9606:POM121L12
uniprot id: Q8N7R1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: POM121-like protein 12
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000348453
up seq anno feature ids: VAR_046180
up seq anno feature ids: VAR_046181
up seq anno feature ids: VAR_046182

9606:SCNN1D
gene id: 9606:SCNN1D
uniprot id: P51172
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Amiloride-sensitive sodium channel subunit delta
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: In isoform 1.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000181282
up seq anno feature ids: VAR_028209
up seq anno feature ids: VAR_028210
up seq anno feature ids: VAR_028211
up seq anno feature ids: VAR_028212
up seq anno feature ids: VAR_028213
up seq anno feature ids: VAR_028214
up seq anno feature ids: VSP_060000
up seq anno feature ids: VSP_060001
up seq anno feature ids: VSP_060002

9606:TMEM229B
gene id: 9606:TMEM229B
uniprot id: Q8NBD8
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Transmembrane protein 229B
up seq anno feature ids: PRO_0000263681

9606:MTRES1
gene id: 9606:MTRES1
uniprot id: A0A0D9SEI0
uniprot id: Q9P0P8
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Transit Peptide
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Transit Peptide
up seq anno comments: Acidic residues
up seq anno comments: Decreased RNA-binding; when associated with A-143; A-145: A-149 and A-156. Does not rescue diminished mitochondrial transcription induced by EtBr; when associated with A-143; A-145: A-149 and A-156.
up seq anno comments: Decreased RNA-binding; when associated with A-143; A-145: A-149 and A-158. Does not rescue diminished mitochondrial transcription induced by EtBr; when associated with A-143; A-145: A-149 and A-158.
up seq anno comments: Decreased RNA-binding; when associated with A-143; A-145: A-156 and A-158. Does not rescue diminished mitochondrial transcription induced by EtBr; when associated with A-143; A-149: A-156 and A-158.
up seq anno comments: Decreased RNA-binding; when associated with A-143; A-149: A-156 and A-158. Does not rescue diminished mitochondrial transcription induced by EtBr; when associated with A-143; A-149: A-156 and A-158.
up seq anno comments: Decreased RNA-binding; when associated with A-145; A-149: A-156 and A-158. Does not rescue diminished mitochondrial transcription induced by EtBr; when associated with A-145; A-149: A-156 and A-158.
up seq anno comments: Disordered
up seq anno comments: Mitochondrial transcription rescue factor 1
up seq anno comments: Mitochondrion
up seq anno comments: Phosphoserine
up seq anno comments: S4 RNA-binding
up seq anno feature ids: PRO_0000089559

9606:C15orf39
gene id: 9606:C15orf39
uniprot id: Q6ZRI6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Uncharacterized protein C15orf39
up seq anno feature ids: PRO_0000244343
up seq anno feature ids: VAR_026891
up seq anno feature ids: VAR_026892
up seq anno feature ids: VAR_026893
up seq anno feature ids: VAR_026894
up seq anno feature ids: VSP_019538
up seq anno feature ids: VSP_019539
up seq anno feature ids: VSP_019540
up seq anno feature ids: VSP_019541

9606:RTP2
gene id: 9606:RTP2
uniprot id: Q5QGT7
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Zinc Finger
up seq anno comments: 3CxxC-type
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Receptor-transporting protein 2
up seq anno feature ids: PRO_0000181991
up seq anno feature ids: VAR_021488

9606:SLC16A12
gene id: 9606:SLC16A12
uniprot id: Q6ZSM3
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Abolishes creatine efflux activity. Does not affect plasma membrane localization.
up seq anno comments: Cytoplasmic
up seq anno comments: Decreases creatine efflux activity. Loss of localization to the plasma membrane.
up seq anno comments: Decreases in the creatine efflux activity. Does not affect plasma membrane localization.
up seq anno comments: Does not affect creatine efflux activity.
up seq anno comments: Does not affect creatine efflux activity. Does not affect plasma membrane localization.
up seq anno comments: Found in a patient with age-related cataract; unknown pathological significance; decreases creatine transport.
up seq anno comments: Helical
up seq anno comments: In CTRCT47; loss of localization to the plasma membrane; retained in the endoplasmic reticulum where it undergoes degradation by the proteasome; has no dominant effect on wild-type protein expression and localization.
up seq anno comments: Monocarboxylate transporter 12
up seq anno feature ids: PRO_0000286675
up seq anno feature ids: VAR_071890
up seq anno feature ids: VAR_080957

9606:DCC
gene id: 9606:DCC
uniprot id: P43146
uniprot id: Q49AK4
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Abolishes interaction with MYO10.
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Fibronectin type-III
up seq anno comments: Fibronectin type-III 1
up seq anno comments: Fibronectin type-III 2
up seq anno comments: Fibronectin type-III 3
up seq anno comments: Fibronectin type-III 4
up seq anno comments: Fibronectin type-III 5
up seq anno comments: Fibronectin type-III 6
up seq anno comments: Helical
up seq anno comments: Ig-like
up seq anno comments: Ig-like C2-type 1
up seq anno comments: Ig-like C2-type 2
up seq anno comments: Ig-like C2-type 3
up seq anno comments: Ig-like C2-type 4
up seq anno comments: In HGPPS2; unknown pathological significance.
up seq anno comments: In MRMV1.
up seq anno comments: In MRMV1; unknown pathological significance.
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In a colorectal carcinoma.
up seq anno comments: In a esophageal carcinoma.
up seq anno comments: Interaction with MYO10
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Netrin receptor DCC
up seq anno comments: Phosphoserine; by MAPK1
up seq anno comments: Phosphothreonine; by MAPK1
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000014744
up seq anno feature ids: VAR_003909
up seq anno feature ids: VAR_003910
up seq anno feature ids: VAR_003911
up seq anno feature ids: VAR_024495
up seq anno feature ids: VAR_035511
up seq anno feature ids: VAR_056043
up seq anno feature ids: VAR_060257
up seq anno feature ids: VAR_060258

9606:OR1B1
gene id: 9606:OR1B1
uniprot id: Q8NGR6
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 1B1
up seq anno feature ids: PRO_0000150416
up seq anno feature ids: VAR_053114
up seq anno feature ids: VAR_053115
up seq anno feature ids: VAR_053116
up seq anno feature ids: VAR_053117

9606:C4A
gene id: 9606:C4A
uniprot id: P0C0L4
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Propeptide
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Anaphylatoxin-like
up seq anno comments: C4a anaphylatoxin
up seq anno comments: C4b-A
up seq anno comments: C4d-A
up seq anno comments: Complement C4 beta chain
up seq anno comments: Complement C4 gamma chain
up seq anno comments: Complement C4-A alpha chain
up seq anno comments: In allotype C4A1, allotype C4A13.
up seq anno comments: In allotype C4A1, allotype C4A2.
up seq anno comments: In allotype C4A1, allotype C4A3a, allotype C4A6.
up seq anno comments: In allotype C4A1.
up seq anno comments: In allotype C4A3a, allotype C4A6.
up seq anno comments: In allotype C4A3a.
up seq anno comments: In allotype C4A4.
up seq anno comments: In allotype C4A6.
up seq anno comments: In isoform 2.
up seq anno comments: Isoglutamyl cysteine thioester (Cys-Gln)
up seq anno comments: N-linked (GlcNAc...) (complex) asparagine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: NTR
up seq anno comments: O-linked (GalNAc...) threonine
up seq anno comments: Phosphoserine; by FAM20C
up seq anno comments: Responsible for effective binding to form amide bonds with immune aggregates or protein antigens
up seq anno comments: Sulfotyrosine
up seq anno feature ids: PRO_0000005966
up seq anno feature ids: PRO_0000005967
up seq anno feature ids: PRO_0000005968
up seq anno feature ids: PRO_0000005969
up seq anno feature ids: PRO_0000005970
up seq anno feature ids: PRO_0000005971
up seq anno feature ids: PRO_0000005972
up seq anno feature ids: PRO_0000042698
up seq anno feature ids: VAR_001987
up seq anno feature ids: VAR_001988
up seq anno feature ids: VAR_001992
up seq anno feature ids: VAR_001993
up seq anno feature ids: VAR_001994
up seq anno feature ids: VAR_001995
up seq anno feature ids: VAR_019778
up seq anno feature ids: VAR_019779
up seq anno feature ids: VAR_019780
up seq anno feature ids: VAR_069154

9606:NAA50
gene id: 9606:NAA50
uniprot id: E7EQ69
uniprot id: Q9GZZ1
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes N-alpha-acetyltransferase activity.
up seq anno comments: Decreased acetylation; when associated with 34-A-A-37.
up seq anno comments: Decreased acetylation; when associated with A-140.
up seq anno comments: In isoform 2.
up seq anno comments: N-acetyltransferase
up seq anno comments: N-alpha-acetyltransferase 50
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; by autocatalysis
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Reduces N-alpha-acetyltransferase activity.
up seq anno comments: Restores the acetylation activity of the NatA complex.
up seq anno comments: Strongly decreased N-alpha-acetyltransferase activity.
up seq anno comments: Strongly decreased N-alpha-acetyltransferase activity. Impaired sister chromatid cohesion during mitosis.
up seq anno feature ids: PRO_0000284902
up seq anno feature ids: VSP_024747

9606:TNNC2
gene id: 9606:TNNC2
uniprot id: C9J7T9
uniprot id: P02585
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno comments: EF-hand
up seq anno comments: EF-hand 1
up seq anno comments: EF-hand 2
up seq anno comments: EF-hand 3
up seq anno comments: EF-hand 4
up seq anno comments: In CMYP15; affects regulation of muscle contraction.
up seq anno comments: N-acetylthreonine
up seq anno comments: Removed
up seq anno comments: Troponin C, skeletal muscle
up seq anno feature ids: PRO_0000073703
up seq anno feature ids: VAR_087978
up seq anno feature ids: VAR_087979

9606:ARPC2
gene id: 9606:ARPC2
uniprot id: O15144
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Sequence Conflict
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno comments: Actin-related protein 2/3 complex subunit 2
up seq anno comments: N6-acetyllysine
up seq anno feature ids: PRO_0000124033

9606:ZNF628
gene id: 9606:ZNF628
uniprot id: Q5EBL2
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Zinc Finger
up seq anno comments: 1
up seq anno comments: 2
up seq anno comments: 3
up seq anno comments: 4
up seq anno comments: 4 X approximate tandem repeats
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 12
up seq anno comments: C2H2-type 13
up seq anno comments: C2H2-type 14
up seq anno comments: C2H2-type 15
up seq anno comments: C2H2-type 16
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: Disordered
up seq anno comments: Interaction with TAF4B
up seq anno comments: Phosphothreonine
up seq anno comments: Pro residues
up seq anno comments: Zinc finger protein 628
up seq anno feature ids: PRO_0000246070

9606:GPR88
gene id: 9606:GPR88
uniprot id: Q9GZN0
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Probable G-protein coupled receptor 88
up seq anno feature ids: PRO_0000069597
up seq anno feature ids: VAR_054767
up seq anno feature ids: VAR_054768

9606:UIMC1
gene id: 9606:UIMC1
uniprot id: Q96RL1
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Zinc Finger
up seq anno comments: AIR
up seq anno comments: Abolishes interaction with histone monoubiquitinated H2B without affecting the interaction with H2A.
up seq anno comments: Abolishes phosphorylation at this position.
up seq anno comments: BRCA1-A complex subunit RAP80
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Does not affect symoylation; when associated with A-19; A-31; A-52 and A-61.
up seq anno comments: Does not affect symoylation; when associated with A-9; A-19; A-31 and A-52.
up seq anno comments: Does not affect symoylation; when associated with A-9; A-19; A-31 and A-61.
up seq anno comments: Does not affect symoylation; when associated with A-9; A-19; A-52 and A-61.
up seq anno comments: Does not affect symoylation; when associated with A-9; A-31; A-52 and A-61.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Impairs localization to DNA damages sites; when associated with A-92; S-113 and A-117.
up seq anno comments: Impairs localization to DNA damages sites; when associated with S-88; S-113 and A-117.
up seq anno comments: Impairs the selectivity for 'K-63'-linked ubiquitin.
up seq anno comments: Impairs ubiquitin-binding and localization to DNA damages sites; when associated with S-88; A-92 and A-117.
up seq anno comments: Impairs ubiquitin-binding and localization to DNA damages sites; when associated with S-88; A-92 and S-113.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: Increases the selectivity for 'K-63'-linked ubiquitin.
up seq anno comments: LR motif
up seq anno comments: Necessary for interaction with NR6A1 C-terminus
up seq anno comments: Necessary for interaction with NR6A1 N-terminus
up seq anno comments: Necessary for transcriptional repression
up seq anno comments: Not associated with susceptibility to breast cancer.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Slightly impairs the selectivity for 'K-63'-linked ubiquitin.
up seq anno comments: Strongly reduces ubiquitin binding via UIM 1.
up seq anno comments: UBZ4-type
up seq anno comments: UIM 1
up seq anno comments: UIM 2
up seq anno comments: UIM-linker
up seq anno comments: Zinc-finger-like region
up seq anno feature ids: PRO_0000097547
up seq anno feature ids: VAR_051469
up seq anno feature ids: VAR_051470
up seq anno feature ids: VAR_051471
up seq anno feature ids: VAR_051472
up seq anno feature ids: VAR_055328

9606:ARK2N
gene id: 9606:ARK2N
uniprot id: Q96B23
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: Increased phosphorylation. Increases muscle specific force.
up seq anno comments: Loss of phosphorylation by AMPK. Decreases muscle specific force.
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by AMPK
up seq anno comments: Polar residues
up seq anno comments: Protein ARK2N
up seq anno comments: Required for interaction with CSNK2B
up seq anno feature ids: PRO_0000079312
up seq anno feature ids: VAR_080245
up seq anno feature ids: VSP_014753

9606:SLC2A6
gene id: 9606:SLC2A6
uniprot id: Q9UGQ3
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Dileucine internalization motif
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=10
up seq anno comments: Helical; Name=11
up seq anno comments: Helical; Name=12
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: Helical; Name=8
up seq anno comments: Helical; Name=9
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Solute carrier family 2, facilitated glucose transporter member 6
up seq anno feature ids: PRO_0000050373
up seq anno feature ids: VAR_025426
up seq anno feature ids: VSP_041402

9606:CEP41
gene id: 9606:CEP41
uniprot id: Q9BYV8
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Centrosomal protein of 41 kDa
up seq anno comments: Disordered
up seq anno comments: Found in a patient with Meckel syndrome; unknown pathological significance.
up seq anno comments: Found in a patient with autism; unknown pathological significance.
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Probable disease-associated variant found in a patient with Joubert syndrome; digenic inheritance; the patient also carries a truncating mutation in CC2D2A.
up seq anno comments: Probable disease-associated variant found in a patient with Joubert syndrome; digenic inheritance; the patient also carries a truncating mutation in KIF7.
up seq anno comments: Probable disease-associated variant found in a patient with Joubert syndrome; digenic inheritance; the patient also carries mutation A-1447 in CC2D2A.
up seq anno comments: Rhodanese
up seq anno feature ids: PRO_0000089489
up seq anno feature ids: VAR_067053
up seq anno feature ids: VAR_067054
up seq anno feature ids: VAR_067055
up seq anno feature ids: VAR_067056
up seq anno feature ids: VAR_067057
up seq anno feature ids: VAR_067058
up seq anno feature ids: VSP_012246
up seq anno feature ids: VSP_012247
up seq anno feature ids: VSP_012248
up seq anno feature ids: VSP_042579

9606:CT45A8
gene id: 9606:CT45A8
uniprot id: P0DMV1
uniprot id: P0DMV2
uniprot id: Q5DJT8
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Sequence Conflict
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno comments: Cancer/testis antigen family 45 member A2
up seq anno comments: Cancer/testis antigen family 45 member A8
up seq anno comments: Cancer/testis antigen family 45 member A9
up seq anno feature ids: PRO_0000308947
up seq anno feature ids: PRO_0000433030
up seq anno feature ids: PRO_0000433031

9606:HIVEP1
gene id: 9606:HIVEP1
uniprot id: P15822
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: CCHC HIVEP-type
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Zinc finger protein 40
up seq anno feature ids: PRO_0000047369
up seq anno feature ids: VAR_057383
up seq anno feature ids: VAR_057384
up seq anno feature ids: VAR_057385
up seq anno feature ids: VAR_057386
up seq anno feature ids: VAR_057387
up seq anno feature ids: VAR_057388
up seq anno feature ids: VAR_057389
up seq anno feature ids: VAR_057390
up seq anno feature ids: VAR_057391
up seq anno feature ids: VAR_057392
up seq anno feature ids: VAR_059892
up seq anno feature ids: VAR_059893
up seq anno feature ids: VSP_037714
up seq anno feature ids: VSP_037715
up seq anno feature ids: VSP_037716
up seq anno feature ids: VSP_037717

9606:ABHD12B
gene id: 9606:ABHD12B
uniprot id: Q7Z5M8
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2 and isoform 5.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: Protein ABHD12B
up seq anno feature ids: PRO_0000089887
up seq anno feature ids: VAR_019100
up seq anno feature ids: VAR_035676
up seq anno feature ids: VSP_010687
up seq anno feature ids: VSP_010688
up seq anno feature ids: VSP_010689
up seq anno feature ids: VSP_041149
up seq anno feature ids: VSP_041150

9606:TRIM46
gene id: 9606:TRIM46
uniprot id: A0A087WUH1
uniprot id: B7Z4F9
uniprot id: F5GYK0
uniprot id: Q7Z4K8
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: B box-type
up seq anno comments: B30.2/SPRY
up seq anno comments: COS
up seq anno comments: Disordered
up seq anno comments: Fibronectin type-III
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 5.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: RING-type 1; degenerate
up seq anno comments: RING-type 2; degenerate
up seq anno comments: Required for microtubule association, proximal axon localization and axon formation
up seq anno comments: Required for proximal axon localization, axon formation and migration
up seq anno comments: Tripartite motif-containing protein 46
up seq anno feature ids: PRO_0000056268
up seq anno feature ids: VSP_011980
up seq anno feature ids: VSP_011981
up seq anno feature ids: VSP_011982
up seq anno feature ids: VSP_011983
up seq anno feature ids: VSP_011984
up seq anno feature ids: VSP_045976

9606:H4C11
gene id: 9606:H4C11
uniprot id: B2R4R0
uniprot id: P62805
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolished ufmylation.
up seq anno comments: Asymmetric dimethylarginine; by PRMT1; alternate
up seq anno comments: Citrulline; alternate
up seq anno comments: Disordered
up seq anno comments: Found in a patient with a neurodevelopmental disorder; unknown pathological significance.
up seq anno comments: Found in a patient with a neurodevelopmental disorder; unknown pathological significance; results in early developmental defects when expressed in zebrafish embryos.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in UFM1); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
up seq anno comments: Histone H4
up seq anno comments: Impaired methylation by N6AMT1.
up seq anno comments: In TEBIVANED1.
up seq anno comments: In TEBIVANED1; results in severe early developmental defects when expressed in zebrafish embryos; results in defective cell cycle progression when expressed in zebrafish embryos.
up seq anno comments: In TEBIVANED2 and TEBIVANED3; unknown pathological significance; does not affect early development when expressed in zebrafish embryos.
up seq anno comments: In TEBIVANED2; results in severe early developmental defects when expressed in zebrafish embryos.
up seq anno comments: In TEBIVANED3.
up seq anno comments: In TEBIVANED3; results in early developmental defects when expressed in zebrafish embryos.
up seq anno comments: In TEBIVANED4; results in early developmental defects when expressed in zebrafish embryos.
up seq anno comments: In TEBIVANED4; results in severe early developmental defects when expressed in zebrafish embryos.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: N-acetylserine
up seq anno comments: N6,N6,N6-trimethyllysine; alternate
up seq anno comments: N6,N6-dimethyllysine; alternate
up seq anno comments: N6-(2-hydroxyisobutyryl)lysine; alternate
up seq anno comments: N6-(beta-hydroxybutyryl)lysine; alternate
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-butyryllysine; alternate
up seq anno comments: N6-crotonyllysine; alternate
up seq anno comments: N6-glutaryllysine; alternate
up seq anno comments: N6-lactoyllysine; alternate
up seq anno comments: N6-methyllysine; alternate
up seq anno comments: N6-propionyllysine; alternate
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: Omega-N-methylarginine; by PRMT1; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PAK2
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Removed
up seq anno comments: Symmetric dimethylarginine; by PRMT5 and PRMT7; alternate
up seq anno comments: TATA box binding protein associated factor (TAF) histone-like fold
up seq anno feature ids: PRO_0000158320
up seq anno feature ids: VAR_036206
up seq anno feature ids: VAR_086990
up seq anno feature ids: VAR_086991
up seq anno feature ids: VAR_086992

9606:EIF4E2
gene id: 9606:EIF4E2
uniprot id: A0A8I5KSA5
uniprot id: B8ZZ50
uniprot id: B8ZZL3
uniprot id: B9A023
uniprot id: O60573
uniprot id: Q53RG0
uniprot id: Q59FE1
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Ability to bind capped mRNA reduced to 13% of wild-type.
up seq anno comments: Ability to bind capped mRNA reduced to 40% of wild-type.
up seq anno comments: Ability to bind capped mRNA reduced to less than 10% of wild-type.
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Does not affect ubiquitination by ARIH1; when associated with R-121; R-130 and R-134.
up seq anno comments: Does not affect ubiquitination by ARIH1; when associated with R-121; R-130 and R-222.
up seq anno comments: Does not affect ubiquitination by ARIH1; when associated with R-121; R-134 and R-222.
up seq anno comments: Does not affect ubiquitination by ARIH1; when associated with R-130; R-134 and R-222.
up seq anno comments: EIF4EBP1/2/3 binding
up seq anno comments: Eukaryotic translation initiation factor 4E type 2
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ISG15)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ISG15); alternate
up seq anno comments: In isoform 2.
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Slight reduction in ability to bind capped mRNA.
up seq anno comments: Unable to bind capped mRNA.
up seq anno feature ids: PRO_0000193664
up seq anno feature ids: VSP_054783
up seq anno feature ids: VSP_054784

9606:SLC36A3
gene id: 9606:SLC36A3
uniprot id: Q495N2
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 2.
up seq anno comments: Proton-coupled amino acid transporter 3
up seq anno feature ids: PRO_0000326204
up seq anno feature ids: VAR_040006
up seq anno feature ids: VAR_040007
up seq anno feature ids: VAR_040008
up seq anno feature ids: VAR_040009
up seq anno feature ids: VAR_040010
up seq anno feature ids: VSP_032601
up seq anno feature ids: VSP_032602

9606:KDM5A
gene id: 9606:KDM5A
uniprot id: P29375
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: ARID
up seq anno comments: Abolishes DNA-binding.
up seq anno comments: Abolishes interaction with histone H3 di- and trimethylated at 'Lys-4'.
up seq anno comments: Breakpoint for translocation to form the NUP98-KDM5A fusion protein
up seq anno comments: C5HC2
up seq anno comments: Decreases DNA-binding.
up seq anno comments: Disordered
up seq anno comments: GSGFP motif
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with LMO2
up seq anno comments: JmjC
up seq anno comments: JmjN
up seq anno comments: Lysine-specific demethylase 5A
up seq anno comments: No effect on interaction with histone H3 di- and trimethylated at 'Lys-4'.
up seq anno comments: No effect on lysine-specific histone demethylase activity; when associated with S-626.
up seq anno comments: No effect on lysine-specific histone demethylase activity; when associated with S-636.
up seq anno comments: PHD-type 1
up seq anno comments: PHD-type 2
up seq anno comments: PHD-type 3
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno feature ids: PRO_0000200584
up seq anno feature ids: VAR_032984
up seq anno feature ids: VAR_032985
up seq anno feature ids: VSP_035746

9606:PLPP7
gene id: 9606:PLPP7
uniprot id: A0A384NPM3
uniprot id: Q8NBV4
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Inactive phospholipid phosphatase 7
up seq anno comments: Interaction with MTOR
up seq anno comments: Phosphatidic acid phosphatase type 2/haloperoxidase
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000239401
up seq anno feature ids: VAR_026646
up seq anno feature ids: VAR_026647

9606:ACAT1
gene id: 9606:ACAT1
uniprot id: A0A140VJX1
uniprot id: P24752
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: Acetyl-CoA acetyltransferase, mitochondrial
up seq anno comments: Acyl-thioester intermediate
up seq anno comments: In 3KTD.
up seq anno comments: In 3KTD; decreased acetyl-CoAC-acyltransferase activity; less than 10% of the degradative/thiolase activity.
up seq anno comments: In 3KTD; decreased protein abundance; decreased acetyl-CoAC-acyltransferase activity; less than 10% of the degradative/thiolase activity.
up seq anno comments: In 3KTD; decreased protein stability.
up seq anno comments: In 3KTD; decreased protein stability; decreased acetyl-CoAC-acyltransferase activity; less than 10% of the degradative/thiolase activity.
up seq anno comments: In 3KTD; loss of acetyl-CoAC-acyltransferase activity; no degradative/thiolase activity.
up seq anno comments: In 3KTD; loss of protein solubility; loss of acetyl-CoAC-acyltransferase activity; no degradative/thiolase activity.
up seq anno comments: In 3KTD; no activity.
up seq anno comments: In isoform 2.
up seq anno comments: Increases nucleophilicity of active site Cys
up seq anno comments: Mitochondrion
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-succinyllysine
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: Proton acceptor
up seq anno comments: Proton donor/acceptor
up seq anno comments: Thiolase C-terminal
up seq anno comments: Thiolase N-terminal
up seq anno feature ids: PRO_0000034085
up seq anno feature ids: VAR_007496
up seq anno feature ids: VAR_007497
up seq anno feature ids: VAR_007498
up seq anno feature ids: VAR_007499
up seq anno feature ids: VAR_007500
up seq anno feature ids: VAR_007501
up seq anno feature ids: VAR_007502
up seq anno feature ids: VAR_007503
up seq anno feature ids: VAR_007504
up seq anno feature ids: VAR_007505
up seq anno feature ids: VAR_007506
up seq anno feature ids: VAR_007507
up seq anno feature ids: VSP_056844
up seq anno feature ids: VSP_056845

9606:NIT2
gene id: 9606:NIT2
uniprot id: Q9NQR4
uniprot id: V9HW91
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Mass
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Mass
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno comments: CN hydrolase
up seq anno comments: Less than 3% of wild-type activity using succinamate as substrate.
up seq anno comments: Loss of activity using succinamate as substrate.
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-succinyllysine
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: Nucleophile
up seq anno comments: Omega-amidase NIT2
up seq anno comments: Phosphoserine
up seq anno comments: Proton acceptor
up seq anno comments: Proton donor
up seq anno feature ids: PRO_0000320252
up seq anno feature ids: VAR_039180

9606:EPHA1
gene id: 9606:EPHA1
uniprot id: P21709
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Eph LBD
up seq anno comments: Ephrin type-A receptor 1
up seq anno comments: Extracellular
up seq anno comments: Fibronectin type-III 1
up seq anno comments: Fibronectin type-III 2
up seq anno comments: Helical
up seq anno comments: In a breast pleomorphic lobular carcinoma sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: PDZ-binding
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine; by autocatalysis
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: SAM
up seq anno feature ids: PRO_0000016798
up seq anno feature ids: VAR_028265
up seq anno feature ids: VAR_028266
up seq anno feature ids: VAR_028267
up seq anno feature ids: VAR_042115
up seq anno feature ids: VAR_042116
up seq anno feature ids: VAR_042117
up seq anno feature ids: VAR_042118
up seq anno feature ids: VAR_042119
up seq anno feature ids: VAR_042120
up seq anno feature ids: VSP_056010
up seq anno feature ids: VSP_056011
up seq anno feature ids: VSP_056012
up seq anno feature ids: VSP_056013

9606:STRA8
gene id: 9606:STRA8
uniprot id: A0A590UJF1
uniprot id: Q7Z7C7
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Acidic residues
up seq anno comments: Disordered
up seq anno comments: Found in patients with non-obstructive azoospermia; unknown pathological significance.
up seq anno comments: Nuclear localization signal (NLS)
up seq anno comments: Stimulated by retinoic acid gene 8 protein homolog
up seq anno feature ids: PRO_0000318114
up seq anno feature ids: VAR_081144

9606:PYGB
gene id: 9606:PYGB
uniprot id: P11216
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Glycogen phosphorylase, brain form
up seq anno comments: Involved in the association of subunits
up seq anno comments: May be involved in allosteric control
up seq anno comments: N-acetylalanine
up seq anno comments: N6-(pyridoxal phosphate)lysine
up seq anno comments: Participates in a stacking interaction with the adenine ring of AMP
up seq anno comments: Phosphoserine; by PHK; in form phosphorylase A
up seq anno comments: Phosphotyrosine
up seq anno comments: Pyridoxal 5'-phosphate
up seq anno comments: Removed
up seq anno comments: in other chain
up seq anno feature ids: PRO_0000188535
up seq anno feature ids: VAR_020212
up seq anno feature ids: VAR_034428

9606:ARID2
gene id: 9606:ARID2
uniprot id: Q68CP9
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: ARID
up seq anno comments: AT-rich interactive domain-containing protein 2
up seq anno comments: C2H2-type
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In CSS6.
up seq anno comments: In isoform 2.
up seq anno comments: LXXLL
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: RFX-type winged-helix
up seq anno comments: Removed
up seq anno feature ids: PRO_0000200577
up seq anno feature ids: VAR_080566
up seq anno feature ids: VAR_080567
up seq anno feature ids: VSP_015230

9606:EXOSC1
gene id: 9606:EXOSC1
uniprot id: B1AMU3
uniprot id: Q9Y3B2
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Exosome complex component CSL4
up seq anno comments: Exosome complex component CSL4 C-terminal
up seq anno comments: Exosome complex component N-terminal
up seq anno comments: In PCH1F; decreased protein abundance.
up seq anno comments: Phosphoserine
up seq anno comments: S1 motif
up seq anno feature ids: PRO_0000087127
up seq anno feature ids: VAR_085726

9606:LYSMD1
gene id: 9606:LYSMD1
uniprot id: Q96S90
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: LysM
up seq anno comments: LysM and putative peptidoglycan-binding domain-containing protein 1
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000247996
up seq anno feature ids: VSP_041083

9606:KRT25
gene id: 9606:KRT25
uniprot id: Q6ZPD6
uniprot id: Q7Z3Z0
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Coil 1A
up seq anno comments: Coil 1B
up seq anno comments: Coil 2
up seq anno comments: Disordered
up seq anno comments: Head
up seq anno comments: IF rod
up seq anno comments: In ARWH3.
up seq anno comments: In ARWH3; disruption of keratin intermediate filament formation formed via heterodimerization with KRT5.
up seq anno comments: In ARWH3; reduces keratin intermediate filamen formation; impairs cytoskeleton assembly.
up seq anno comments: Keratin, type I cytoskeletal 25
up seq anno comments: Linker 1
up seq anno comments: Linker 12
up seq anno comments: Phosphoserine
up seq anno comments: Tail
up seq anno feature ids: PRO_0000312691
up seq anno feature ids: VAR_049786
up seq anno feature ids: VAR_076303
up seq anno feature ids: VAR_076304
up seq anno feature ids: VAR_079711

9606:FXYD6-FXYD2
gene id: 9606:FXYD6-FXYD2
uniprot id: A0A087WZ82
uniprot id: A0A0A6YYL5
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Signal Peptide
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: FXYD domain-containing ion transport regulator
up seq anno comments: Helical
up seq anno comments: Polar residues
up seq anno feature ids: PRO_5011328018
up seq anno feature ids: PRO_5011332577

9606:NKIRAS2
gene id: 9606:NKIRAS2
uniprot id: Q9NYR9
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: Effector region
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: NF-kappa-B inhibitor-interacting Ras-like protein 2
up seq anno comments: Small GTPase-like
up seq anno feature ids: PRO_0000225679
up seq anno feature ids: VSP_017412
up seq anno feature ids: VSP_043151
up seq anno feature ids: VSP_044873
up seq anno feature ids: VSP_044874

9606:KIAA0408
gene id: 9606:KIAA0408
uniprot id: Q6ZU52
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Uncharacterized protein KIAA0408
up seq anno feature ids: PRO_0000247177
up seq anno feature ids: VAR_027082
up seq anno feature ids: VAR_049510
up seq anno feature ids: VSP_019942

9606:PHF1
gene id: 9606:PHF1
uniprot id: A0A140VJR4
uniprot id: A0A1U9X8A3
uniprot id: O43189
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Abolishes histone H3K36me3-binding and localization at double-strand breaks (DSBs).
up seq anno comments: Abolishes histone H3K36me3-binding.
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Impairs histone H3K36me3-binding.
up seq anno comments: In isoform 1.
up seq anno comments: PHD finger protein 1
up seq anno comments: PHD-type
up seq anno comments: PHD-type 1
up seq anno comments: PHD-type 2
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Tudor
up seq anno feature ids: PRO_0000059288
up seq anno feature ids: VAR_034382
up seq anno feature ids: VAR_044500
up seq anno feature ids: VSP_004694
up seq anno feature ids: VSP_004695

9606:MRPL30
gene id: 9606:MRPL30
uniprot id: Q8TCC3
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Large ribosomal subunit protein uL30m
up seq anno comments: Mitochondrion
up seq anno feature ids: PRO_0000261649
up seq anno feature ids: VAR_034462
up seq anno feature ids: VSP_021746
up seq anno feature ids: VSP_021747

9606:CLEC3B
gene id: 9606:CLEC3B
uniprot id: E9PHK0
uniprot id: P05452
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Mass
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mass
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: C-type lectin
up seq anno comments: In MCDR4; leads to thinning in both the outer nuclear layer and whole retina and to impaired retinal function, when tested in a heterologous system.
up seq anno comments: O-linked (GalNAc...) threonine
up seq anno comments: Tetranectin
up seq anno feature ids: PRO_0000017471
up seq anno feature ids: VAR_004189
up seq anno feature ids: VAR_004190
up seq anno feature ids: VAR_012318
up seq anno feature ids: VAR_087508

9606:TPP2
gene id: 9606:TPP2
uniprot id: P29144
uniprot id: Q5VZU9
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Charge relay system
up seq anno comments: Disordered
up seq anno comments: Found in a patient diagnosed with multiple sclerosis; unknown pathological significance.
up seq anno comments: Found in a patient diagnosed with multiple sclerosis; unknown pathological significance; decreased protein abundance; not changed aminopeptidase activity.
up seq anno comments: In IMD78; decreased protein abundance; decreased aminopeptidase activity.
up seq anno comments: In IMD78; loss of expression.
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: Peptidase S8
up seq anno comments: Peptidase S8/S53
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno comments: Tripeptidyl peptidase II Ig-like
up seq anno comments: Tripeptidyl-peptidase 2
up seq anno feature ids: PRO_0000076422
up seq anno feature ids: VAR_085640
up seq anno feature ids: VAR_085641
up seq anno feature ids: VAR_085642
up seq anno feature ids: VAR_085643

9606:AGPAT3
gene id: 9606:AGPAT3
uniprot id: Q9NRZ7
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Motif
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: 1-acyl-sn-glycerol-3-phosphate acyltransferase gamma
up seq anno comments: Cytoplasmic
up seq anno comments: HXXXXD motif
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Lumenal
up seq anno feature ids: PRO_0000208194
up seq anno feature ids: VSP_005072
up seq anno feature ids: VSP_013144

9606:SEC63
gene id: 9606:SEC63
uniprot id: A0A0S2Z5M1
uniprot id: Q9UGP8
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In PCLD2.
up seq anno comments: J
up seq anno comments: Lumenal
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Reduces cotranslational translocation of APLN precursor/preproapelin.
up seq anno comments: SEC63 1
up seq anno comments: SEC63 2
up seq anno comments: Translocation protein SEC63 homolog
up seq anno feature ids: PRO_0000071097
up seq anno feature ids: VAR_019645
up seq anno feature ids: VAR_061146
up seq anno feature ids: VAR_080944
up seq anno feature ids: VAR_080945
up seq anno feature ids: VAR_080946
up seq anno feature ids: VAR_080947
up seq anno feature ids: VAR_080948
up seq anno feature ids: VAR_080949
up seq anno feature ids: VAR_080950
up seq anno feature ids: VAR_080951
up seq anno feature ids: VAR_080952

9606:RTL8C
gene id: 9606:RTL8C
uniprot id: A6ZKI3
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno comments: Retrotransposon Gag-like protein 8C
up seq anno feature ids: PRO_0000311726
up seq anno feature ids: VAR_053975

9606:OR6C3
gene id: 9606:OR6C3
uniprot id: A0A126GW44
uniprot id: Q9NZP0
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 6C3
up seq anno feature ids: PRO_0000150625
up seq anno feature ids: VAR_034245
up seq anno feature ids: VAR_053218
up seq anno feature ids: VAR_053219

9606:PCDHGA8
gene id: 9606:PCDHGA8
uniprot id: Q9Y5G5
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cadherin 1
up seq anno comments: Cadherin 2
up seq anno comments: Cadherin 3
up seq anno comments: Cadherin 4
up seq anno comments: Cadherin 5
up seq anno comments: Cadherin 6
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: Protocadherin gamma-A8
up seq anno feature ids: PRO_0000003962
up seq anno feature ids: VAR_048564
up seq anno feature ids: VAR_061070
up seq anno feature ids: VSP_008673
up seq anno feature ids: VSP_008674

9606:COL4A2
gene id: 9606:COL4A2
uniprot id: P08572
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 3'-bromotyrosine
up seq anno comments: Associated with ICH susceptibility; results in a significantly decreased extracellular-to-intracellular ratio of COL4A2 and COL4A1 proteins, indicating interference with the proper secretion of both these proteins.
up seq anno comments: Basic and acidic residues
up seq anno comments: Canstatin
up seq anno comments: Collagen IV NC1
up seq anno comments: Collagen alpha-2(IV) chain
up seq anno comments: Disordered
up seq anno comments: Does not affect COL4A2 and COL4A1 secretion.
up seq anno comments: In BSVD2.
up seq anno comments: In BSVD2; incomplete penetrance.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: N-terminal propeptide (7S domain)
up seq anno comments: Pro residues
up seq anno comments: Probable disease-associated variant found in a family with porencephaly and small-vessel disease in the form of scattered white matter lesions; impairs COL4A2 and COL4A1 secretion; the mutant protein is retained in the endoplasmic reticulum.
up seq anno comments: Triple-helical region
up seq anno feature ids: PRO_0000005824
up seq anno feature ids: PRO_0000005825
up seq anno feature ids: PRO_0000283775
up seq anno feature ids: VAR_048796
up seq anno feature ids: VAR_048797
up seq anno feature ids: VAR_067551
up seq anno feature ids: VAR_067552
up seq anno feature ids: VAR_067553
up seq anno feature ids: VAR_067554
up seq anno feature ids: VAR_067555
up seq anno feature ids: VAR_067556
up seq anno feature ids: VAR_067557
up seq anno feature ids: VAR_067558
up seq anno feature ids: VAR_067836
up seq anno feature ids: VAR_067837
up seq anno feature ids: VAR_067838

9606:DDB1
gene id: 9606:DDB1
uniprot id: Q16531
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: DNA damage-binding protein 1
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Impairs interaction with AMBRA1, DTL and DCAF5.
up seq anno comments: Impairs interaction with AMBRA1, DTL, DET1, DCAF1, DCAF5, DCAF11 and DCAF8.
up seq anno comments: Impairs interaction with AMBRA1, ERCC8, DCAF5 and DCAF11.
up seq anno comments: Impairs interaction with DDA1.
up seq anno comments: In WHIKERS.
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with CDT1
up seq anno comments: Interaction with CDT1 and CUL4A
up seq anno comments: N-acetylserine
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno comments: Slightly impairs interaction with CUL4A.
up seq anno comments: Strongly impairs interaction with CUL4A.
up seq anno comments: WD repeat beta-propeller A
up seq anno comments: WD repeat beta-propeller B; Interaction with CUL4A
up seq anno comments: WD repeat beta-propeller C
up seq anno feature ids: PRO_0000079840
up seq anno feature ids: VAR_023074
up seq anno feature ids: VAR_086005
up seq anno feature ids: VAR_086006
up seq anno feature ids: VAR_086007
up seq anno feature ids: VAR_086008
up seq anno feature ids: VAR_086009
up seq anno feature ids: VSP_055540

9606:VPS52
gene id: 9606:VPS52
uniprot id: Q8N1B4
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno comments: Vacuolar protein sorting-associated protein 52 homolog
up seq anno feature ids: PRO_0000213315
up seq anno feature ids: VSP_056476

9606:ATPSCKMT
gene id: 9606:ATPSCKMT
uniprot id: Q6P4H8
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: ATP synthase subunit C lysine N-methyltransferase
up seq anno comments: Abolished protein-lysine N-methyltransferase activity and ability to promote chronic pain.
up seq anno comments: Abolished protein-lysine N-methyltransferase activity.
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylmethionine
up seq anno comments: Required for mitochondrial location
up seq anno feature ids: PRO_0000321536
up seq anno feature ids: VAR_039345
up seq anno feature ids: VAR_039346
up seq anno feature ids: VAR_039347
up seq anno feature ids: VAR_039348
up seq anno feature ids: VSP_044724

9606:PELO
gene id: 9606:PELO
uniprot id: Q9BRX2
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolished ability to rescue stalled ribosomes.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Phosphoserine
up seq anno comments: Protein pelota homolog
up seq anno feature ids: PRO_0000143188
up seq anno feature ids: VAR_019777

9606:NEURL3
gene id: 9606:NEURL3
uniprot id: Q96EH8
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Zinc Finger
up seq anno comments: E3 ubiquitin-protein ligase NEURL3
up seq anno comments: NHR
up seq anno comments: RING-type
up seq anno feature ids: PRO_0000325771

9606:ZNF620
gene id: 9606:ZNF620
uniprot id: Q6ZNG0
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: In isoform 2.
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 620
up seq anno feature ids: PRO_0000047691
up seq anno feature ids: VSP_016040

9606:UBAP2
gene id: 9606:UBAP2
uniprot id: B4DH66
uniprot id: B7Z7P2
uniprot id: Q5T6F2
uniprot id: Q9P0H6
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: UBA
up seq anno comments: Ubiquitin-associated protein 2
up seq anno feature ids: PRO_0000270981
up seq anno feature ids: VAR_029834
up seq anno feature ids: VAR_029835
up seq anno feature ids: VAR_052677
up seq anno feature ids: VAR_052678
up seq anno feature ids: VAR_052679
up seq anno feature ids: VSP_056073

9606:B3GALNT1
gene id: 9606:B3GALNT1
uniprot id: B3KTQ4
uniprot id: O75752
uniprot id: Q49AT3
uniprot id: Q7L9G8
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Associated with P1(k) phenotype.
up seq anno comments: Associated with P2(k) phenotype.
up seq anno comments: Cytoplasmic
up seq anno comments: Helical
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1
up seq anno feature ids: PRO_0000219153
up seq anno feature ids: VAR_019646
up seq anno feature ids: VAR_019647
up seq anno feature ids: VAR_025091

9606:SLC22A23
gene id: 9606:SLC22A23
uniprot id: A1A5C7
uniprot id: Q9UFY2
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: Solute carrier family 22 member 23
up seq anno feature ids: PRO_0000308315
up seq anno feature ids: VSP_028954
up seq anno feature ids: VSP_028955
up seq anno feature ids: VSP_028956

9606:GBX2
gene id: 9606:GBX2
uniprot id: F8VY47
uniprot id: P52951
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Homeobox
up seq anno comments: Homeobox protein GBX-2
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000048880

9606:DKC1
gene id: 9606:DKC1
uniprot id: A0A8Q3SIY6
uniprot id: O60832
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Dyskerin-like
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: H/ACA ribonucleoprotein complex subunit DKC1
up seq anno comments: In DKCX and HHS; increases interaction with SHQ1.
up seq anno comments: In DKCX.
up seq anno comments: In DKCX; decreases interaction with SHQ1.
up seq anno comments: In DKCX; due to a 2 nucleotide inversion.
up seq anno comments: In DKCX; increases interaction with SHQ1.
up seq anno comments: In DKCX; requires 2 nucleotide substitutions.
up seq anno comments: In DKCX; results in mislocalization of the telomerase complex without affecting telomerase activity.
up seq anno comments: In HHS.
up seq anno comments: In HHS; increases interaction with SHQ1.
up seq anno comments: In HHS; no effect on interaction with SHQ1.
up seq anno comments: In isoform 3.
up seq anno comments: Increases interaction with SHQ1.
up seq anno comments: N-acetylalanine
up seq anno comments: Nuclear and nucleolar localization
up seq anno comments: Nucleolar localization
up seq anno comments: Nucleophile
up seq anno comments: PUA
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000121983
up seq anno feature ids: VAR_006811
up seq anno feature ids: VAR_006812
up seq anno feature ids: VAR_006813
up seq anno feature ids: VAR_006814
up seq anno feature ids: VAR_006815
up seq anno feature ids: VAR_009264
up seq anno feature ids: VAR_010076
up seq anno feature ids: VAR_010077
up seq anno feature ids: VAR_010078
up seq anno feature ids: VAR_010079
up seq anno feature ids: VAR_010080
up seq anno feature ids: VAR_010081
up seq anno feature ids: VAR_010082

9606:TEKT3
gene id: 9606:TEKT3
uniprot id: Q9BXF9
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: In SPGF81; unknown pathological significance; loss of protein expression in vivo in patient's spermatozoa, but no effect in transfected cells.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: O-linked (GalNAc...) threonine
up seq anno comments: Tektin-3
up seq anno feature ids: PRO_0000184568
up seq anno feature ids: VAR_024658
up seq anno feature ids: VAR_024659
up seq anno feature ids: VAR_034550
up seq anno feature ids: VAR_053721
up seq anno feature ids: VAR_088218
up seq anno feature ids: VAR_088219

9606:CRIM1
gene id: 9606:CRIM1
uniprot id: Q9NZV1
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Antistasin-like 1
up seq anno comments: Antistasin-like 2
up seq anno comments: Antistasin-like 3
up seq anno comments: Antistasin-like 4
up seq anno comments: Cell attachment site
up seq anno comments: Cysteine-rich motor neuron 1 protein
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: IGFBP N-terminal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphothreonine
up seq anno comments: Processed cysteine-rich motor neuron 1 protein
up seq anno comments: VWFC 1
up seq anno comments: VWFC 2
up seq anno comments: VWFC 3
up seq anno comments: VWFC 4
up seq anno comments: VWFC 5
up seq anno comments: VWFC 6
up seq anno feature ids: PRO_0000021001
up seq anno feature ids: PRO_0000296243
up seq anno feature ids: VAR_050907
up seq anno feature ids: VAR_061625

9606:CBX7
gene id: 9606:CBX7
uniprot id: B0QYP2
uniprot id: O95931
uniprot id: Q4PNR6
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Chromo
up seq anno comments: Chromobox protein homolog 7
up seq anno comments: Disordered
up seq anno comments: Loss of cellular lifespan extension.
up seq anno comments: Loss of interaction with RNF2.
up seq anno comments: Reduced interaction with RNF2.
up seq anno comments: Required for cellular lifespan extension
up seq anno feature ids: PRO_0000080212

9606:TBATA
gene id: 9606:TBATA
uniprot id: A0A0A0MSR7
uniprot id: A0A8I5KS30
uniprot id: B7ZMN4
uniprot id: B7ZMN5
uniprot id: Q96M53
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno comments: Protein TBATA
up seq anno feature ids: PRO_0000089786
up seq anno feature ids: VAR_022998
up seq anno feature ids: VSP_035483
up seq anno feature ids: VSP_035484

9606:SPMIP2
gene id: 9606:SPMIP2
uniprot id: Q96LM5
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: Protein SPMIP2
up seq anno feature ids: PRO_0000325755
up seq anno feature ids: VAR_039901
up seq anno feature ids: VAR_039902
up seq anno feature ids: VAR_039903
up seq anno feature ids: VAR_039904
up seq anno feature ids: VAR_039905

9606:CCNT2
gene id: 9606:CCNT2
uniprot id: B4DH21
uniprot id: O60583
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Turn
up seq anno comments: Activation of HIV-1 Tat function.
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Cyclin N-terminal
up seq anno comments: Cyclin-T2
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with MDFIC and MDFI
up seq anno comments: Interaction with POLR2A
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000080495
up seq anno feature ids: VSP_001258

9606:NDUFS2
gene id: 9606:NDUFS2
uniprot id: B7Z792
uniprot id: O75306
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: In MC1DN6.
up seq anno comments: In MC1DN6; loss of catalytic activity; no change in Km value for ubiquinone-1.
up seq anno comments: In isoform 2.
up seq anno comments: Mitochondrion
up seq anno comments: N6-acetyllysine
up seq anno comments: NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial
up seq anno comments: NADH-quinone oxidoreductase subunit D
up seq anno comments: Symmetric dimethylarginine
up seq anno feature ids: PRO_0000019981
up seq anno feature ids: VAR_019535
up seq anno feature ids: VAR_019536
up seq anno feature ids: VAR_019537
up seq anno feature ids: VAR_034150
up seq anno feature ids: VAR_034151
up seq anno feature ids: VAR_034152
up seq anno feature ids: VAR_071891
up seq anno feature ids: VAR_084193
up seq anno feature ids: VSP_046466

9606:GIPC3
gene id: 9606:GIPC3
uniprot id: Q8TF64
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: In DFNB15.
up seq anno comments: PDZ
up seq anno comments: PDZ domain-containing protein GIPC3
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000247191
up seq anno feature ids: VAR_065967
up seq anno feature ids: VAR_065968
up seq anno feature ids: VAR_065969
up seq anno feature ids: VAR_065970
up seq anno feature ids: VAR_065971
up seq anno feature ids: VAR_065972
up seq anno feature ids: VAR_065973

9606:RAB23
gene id: 9606:RAB23
uniprot id: Q9ULC3
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Cysteine methyl ester
up seq anno comments: Disordered
up seq anno comments: Effector region
up seq anno comments: In CRPT1.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Ras-related protein Rab-23
up seq anno comments: Removed in mature form
up seq anno comments: S-geranylgeranyl cysteine
up seq anno feature ids: PRO_0000121211
up seq anno feature ids: PRO_0000370771
up seq anno feature ids: VAR_017159
up seq anno feature ids: VAR_034900
up seq anno feature ids: VAR_034901
up seq anno feature ids: VAR_034902
up seq anno feature ids: VAR_034903
up seq anno feature ids: VAR_065294
up seq anno feature ids: VAR_065295

9606:PTN
gene id: 9606:PTN
uniprot id: A0A8V8TNI1
uniprot id: P21246
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Chondroitin sulfate A binding
up seq anno comments: Chondroitin sulfate binding
up seq anno comments: Disordered
up seq anno comments: Pleiotrophin
up seq anno comments: Pleiotrophin/Midkine C-terminal
up seq anno comments: Pleiotrophin/Midkine N-terminal
up seq anno feature ids: PRO_0000024659
up seq anno feature ids: PRO_5036463064

9606:MED9
gene id: 9606:MED9
uniprot id: Q9NWA0
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno comments: Disordered
up seq anno comments: Mediator of RNA polymerase II transcription subunit 9
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Pro residues
up seq anno comments: Removed
up seq anno feature ids: PRO_0000304147

9606:CTAG1A
gene id: 9606:CTAG1A
uniprot id: P78358
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Splice Variant
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno labels: Turn
up seq anno comments: Cancer/testis antigen 1
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000218922
up seq anno feature ids: VSP_028548

9606:FOXP2
gene id: 9606:FOXP2
uniprot id: B7ZLK5
uniprot id: O15409
uniprot id: Q8N6B5
uniprot id: Q8N6B6
uniprot id: X5D2H2
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Zinc Finger
up seq anno comments: Acidic residues
up seq anno comments: C2H2-type
up seq anno comments: CTBP1-binding
up seq anno comments: Disordered
up seq anno comments: FOXP coiled-coil
up seq anno comments: Fork-head
up seq anno comments: Forkhead box protein P2
up seq anno comments: In SPCH1; reduced interaction with TBR1.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4 and isoform 5.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: In isoform 7.
up seq anno comments: In isoform 8.
up seq anno comments: In isoform 9.
up seq anno comments: Leucine-zipper
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000091879
up seq anno feature ids: VAR_012278
up seq anno feature ids: VSP_001558
up seq anno feature ids: VSP_011532
up seq anno feature ids: VSP_011533
up seq anno feature ids: VSP_011534
up seq anno feature ids: VSP_011535
up seq anno feature ids: VSP_011536
up seq anno feature ids: VSP_011537
up seq anno feature ids: VSP_011538
up seq anno feature ids: VSP_011539
up seq anno feature ids: VSP_043464

9606:CHRNB1
gene id: 9606:CHRNB1
uniprot id: P11230
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Acetylcholine receptor subunit beta
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In CMS2A.
up seq anno comments: In CMS2A; slow-channel mutation; increases gating equilibrium constant by 33-fold, owing to increased opening rate and decreased closing rate; no effect on the choline dissociation rate constant.
up seq anno comments: In CMS2C; impairs AChR assembly by disrupting a specific interaction between beta and delta subunits.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphotyrosine; by Tyr-kinases
up seq anno feature ids: PRO_0000000315
up seq anno feature ids: VAR_000287
up seq anno feature ids: VAR_000288
up seq anno feature ids: VAR_017494
up seq anno feature ids: VAR_048169
up seq anno feature ids: VAR_070842
up seq anno feature ids: VAR_077363
up seq anno feature ids: VSP_056675

9606:TNFAIP3
gene id: 9606:TNFAIP3
uniprot id: P21580
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: A20-type 1
up seq anno comments: A20-type 2
up seq anno comments: A20-type 3
up seq anno comments: A20-type 4
up seq anno comments: A20-type 5
up seq anno comments: A20-type 6
up seq anno comments: A20-type 7
up seq anno comments: A20p37
up seq anno comments: A20p50
up seq anno comments: Abolishes interactionj with YWHAZ and YWHAH; no effect on inhibitory activity of TNF-induced NF-kappa-B activation.
up seq anno comments: Cleavage; by MALT1
up seq anno comments: Disordered
up seq anno comments: Impairs polyubiquitin binding, abolishes inhibition of IKK activation.
up seq anno comments: Impairs polyubiquitin binding, abolishes inhibition of IKK activation; when associated with A-779.
up seq anno comments: Impairs polyubiquitin binding, abolishes inhibition of IKK activation; when associated with A-782.
up seq anno comments: Impairs ubiquitination activity. Loss of down-regulation of NF-kappa-B activity; when associated with A-614.
up seq anno comments: Impairs ubiquitination activity. Loss of down-regulation of NF-kappa-B activity; when associated with A-615 or R-626.
up seq anno comments: In AIFBL1; increases inflammatory cytokine secretion; increases NF-kappaB signaling.
up seq anno comments: Interaction with RIPK1
up seq anno comments: Interaction with TNIP1
up seq anno comments: Interaction with ubiquitin
up seq anno comments: Loss of 'Lys-63' deubiquitinating activity. Down-regulation of TNF-induced NF-kappa-B activity less effective.
up seq anno comments: Loss of deubiquitinase activity.
up seq anno comments: Marked attenuation of ubiquitin ligase activity and inhibition of RIPK1 degradation; when associated with A-624.
up seq anno comments: Marked attenuation of ubiquitin ligase activity and inhibition of RIPK1 degradation; when associated with A-627.
up seq anno comments: Minor effect on 'Lys-48' deubiquitinase activity.
up seq anno comments: Minor effect on 'Lys-48' deubiquitinase activity. Strongly reduced 'Lys-63' deubiquitinase activity.
up seq anno comments: N-acetylalanine
up seq anno comments: No effect on ubiquitin ligase activity; when associated with A-521.
up seq anno comments: No effect on ubiquitin ligase activity; when associated with A-524.
up seq anno comments: Nucleophile
up seq anno comments: OTU
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Proton acceptor
up seq anno comments: Reduces deubiquitinase activity.
up seq anno comments: Removed
up seq anno comments: Required for lysosomal localization and for TRAF2 lysosomal degradation
up seq anno comments: Required for proteasomal degradation of UBE2N and UBE2D3, TRAF6 deubiquitination, and TAX1BP1 interaction with UBE2N
up seq anno comments: Strongly reduced 'Lys-48' deubiquitinase activity.
up seq anno comments: Strongly reduced deubiquitinase activity.
up seq anno comments: Sufficient for inhibitory activity of TNF-induced NF-kappa-B activity
up seq anno comments: TRAF-binding

9606:ITGA10
gene id: 9606:ITGA10
uniprot id: B4E282
uniprot id: O75578
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: FG-GAP
up seq anno comments: FG-GAP 1
up seq anno comments: FG-GAP 2
up seq anno comments: FG-GAP 3
up seq anno comments: FG-GAP 4
up seq anno comments: FG-GAP 5
up seq anno comments: FG-GAP 6
up seq anno comments: FG-GAP 7
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Integrin alpha-10
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: VWFA
up seq anno feature ids: PRO_0000016317
up seq anno feature ids: VAR_027768
up seq anno feature ids: VAR_027769
up seq anno feature ids: VAR_027770
up seq anno feature ids: VAR_034026
up seq anno feature ids: VAR_034027
up seq anno feature ids: VSP_013114
up seq anno feature ids: VSP_013115
up seq anno feature ids: VSP_054483

9606:NLRP5
gene id: 9606:NLRP5
uniprot id: P59047
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: Found in a patient with Beckwith-Wiedemann syndrome and multi-locus imprinting disturbance; unknown pathological significance.
up seq anno comments: Found in a patient with Silver-Russell syndrome and multi-locus imprinting disturbance; unknown pathological significance.
up seq anno comments: Found in a patient with features of Silver-Russell syndrome and multi-locus imprinting disturbance; unknown pathological significance.
up seq anno comments: Found in a patient with mild cognitive retardation and multi-locus imprinting disturbance; unknown pathological significance.
up seq anno comments: Found in an individual with no overt clinical disease and multi-locus imprinting disturbance; unknown pathological significance.
up seq anno comments: Found in patients with Beckwith-Wiedemann syndrome and multi-locus imprinting disturbance; when associated in cis with Q-76; unknown pathological significance.
up seq anno comments: Found in patients with Beckwith-Wiedemann syndrome and multi-locus imprinting disturbance; when associated in cis with T-52; unknown pathological significance.
up seq anno comments: Found in patients with female infertility; unknown pathological significance.
up seq anno comments: Found in patients with female infertility; unknown pathological significance; reduces protein abundance in oocytes and embryos.
up seq anno comments: Found in patients with female infertility; when associated in cis with C-462; unknown pathological significance.
up seq anno comments: Found in patients with female infertility; when associated in cis with P-143; unknown pathological significance.
up seq anno comments: LRR 1
up seq anno comments: LRR 10
up seq anno comments: LRR 11
up seq anno comments: LRR 12
up seq anno comments: LRR 13
up seq anno comments: LRR 2
up seq anno comments: LRR 3
up seq anno comments: LRR 4
up seq anno comments: LRR 5
up seq anno comments: LRR 6
up seq anno comments: LRR 7
up seq anno comments: LRR 8
up seq anno comments: LRR 9
up seq anno comments: NACHT
up seq anno comments: NACHT, LRR and PYD domains-containing protein 5
up seq anno comments: Polar residues
up seq anno comments: Pyrin
up seq anno feature ids: PRO_0000080890
up seq anno feature ids: VAR_060095
up seq anno feature ids: VAR_060096
up seq anno feature ids: VAR_060097
up seq anno feature ids: VAR_060098
up seq anno feature ids: VAR_060099
up seq anno feature ids: VAR_060100
up seq anno feature ids: VAR_060101
up seq anno feature ids: VAR_060102
up seq anno feature ids: VAR_084173
up seq anno feature ids: VAR_084174
up seq anno feature ids: VAR_084175
up seq anno feature ids: VAR_084176
up seq anno feature ids: VAR_084570
up seq anno feature ids: VAR_084571
up seq anno feature ids: VAR_084572
up seq anno feature ids: VAR_084573
up seq anno feature ids: VAR_084574
up seq anno feature ids: VAR_084575
up seq anno feature ids: VAR_084576
up seq anno feature ids: VAR_084577
up seq anno feature ids: VAR_084578
up seq anno feature ids: VAR_084579
up seq anno feature ids: VAR_084580
up seq anno feature ids: VAR_084581
up seq anno feature ids: VAR_084582
up seq anno feature ids: VAR_084583
up seq anno feature ids: VAR_084584

9606:DNAAF2
gene id: 9606:DNAAF2
uniprot id: Q9NVR5
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Protein kintoun
up seq anno feature ids: PRO_0000089911
up seq anno feature ids: VAR_024309
up seq anno feature ids: VAR_057788
up seq anno feature ids: VSP_008390

9606:OR8D2
gene id: 9606:OR8D2
uniprot id: A0A126GVG3
uniprot id: Q9GZM6
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 8D2
up seq anno feature ids: PRO_0000150660
up seq anno feature ids: VAR_024117
up seq anno feature ids: VAR_053244

9606:PADI3
gene id: 9606:PADI3
uniprot id: Q9ULW8
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: In UHS1; forms large aggregates; decreases protein-arginine deiminase activity.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: Protein-arginine deiminase type-3
up seq anno feature ids: PRO_0000220029
up seq anno feature ids: VAR_020462
up seq anno feature ids: VAR_020463
up seq anno feature ids: VAR_035502
up seq anno feature ids: VAR_053558
up seq anno feature ids: VAR_053559
up seq anno feature ids: VAR_078023
up seq anno feature ids: VAR_078024
up seq anno feature ids: VAR_078025

9606:CEP128
gene id: 9606:CEP128
uniprot id: Q6ZU80
uniprot id: Q86TS1
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Centrosomal protein of 128 kDa
up seq anno comments: Disordered
up seq anno comments: In isoform 1.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000089946
up seq anno feature ids: VAR_037835
up seq anno feature ids: VAR_037836
up seq anno feature ids: VSP_014752
up seq anno feature ids: VSP_030194
up seq anno feature ids: VSP_030195
up seq anno feature ids: VSP_030196

9606:PEF1
gene id: 9606:PEF1
uniprot id: A0A384MQX5
uniprot id: Q9UBV8
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno comments: 1
up seq anno comments: 2
up seq anno comments: 3
up seq anno comments: 4
up seq anno comments: 5
up seq anno comments: 6
up seq anno comments: 7
up seq anno comments: 8
up seq anno comments: 9
up seq anno comments: 9 X 9 AA approximate tandem repeat of [AP]-P-G-G-P-Y-G-G-P-P
up seq anno comments: Decreased ubiquitination by the BCR(KLHL12) E3 ubiquitin ligase complex.
up seq anno comments: Disordered
up seq anno comments: Does not affect ubiquitination by the BCR(KLHL12) E3 ubiquitin ligase complex.
up seq anno comments: EF-hand
up seq anno comments: EF-hand 1
up seq anno comments: EF-hand 2
up seq anno comments: EF-hand 3
up seq anno comments: EF-hand 4
up seq anno comments: EF-hand 5
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Peflin
up seq anno comments: Pro residues
up seq anno comments: Required for interaction with PDCD6
up seq anno feature ids: PRO_0000247045

9606:DAD1
gene id: 9606:DAD1
uniprot id: P61803
uniprot id: Q53G02
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit DAD1
up seq anno comments: Helical
up seq anno comments: Lumenal
up seq anno comments: N-acetylserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000124009
up seq anno feature ids: VAR_018825

9606:UTP4
gene id: 9606:UTP4
uniprot id: Q969X6
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Found in patients with North American Indian childhood cirrhosis; unknown pathological significance; does not affect nucleolar protein location; decreased interaction with HIVEP1 measured in yeast two-hybrid screening.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: U3 small nucleolar RNA-associated protein 4 homolog
up seq anno comments: WD 1
up seq anno comments: WD 10
up seq anno comments: WD 11
up seq anno comments: WD 12
up seq anno comments: WD 13
up seq anno comments: WD 14
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno comments: WD 7
up seq anno comments: WD 8
up seq anno comments: WD 9
up seq anno feature ids: PRO_0000050908
up seq anno feature ids: VAR_017445
up seq anno feature ids: VAR_053388
up seq anno feature ids: VSP_009201
up seq anno feature ids: VSP_009202
up seq anno feature ids: VSP_009203

9606:ATG2A
gene id: 9606:ATG2A
uniprot id: Q2TAZ0
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Acidic residues
up seq anno comments: Autophagy-related protein 2 homolog A
up seq anno comments: Chorein N-terminal
up seq anno comments: Decreased interaction with WDR45/WIPI4 and ability to promote autophagy.
up seq anno comments: Disordered
up seq anno comments: In Mutant 1; abolished lipid transfer activity; when associated with R-54, E-101, R-167, E-171, R-193, R-200, E-223, R-285, R-304 and R-328.
up seq anno comments: In Mutant 1; abolished lipid transfer activity; when associated with R-54, R-82, E-101, E-171, R-193, R-200, E-223, R-285, R-304 and R-328.
up seq anno comments: In Mutant 1; abolished lipid transfer activity; when associated with R-54, R-82, E-101, R-167, E-171, R-193, E-223, R-285, R-304 and R-328.
up seq anno comments: In Mutant 1; abolished lipid transfer activity; when associated with R-54, R-82, E-101, R-167, E-171, R-193, R-200, E-223, R-285 and R-304.
up seq anno comments: In Mutant 1; abolished lipid transfer activity; when associated with R-54, R-82, E-101, R-167, E-171, R-193, R-200, E-223, R-285 and R-328. In Mutant 2; abolished lipid transfer activity; when associated with E-80, D-103, K-167, R-171, E-193, K-259 and E-285.
up seq anno comments: In Mutant 1; abolished lipid transfer activity; when associated with R-54, R-82, E-101, R-167, E-171, R-193, R-200, E-223, R-304 and R-328.
up seq anno comments: In Mutant 1; abolished lipid transfer activity; when associated with R-54, R-82, E-101, R-167, E-171, R-193, R-200, R-285, R-304 and R-328.
up seq anno comments: In Mutant 1; abolished lipid transfer activity; when associated with R-54, R-82, E-101, R-167, E-171, R-200, E-223, R-285, R-304 and R-328.
up seq anno comments: In Mutant 1; abolished lipid transfer activity; when associated with R-54, R-82, E-101, R-167, R-193, R-200, E-223, R-285, R-304 and R-328.
up seq anno comments: In Mutant 1; abolished lipid transfer activity; when associated with R-54, R-82, R-167, E-171, R-193, R-200, E-223, R-285, R-304 and R-328.
up seq anno comments: In Mutant 1; abolished lipid transfer activity; when associated with R-82, E-101, R-167, E-171, R-193, R-200, E-223, R-285, R-304 and R-328.
up seq anno comments: In Mutant 2; abolished lipid transfer activity; when associated with D-103, K-167, R-171, E-193, K-259, E-285 and R-304.
up seq anno comments: In Mutant 2; abolished lipid transfer activity; when associated with E-80, D-103, K-167, E-193, K-259, E-285 and R-304.
up seq anno comments: In Mutant 2; abolished lipid transfer activity; when associated with E-80, D-103, K-167, R-171, E-193, E-285 and R-304.
up seq anno comments: In Mutant 2; abolished lipid transfer activity; when associated with E-80, D-103, K-167, R-171, E-193, K-259 and R-304.
up seq anno comments: In Mutant 2; abolished lipid transfer activity; when associated with E-80, D-103, K-167, R-171, K-259, E-285 and R-304.
up seq anno comments: In Mutant 2; abolished lipid transfer activity; when associated with E-80, D-103, R-171, E-193, K-259, E-285 and R-304.
up seq anno comments: In Mutant 2; abolished lipid transfer activity; when associated with E-80,K-167, R-171, E-193, K-259, E-285 and R-304.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: WIPI-interacting
up seq anno feature ids: PRO_0000315234
up seq anno feature ids: VAR_038158
up seq anno feature ids: VAR_038159
up seq anno feature ids: VAR_038160
up seq anno feature ids: VAR_061027
up seq anno feature ids: VAR_061028
up seq anno feature ids: VAR_061029
up seq anno feature ids: VSP_030510
up seq anno feature ids: VSP_030511
up seq anno feature ids: VSP_030512
up seq anno feature ids: VSP_030515
up seq anno feature ids: VSP_030516

9606:SLCO2A1
gene id: 9606:SLCO2A1
uniprot id: Q92959
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=10
up seq anno comments: Helical; Name=11
up seq anno comments: Helical; Name=12
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: Helical; Name=8
up seq anno comments: Helical; Name=9
up seq anno comments: In PHOAD; unknown pathological significance.
up seq anno comments: In PHOAR2 and PHOAD.
up seq anno comments: In PHOAR2 and PHOAD; unknown pathological significance.
up seq anno comments: In PHOAR2.
up seq anno comments: In PHOAR2; reduced activity.
up seq anno comments: In PHOAR2; unknown pathological significance.
up seq anno comments: Kazal-like
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Solute carrier organic anion transporter family member 2A1
up seq anno feature ids: PRO_0000191058
up seq anno feature ids: VAR_053674
up seq anno feature ids: VAR_067598
up seq anno feature ids: VAR_067599
up seq anno feature ids: VAR_068352
up seq anno feature ids: VAR_068636
up seq anno feature ids: VAR_068637
up seq anno feature ids: VAR_068638
up seq anno feature ids: VAR_068639
up seq anno feature ids: VAR_068640
up seq anno feature ids: VAR_068641
up seq anno feature ids: VAR_068642
up seq anno feature ids: VAR_068643
up seq anno feature ids: VAR_068644
up seq anno feature ids: VAR_068645
up seq anno feature ids: VAR_085955
up seq anno feature ids: VAR_085956
up seq anno feature ids: VAR_085957
up seq anno feature ids: VAR_085958
up seq anno feature ids: VAR_085959
up seq anno feature ids: VAR_085960
up seq anno feature ids: VAR_085961
up seq anno feature ids: VAR_085962
up seq anno feature ids: VAR_085963
up seq anno feature ids: VAR_085964

9606:UBL4A
gene id: 9606:UBL4A
uniprot id: P11441
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Loss of polyubiquitination by AMFR.
up seq anno comments: No effect on interaction with BAG6.
up seq anno comments: Phosphoserine
up seq anno comments: Reduces tail-anchored proteins delivery.
up seq anno comments: Required and sufficient for interaction with BAG6
up seq anno comments: Strongly inhibits interaction with BAG6.
up seq anno comments: Ubiquitin-like
up seq anno comments: Ubiquitin-like protein 4A
up seq anno feature ids: PRO_0000114864

9606:KCNA6
gene id: 9606:KCNA6
uniprot id: P17658
up seq anno parent labels: Chain
up seq anno parent labels: INTRAMEM
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: INTRAMEM
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Found in a patient with epilepsy and neurodevelopmental anomalies; unknown pathological significance; affects channel properties resulting in slower channel deactivation.
up seq anno comments: Found in a patient with epilepsy but without evidence of neurodevelopmental impairment; unknown pathological significance; affects channel properties resulting in slower channel deactivation.
up seq anno comments: Found in a patient with neurodevelopmental anomalies; unknown pathological significance.
up seq anno comments: Helical; Name=Pore helix
up seq anno comments: Helical; Name=Segment S1
up seq anno comments: Helical; Name=Segment S2
up seq anno comments: Helical; Name=Segment S3
up seq anno comments: Helical; Name=Segment S5
up seq anno comments: Helical; Name=Segment S6
up seq anno comments: Helical; Voltage-sensor; Name=Segment S4
up seq anno comments: PDZ-binding
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PKA
up seq anno comments: Potassium voltage-gated channel subfamily A member 6
up seq anno comments: S-palmitoyl cysteine
up seq anno comments: S4-S5 linker
up seq anno comments: Selectivity filter
up seq anno feature ids: PRO_0000053990
up seq anno feature ids: VAR_087560
up seq anno feature ids: VAR_087561
up seq anno feature ids: VAR_087562
up seq anno feature ids: VAR_087563

9606:ZNF518A
gene id: 9606:ZNF518A
uniprot id: Q6AHZ1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Zinc finger protein 518A
up seq anno feature ids: PRO_0000240849
up seq anno feature ids: VAR_046310
up seq anno feature ids: VAR_046311
up seq anno feature ids: VSP_019436

9606:LRIG1
gene id: 9606:LRIG1
uniprot id: Q96JA1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Ig-like C2-type 1
up seq anno comments: Ig-like C2-type 2
up seq anno comments: Ig-like C2-type 3
up seq anno comments: In isoform 2.
up seq anno comments: LRR 1
up seq anno comments: LRR 10
up seq anno comments: LRR 11
up seq anno comments: LRR 12
up seq anno comments: LRR 13
up seq anno comments: LRR 14
up seq anno comments: LRR 15
up seq anno comments: LRR 2
up seq anno comments: LRR 3
up seq anno comments: LRR 4
up seq anno comments: LRR 5
up seq anno comments: LRR 6
up seq anno comments: LRR 7
up seq anno comments: LRR 8
up seq anno comments: LRR 9
up seq anno comments: LRRCT
up seq anno comments: LRRNT
up seq anno comments: Leucine-rich repeats and immunoglobulin-like domains protein 1
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000014827
up seq anno feature ids: VAR_031581
up seq anno feature ids: VAR_031582
up seq anno feature ids: VAR_031583
up seq anno feature ids: VAR_031584
up seq anno feature ids: VAR_031585
up seq anno feature ids: VAR_049889
up seq anno feature ids: VAR_049890
up seq anno feature ids: VSP_011730
up seq anno feature ids: VSP_011731

9606:ND4
gene id: 9606:ND4
uniprot id: H9EC08
uniprot id: P03905
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
up seq anno comments: Detected in a patient with mitochondrial complex I deficiency; uncertain pathological significance.
up seq anno comments: Helical
up seq anno comments: In LDYT; possible rare primary mutation; decrease in enzyme activity.
up seq anno comments: In LHON; primary mutation; almost no vision recovery; most frequent mutation; seems to have no effect on electron transfer activity of the complex in inner mitochondrial membrane preparations.
up seq anno comments: In MELAS.
up seq anno comments: NADH-ubiquinone oxidoreductase chain 4
up seq anno comments: NADH:quinone oxidoreductase/Mrp antiporter membrane subunit
up seq anno comments: NADH:ubiquinone oxidoreductase chain 4 N-terminal
up seq anno feature ids: PRO_0000117942
up seq anno feature ids: VAR_004759
up seq anno feature ids: VAR_004760
up seq anno feature ids: VAR_008393
up seq anno feature ids: VAR_008599
up seq anno feature ids: VAR_008600
up seq anno feature ids: VAR_008601
up seq anno feature ids: VAR_008602
up seq anno feature ids: VAR_064565

9606:ZNRF4
gene id: 9606:ZNRF4
uniprot id: Q8WWF5
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Zinc Finger
up seq anno comments: Abolished E3 ubiquitin-protein ligase activity.
up seq anno comments: Abolishes glycosylation; when associated with S-107 and S-152.
up seq anno comments: Abolishes glycosylation; when associated with S-107 and S-229.
up seq anno comments: Abolishes glycosylation; when associated with S-152 and S-229.
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: E3 ubiquitin-protein ligase ZNRF4
up seq anno comments: Helical
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: PA
up seq anno comments: RING-type; atypical
up seq anno feature ids: PRO_0000277861
up seq anno feature ids: VAR_030611
up seq anno feature ids: VAR_030612
up seq anno feature ids: VAR_030613
up seq anno feature ids: VAR_030614
up seq anno feature ids: VAR_030615
up seq anno feature ids: VAR_030616
up seq anno feature ids: VAR_030617
up seq anno feature ids: VAR_030618

9606:STXBP3
gene id: 9606:STXBP3
uniprot id: O00186
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Mediates interaction with DOC2B
up seq anno comments: Syntaxin-binding protein 3
up seq anno feature ids: PRO_0000206285
up seq anno feature ids: VAR_017570
up seq anno feature ids: VAR_017571
up seq anno feature ids: VAR_052470

9606:CYSTM1
gene id: 9606:CYSTM1
uniprot id: Q9H1C7
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
up seq anno comments: Cysteine-rich and transmembrane domain-containing protein 1
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000296358
up seq anno feature ids: VAR_034629

9606:CRYGB
gene id: 9606:CRYGB
uniprot id: P07316
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Beta/gamma crystallin 'Greek key' 1
up seq anno comments: Beta/gamma crystallin 'Greek key' 2
up seq anno comments: Beta/gamma crystallin 'Greek key' 3
up seq anno comments: Beta/gamma crystallin 'Greek key' 4
up seq anno comments: Connecting peptide
up seq anno comments: Gamma-crystallin B
up seq anno feature ids: PRO_0000057586
up seq anno feature ids: VAR_021140
up seq anno feature ids: VAR_021141
up seq anno feature ids: VAR_029517

9606:SCN11A
gene id: 9606:SCN11A
uniprot id: Q9UI33
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: INTRAMEM
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: INTRAMEM
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=S1 of repeat I
up seq anno comments: Helical; Name=S1 of repeat II
up seq anno comments: Helical; Name=S1 of repeat III
up seq anno comments: Helical; Name=S1 of repeat IV
up seq anno comments: Helical; Name=S2 of repeat I
up seq anno comments: Helical; Name=S2 of repeat II
up seq anno comments: Helical; Name=S2 of repeat III
up seq anno comments: Helical; Name=S2 of repeat IV
up seq anno comments: Helical; Name=S3 of repeat I
up seq anno comments: Helical; Name=S3 of repeat II
up seq anno comments: Helical; Name=S3 of repeat III
up seq anno comments: Helical; Name=S3 of repeat IV
up seq anno comments: Helical; Name=S5 of repeat I
up seq anno comments: Helical; Name=S5 of repeat II
up seq anno comments: Helical; Name=S5 of repeat III
up seq anno comments: Helical; Name=S5 of repeat IV
up seq anno comments: Helical; Name=S6 of repeat I
up seq anno comments: Helical; Name=S6 of repeat II
up seq anno comments: Helical; Name=S6 of repeat III
up seq anno comments: Helical; Name=S6 of repeat IV
up seq anno comments: Helical; Voltage-sensor; Name=S4 of repeat I
up seq anno comments: Helical; Voltage-sensor; Name=S4 of repeat II
up seq anno comments: Helical; Voltage-sensor; Name=S4 of repeat III
up seq anno comments: Helical; Voltage-sensor; Name=S4 of repeat IV
up seq anno comments: I
up seq anno comments: II
up seq anno comments: III
up seq anno comments: IV
up seq anno comments: In FEPS3.
up seq anno comments: In FEPS3; causes hyperexcitability of dorsal root ganglion neurons; hyperpolarizes channel activation; slows deactivation; depolarizes steady-state fast-inactivation.
up seq anno comments: In FEPS3; increased voltage-gated sodium channel activity; causes hyperexcitability of dorsal root ganglion neurons; depolarizes resting membrane potential; enhances spontaneous firing; hyperpolarizes channel activation; slows deactivation; decreases rates of current decay; does not change slow-inactivation.
up seq anno comments: In FEPS3; increased voltage-gated sodium channel activity; slows deactivation; depolarizes resting membrane potential; enhances spontaneous firing; decreases rates of current decay; does not change fast-inactivation; does not change slow-inactivation.
up seq anno comments: In HSAN7; cold-aggravated peripheral pain seen in some patients; enhances the channel activity by shifting the voltage dependence of channel opening to hyperpolarized potentials thereby giving rise to hyperexcitability of nociceptors; causes hyperexcitability and reduced cold-sensitivity of dorsal root ganglion neurons.
up seq anno comments: In HSAN7; increased voltage-gated sodium channel activity; results in excessive channel activity at resting voltages; causes sustained depolarization of nociceptors and impaired generation of action potentials; causes aberrant synaptic transmission; causes transient hyperexcitability of dorsal root ganglion neurons.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Pore-forming
up seq anno comments: Sodium channel protein type 11 subunit alpha
up seq anno feature ids: PRO_0000048510
up seq anno feature ids: VAR_030002
up seq anno feature ids: VAR_030003
up seq anno feature ids: VAR_030004
up seq anno feature ids: VAR_048697
up seq anno feature ids: VAR_070919
up seq anno feature ids: VAR_070920
up seq anno feature ids: VAR_070921
up seq anno feature ids: VAR_075250
up seq anno feature ids: VAR_076679
up seq anno feature ids: VAR_076680
up seq anno feature ids: VAR_076681

9606:HTN1
gene id: 9606:HTN1
uniprot id: P15515
up seq anno parent labels: Experimental Information
up seq anno parent labels: Mass
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Peptide
up seq anno parent labels: Signal Peptide
up seq anno labels: Mass
up seq anno labels: Modified Residue
up seq anno labels: Peptide
up seq anno labels: Signal Peptide
up seq anno comments: His1-(31-57)-peptide
up seq anno comments: Histatin-1
up seq anno comments: Not post-translationally modified.
up seq anno comments: Phosphoserine
up seq anno comments: Sulfotyrosine; in submandibular gland form
up seq anno comments: with 1 phosphate group and 1 sulfate group.
up seq anno comments: with 1 phosphate group and 2 sulfate groups.
up seq anno comments: with 1 phosphate group and 3 sulfate groups.
up seq anno comments: with 1 phosphate group and 4 sulfate groups.
up seq anno comments: with 1 phosphate group.
up seq anno feature ids: PRO_0000021416
up seq anno feature ids: PRO_0000021417

9606:LRRC17
gene id: 9606:LRRC17
uniprot id: Q8N6Y2
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: LRR 1
up seq anno comments: LRR 2
up seq anno comments: LRR 3
up seq anno comments: LRR 4
up seq anno comments: LRR 5
up seq anno comments: LRR 6
up seq anno comments: LRRCT 1
up seq anno comments: LRRCT 2
up seq anno comments: LRRNT
up seq anno comments: Leucine-rich repeat-containing protein 17
up seq anno feature ids: PRO_0000021608
up seq anno feature ids: VAR_051103
up seq anno feature ids: VAR_051104
up seq anno feature ids: VAR_051105
up seq anno feature ids: VSP_011424
up seq anno feature ids: VSP_011425

9606:ST3GAL6
gene id: 9606:ST3GAL6
uniprot id: A0A087WXB8
uniprot id: Q9Y274
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In isoform 2.
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Type 2 lactosamine alpha-2,3-sialyltransferase
up seq anno feature ids: PRO_0000149305
up seq anno feature ids: VAR_049227
up seq anno feature ids: VSP_047009
up seq anno feature ids: VSP_047010

9606:RANGRF
gene id: 9606:RANGRF
uniprot id: Q9HD47
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Decreased binding to RAN.
up seq anno comments: Decreased binding to RAN. Abolishes binding to RAN; when associated with K-50.
up seq anno comments: Found in patients with Brugada syndrome; loss of function in enhancing the expression of SCN5A at the cell membrane; unknown pathological significance.
up seq anno comments: Found in patients with cardiac arrhythmia and in patients with Brugada syndrome; loss of function in enhancing the expression of SCN5A at the cell membrane; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Interaction with RAN
up seq anno comments: Ran guanine nucleotide release factor
up seq anno comments: Strongly decreased binding to RAN. Abolishes binding to RAN; when associated with K-53.
up seq anno feature ids: PRO_0000330636
up seq anno feature ids: VAR_080079
up seq anno feature ids: VAR_080080
up seq anno feature ids: VSP_033057
up seq anno feature ids: VSP_033058
up seq anno feature ids: VSP_033059
up seq anno feature ids: VSP_033060
up seq anno feature ids: VSP_033061

9606:DHX35
gene id: 9606:DHX35
uniprot id: Q9H5Z1
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Motif
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: DEAH box
up seq anno comments: Helicase ATP-binding
up seq anno comments: Helicase C-terminal
up seq anno comments: In isoform 2.
up seq anno comments: Probable ATP-dependent RNA helicase DHX35
up seq anno feature ids: PRO_0000055168
up seq anno feature ids: VAR_020211
up seq anno feature ids: VAR_052184
up seq anno feature ids: VSP_047178

9606:XPO7
gene id: 9606:XPO7
uniprot id: Q9UIA9
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Exportin-7
up seq anno comments: Importin N-terminal
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000204713
up seq anno feature ids: VAR_026526
up seq anno feature ids: VAR_026527

9606:GCOM1
gene id: 9606:GCOM1
uniprot id: H8Y6P7
uniprot id: P0CAP1
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 10.
up seq anno comments: In isoform 11.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 4 and isoform 9.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: In isoform 7.
up seq anno comments: In isoform 8.
up seq anno comments: In isoform 9 and isoform 3.
up seq anno comments: In isoform 9.
up seq anno comments: Myocardial zonula adherens protein
up seq anno comments: No effect on DYNLL1-binding.
up seq anno comments: No effect on DYNLL1-binding; when associated with G-436.
up seq anno comments: No effect on DYNLL1-binding; when associated with G-448.
up seq anno comments: Polar residues
up seq anno comments: Required for DYNLL1-binding
up seq anno feature ids: PRO_0000376013
up seq anno feature ids: VAR_055453
up seq anno feature ids: VSP_037389
up seq anno feature ids: VSP_037390
up seq anno feature ids: VSP_037391
up seq anno feature ids: VSP_037392
up seq anno feature ids: VSP_037393
up seq anno feature ids: VSP_037394
up seq anno feature ids: VSP_037395
up seq anno feature ids: VSP_037396
up seq anno feature ids: VSP_037397
up seq anno feature ids: VSP_037398

9606:CNTNAP4
gene id: 9606:CNTNAP4
uniprot id: A0A087WTA1
uniprot id: Q86YZ8
uniprot id: Q9C0A0
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Contactin-associated protein-like 4
up seq anno comments: Cytoplasmic
up seq anno comments: EGF-like
up seq anno comments: EGF-like 1
up seq anno comments: EGF-like 2
up seq anno comments: Extracellular
up seq anno comments: F5/8 type C
up seq anno comments: Fibrinogen C-terminal
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Laminin G
up seq anno comments: Laminin G-like 1
up seq anno comments: Laminin G-like 2
up seq anno comments: Laminin G-like 3
up seq anno comments: Laminin G-like 4
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000019510
up seq anno feature ids: PRO_5001831894
up seq anno feature ids: PRO_5004302649
up seq anno feature ids: VAR_050268
up seq anno feature ids: VAR_050269
up seq anno feature ids: VAR_050270
up seq anno feature ids: VAR_061371
up seq anno feature ids: VAR_061372
up seq anno feature ids: VSP_044464
up seq anno feature ids: VSP_044465

9606:NEU3
gene id: 9606:NEU3
uniprot id: Q9UQ49
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: BNR 1
up seq anno comments: BNR 2
up seq anno comments: BNR 3
up seq anno comments: Decreases enzyme activity.
up seq anno comments: Decreases the recruitment within caveola.
up seq anno comments: Disordered
up seq anno comments: FRIP motif
up seq anno comments: In isoform 2.
up seq anno comments: Loss of enzyme activity.
up seq anno comments: Markedly decreases enzyme activity.
up seq anno comments: Markedly decreases the recruitment within caveola.
up seq anno comments: Nearly abolishes enzyme activity.
up seq anno comments: Nucleophile
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Proton acceptor
up seq anno comments: Sialidase-3
up seq anno feature ids: PRO_0000208903
up seq anno feature ids: VAR_055839
up seq anno feature ids: VSP_054145

9606:AOX1
gene id: 9606:AOX1
uniprot id: Q06278
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 2Fe-2S ferredoxin-type
up seq anno comments: Aldehyde oxidase
up seq anno comments: Decreases homodimerization but nearly no effect on kinetic parameters.
up seq anno comments: Disrupts protein stability.
up seq anno comments: FAD-binding PCMH-type
up seq anno comments: Increases homodimerization and turnover number with phenanthridine as substrate; nearly no effect on kinetic parameters with benzaldehyde, phtalazine and chloroquinazolinone as substrate.
up seq anno comments: Increases homodimerization; abolishes enzymatic activity on phenanthridine; decreases turnover number with benzaldehyde, phtalazine and chloroquinazolinone as substrate, while nearly no effect on the KM.
up seq anno comments: No effect on dimerization. Loss of oxidase activity.
up seq anno comments: No effect on dimerization; no effect on oxidase activity.
up seq anno comments: Phosphoserine
up seq anno comments: Proton acceptor; for azaheterocycle hydroxylase activity
up seq anno feature ids: PRO_0000166104
up seq anno feature ids: VAR_047517
up seq anno feature ids: VAR_047518
up seq anno feature ids: VAR_061136
up seq anno feature ids: VAR_070256
up seq anno feature ids: VAR_070257
up seq anno feature ids: VAR_070258

9606:NHSL2
gene id: 9606:NHSL2
uniprot id: Q5HYW2
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: NHS-like protein 2
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000341355
up seq anno feature ids: VAR_044057
up seq anno feature ids: VSP_060098
up seq anno feature ids: VSP_060099

9606:RPS12
gene id: 9606:RPS12
uniprot id: P25398
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: N-acetylalanine
up seq anno comments: N6-succinyllysine
up seq anno comments: Removed
up seq anno comments: Small ribosomal subunit protein eS12
up seq anno feature ids: PRO_0000122323

9606:HEXA
gene id: 9606:HEXA
uniprot id: A0A0S2Z3W3
uniprot id: B4DVA7
uniprot id: H3BP20
uniprot id: P06865
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Beta-hexosaminidase
up seq anno comments: Beta-hexosaminidase eukaryotic type N-terminal
up seq anno comments: Beta-hexosaminidase subunit alpha
up seq anno comments: Critical for hydrolysis GM2 gangliosides
up seq anno comments: Glycoside hydrolase family 20 catalytic
up seq anno comments: In GM2G1.
up seq anno comments: In GM2G1; infantile.
up seq anno comments: In GM2G1; infantile; Moroccan Jewish.
up seq anno comments: In GM2G1; infantile; inactive or unstable protein.
up seq anno comments: In GM2G1; infantile; inactive protein.
up seq anno comments: In GM2G1; infantile; loss of processing to a mature form; increased degradation.
up seq anno comments: In GM2G1; juvenile.
up seq anno comments: In GM2G1; juvenile; fails to associate with the beta-subunit to form the enzymatically active heterodimer.
up seq anno comments: In GM2G1; late infantile.
up seq anno comments: In GM2G1; late onset; inhibited subunit dissociation; loss of processing to a mature form; increased degradation.
up seq anno comments: In GM2G1; mild; associated with spinal muscular atrophy.
up seq anno comments: In GM2G1; subacute.
up seq anno comments: In GM2G1; unknown pathological significance.
up seq anno comments: In HEXA pseudodeficiency.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No change of the catalytic activity associated with the alpha-chain. No catalytic activity associated with the alpha-chain; when associated with Q-115 and Q-157.
up seq anno comments: No change of the catalytic activity associated with the alpha-chain. No catalytic activity associated with the alpha-chain; when associated with Q-115 and Q-295.
up seq anno comments: No change of the catalytic activity associated with the alpha-chain. No catalytic activity associated with the alpha-chain; when associated with Q-157 and Q-295.
up seq anno comments: Proton donor
up seq anno comments: beta-N-acetylhexosaminidase
up seq anno feature ids: PRO_0000011993
up seq anno feature ids: PRO_0000011994
up seq anno feature ids: PRO_5002803588
up seq anno feature ids: PRO_5003581447
up seq anno feature ids: PRO_5006608223
up seq anno feature ids: VAR_003202
up seq anno feature ids: VAR_003203
up seq anno feature ids: VAR_003204
up seq anno feature ids: VAR_003205
up seq anno feature ids: VAR_003206
up seq anno feature ids: VAR_003207

9606:HCAR2
gene id: 9606:HCAR2
uniprot id: A0A4Y1JWQ0
uniprot id: Q8TDS4
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: Hydroxycarboxylic acid receptor 2
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000069603
up seq anno feature ids: VAR_038713
up seq anno feature ids: VAR_038714
up seq anno feature ids: VAR_049400
up seq anno feature ids: VAR_049401

9606:PPP1R26
gene id: 9606:PPP1R26
uniprot id: Q5T8A7
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Protein phosphatase 1 regulatory subunit 26
up seq anno feature ids: PRO_0000309218
up seq anno feature ids: VAR_036906
up seq anno feature ids: VAR_036907
up seq anno feature ids: VAR_036908
up seq anno feature ids: VAR_036909
up seq anno feature ids: VAR_036910
up seq anno feature ids: VAR_036911
up seq anno feature ids: VAR_036912

9606:CCNE1
gene id: 9606:CCNE1
uniprot id: A0A0G3DHS8
uniprot id: P24864
uniprot id: V5W5X2
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Cyclin C-terminal
up seq anno comments: Cyclin N-terminal
up seq anno comments: Disordered
up seq anno comments: G1/S-specific cyclin-E1
up seq anno comments: In isoform 3.
up seq anno comments: In isoform E1S.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CDK2
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by GSK3
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000080449
up seq anno feature ids: VSP_001253
up seq anno feature ids: VSP_037381

9606:TENM1
gene id: 9606:TENM1
uniprot id: B7ZMH4
uniprot id: Q9UKZ4
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Cleavage
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: EGF-like
up seq anno comments: EGF-like 1
up seq anno comments: EGF-like 2
up seq anno comments: EGF-like 3
up seq anno comments: EGF-like 4
up seq anno comments: EGF-like 5
up seq anno comments: EGF-like 6
up seq anno comments: EGF-like 7
up seq anno comments: EGF-like 8
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: NHL 1
up seq anno comments: NHL 2
up seq anno comments: NHL 3
up seq anno comments: NHL 4
up seq anno comments: NHL 5
up seq anno comments: Nuclear localization signal (NLS)
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Required for interaction with SORBS1 (Ten-1 ICD form)
up seq anno comments: Ten-1 intracellular domain
up seq anno comments: Teneurin C-terminal-associated peptide
up seq anno comments: Teneurin N-terminal
up seq anno comments: Teneurin-1
up seq anno comments: YD 1
up seq anno comments: YD 10
up seq anno comments: YD 11
up seq anno comments: YD 12
up seq anno comments: YD 13
up seq anno comments: YD 14
up seq anno comments: YD 15
up seq anno comments: YD 16
up seq anno comments: YD 17

9606:DHRS4L2
gene id: 9606:DHRS4L2
uniprot id: Q6PKH6
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Dehydrogenase/reductase SDR family member 4-like 2
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000312103
up seq anno feature ids: VAR_037395
up seq anno feature ids: VSP_029697

9606:BDH1
gene id: 9606:BDH1
uniprot id: Q02338
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Transit Peptide
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Transit Peptide
up seq anno comments: D-beta-hydroxybutyrate dehydrogenase, mitochondrial
up seq anno comments: Mitochondrion
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: O-linked (GlcNAc) serine
up seq anno comments: Phosphoserine
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000031960

9606:LDLRAD3
gene id: 9606:LDLRAD3
uniprot id: Q86YD5
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Does not affect interaction with ITCH; when associated with A-257. Loss of interaction with ITCH; when associated with A-257; A-276; A-277 and A-278.
up seq anno comments: Does not affect interaction with ITCH; when associated with A-259. Loss of interaction with ITCH; when associated with A-259; A-276; A-277 and A-278.
up seq anno comments: Does not affect interaction with ITCH; when associated with A-276 and A-277.Loss of interaction with ITCH; when associated with A-257; A-259; A-276 and A-277.
up seq anno comments: Does not affect interaction with ITCH; when associated with A-276 and A-278.Loss of interaction with ITCH; when associated with A-257; A-259; A-276 and A-278.
up seq anno comments: Does not affect interaction with ITCH; when associated with A-277 and A-278. Loss of interaction with ITCH; when associated with A-257; A-259; A-277 and A-278.
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Involved in ITCH interaction
up seq anno comments: LDL-receptor class A 1
up seq anno comments: LDL-receptor class A 2
up seq anno comments: LDL-receptor class A 3
up seq anno comments: Loss of infection by Venezuelan equine encephalitis virus.
up seq anno comments: Low-density lipoprotein receptor class A domain-containing protein 3
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000299378
up seq anno feature ids: VSP_056254

9606:OR2T34
gene id: 9606:OR2T34
uniprot id: Q8NGX1
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 2T34
up seq anno feature ids: PRO_0000150508
up seq anno feature ids: VAR_067439

9606:MAST3
gene id: 9606:MAST3
uniprot id: O60307
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: AGC-kinase C-terminal
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Disordered
up seq anno comments: Found in a patient with autism spectrum disorder without history of seizures; unknown pathological significance.
up seq anno comments: In DEE108.
up seq anno comments: In DEE108; unknown pathological significance.
up seq anno comments: Microtubule-associated serine/threonine-protein kinase 3
up seq anno comments: PDZ
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000086314
up seq anno feature ids: VAR_040786
up seq anno feature ids: VAR_051646
up seq anno feature ids: VAR_051647
up seq anno feature ids: VAR_087834
up seq anno feature ids: VAR_087835
up seq anno feature ids: VAR_087836
up seq anno feature ids: VAR_087837
up seq anno feature ids: VAR_087838
up seq anno feature ids: VAR_087839
up seq anno feature ids: VAR_087840
up seq anno feature ids: VAR_087841

9606:TRIM77
gene id: 9606:TRIM77
uniprot id: I1YAP6
uniprot id: I1YAP7
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Site
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Non-terminal Residue
up seq anno labels: Zinc Finger
up seq anno comments: B box-type
up seq anno comments: B30.2/SPRY
up seq anno comments: RING-type
up seq anno comments: Tripartite motif-containing protein 77
up seq anno feature ids: PRO_0000421830

9606:SMAD3
gene id: 9606:SMAD3
uniprot id: P84022
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Decreased activity.
up seq anno comments: Decreased monoubiquitination.
up seq anno comments: Diminishes cargo protein export.
up seq anno comments: Disordered
up seq anno comments: Does not abolish protein nuclear export. Abolishes almost completely acetylation.
up seq anno comments: Forms heterotrimers.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Greatly reduced acetylation and 85% reduction in transcriptional activity. Completely abolishes acetylation and 97% reduction in transcriptional activity; when associated with R-333; R-341 and R-409.
up seq anno comments: Greatly reduced interaction with DNA and JUN. Abolishes interaction with DNA and JUN; when associated with A-40; A-44 and A-43.
up seq anno comments: In LDS3.
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Increased constitutive activity.
up seq anno comments: Increased transcriptional activity. Further increased transcriptional activity; when associated with S-208.
up seq anno comments: Increased transcriptional activity. No further increase in transcriptional activity with EP300.
up seq anno comments: Linker
up seq anno comments: Little effect on interaction with DNA or JUN. Abolishes interaction with DNA and JUN; when associated with A-40; A-41 and A-44.
up seq anno comments: Little effect on interaction with DNA or JUN. Abolishes interaction with DNA and JUN; when associated with A-41; A-43 and A-44.
up seq anno comments: Little effect on interaction with DNA or JUN. Abolishes interaction with JUN; when associated with A-40; A-41 and A-43.
up seq anno comments: MH1
up seq anno comments: MH2
up seq anno comments: Mothers against decapentaplegic homolog 3
up seq anno comments: N-acetylserine
up seq anno comments: N6-acetyllysine
up seq anno comments: No effect on acetylation. Completely abolishes acetylation and 97% reduction in transcriptional activity; when associated with R-333; R-341 and R-378.
up seq anno comments: No effect on acetylation. Completely abolishes acetylation and 97% reduction in transcriptional activity; when associated with R-333; R-378 and R-409.
up seq anno comments: No effect on acetylation. Completely abolishes acetylation and 97% reduction in transcriptional activity; when associated with R-341; R-378 and R-409.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CDK2 and CDK4
up seq anno comments: Phosphoserine; by CK1
up seq anno comments: Phosphoserine; by GSK3 and MAPK
up seq anno comments: Phosphoserine; by MAPK
up seq anno comments: Phosphoserine; by TGFBR1
up seq anno comments: Phosphothreonine; by CDK2 and CDK4
up seq anno comments: Phosphothreonine; by CDK2, CDK4 and MAPK
up seq anno comments: Reduced interaction with JUN. Loss of transcriptional activity and cooperation with JUN.
up seq anno comments: Reduced phosphorylation, increased transcriptional and antiproliferative activities. Further increase in transcriptional and antiproliferative activities; when associated with V-179 and A-213.
up seq anno comments: Reduced phosphorylation, increased transcriptional and increased antiproliferative activities. Further increase in transcriptional and antiproliferative activities; when associated with V-8 and A-213.
up seq anno comments: Reduced phosphorylation. Increased transcriptional and antiproliferative activities. Further increase in transcriptional and antiproliferative activities; when associated with V-8 and V-179.
up seq anno comments: Removed
up seq anno comments: Required for interaction with DNA and JUN and for functional cooperation with JUN
up seq anno comments: Required for trimerization
up seq anno comments: Slightly decreased monoubiquitination.

9606:ETS2
gene id: 9606:ETS2
uniprot id: P15036
up seq anno parent labels: Chain
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: ETS
up seq anno comments: PNT
up seq anno comments: Phosphoserine
up seq anno comments: Protein C-ets-2
up seq anno feature ids: PRO_0000204077

9606:PLAAT1
gene id: 9606:PLAAT1
uniprot id: Q9HDD0
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Acyl-thioester intermediate
up seq anno comments: Cytoplasmic
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: LRAT
up seq anno comments: Lumenal
up seq anno comments: Phospholipase A and acyltransferase 1
up seq anno feature ids: PRO_0000152481
up seq anno feature ids: VSP_060190

9606:MEP1B
gene id: 9606:MEP1B
uniprot id: J3QKX5
uniprot id: Q16820
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Abolishes secretion.
up seq anno comments: Cytoplasmic
up seq anno comments: Decreased activity toward gastrin.
up seq anno comments: EGF-like
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Interchain
up seq anno comments: MAM
up seq anno comments: MATH
up seq anno comments: Mediates preference for acidic residues at subsite P1'
up seq anno comments: Meprin A subunit
up seq anno comments: Meprin A subunit beta
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: O-linked (GalNAc...) serine
up seq anno comments: O-linked (GalNAc...) threonine
up seq anno comments: Peptidase M12A
up seq anno comments: Required for proteolytic processing
up seq anno feature ids: PRO_0000028883
up seq anno feature ids: PRO_0000028884
up seq anno feature ids: PRO_5013983298
up seq anno feature ids: VAR_057064
up seq anno feature ids: VAR_057065
up seq anno feature ids: VAR_069387

9606:ST8SIA3
gene id: 9606:ST8SIA3
uniprot id: O43173
uniprot id: Q59GW3
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Abolishes enzyme activity.
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: N-linked (GlcNAc...) asparagine; atypical
up seq anno comments: Pro residues
up seq anno comments: Proton donor/acceptor
up seq anno comments: Sia-alpha-2,3-Gal-beta-1,4-GlcNAc-R:alpha 2,8-sialyltransferase
up seq anno feature ids: PRO_0000149289
up seq anno feature ids: VAR_020249

9606:SMYD5
gene id: 9606:SMYD5
uniprot id: Q6GMV2
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Zinc Finger
up seq anno comments: Acidic residues
up seq anno comments: Disordered
up seq anno comments: Histone-lysine N-trimethyltransferase SMYD5
up seq anno comments: MYND-type
up seq anno comments: SET
up seq anno feature ids: PRO_0000227788

9606:NADK2
gene id: 9606:NADK2
uniprot id: Q4G0N4
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Mitochondrion
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-succinyllysine
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: NAD kinase 2, mitochondrial
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000296292
up seq anno feature ids: VSP_027192
up seq anno feature ids: VSP_027193

9606:CHMP2A
gene id: 9606:CHMP2A
uniprot id: M0R1T5
uniprot id: O43633
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno comments: Abolishes interaction with VTA1.
up seq anno comments: Charged multivesicular body protein 2a
up seq anno comments: Diminishes interaction with VPS4B.
up seq anno comments: Diminishes interaction with VTA1.
up seq anno comments: Interaction with VPS4B
up seq anno comments: Interaction with VTA1
up seq anno comments: MIT-interacting motif
up seq anno comments: Membrane association; releases autoinhibition.
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000211462

9606:SGO1
gene id: 9606:SGO1
uniprot id: B5BUA4
uniprot id: Q5FBB7
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Basic and acidic residues
up seq anno comments: D-box 1
up seq anno comments: D-box 2
up seq anno comments: D-box 3
up seq anno comments: Disordered
up seq anno comments: Disrupts interaction with CBX5, loss of localization to centromeres in interphase, no effect on localization to centromeres in mitosis; when associated with A-451 and A-453.
up seq anno comments: Disrupts interaction with CBX5, loss of localization to centromeres in interphase, no effect on localization to centromeres in mitosis; when associated with A-451 and A-455.
up seq anno comments: Disrupts interaction with CBX5, loss of localization to centromeres in interphase, no effect on localization to centromeres in mitosis; when associated with A-453 and A-455.
up seq anno comments: In CAID; patient fibroblasts exhibit significantly faster cell proliferation than controls; during mitosis the mutant protein is localized in an ordered fashion around the centromeres but display a rather homogeneous cytoplasmic localization pattern.
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 3 and isoform 5.
up seq anno comments: In isoform 4, isoform 5 and isoform 6.
up seq anno comments: In isoform 7.
up seq anno comments: KEN box
up seq anno comments: Loss of centromeric localization.
up seq anno comments: Loss of interaction with PPP2CA and PPP2R1A and loss of centromeric localization.
up seq anno comments: Loss of phosphorylation and presence of misaligned chromosomes; when associated with A-507.
up seq anno comments: Loss of phosphorylation; and presence of misaligned chromosomes; when associated with A-14.
up seq anno comments: Loss of proper localization to spindle pole and mitotic spindle. Significant increase in split spindle poles.
up seq anno comments: Necessary for interaction with PPP2CA and PPP2R1A
up seq anno comments: PXVXL/I motif
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by NEK2
up seq anno comments: Polar residues
up seq anno comments: Shugoshin 1
up seq anno comments: Shugoshin C-terminal
up seq anno comments: Shugoshin N-terminal coiled-coil
up seq anno feature ids: PRO_0000055436
up seq anno feature ids: VAR_051968
up seq anno feature ids: VAR_051969
up seq anno feature ids: VAR_072709
up seq anno feature ids: VSP_016790
up seq anno feature ids: VSP_016791
up seq anno feature ids: VSP_016792
up seq anno feature ids: VSP_016793
up seq anno feature ids: VSP_016794
up seq anno feature ids: VSP_016795

9606:CANX
gene id: 9606:CANX
uniprot id: P27824
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: 1-1
up seq anno comments: 1-2
up seq anno comments: 1-3
up seq anno comments: 1-4
up seq anno comments: 2-1
up seq anno comments: 2-2
up seq anno comments: 2-3
up seq anno comments: 2-4
up seq anno comments: 4 X approximate repeats
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Calnexin
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Interaction with PPIB
up seq anno comments: Lumenal
up seq anno comments: N6-acetyllysine
up seq anno comments: P domain (Extended arm)
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by MAPK3
up seq anno comments: Phosphothreonine
up seq anno comments: S-palmitoyl cysteine
up seq anno comments: Sufficient to mediate interaction with SGIP1
up seq anno feature ids: PRO_0000004198
up seq anno feature ids: VSP_055515
up seq anno feature ids: VSP_055516

9606:SYTL4
gene id: 9606:SYTL4
uniprot id: A8K973
uniprot id: B2R7R4
uniprot id: Q71SF7
uniprot id: Q96C24
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: C2
up seq anno comments: C2 1
up seq anno comments: C2 2
up seq anno comments: Disordered
up seq anno comments: FYVE-type
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: RabBD
up seq anno comments: Synaptotagmin-like protein 4
up seq anno feature ids: PRO_0000190216
up seq anno feature ids: VAR_016076
up seq anno feature ids: VSP_015237
up seq anno feature ids: VSP_015238

9606:GSG1L
gene id: 9606:GSG1L
uniprot id: B3KY67
uniprot id: Q6UXU4
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Germ cell-specific gene 1-like protein
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: In isoform 3.
up seq anno feature ids: PRO_0000329464
up seq anno feature ids: VSP_033004
up seq anno feature ids: VSP_033516
up seq anno feature ids: VSP_033517

9606:CLCNKB
gene id: 9606:CLCNKB
uniprot id: A8K8H0
uniprot id: P51801
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: INTRAMEM
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: INTRAMEM
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: CBS
up seq anno comments: CBS 1
up seq anno comments: CBS 2
up seq anno comments: Chloride channel protein ClC-Kb
up seq anno comments: Cytoplasmic
up seq anno comments: Helical
up seq anno comments: In BARTS3.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000094459
up seq anno feature ids: VAR_001624
up seq anno feature ids: VAR_001625
up seq anno feature ids: VAR_001626
up seq anno feature ids: VAR_001627
up seq anno feature ids: VAR_001628
up seq anno feature ids: VAR_014466
up seq anno feature ids: VAR_014467
up seq anno feature ids: VAR_014468
up seq anno feature ids: VAR_014469
up seq anno feature ids: VAR_024409
up seq anno feature ids: VAR_033770
up seq anno feature ids: VAR_033771
up seq anno feature ids: VAR_033772
up seq anno feature ids: VAR_033773
up seq anno feature ids: VAR_046797
up seq anno feature ids: VAR_046799
up seq anno feature ids: VAR_046800
up seq anno feature ids: VAR_046801
up seq anno feature ids: VAR_069104
up seq anno feature ids: VSP_045965
up seq anno feature ids: VSP_045966
up seq anno feature ids: VSP_045967

9606:ICA1
gene id: 9606:ICA1
uniprot id: Q05084
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: AH
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Islet cell autoantigen 1
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000084130
up seq anno feature ids: VSP_047761
up seq anno feature ids: VSP_055405

9606:DTNA
gene id: 9606:DTNA
uniprot id: B7Z3X3
uniprot id: Q9Y4J8
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Zinc Finger
up seq anno comments: Disordered
up seq anno comments: Dystrobrevin alpha
up seq anno comments: In LVNC1; unknown pathological significance.
up seq anno comments: In isoform 10.
up seq anno comments: In isoform 11.
up seq anno comments: In isoform 12.
up seq anno comments: In isoform 14.
up seq anno comments: In isoform 15.
up seq anno comments: In isoform 17.
up seq anno comments: In isoform 2, isoform 5, isoform 8, isoform 13, isoform 14, isoform 15 and isoform 16.
up seq anno comments: In isoform 3, isoform 4, isoform 5, isoform 8, isoform 12 and isoform 16.
up seq anno comments: In isoform 4, isoform 6, isoform 8, isoform 9, isoform 10, isoform 11, isoform 13, isoform 14, isoform 15, isoform 16 and isoform 17.
up seq anno comments: In isoform 6, isoform 8, isoform 10 and isoform 11.
up seq anno comments: In isoform 6.
up seq anno comments: In isoform 7 and isoform 9.
up seq anno comments: Interaction with MAGEE1
up seq anno comments: Phosphoserine
up seq anno comments: Syntrophin-binding region
up seq anno comments: ZZ-type
up seq anno feature ids: PRO_0000080036
up seq anno feature ids: VAR_026744
up seq anno feature ids: VAR_055320
up seq anno feature ids: VSP_004206
up seq anno feature ids: VSP_004207
up seq anno feature ids: VSP_004208
up seq anno feature ids: VSP_004209
up seq anno feature ids: VSP_004210
up seq anno feature ids: VSP_004211
up seq anno feature ids: VSP_004212
up seq anno feature ids: VSP_004213
up seq anno feature ids: VSP_043824
up seq anno feature ids: VSP_045444
up seq anno feature ids: VSP_047532
up seq anno feature ids: VSP_054816
up seq anno feature ids: VSP_054817
up seq anno feature ids: VSP_061450

9606:GEN1
gene id: 9606:GEN1
uniprot id: Q17RS7
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 5'-3' exonuclease domain
up seq anno comments: Abolishes endonuclease activity on both Hollyday junctions and 5' flap substrates.
up seq anno comments: Abolishes endonuclease activity.
up seq anno comments: Chromodomain
up seq anno comments: Flap endonuclease GEN homolog 1
up seq anno comments: Found in a renal cell carcinoma case; somatic mutation.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: No effect on endonuclease activity on Hollyday junctions. Slightly reduces endonuclease activity on 5' flap substrates.
up seq anno comments: No effect on endonuclease activity on both Hollyday junctions and 5' flap substrates.
up seq anno comments: Phosphoserine
up seq anno comments: Reduces by 25% endonuclease activity on Hollyday junctions and by 65% on 5' flap substrates.
up seq anno comments: Reduces by 50% endonuclease activity on both Hollyday junctions and 5' flap substrates.
up seq anno comments: Strongly reduces endonuclease activity on both Hollyday junctions and 5' flap substrates.
up seq anno comments: XPG-I domain
up seq anno comments: XPG-N domain
up seq anno feature ids: PRO_0000314146
up seq anno feature ids: VAR_037844
up seq anno feature ids: VAR_037845
up seq anno feature ids: VAR_037846
up seq anno feature ids: VAR_037847
up seq anno feature ids: VAR_037848
up seq anno feature ids: VAR_037849
up seq anno feature ids: VAR_037850
up seq anno feature ids: VAR_064715

9606:SP4
gene id: 9606:SP4
uniprot id: A0A3B3IRW4
uniprot id: Q02446
uniprot id: Q32M51
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: 9aaTAD; inactive
up seq anno comments: C2H2-type
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: Disordered
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Transcription factor Sp4
up seq anno feature ids: PRO_0000047144
up seq anno feature ids: VAR_047975

9606:IL17REL
gene id: 9606:IL17REL
uniprot id: Q6ZVW7
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Putative interleukin-17 receptor E-like
up seq anno feature ids: PRO_0000325958
up seq anno feature ids: VAR_039957
up seq anno feature ids: VAR_061187

9606:IMP3
gene id: 9606:IMP3
uniprot id: Q9NV31
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Sequence Conflict
up seq anno labels: Strand
up seq anno comments: S4 RNA-binding
up seq anno comments: U3 small nucleolar ribonucleoprotein protein IMP3
up seq anno feature ids: PRO_0000132709

9606:HNMT
gene id: 9606:HNMT
uniprot id: P50135
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Histamine N-methyltransferase
up seq anno comments: In MRT51; loss of protein solubility; increased aggregation in the cytoplasm.
up seq anno comments: In MRT51; no effect on protein abundance; no effect on protein localization to the cytoplasm; decreased thermal stability; decreased ligand affinity for S-adenosyl-L-methionine; loss of histamine N-methyltransferase activity.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno feature ids: PRO_0000084021
up seq anno feature ids: VAR_010252
up seq anno feature ids: VAR_076312
up seq anno feature ids: VAR_076313
up seq anno feature ids: VSP_042027
up seq anno feature ids: VSP_043482
up seq anno feature ids: VSP_043483

9606:KPNA4
gene id: 9606:KPNA4
uniprot id: O00629
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: ARM 10; atypical
up seq anno comments: ARM 1; truncated
up seq anno comments: ARM 2
up seq anno comments: ARM 3
up seq anno comments: ARM 4
up seq anno comments: ARM 5
up seq anno comments: ARM 6
up seq anno comments: ARM 7
up seq anno comments: ARM 8
up seq anno comments: ARM 9
up seq anno comments: IBB
up seq anno comments: Importin subunit alpha-3
up seq anno comments: N-acetylalanine
up seq anno comments: NLS binding site (major)
up seq anno comments: NLS binding site (minor)
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000120726

9606:FASTK
gene id: 9606:FASTK
uniprot id: A0A090N8I0
uniprot id: A0A090N8Z7
uniprot id: Q14296
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Abolishes isoform 4 expression.
up seq anno comments: Disordered
up seq anno comments: Fas-activated serine/threonine kinase
up seq anno comments: In a lung adenocarcinoma sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: RAP
up seq anno feature ids: PRO_0000087196
up seq anno feature ids: VAR_021970
up seq anno feature ids: VAR_042200
up seq anno feature ids: VSP_042746
up seq anno feature ids: VSP_042747
up seq anno feature ids: VSP_044811
up seq anno feature ids: VSP_058246

9606:POTEC
gene id: 9606:POTEC
uniprot id: B2RU33
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: ANK 1
up seq anno comments: ANK 2
up seq anno comments: ANK 3
up seq anno comments: ANK 4
up seq anno comments: ANK 5
up seq anno comments: ANK 6
up seq anno comments: ANK 7
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: POTE ankyrin domain family member C
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000345419
up seq anno feature ids: VAR_045825
up seq anno feature ids: VAR_045826
up seq anno feature ids: VAR_045827
up seq anno feature ids: VAR_045828
up seq anno feature ids: VAR_045829
up seq anno feature ids: VAR_045830
up seq anno feature ids: VAR_045831
up seq anno feature ids: VAR_045832
up seq anno feature ids: VAR_045833
up seq anno feature ids: VAR_045834
up seq anno feature ids: VAR_045835

9606:ZCCHC2
gene id: 9606:ZCCHC2
uniprot id: Q9BRD4
uniprot id: Q9C0B9
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: CCHC-type
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Zinc finger CCHC domain-containing protein 2
up seq anno feature ids: PRO_0000150949
up seq anno feature ids: VAR_060121
up seq anno feature ids: VSP_055995

9606:SCGB2A2
gene id: 9606:SCGB2A2
uniprot id: Q13296
uniprot id: Q6NX70
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: Mammaglobin-A
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000036372
up seq anno feature ids: PRO_5014310553
up seq anno feature ids: VSP_009122

9606:ADGRG1
gene id: 9606:ADGRG1
uniprot id: A0A024R6U7
uniprot id: A0A0S2Z517
uniprot id: B3KQN7
uniprot id: B3KQV4
uniprot id: B4DM06
uniprot id: Q9Y653
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: ADGRG1 C-terminal fragment
up seq anno comments: ADGRG1 N-terminal fragment
up seq anno comments: Abolishes cleavage but does not affect cell membrane localization or signaling activity.
up seq anno comments: Abolishes cleavage.
up seq anno comments: Abolishes heparin-binding; when associated with A-28 and A-33.
up seq anno comments: Abolishes heparin-binding; when associated with A-29 and A-33.
up seq anno comments: Adhesion G-protein coupled receptor G1
up seq anno comments: Cleavage; by autolysis
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 2 profile 2
up seq anno comments: GPS
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: In BFPP; abolishes autoproteolytic cleavage; reduces cell surface localization.
up seq anno comments: In BFPP; abolishes interaction with COL3A1.
up seq anno comments: In BFPP; abolishes interaction with COL3A1; reduces cell surface localization.
up seq anno comments: In BFPP; reduces cell surface localization.
up seq anno comments: In BFPP; unclear effects on cell surface localization; blocks downstream RhoA activation.
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Reduces heparin-binding. Abolishes heparin-binding; when associated with A-28 and A-29.
up seq anno feature ids: PRO_0000012880
up seq anno feature ids: PRO_0000423086

9606:PAAF1
gene id: 9606:PAAF1
uniprot id: Q9BRP4
up seq anno parent labels: Chain
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-acetylalanine
up seq anno comments: Proteasomal ATPase-associated factor 1
up seq anno comments: Removed
up seq anno comments: WD 1
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno comments: WD 7
up seq anno feature ids: PRO_0000235685
up seq anno feature ids: VAR_026415
up seq anno feature ids: VAR_026416
up seq anno feature ids: VAR_032082
up seq anno feature ids: VSP_018477
up seq anno feature ids: VSP_044699

9606:ZGLP1
gene id: 9606:ZGLP1
uniprot id: P0C6A0
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Zinc Finger
up seq anno comments: Disordered
up seq anno comments: GATA-type
up seq anno comments: GATA-type zinc finger protein 1
up seq anno feature ids: PRO_0000317557

9606:FBXL7
gene id: 9606:FBXL7
uniprot id: Q9UJT9
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: F-box
up seq anno comments: F-box/LRR-repeat protein 7
up seq anno comments: In isoform 2.
up seq anno comments: LRR 1
up seq anno comments: LRR 10
up seq anno comments: LRR 11
up seq anno comments: LRR 2
up seq anno comments: LRR 3
up seq anno comments: LRR 4
up seq anno comments: LRR 5
up seq anno comments: LRR 6
up seq anno comments: LRR 7
up seq anno comments: LRR 8
up seq anno comments: LRR 9
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000119849
up seq anno feature ids: VSP_054751

9606:CEACAM4
gene id: 9606:CEACAM4
uniprot id: O75871
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Carcinoembryonic antigen-related cell adhesion molecule 4
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: ITAM
up seq anno comments: Ig-like V-type
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No internalization of bacteria; when associated with F-222.
up seq anno comments: No internalization of bacteria; when associated with F-233.
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000316847
up seq anno feature ids: VAR_038404
up seq anno feature ids: VAR_038405

9606:TMEM88B
gene id: 9606:TMEM88B
uniprot id: A6NKF7
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: Transmembrane protein 88B
up seq anno feature ids: PRO_0000346446

9606:BBS5
gene id: 9606:BBS5
uniprot id: A0A0S2Z626
uniprot id: Q8N3I7
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Bardet-Biedl syndrome 5 protein
up seq anno comments: Found as heterozygous variant in patients with Bardet-Biedl syndrome; might have a modifying effect on disease phenotype.
up seq anno comments: Found in patients with Bardet-Biedl syndrome carrying homozygous mutations in other BBS genes; might have a modifying effect on disease phenotype.
up seq anno comments: In BBS5.
up seq anno comments: In BBS5; found in patient of Sri Lankan origin; not detected in patients of Northern European origin.
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000223254
up seq anno feature ids: VAR_025316
up seq anno feature ids: VAR_025317
up seq anno feature ids: VAR_066290
up seq anno feature ids: VAR_066291
up seq anno feature ids: VAR_072380
up seq anno feature ids: VSP_017240

9606:PRR11
gene id: 9606:PRR11
uniprot id: D2SNZ4
uniprot id: Q96HE9
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno comments: D-box
up seq anno comments: Disordered
up seq anno comments: KEN box
up seq anno comments: Phosphodegron
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Proline-rich protein 11
up seq anno feature ids: PRO_0000243943

9606:PRAMEF20
gene id: 9606:PRAMEF20
uniprot id: Q5VT98
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno labels: Chain
up seq anno labels: Repeat
up seq anno comments: LRR 1; degenerate
up seq anno comments: LRR 2; degenerate
up seq anno comments: LRR 3; degenerate
up seq anno comments: LRR 4; degenerate
up seq anno comments: LRR 5
up seq anno comments: LRR 6
up seq anno comments: LRR 7
up seq anno comments: LRR 8
up seq anno comments: LRR 9
up seq anno comments: PRAME family member 20
up seq anno feature ids: PRO_0000290164

9606:TEX29
gene id: 9606:TEX29
uniprot id: Q8N6K0
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Testis-expressed protein 29
up seq anno feature ids: PRO_0000263699

9606:MIF4GD
gene id: 9606:MIF4GD
uniprot id: A0A0S2Z5K9
uniprot id: A0A0S2Z5S7
uniprot id: A0A0S2Z5T5
uniprot id: A9UHW6
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Non-terminal Residue
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: MIF4G
up seq anno comments: MIF4G domain-containing protein
up seq anno feature ids: PRO_0000337089
up seq anno feature ids: VSP_033877
up seq anno feature ids: VSP_047408

9606:GOLGB1
gene id: 9606:GOLGB1
uniprot id: Q14789
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Golgin subfamily B member 1
up seq anno comments: Helical
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: In isoform 4.
up seq anno comments: Lumenal
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000190071
up seq anno feature ids: VAR_020155
up seq anno feature ids: VAR_020156
up seq anno feature ids: VAR_031671
up seq anno feature ids: VAR_031672
up seq anno feature ids: VAR_031673
up seq anno feature ids: VAR_036096
up seq anno feature ids: VAR_036097
up seq anno feature ids: VSP_045567
up seq anno feature ids: VSP_045568
up seq anno feature ids: VSP_057417
up seq anno feature ids: VSP_057418

9606:SLC2A12
gene id: 9606:SLC2A12
uniprot id: Q8TD20
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: Solute carrier family 2, facilitated glucose transporter member 12
up seq anno feature ids: PRO_0000292014

9606:CSAD
gene id: 9606:CSAD
uniprot id: Q86V02
uniprot id: Q96JQ3
uniprot id: Q9Y600
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Cysteine sulfinic acid decarboxylase
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N6-(pyridoxal phosphate)lysine
up seq anno feature ids: PRO_0000147006
up seq anno feature ids: VSP_001307
up seq anno feature ids: VSP_039002

9606:NPY4R
gene id: 9606:NPY4R
uniprot id: P50391
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Lipid Binding
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Neuropeptide Y receptor type 4
up seq anno comments: S-palmitoyl cysteine
up seq anno feature ids: PRO_0000069935
up seq anno feature ids: VAR_030337
up seq anno feature ids: VAR_030338

9606:LSM1
gene id: 9606:LSM1
uniprot id: A0A0S2Z590
uniprot id: O15116
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Sm
up seq anno comments: U6 snRNA-associated Sm-like protein LSm1
up seq anno feature ids: PRO_0000125554

9606:POP4
gene id: 9606:POP4
uniprot id: O95707
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Sequence Conflict
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno comments: Phosphoserine
up seq anno comments: Ribonuclease P protein subunit p29
up seq anno feature ids: PRO_0000128418

9606:MRC1
gene id: 9606:MRC1
uniprot id: P22897
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: C-type lectin 1
up seq anno comments: C-type lectin 2
up seq anno comments: C-type lectin 3
up seq anno comments: C-type lectin 4
up seq anno comments: C-type lectin 5
up seq anno comments: C-type lectin 6
up seq anno comments: C-type lectin 7
up seq anno comments: C-type lectin 8
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Fibronectin type-II
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Macrophage mannose receptor 1
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Probably protective against leprosy when associated with A-399 and F-407.
up seq anno comments: Ricin B-type lectin
up seq anno feature ids: PRO_0000017548
up seq anno feature ids: VAR_019700
up seq anno feature ids: VAR_065250
up seq anno feature ids: VAR_065251
up seq anno feature ids: VAR_065252
up seq anno feature ids: VSP_041340
up seq anno feature ids: VSP_041341

9606:TRAPPC8
gene id: 9606:TRAPPC8
uniprot id: Q9Y2L5
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Trafficking protein particle complex subunit 8
up seq anno feature ids: PRO_0000065641
up seq anno feature ids: VAR_036270
up seq anno feature ids: VAR_057814
up seq anno feature ids: VAR_057815
up seq anno feature ids: VAR_057816
up seq anno feature ids: VAR_060250
up seq anno feature ids: VAR_060251
up seq anno feature ids: VAR_060252
up seq anno feature ids: VAR_060253
up seq anno feature ids: VAR_060254
up seq anno feature ids: VSP_004000
up seq anno feature ids: VSP_014454

9606:EBF2
gene id: 9606:EBF2
uniprot id: B2RNT0
uniprot id: B7Z934
uniprot id: Q9HAK2
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: C5-type
up seq anno comments: Disordered
up seq anno comments: IPT/TIG
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with DNA
up seq anno comments: Transcription factor COE DNA-binding
up seq anno comments: Transcription factor COE2
up seq anno feature ids: PRO_0000107828
up seq anno feature ids: VAR_048754
up seq anno feature ids: VSP_055530
up seq anno feature ids: VSP_055531

9606:TRPC4
gene id: 9606:TRPC4
uniprot id: Q9UBN4
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: ANK 1
up seq anno comments: ANK 2
up seq anno comments: ANK 3
up seq anno comments: ANK 4
up seq anno comments: Basic and acidic residues
up seq anno comments: Binds to ITPR1, ITPR2 and ITPR3
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform Beta and isoform Gamma.
up seq anno comments: In isoform Delta.
up seq anno comments: In isoform Epsilon.
up seq anno comments: In isoform Eta.
up seq anno comments: In isoform Gamma.
up seq anno comments: In isoform Zeta.
up seq anno comments: Loss of interaction with NHERF1.
up seq anno comments: Multimerization domain
up seq anno comments: PDZ-binding domain
up seq anno comments: Phosphotyrosine; by FYN
up seq anno comments: Reduced EGF-induced phosphorylation and decreased association with NHERF1. Loss of EGF-induced phosphorylation and decreased association with NHERF1; when associated with F-959.
up seq anno comments: Reduced EGF-induced phosphorylation and decreased association with NHERF1. Loss of EGF-induced phosphorylation and decreased association with NHERF1; when associated with F-972.
up seq anno comments: Short transient receptor potential channel 4
up seq anno feature ids: PRO_0000215314
up seq anno feature ids: VAR_036452
up seq anno feature ids: VSP_006567
up seq anno feature ids: VSP_006568
up seq anno feature ids: VSP_006569
up seq anno feature ids: VSP_041262
up seq anno feature ids: VSP_041439
up seq anno feature ids: VSP_047747
up seq anno feature ids: VSP_047748

9606:AMZ2
gene id: 9606:AMZ2
uniprot id: Q86W34
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Archaemetzincin-2
up seq anno comments: In isoform 2.
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000159617
up seq anno feature ids: VAR_024850
up seq anno feature ids: VAR_047343
up seq anno feature ids: VSP_047263

9606:CCN5
gene id: 9606:CCN5
uniprot id: O76076
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: CCN family member 5
up seq anno comments: IGFBP N-terminal
up seq anno comments: In isoform 2.
up seq anno comments: TSP type-1
up seq anno comments: VWFC
up seq anno feature ids: PRO_0000014409
up seq anno feature ids: VAR_049566
up seq anno feature ids: VSP_056298
up seq anno feature ids: VSP_056299

9606:SPATA6
gene id: 9606:SPATA6
uniprot id: A0A140VJV1
uniprot id: A8MU33
uniprot id: B4DX17
uniprot id: Q9NWH7
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Spermatogenesis-associated protein 6
up seq anno comments: Spermatogenesis-associated protein 6 N-terminal
up seq anno feature ids: PRO_0000278441
up seq anno feature ids: VAR_030774
up seq anno feature ids: VAR_030775
up seq anno feature ids: VAR_062174
up seq anno feature ids: VAR_062175
up seq anno feature ids: VSP_023277

9606:INTS1
gene id: 9606:INTS1
uniprot id: Q8N201
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In NDCAGF.
up seq anno comments: In NDCAGF; decreased protein abundance.
up seq anno comments: In NDCAGF; unknown pathological significance.
up seq anno comments: Integrator complex subunit 1
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000236044
up seq anno feature ids: VAR_049627
up seq anno feature ids: VAR_083352
up seq anno feature ids: VAR_083353
up seq anno feature ids: VAR_083354
up seq anno feature ids: VAR_083355
up seq anno feature ids: VAR_083356
up seq anno feature ids: VAR_083357

9606:SHB
gene id: 9606:SHB
uniprot id: Q15464
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: Loss of interaction with CD3Z. Alters LAT, PLCG1, VAV1 and LCP2 phosphorylation, MAP kinase signaling, Rac1 and JNK activation, intracellular calcium increase, activation of the nuclear factor for activation of T-cells and subsequent interleukin-2 expression which normally occur upon T-cells stimulation.
up seq anno comments: Mediates interaction with LAT, PTK2/FAK1, JAK1 and JAK3
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: SH2
up seq anno comments: SH2 domain-containing adapter protein B
up seq anno feature ids: PRO_0000246324
up seq anno feature ids: VSP_019846
up seq anno feature ids: VSP_019847

9606:LRP1
gene id: 9606:LRP1
uniprot id: Q07954
uniprot id: Q59FG2
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: EGF-like
up seq anno comments: EGF-like 1
up seq anno comments: EGF-like 10
up seq anno comments: EGF-like 11
up seq anno comments: EGF-like 12; calcium-binding
up seq anno comments: EGF-like 13
up seq anno comments: EGF-like 14
up seq anno comments: EGF-like 15
up seq anno comments: EGF-like 16
up seq anno comments: EGF-like 17
up seq anno comments: EGF-like 18
up seq anno comments: EGF-like 19
up seq anno comments: EGF-like 20
up seq anno comments: EGF-like 21
up seq anno comments: EGF-like 22
up seq anno comments: EGF-like 2; calcium-binding
up seq anno comments: EGF-like 3
up seq anno comments: EGF-like 4
up seq anno comments: EGF-like 5
up seq anno comments: EGF-like 6
up seq anno comments: EGF-like 7
up seq anno comments: EGF-like 8
up seq anno comments: EGF-like 9
up seq anno comments: Extracellular
up seq anno comments: Found in a patient with severe intellectual disability, seizures, stereotypic behavior, high pain threshold and sleep disturbances.
up seq anno comments: Helical
up seq anno comments: In KPA; reduced alpha-2 macroglobulin receptor activity; reduced protein abundance.
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with MAFB

9606:PRAMEF8
gene id: 9606:PRAMEF8
uniprot id: Q5VWM4
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno labels: Chain
up seq anno labels: Repeat
up seq anno comments: LRR 1; degenerate
up seq anno comments: LRR 2; degenerate
up seq anno comments: LRR 3; degenerate
up seq anno comments: LRR 4; degenerate
up seq anno comments: LRR 5
up seq anno comments: LRR 6
up seq anno comments: LRR 7
up seq anno comments: LRR 8
up seq anno comments: LRR 9
up seq anno comments: PRAME family member 8
up seq anno feature ids: PRO_0000156982

9606:IER5L
gene id: 9606:IER5L
uniprot id: Q5T953
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: Immediate early response gene 5-like protein
up seq anno comments: In isoform 2.
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000334656
up seq anno feature ids: VAR_043450
up seq anno feature ids: VSP_033726
up seq anno feature ids: VSP_033727

9606:LRRC37A
gene id: 9606:LRRC37A
uniprot id: A6NMS7
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: LRR 1
up seq anno comments: LRR 2
up seq anno comments: LRR 3
up seq anno comments: LRR 4
up seq anno comments: LRR 5
up seq anno comments: Leucine-rich repeat-containing protein 37A
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000337079

9606:SPATA31C1
gene id: 9606:SPATA31C1
uniprot id: P0DKV0
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Putative spermatogenesis-associated protein 31C1
up seq anno feature ids: PRO_0000420908
up seq anno feature ids: VSP_044951
up seq anno feature ids: VSP_044952

9606:RGS18
gene id: 9606:RGS18
uniprot id: Q9NS28
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Phosphoserine
up seq anno comments: RGS
up seq anno comments: Regulator of G-protein signaling 18
up seq anno feature ids: PRO_0000204227

9606:PRORP
gene id: 9606:PRORP
uniprot id: O15091
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: Abolishes ribonuclease activity.
up seq anno comments: Does not affect ribonuclease activity.
up seq anno comments: In COXPD54; decreased protein levels in homozygous patient cells; impaired mitochondrial RNA processing in homozygous patient cells.
up seq anno comments: In COXPD54; results in decreased mitochondrial tRNA 5'-end processing as shown by assays with mitochondrial ribonuclease P complex reconstituted in vitro.
up seq anno comments: In COXPD54; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Mitochondrial ribonuclease P catalytic subunit
up seq anno comments: Mitochondrion
up seq anno comments: PRORP
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000050749
up seq anno feature ids: VAR_054212
up seq anno feature ids: VAR_086903
up seq anno feature ids: VAR_086904
up seq anno feature ids: VAR_086905
up seq anno feature ids: VAR_086906
up seq anno feature ids: VAR_086907
up seq anno feature ids: VSP_036201
up seq anno feature ids: VSP_036202
up seq anno feature ids: VSP_036203

9606:AMN1
gene id: 9606:AMN1
uniprot id: Q8IY45
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: Protein AMN1 homolog
up seq anno feature ids: PRO_0000289273
up seq anno feature ids: VSP_054567

9606:HTR1D
gene id: 9606:HTR1D
uniprot id: P28221
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: 5-hydroxytryptamine receptor 1D
up seq anno comments: Cytoplasmic
up seq anno comments: DRY motif; important for ligand-induced conformation changes
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: NPxxY motif; important for ligand-induced conformation changes and signaling
up seq anno feature ids: PRO_0000068927
up seq anno feature ids: VAR_011834

9606:ZNF503
gene id: 9606:ZNF503
uniprot id: Q96F45
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N6-acetyllysine
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Zinc finger protein 503
up seq anno feature ids: PRO_0000292204
up seq anno feature ids: VAR_032951
up seq anno feature ids: VSP_026394
up seq anno feature ids: VSP_026395

9606:ZBTB18
gene id: 9606:ZBTB18
uniprot id: Q99592
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: BTB
up seq anno comments: Basic and acidic residues
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: Disordered
up seq anno comments: Found in a patient with Rett syndrome-like phenotype; unknown pathological significance.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with DNMT3A
up seq anno comments: Phosphoserine
up seq anno comments: Zinc finger and BTB domain-containing protein 18
up seq anno feature ids: PRO_0000047477
up seq anno feature ids: VAR_012768
up seq anno feature ids: VAR_079032
up seq anno feature ids: VSP_035381

9606:GPD1L
gene id: 9606:GPD1L
uniprot id: Q8N335
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Glycerol-3-phosphate dehydrogenase 1-like protein
up seq anno comments: In BRGDA2; unknown pathological significance; decreased enzymatic activity and significant reduction of sodium current when coexpressed with SCN5A in HEK cells.
up seq anno comments: In BRGDA2; unknown pathological significance; decreased enzymatic activity; affects SCN5A membrane expression; reduction of sodium current when coexpressed with SCN5A in HEK cells.
up seq anno comments: In BRGDA2; unknown pathological significance; significant reduction of sodium current when coexpressed with SCN5A in HEK cells.
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000286511
up seq anno feature ids: VAR_032114
up seq anno feature ids: VAR_044044
up seq anno feature ids: VAR_044045
up seq anno feature ids: VAR_044046
up seq anno feature ids: VAR_044047

9606:FAM83C
gene id: 9606:FAM83C
uniprot id: Q9BQN1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: Polar residues
up seq anno comments: Protein FAM83C
up seq anno feature ids: PRO_0000079459
up seq anno feature ids: VAR_021946
up seq anno feature ids: VAR_053900
up seq anno feature ids: VAR_053901
up seq anno feature ids: VAR_053902

9606:ZNF835
gene id: 9606:ZNF835
uniprot id: Q9Y2P0
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 12
up seq anno comments: C2H2-type 13
up seq anno comments: C2H2-type 14
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: Disordered
up seq anno comments: Polar residues
up seq anno comments: Zinc finger protein 835
up seq anno feature ids: PRO_0000319111
up seq anno feature ids: VAR_061977
up seq anno feature ids: VAR_061978

9606:PITX3
gene id: 9606:PITX3
uniprot id: O75364
up seq anno parent labels: Chain
up seq anno parent labels: DNA Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: DNA Binding
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: Homeobox
up seq anno comments: In CTRCT11.
up seq anno comments: Nuclear localization signal
up seq anno comments: OAR
up seq anno comments: Phosphoserine
up seq anno comments: Pituitary homeobox 3
up seq anno feature ids: PRO_0000049229
up seq anno feature ids: VAR_003767

9606:CITED1
gene id: 9606:CITED1
uniprot id: Q99966
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Cbp/p300-interacting transactivator 1
up seq anno comments: Disordered
up seq anno comments: Does not change subcellular localization; when associated with A-176.
up seq anno comments: Does not change subcellular localization; when associated with A-178.
up seq anno comments: Does not change subcellular localization; when associated with A-91.
up seq anno comments: Does not change subcellular localization; when associated with A-95.
up seq anno comments: Does not inhibit interaction with ESR1 and ER-coactivation activity.
up seq anno comments: Does not inhibit interaction with ESR1 and ER-coactivation activity. Localizes mainly in the nucleus; when associated with A-165.
up seq anno comments: Does not inhibit interaction with ESR1 and ER-coactivation activity. Localizes mainly in the nucleus; when associated with A-167.
up seq anno comments: In isoform 2.
up seq anno comments: Inhibits interaction with ESR1 and ER-coactivation activity.
up seq anno comments: Nuclear export signal
up seq anno comments: Polar residues
up seq anno comments: Strongly reduces phosphorylation but does not interfere with its NES-dependent nuclear export; when associated with A-16; A-63; A-67 and A-137.
up seq anno comments: Strongly reduces phosphorylation but does not interfere with its NES-dependent nuclear export; when associated with A-16; A-63; A-71 and A-137.
up seq anno comments: Strongly reduces phosphorylation but does not interfere with its NES-dependent nuclear export; when associated with A-16; A-67; A-71 and A-137.
up seq anno comments: Strongly reduces phosphorylation but does not interfere with its NES-dependent nuclear export; when associated with A-63; A-67; A-71 and A-137.
up seq anno comments: Strongly reduces phosphorylation; when associated with A-16; A-63; A-67 and A-71.
up seq anno feature ids: PRO_0000144724
up seq anno feature ids: VAR_053038
up seq anno feature ids: VSP_039897

9606:RIOK1
gene id: 9606:RIOK1
uniprot id: Q9BRS2
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 4-aspartylphosphate intermediate
up seq anno comments: Abolishes autophosphorylation activity; enhances association with pre-40S ribosomal subunits; inhibits processing of 18S-E pre-rRNA to the mature 18S rRNA.
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Disordered
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Serine/threonine-protein kinase RIO1
up seq anno feature ids: PRO_0000213526
up seq anno feature ids: VAR_061777

9606:ONECUT3
gene id: 9606:ONECUT3
uniprot id: O60422
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Region
up seq anno comments: CUT
up seq anno comments: Disordered
up seq anno comments: Homeobox
up seq anno comments: One cut domain family member 3
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000271218

9606:N4BP3
gene id: 9606:N4BP3
uniprot id: O15049
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: NEDD4-binding protein 3
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000096682

9606:SAMD1
gene id: 9606:SAMD1
uniprot id: Q6SPF0
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes interaction with L3MBTL3.
up seq anno comments: Acidic residues
up seq anno comments: Decreases binding to unmethylated CpG islands.
up seq anno comments: Disordered
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Pro residues
up seq anno comments: SAM
up seq anno comments: SAMD1-like winged helix (WH)
up seq anno comments: Slightly decreases binding to unmethylated CpG islands.
up seq anno comments: Sterile alpha motif domain-containing protein 1
up seq anno comments: Strongly decreases binding to unmethylated CpG islands. Abolishes interaction with KDM1A.
up seq anno feature ids: PRO_0000279494
up seq anno feature ids: VAR_061701

9606:CSPG4
gene id: 9606:CSPG4
uniprot id: Q6UVK1
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: CSPG 1
up seq anno comments: CSPG 10
up seq anno comments: CSPG 11
up seq anno comments: CSPG 12
up seq anno comments: CSPG 13
up seq anno comments: CSPG 14
up seq anno comments: CSPG 15
up seq anno comments: CSPG 2
up seq anno comments: CSPG 3
up seq anno comments: CSPG 4
up seq anno comments: CSPG 5
up seq anno comments: CSPG 6
up seq anno comments: CSPG 7
up seq anno comments: CSPG 8
up seq anno comments: CSPG 9
up seq anno comments: Chondroitin sulfate proteoglycan 4
up seq anno comments: Cysteine-containing
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Globular or compact configuration stabilized by disulfide bonds
up seq anno comments: Helical
up seq anno comments: Interaction with COL5A1
up seq anno comments: Interaction with COL6A2
up seq anno comments: Laminin G-like 1
up seq anno comments: Laminin G-like 2
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Neurite growth inhibition
up seq anno comments: O-linked (Xyl...) (chondroitin sulfate) serine
up seq anno comments: PDZ-binding
up seq anno comments: Phosphothreonine; by PKC/PRKCA
up seq anno feature ids: PRO_0000041962
up seq anno feature ids: VAR_061733

9606:UBE2L3
gene id: 9606:UBE2L3
uniprot id: P68036
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Decrease in autoubiquitination.
up seq anno comments: Does not convert into a lysine reactive E2; when associated with D-119.
up seq anno comments: Does not convert into a lysine reactive E2; when associated with D-88.
up seq anno comments: Glycyl thioester intermediate
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of catalytic activity. Prevents ubiquitin-dependent proteasomal degradation of UBE2L3.
up seq anno comments: Marked decrease in autoubiquitination.
up seq anno comments: N6-acetyllysine
up seq anno comments: UBC core
up seq anno comments: Ubiquitin-conjugating enzyme E2 L3
up seq anno feature ids: PRO_0000082476
up seq anno feature ids: VSP_045152
up seq anno feature ids: VSP_047342

9606:ARGFX
gene id: 9606:ARGFX
uniprot id: A6NJG6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Arginine-fifty homeobox
up seq anno comments: Disordered
up seq anno comments: Homeobox
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000311325
up seq anno feature ids: VAR_037226

9606:NELFB
gene id: 9606:NELFB
uniprot id: Q8WX92
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: N6-acetyllysine
up seq anno comments: Negative elongation factor B
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000219129
up seq anno feature ids: VSP_059998

9606:MYO3B
gene id: 9606:MYO3B
uniprot id: B7ZM71
uniprot id: Q8WXR4
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Actin-binding
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: IQ 1
up seq anno comments: IQ 2
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: In isoform 7.
up seq anno comments: Myosin motor
up seq anno comments: Myosin-IIIb
up seq anno comments: Polar residues
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000086415
up seq anno feature ids: VAR_030605
up seq anno feature ids: VAR_030606
up seq anno feature ids: VAR_030607
up seq anno feature ids: VAR_030608
up seq anno feature ids: VAR_030609
up seq anno feature ids: VAR_030610
up seq anno feature ids: VAR_040886
up seq anno feature ids: VAR_040887
up seq anno feature ids: VAR_040888
up seq anno feature ids: VAR_040889
up seq anno feature ids: VAR_040890
up seq anno feature ids: VAR_040891
up seq anno feature ids: VAR_040892
up seq anno feature ids: VAR_040893
up seq anno feature ids: VAR_040894
up seq anno feature ids: VAR_040895
up seq anno feature ids: VAR_040896
up seq anno feature ids: VAR_040897
up seq anno feature ids: VAR_040898
up seq anno feature ids: VAR_040899
up seq anno feature ids: VSP_010162
up seq anno feature ids: VSP_010163
up seq anno feature ids: VSP_010164
up seq anno feature ids: VSP_010165
up seq anno feature ids: VSP_023111

9606:UHRF2
gene id: 9606:UHRF2
uniprot id: Q96PU4
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Disordered
up seq anno comments: E3 ubiquitin-protein ligase UHRF2
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with PCNP
up seq anno comments: Interchain
up seq anno comments: Methyl-CpG binding and interaction with HDAC1
up seq anno comments: No effect on autosumoylation, nor on ZNF131 sumoylation.
up seq anno comments: No effect on autosumoylation.
up seq anno comments: PHD-type
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: RING-type
up seq anno comments: Required for interaction with histone H3
up seq anno comments: Ubiquitin-like
up seq anno comments: YDG
up seq anno feature ids: PRO_0000056147
up seq anno feature ids: VAR_035961
up seq anno feature ids: VSP_013874
up seq anno feature ids: VSP_013875

9606:NECTIN3
gene id: 9606:NECTIN3
uniprot id: Q9NQS3
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Ig-like C2-type 1
up seq anno comments: Ig-like C2-type 2
up seq anno comments: Ig-like V-type
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Nectin-3
up seq anno feature ids: PRO_0000226372
up seq anno feature ids: VAR_049995
up seq anno feature ids: VSP_017435
up seq anno feature ids: VSP_017436
up seq anno feature ids: VSP_046893
up seq anno feature ids: VSP_046894

9606:TRIM23
gene id: 9606:TRIM23
uniprot id: P36406
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: ARF-like
up seq anno comments: B box-type; degenerate
up seq anno comments: E3 ubiquitin-protein ligase TRIM23
up seq anno comments: In isoform Beta.
up seq anno comments: In isoform Gamma.
up seq anno comments: Loss of E3 ubiquitin-protein ligase activity.
up seq anno comments: Maintains GTPase activity. Increases interaction with PSCD1.
up seq anno comments: RING-type; degenerate
up seq anno comments: Suppresses GTPase activity. Decreases interaction with PSCD1.
up seq anno feature ids: PRO_0000207483
up seq anno feature ids: VAR_048320
up seq anno feature ids: VSP_000296
up seq anno feature ids: VSP_000297

9606:SERPINA6
gene id: 9606:SERPINA6
uniprot id: A0A2Z4LCH4
uniprot id: P08185
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Conserved cysteine within steroid binding domain
up seq anno comments: Corticosteroid-binding globulin
up seq anno comments: In CBG deficiency; Leuven; decreased cortisol-binding affinity.
up seq anno comments: In CBG deficiency; Lyon; decreased cortisol-binding affinity.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Serpin
up seq anno feature ids: PRO_0000032429
up seq anno feature ids: PRO_5016343569
up seq anno feature ids: VAR_007111
up seq anno feature ids: VAR_016223
up seq anno feature ids: VAR_024350

9606:SEMA6B
gene id: 9606:SEMA6B
uniprot id: Q9H3T3
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Pro residues
up seq anno comments: Sema
up seq anno comments: Semaphorin-6B
up seq anno feature ids: PRO_0000032341
up seq anno feature ids: VSP_047625
up seq anno feature ids: VSP_047626

9606:RRM2
gene id: 9606:RRM2
uniprot id: P31350
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes the interaction with CCNF. Lack of proteasomal degradation. Increase in the cellular concentration of dATP and dGTP, but not dCTP and dTTP, leading to an imbalance in dNTP pools and genome instability.
up seq anno comments: Cy
up seq anno comments: Enhances inhibitory effect on Wnt signaling.
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Prevents inhibitory effect on Wnt signaling.
up seq anno comments: Ribonucleoside-diphosphate reductase subunit M2
up seq anno comments: Strongly reduces the interaction with CCNF. Lack of proteasomal degradation. Increase in the cellular concentration of dATP and dGTP, but not dCTP and dTTP, leading to an imbalance in dNTP pools and genome instability.
up seq anno feature ids: PRO_0000190447
up seq anno feature ids: VSP_044917

9606:BAMBI
gene id: 9606:BAMBI
uniprot id: Q13145
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: BMP and activin membrane-bound inhibitor homolog
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000020779

9606:MAGEA8
gene id: 9606:MAGEA8
uniprot id: B2R9W4
uniprot id: P43361
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: MAGE
up seq anno comments: Melanoma-associated antigen 8
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000156707
up seq anno feature ids: VAR_053494
up seq anno feature ids: VAR_053495

9606:ADAMTSL3
gene id: 9606:ADAMTSL3
uniprot id: P82987
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: ADAMTS-like protein 3
up seq anno comments: Disordered
up seq anno comments: Ig-like C2-type 1
up seq anno comments: Ig-like C2-type 2
up seq anno comments: Ig-like C2-type 3
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: PLAC
up seq anno comments: Polar residues
up seq anno comments: TSP type-1 1
up seq anno comments: TSP type-1 10
up seq anno comments: TSP type-1 2
up seq anno comments: TSP type-1 3
up seq anno comments: TSP type-1 4
up seq anno comments: TSP type-1 5
up seq anno comments: TSP type-1 6
up seq anno comments: TSP type-1 7
up seq anno comments: TSP type-1 8
up seq anno comments: TSP type-1 9
up seq anno feature ids: PRO_0000249684
up seq anno feature ids: VAR_027478
up seq anno feature ids: VAR_027479
up seq anno feature ids: VAR_027480
up seq anno feature ids: VAR_027481
up seq anno feature ids: VAR_027482
up seq anno feature ids: VAR_027483
up seq anno feature ids: VAR_027484
up seq anno feature ids: VAR_027485
up seq anno feature ids: VAR_027486
up seq anno feature ids: VAR_035809
up seq anno feature ids: VAR_035810
up seq anno feature ids: VAR_035811
up seq anno feature ids: VAR_035812
up seq anno feature ids: VAR_057365
up seq anno feature ids: VSP_037810

9606:WDR7
gene id: 9606:WDR7
uniprot id: Q9Y4E6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: WD 1
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno comments: WD 7
up seq anno comments: WD 8
up seq anno comments: WD 9
up seq anno comments: WD repeat-containing protein 7
up seq anno feature ids: PRO_0000051353
up seq anno feature ids: VSP_015274

9606:C19orf67
gene id: 9606:C19orf67
uniprot id: A6NJJ6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno comments: Disordered
up seq anno comments: Pro residues
up seq anno comments: UPF0575 protein C19orf67
up seq anno feature ids: PRO_0000332937

9606:SNRNP70
gene id: 9606:SNRNP70
uniprot id: P08621
uniprot id: Q9UFS1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: N-acetylthreonine
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: RRM
up seq anno comments: Removed
up seq anno comments: Required for interaction with U1 RNA
up seq anno comments: U1 small nuclear ribonucleoprotein 70 kDa
up seq anno feature ids: PRO_0000081880
up seq anno feature ids: VSP_005847
up seq anno feature ids: VSP_005848
up seq anno feature ids: VSP_005849
up seq anno feature ids: VSP_005850

9606:MFSD4A
gene id: 9606:MFSD4A
uniprot id: Q8N468
uniprot id: Q96KX6
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Major facilitator superfamily domain-containing protein 4A
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000273395
up seq anno feature ids: VAR_030142
up seq anno feature ids: VAR_030143
up seq anno feature ids: VSP_057053

9606:ANKRD35
gene id: 9606:ANKRD35
uniprot id: B4DFX6
uniprot id: F6XZD3
uniprot id: Q8N283
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: ANK
up seq anno comments: ANK 1
up seq anno comments: ANK 2
up seq anno comments: ANK 3
up seq anno comments: ANK 4
up seq anno comments: ANK 5
up seq anno comments: ANK 6
up seq anno comments: Ankyrin repeat domain-containing protein 35
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000243910
up seq anno feature ids: VAR_026870
up seq anno feature ids: VAR_033506
up seq anno feature ids: VAR_048278
up seq anno feature ids: VAR_061017
up seq anno feature ids: VAR_087983
up seq anno feature ids: VSP_056916
up seq anno feature ids: VSP_056917

9606:SNX3
gene id: 9606:SNX3
uniprot id: O60493
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Abolishes binding to phosphatidylinositol 3-phosphate.
up seq anno comments: Abolishes interaction with retromer cargo-selective subcomplex VPS26A:VPS29:VPS35; when associated with A-28 and A-30.
up seq anno comments: Abolishes interaction with retromer cargo-selective subcomplex VPS26A:VPS29:VPS35; when associated with A-28 and A-32.
up seq anno comments: Abolishes interaction with retromer cargo-selective subcomplex VPS26A:VPS29:VPS35; when associated with A-30 and A-32.
up seq anno comments: Binds predominantly to PtdIns(P5) and weaker to PtdIns(P3) abd PtdIns(P4); involved in neurite outgrowth regulation
up seq anno comments: Decreases VPS35 binding.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Increases VPS35 binding.
up seq anno comments: Loss of VPS35 binding.
up seq anno comments: N-acetylalanine
up seq anno comments: Omega-N-methylarginine
up seq anno comments: PX
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno comments: Sorting nexin-3
up seq anno feature ids: PRO_0000213840
up seq anno feature ids: VSP_006190
up seq anno feature ids: VSP_012928
up seq anno feature ids: VSP_014694

9606:PRDM11
gene id: 9606:PRDM11
uniprot id: A0A087WWZ6
uniprot id: Q9NQV5
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In a patient with diffuse large B-cell lymphoma; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: PR domain-containing protein 11
up seq anno comments: Phosphoserine
up seq anno comments: SET
up seq anno feature ids: PRO_0000047768
up seq anno feature ids: VAR_073689
up seq anno feature ids: VAR_073690
up seq anno feature ids: VSP_039836

9606:VPS13B
gene id: 9606:VPS13B
uniprot id: Q7Z7G8
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Chorein N-terminal
up seq anno comments: Disordered
up seq anno comments: Found in a patient with intellectual disability and facial dysmorphisms.
up seq anno comments: In COH1.
up seq anno comments: In COH1; accelerates differentiation of adipose cells; response to insulin is abnormal..
up seq anno comments: In COH1; disrupts protein localization to the perinuclear region; Golgi stacks are fragmented, early endosomes are abnormal, lysosomes are enlarged and glycosylation is defective; leads to an accumulation of liquid droplets and accelerates differentiation of adipose cells; response to insulin is abnormal..
up seq anno comments: In COH1; early endosomes are abnormal, lysosomes are enlarged and glycosylation is defective.
up seq anno comments: In COH1; glycosylation is defective; accelerates differentiation of adipose cells.
up seq anno comments: In COH1; leads to an accumulation of liquid droplets and accelerates differentiation of adipose cells; response to insulin is abnormal..
up seq anno comments: In COH1; unknown pathological significance.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: Intermembrane lipid transfer protein VPS13B
up seq anno comments: Localizes the protein to the Golgi apparatus
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: SHR-BD
up seq anno feature ids: PRO_0000065880
up seq anno feature ids: VAR_017759
up seq anno feature ids: VAR_036325
up seq anno feature ids: VAR_038422
up seq anno feature ids: VAR_038423
up seq anno feature ids: VAR_038424
up seq anno feature ids: VAR_057750
up seq anno feature ids: VAR_057751
up seq anno feature ids: VAR_057752
up seq anno feature ids: VAR_058749
up seq anno feature ids: VAR_058750
up seq anno feature ids: VAR_058751
up seq anno feature ids: VAR_058752
up seq anno feature ids: VAR_058753
up seq anno feature ids: VAR_058754
up seq anno feature ids: VAR_058755
up seq anno feature ids: VAR_058756
up seq anno feature ids: VAR_058757
up seq anno feature ids: VAR_069429
up seq anno feature ids: VAR_082932
up seq anno feature ids: VAR_086594
up seq anno feature ids: VAR_086595
up seq anno feature ids: VAR_086596
up seq anno feature ids: VAR_086597
up seq anno feature ids: VAR_086598
up seq anno feature ids: VAR_086599
up seq anno feature ids: VAR_086600
up seq anno feature ids: VAR_086601
up seq anno feature ids: VAR_086602
up seq anno feature ids: VAR_086603
up seq anno feature ids: VAR_086604
up seq anno feature ids: VAR_086605
up seq anno feature ids: VAR_086606
up seq anno feature ids: VAR_086607
up seq anno feature ids: VAR_086608
up seq anno feature ids: VAR_086609

9606:RAPGEF6
gene id: 9606:RAPGEF6
uniprot id: B2RTU6
uniprot id: Q8TEU7
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Cyclic nucleotide-binding
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3 and isoform 5.
up seq anno comments: In isoform 3, isoform 4 and isoform 5.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 6.
up seq anno comments: N-acetylmethionine
up seq anno comments: N-terminal Ras-GEF
up seq anno comments: PDZ
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Rap guanine nucleotide exchange factor 6
up seq anno comments: Ras-GEF
up seq anno comments: Ras-associating
up seq anno feature ids: PRO_0000068876
up seq anno feature ids: VAR_057168
up seq anno feature ids: VAR_057169
up seq anno feature ids: VAR_057170
up seq anno feature ids: VAR_057171
up seq anno feature ids: VAR_059793
up seq anno feature ids: VSP_045027
up seq anno feature ids: VSP_050607
up seq anno feature ids: VSP_050608
up seq anno feature ids: VSP_050609
up seq anno feature ids: VSP_050610
up seq anno feature ids: VSP_050611

9606:CDH19
gene id: 9606:CDH19
uniprot id: Q9H159
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Propeptide
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cadherin 1
up seq anno comments: Cadherin 2
up seq anno comments: Cadherin 3
up seq anno comments: Cadherin 4
up seq anno comments: Cadherin 5
up seq anno comments: Cadherin-19
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000003817
up seq anno feature ids: PRO_0000003818
up seq anno feature ids: VSP_047020
up seq anno feature ids: VSP_047021

9606:TBX5
gene id: 9606:TBX5
uniprot id: Q99593
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Abolishes acetylation of the protein, leading to impaired transcription factor activity. Impaired subcellular location.
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Does not affect acetylation of the protein.
up seq anno comments: Does not affect transcription factor activity.
up seq anno comments: In HOS.
up seq anno comments: In HOS; extensive upper limb malformations; affects transcriptional regulation of MYH6.
up seq anno comments: In HOS; extensive upper limb malformations; strongly reduced affinity for DNA.
up seq anno comments: In HOS; significant cardiac malformations but only minor skeletal abnormalities; reduced protein stability and strongly reduced affinity for DNA.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N6-acetyllysine
up seq anno comments: Polar residues
up seq anno comments: Probable disease-associated variant found in a patient with atrial fibrillation; reduces transcriptional activity; affects transcriptional regulation of NKX2-5 or GATA4.
up seq anno comments: Probable disease-associated variant found in a patient with atrial fibrillation; reduces transcriptional activity; affects transcriptional regulation of NKX2-5.
up seq anno comments: Probable disease-associated variant found in a patient with sporadic dilated cardiomyopathy; associated with disease susceptibility; associated with significantly decreased transcriptional activity.
up seq anno comments: Probable disease-associated variant found in patients with familial dilated cardiomyopathy; associated with disease susceptibility; associated with significantly decreased transcriptional activity.
up seq anno comments: T-box
up seq anno comments: T-box transcription factor TBX5
up seq anno feature ids: PRO_0000184435
up seq anno feature ids: VAR_007456
up seq anno feature ids: VAR_009701
up seq anno feature ids: VAR_009702
up seq anno feature ids: VAR_015381
up seq anno feature ids: VAR_015382
up seq anno feature ids: VAR_074599
up seq anno feature ids: VAR_074600
up seq anno feature ids: VAR_076642
up seq anno feature ids: VAR_076673
up seq anno feature ids: VSP_006387
up seq anno feature ids: VSP_006388
up seq anno feature ids: VSP_046845

9606:REEP6
gene id: 9606:REEP6
uniprot id: A0A1L5BXV2
uniprot id: Q96HR9
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In RP77.
up seq anno comments: In RP77; decreased protein levels; does not affect localization to endoplasmic reticulum.
up seq anno comments: In RP77; decreased protein levels; does not affect localization to endoplasmic reticulum; loss of rod photoreceptor function shown by a mouse knockin model of the mutation.
up seq anno comments: In RP77; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: Receptor expression-enhancing protein 6
up seq anno feature ids: PRO_0000101818
up seq anno feature ids: VAR_048927
up seq anno feature ids: VAR_077931
up seq anno feature ids: VAR_077932
up seq anno feature ids: VAR_081396
up seq anno feature ids: VAR_081397
up seq anno feature ids: VSP_058885

9606:ZNF423
gene id: 9606:ZNF423
uniprot id: B3KNG7
uniprot id: B7Z9C7
uniprot id: F5H7S1
uniprot id: Q2M1K9
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Zinc Finger
up seq anno comments: Abolishes the ability to bind promoter of BMP target genes; when associated with A-420; A-426; A-452; A-458; A-491; A-497; A-528; A-534 and A-574.
up seq anno comments: Abolishes the ability to bind promoter of BMP target genes; when associated with A-420; A-426; A-452; A-458; A-491; A-497; A-528; A-534 and A-581.
up seq anno comments: Abolishes the ability to bind promoter of BMP target genes; when associated with A-420; A-426; A-452; A-458; A-491; A-497; A-528; A-574 and A-581.
up seq anno comments: Abolishes the ability to bind promoter of BMP target genes; when associated with A-420; A-426; A-452; A-458; A-491; A-497; A-534; A-574 and A-581.
up seq anno comments: Abolishes the ability to bind promoter of BMP target genes; when associated with A-420; A-426; A-452; A-458; A-491; A-528; A-534; A-574 and A-581.
up seq anno comments: Abolishes the ability to bind promoter of BMP target genes; when associated with A-420; A-426; A-452; A-458; A-497; A-528; A-534; A-574 and A-581.
up seq anno comments: Abolishes the ability to bind promoter of BMP target genes; when associated with A-420; A-426; A-452; A-491; A-497; A-528; A-534; A-574 and A-581.
up seq anno comments: Abolishes the ability to bind promoter of BMP target genes; when associated with A-420; A-426; A-458; A-491; A-497; A-528; A-534; A-574 and A-581.
up seq anno comments: Abolishes the ability to bind promoter of BMP target genes; when associated with A-420; A-452; A-458; A-491; A-497; A-528; A-534; A-574 and A-581.
up seq anno comments: Abolishes the ability to bind promoter of BMP target genes; when associated with A-426; A-452; A-458; A-491; A-497; A-528; A-534; A-574 and A-581.
up seq anno comments: Basic and acidic residues
up seq anno comments: C2H2-type
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 12
up seq anno comments: C2H2-type 13; atypical
up seq anno comments: C2H2-type 14
up seq anno comments: C2H2-type 15
up seq anno comments: C2H2-type 16
up seq anno comments: C2H2-type 17
up seq anno comments: C2H2-type 18
up seq anno comments: C2H2-type 19
up seq anno comments: C2H2-type 1; degenerate
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 20
up seq anno comments: C2H2-type 21; degenerate
up seq anno comments: C2H2-type 22
up seq anno comments: C2H2-type 23
up seq anno comments: C2H2-type 24
up seq anno comments: C2H2-type 25; degenerate
up seq anno comments: C2H2-type 26
up seq anno comments: C2H2-type 27
up seq anno comments: C2H2-type 28
up seq anno comments: C2H2-type 29
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 30
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9; degenerate
up seq anno comments: Disordered
up seq anno comments: In JBTS19.
up seq anno comments: In NPHP14; found at homozygosity in two siblings with nephronophthisis, cerebellar vermis hypoplasia and situs inversus.
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues

9606:GMNN
gene id: 9606:GMNN
uniprot id: O75496
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Turn
up seq anno comments: Acidic residues
up seq anno comments: Disordered
up seq anno comments: Geminin
up seq anno comments: Homeodomain binding
up seq anno comments: In MGORS6.
up seq anno comments: N6-acetyllysine
up seq anno comments: Necessary and sufficient for interaction with IDAS and CDT1
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CK2
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000148729
up seq anno feature ids: VAR_024233
up seq anno feature ids: VAR_033959
up seq anno feature ids: VAR_033960
up seq anno feature ids: VAR_033961
up seq anno feature ids: VAR_053107
up seq anno feature ids: VAR_053108
up seq anno feature ids: VAR_076172

9606:CPSF2
gene id: 9606:CPSF2
uniprot id: Q9P2I0
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Cleavage and polyadenylation specificity factor subunit 2
up seq anno comments: Disordered
up seq anno comments: Does not inhibit histone 3'-end processing.
up seq anno comments: Inhibits histone 3'-end processing.
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000074393

9606:NUP88
gene id: 9606:NUP88
uniprot id: B4DP20
uniprot id: J3KMX1
uniprot id: Q99567
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: In FADS4; decreased localization to the nuclear pore complex; decreased interaction with NUP214 and NUP62.
up seq anno comments: In FADS4; no effect on localization to the nuclear pore complex; no effect on interaction with NUP214 and NUP62.
up seq anno comments: N-acetylalanine
up seq anno comments: Nuclear pore complex protein Nup88
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000204887
up seq anno feature ids: VAR_029340
up seq anno feature ids: VAR_082159
up seq anno feature ids: VAR_082160
up seq anno feature ids: VAR_082161

9606:MRPL16
gene id: 9606:MRPL16
uniprot id: Q9NX20
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: Large ribosomal subunit protein uL16m
up seq anno comments: Mitochondrion
up seq anno feature ids: PRO_0000239841
up seq anno feature ids: VAR_052006
up seq anno feature ids: VAR_052007
up seq anno feature ids: VAR_052008

9606:PACSIN1
gene id: 9606:PACSIN1
uniprot id: Q5TZC3
uniprot id: Q9BY11
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: F-BAR
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: Protein kinase C and casein kinase substrate in neurons protein 1
up seq anno comments: Reduces membrane-binding. Abolishes membrane tubulation.
up seq anno comments: SH3
up seq anno feature ids: PRO_0000161792
up seq anno feature ids: VAR_053554

9606:H2AC25
gene id: 9606:H2AC25
uniprot id: Q7L7L0
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno comments: Blocks the inhibition of transcription by RPS6KA5/MSK1.
up seq anno comments: Citrulline; alternate
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
up seq anno comments: Histone H2A type 3
up seq anno comments: N-acetylserine
up seq anno comments: N5-methylglutamine
up seq anno comments: N6-(2-hydroxyisobutyryl)lysine
up seq anno comments: N6-(2-hydroxyisobutyryl)lysine; alternate
up seq anno comments: N6-(beta-hydroxybutyryl)lysine; alternate
up seq anno comments: N6-crotonyllysine; alternate
up seq anno comments: N6-glutaryllysine; alternate
up seq anno comments: N6-lactoyllysine; alternate
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: Phosphoserine; by RPS6KA5
up seq anno comments: Phosphothreonine; by DCAF1
up seq anno comments: Removed
up seq anno comments: Symmetric dimethylarginine; by PRMT5; alternate
up seq anno feature ids: PRO_0000230201

9606:SRR
gene id: 9606:SRR
uniprot id: Q3ZK31
uniprot id: Q8N3F4
uniprot id: Q9GZT4
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Strand
up seq anno comments: N6-(pyridoxal phosphate)lysine
up seq anno comments: Proton acceptor
up seq anno comments: S-nitrosocysteine
up seq anno comments: Serine racemase
up seq anno comments: Tryptophan synthase beta chain-like PALP
up seq anno feature ids: PRO_0000185650

9606:LONRF1
gene id: 9606:LONRF1
uniprot id: Q17RB8
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: LON peptidase N-terminal domain and RING finger protein 1
up seq anno comments: Lon N-terminal
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: RING-type 1
up seq anno comments: RING-type 2
up seq anno comments: TPR 1
up seq anno comments: TPR 2
up seq anno comments: TPR 3
up seq anno comments: TPR 4
up seq anno feature ids: PRO_0000277669
up seq anno feature ids: VAR_058706
up seq anno feature ids: VSP_037971

9606:CRH
gene id: 9606:CRH
uniprot id: A0A0S2Z478
uniprot id: P06850
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Peptide
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Peptide
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Basic and acidic residues
up seq anno comments: Corticoliberin
up seq anno comments: Corticotropin-releasing factor
up seq anno comments: Disordered
up seq anno comments: Found in patients with autosomal dominant nocturnal frontal lobe epilepsy; unknown pathological significance; results in decreased protein levels; decreased protein secretion.
up seq anno comments: Isoleucine amide
up seq anno comments: No effect on affinity for CRFR1.
up seq anno comments: Pro residues
up seq anno comments: Strongly reduced affinity for CRFR1.
up seq anno feature ids: PRO_0000006212
up seq anno feature ids: PRO_0000006213
up seq anno feature ids: PRO_5006608285
up seq anno feature ids: VAR_075504

9606:TULP2
gene id: 9606:TULP2
uniprot id: O00295
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Found in a renal cell carcinoma sample; somatic mutation.
up seq anno comments: Phosphoserine
up seq anno comments: Tubby-related protein 2
up seq anno feature ids: PRO_0000186468
up seq anno feature ids: VAR_022136
up seq anno feature ids: VAR_024679
up seq anno feature ids: VAR_029312
up seq anno feature ids: VAR_057320
up seq anno feature ids: VAR_064760

9606:APBB3
gene id: 9606:APBB3
uniprot id: O95704
uniprot id: Q59EH2
uniprot id: Q96DX9
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Amyloid-beta A4 precursor protein-binding family B member 3
up seq anno comments: In isoform I-214.
up seq anno comments: In isoform I-245.
up seq anno comments: In isoform I.
up seq anno comments: In isoform III.
up seq anno comments: In isoform IV.
up seq anno comments: PID
up seq anno comments: PID 1
up seq anno comments: PID 2
up seq anno comments: WW
up seq anno feature ids: PRO_0000076054
up seq anno feature ids: VAR_024702
up seq anno feature ids: VAR_029518
up seq anno feature ids: VSP_006799
up seq anno feature ids: VSP_006800
up seq anno feature ids: VSP_006801
up seq anno feature ids: VSP_047811
up seq anno feature ids: VSP_047812
up seq anno feature ids: VSP_047813
up seq anno feature ids: VSP_047814

9606:SLC10A7
gene id: 9606:SLC10A7
uniprot id: Q0GE19
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In SSASKS.
up seq anno comments: In SSASKS; decreased protein levels; decreased expression at the cell membrane.
up seq anno comments: In SSASKS; mild skeletal features; results in altered regulation of calcium homeostasis and abnormal distribution of cellular calcium in patient fibroblasts.
up seq anno comments: In SSASKS; unknown pathological significance.
up seq anno comments: In isoform 1.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: In isoform 7.
up seq anno comments: Sodium/bile acid cotransporter 7
up seq anno feature ids: PRO_0000278250
up seq anno feature ids: VAR_082056
up seq anno feature ids: VAR_082057
up seq anno feature ids: VAR_082058
up seq anno feature ids: VAR_082059
up seq anno feature ids: VAR_082060
up seq anno feature ids: VSP_023215
up seq anno feature ids: VSP_023216
up seq anno feature ids: VSP_023217
up seq anno feature ids: VSP_023218
up seq anno feature ids: VSP_023219
up seq anno feature ids: VSP_023220
up seq anno feature ids: VSP_023221
up seq anno feature ids: VSP_023222
up seq anno feature ids: VSP_023223
up seq anno feature ids: VSP_059321

9606:PCSK5
gene id: 9606:PCSK5
uniprot id: Q92824
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Motif
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: AC 1
up seq anno comments: AC 2
up seq anno comments: CRM (Cys-rich motif)
up seq anno comments: Cell attachment site
up seq anno comments: Charge relay system
up seq anno comments: Cleavage; by autolysis
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: FU 1
up seq anno comments: FU 10
up seq anno comments: FU 11
up seq anno comments: FU 12
up seq anno comments: FU 13
up seq anno comments: FU 14
up seq anno comments: FU 15
up seq anno comments: FU 16
up seq anno comments: FU 17
up seq anno comments: FU 18
up seq anno comments: FU 19
up seq anno comments: FU 2
up seq anno comments: FU 20
up seq anno comments: FU 21
up seq anno comments: FU 22
up seq anno comments: FU 3
up seq anno comments: FU 4
up seq anno comments: FU 5
up seq anno comments: FU 6
up seq anno comments: FU 7
up seq anno comments: FU 8
up seq anno comments: FU 9
up seq anno comments: Helical
up seq anno comments: In isoform PC6A.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: P/Homo B
up seq anno comments: PLAC
up seq anno comments: Peptidase S8
up seq anno comments: Proprotein convertase subtilisin/kexin type 5
up seq anno feature ids: PRO_0000027102
up seq anno feature ids: PRO_0000027103
up seq anno feature ids: VSP_042017
up seq anno feature ids: VSP_042018

9606:BEND6
gene id: 9606:BEND6
uniprot id: Q5SZJ8
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: BEN
up seq anno comments: BEN domain-containing protein 6
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000295660
up seq anno feature ids: VSP_026961
up seq anno feature ids: VSP_026962
up seq anno feature ids: VSP_026963
up seq anno feature ids: VSP_026964
up seq anno feature ids: VSP_026965
up seq anno feature ids: VSP_026966

9606:RLF
gene id: 9606:RLF
uniprot id: Q13129
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 12
up seq anno comments: C2H2-type 13
up seq anno comments: C2H2-type 14
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Zinc finger protein Rlf
up seq anno feature ids: PRO_0000047325
up seq anno feature ids: VAR_052739
up seq anno feature ids: VAR_052740
up seq anno feature ids: VAR_052741
up seq anno feature ids: VAR_052742
up seq anno feature ids: VAR_061929
up seq anno feature ids: VAR_061930

9606:DOCK5
gene id: 9606:DOCK5
uniprot id: B9A015
uniprot id: Q68DL4
uniprot id: Q9H7D0
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: C2 DOCK-type
up seq anno comments: DOCKER
up seq anno comments: Dedicator of cytokinesis protein 5
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: SH3
up seq anno feature ids: PRO_0000189992
up seq anno feature ids: VAR_033886
up seq anno feature ids: VAR_033887
up seq anno feature ids: VAR_053065
up seq anno feature ids: VAR_053066
up seq anno feature ids: VSP_021868

9606:ZFAT
gene id: 9606:ZFAT
uniprot id: B7Z6H1
uniprot id: E9PBN4
uniprot id: F8W7M8
uniprot id: Q4KMQ4
uniprot id: Q6PJQ2
uniprot id: Q9P243
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: C2H2-type
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 12
up seq anno comments: C2H2-type 13
up seq anno comments: C2H2-type 14; degenerate
up seq anno comments: C2H2-type 15
up seq anno comments: C2H2-type 16
up seq anno comments: C2H2-type 17
up seq anno comments: C2H2-type 18
up seq anno comments: C2H2-type 19
up seq anno comments: C2H2-type 2; degenerate
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: Disordered
up seq anno comments: Found in a patient with global developmental delay; unknown pathological significance.
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Polar residues
up seq anno comments: Zinc finger protein ZFAT
up seq anno feature ids: PRO_0000047566
up seq anno feature ids: VAR_024840
up seq anno feature ids: VAR_045815
up seq anno feature ids: VAR_052819
up seq anno feature ids: VAR_084658
up seq anno feature ids: VSP_016959
up seq anno feature ids: VSP_034938
up seq anno feature ids: VSP_034939
up seq anno feature ids: VSP_045461

9606:BTBD1
gene id: 9606:BTBD1
uniprot id: Q9H0C5
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: BACK
up seq anno comments: BTB
up seq anno comments: BTB/POZ domain-containing protein 1
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000186208
up seq anno feature ids: VSP_047146
up seq anno feature ids: VSP_047147

9606:APBB1IP
gene id: 9606:APBB1IP
uniprot id: Q7Z5R6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Turn
up seq anno comments: Amyloid beta A4 precursor protein-binding family B member 1-interacting protein
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: PH
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Ras-associating
up seq anno feature ids: PRO_0000181347
up seq anno feature ids: VAR_050098
up seq anno feature ids: VAR_059447
up seq anno feature ids: VSP_056542
up seq anno feature ids: VSP_056543

9606:MRGPRX3
gene id: 9606:MRGPRX3
uniprot id: Q96LB0
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: Mas-related G-protein coupled receptor member X3
up seq anno feature ids: PRO_0000069782
up seq anno feature ids: VAR_019434
up seq anno feature ids: VAR_025507

9606:PLOD1
gene id: 9606:PLOD1
uniprot id: Q02809
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Fe2OG dioxygenase
up seq anno comments: In EDSKSCL1.
up seq anno comments: In EDSKSCL1; loss of enzyme activity.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of activity.
up seq anno comments: Loss of enzyme activity.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
up seq anno feature ids: PRO_0000024678
up seq anno feature ids: VAR_006354
up seq anno feature ids: VAR_006355
up seq anno feature ids: VAR_006356
up seq anno feature ids: VAR_009269
up seq anno feature ids: VAR_014220
up seq anno feature ids: VAR_023466
up seq anno feature ids: VAR_023467
up seq anno feature ids: VAR_023468
up seq anno feature ids: VAR_032754
up seq anno feature ids: VAR_032755
up seq anno feature ids: VAR_032756
up seq anno feature ids: VAR_035479
up seq anno feature ids: VSP_056300

9606:HCLS1
gene id: 9606:HCLS1
uniprot id: P14317
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Cortactin 1
up seq anno comments: Cortactin 2
up seq anno comments: Cortactin 3
up seq anno comments: Cortactin 4; truncated
up seq anno comments: Disordered
up seq anno comments: Hematopoietic lineage cell-specific protein
up seq anno comments: In isoform 2.
up seq anno comments: Involved in HAX-1 binding
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Phosphotyrosine; by FGR
up seq anno comments: Phosphotyrosine; by SYK and FES
up seq anno comments: SH3
up seq anno feature ids: PRO_0000083921
up seq anno feature ids: VAR_055006
up seq anno feature ids: VAR_055007
up seq anno feature ids: VAR_056910
up seq anno feature ids: VSP_056429
up seq anno feature ids: VSP_056430

9606:RPL18
gene id: 9606:RPL18
uniprot id: Q07020
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In DBA18; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: Large ribosomal subunit protein eL18
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000132769
up seq anno feature ids: VAR_081935
up seq anno feature ids: VSP_055170

9606:EEF1AKMT4
gene id: 9606:EEF1AKMT4
uniprot id: P0DPD7
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes methyltransferase activity.
up seq anno comments: Abolishes protein-lysine N-methyltransferase activity.
up seq anno comments: EEF1A lysine methyltransferase 4
up seq anno comments: Phosphotyrosine
up seq anno comments: Reduces protein-lysine N-methyltransferase activity.
up seq anno comments: Required for methyltransferase activity
up seq anno feature ids: PRO_0000443290
up seq anno feature ids: VAR_047752

9606:SRP54
gene id: 9606:SRP54
uniprot id: P61011
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: In SCN8.
up seq anno comments: In SCN8; decreased granulocyte proliferation; delayed granulocytic differentiation; impaired signaling; induced autophagy.
up seq anno comments: In SCN8; decreased granulocyte proliferation; increased apoptosis.
up seq anno comments: In SCN8; decreased granulocyte proliferation; induced autophagy.
up seq anno comments: In SCN8; decreases expression levels; decreases GTPase activity; decreases neutrophil numbers and migration capacity.
up seq anno comments: In SCN8; decreases expression levels; decreases neutrophil numbers and migration capacity; faster dissociation of the interaction with the SRP receptor subunit SRPRA; reduced SR compaction; impaired interaction with SR; impaired detachment from ribosome; effects on enzymatic activity are unclear as both normal and reduced GTPase activity have been reported.
up seq anno comments: In SCN8; decreases expression levels; slightly decreases GTPase activity; decreases neutrophil numbers and migration capacity; decreased granulocyte proliferation; delayed granulocytic differentiation; impaired signaling; increased apoptosis; induced autophagy.
up seq anno comments: In isoform 2.
up seq anno comments: M-domain
up seq anno comments: NG domain
up seq anno comments: Signal recognition particle subunit SRP54
up seq anno feature ids: PRO_0000101192
up seq anno feature ids: VAR_083566
up seq anno feature ids: VAR_083567
up seq anno feature ids: VAR_083568
up seq anno feature ids: VAR_083569
up seq anno feature ids: VAR_083570
up seq anno feature ids: VAR_083571
up seq anno feature ids: VAR_083572
up seq anno feature ids: VAR_083573
up seq anno feature ids: VSP_043696

9606:PSMD5
gene id: 9606:PSMD5
uniprot id: Q16401
up seq anno parent labels: Chain
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: 26S proteasome non-ATPase regulatory subunit 5
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylalanine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000173835
up seq anno feature ids: VAR_051556
up seq anno feature ids: VAR_051557
up seq anno feature ids: VSP_045176

9606:FJX1
gene id: 9606:FJX1
uniprot id: Q86VR8
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Disordered
up seq anno comments: Four-jointed box protein 1
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000333045
up seq anno feature ids: VAR_043117
up seq anno feature ids: VAR_062233

9606:TVP23A
gene id: 9606:TVP23A
uniprot id: A6NH52
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Golgi apparatus membrane protein TVP23 homolog A
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000327940
up seq anno feature ids: VSP_054190

9606:NPIPA8
gene id: 9606:NPIPA8
uniprot id: E9PJI5
uniprot id: P0DM63
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Region
up seq anno comments: Disordered
up seq anno comments: Nuclear pore complex-interacting protein family member A7
up seq anno comments: Nuclear pore complex-interacting protein family member A8
up seq anno feature ids: PRO_0000423919
up seq anno feature ids: PRO_0000423925

9606:CYP27B1
gene id: 9606:CYP27B1
uniprot id: O15528
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Transit Peptide
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Transit Peptide
up seq anno comments: 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial
up seq anno comments: In VDDR1A.
up seq anno comments: In VDDR1A; 11% of wild-type activity.
up seq anno comments: In VDDR1A; 2.3% of wild-type activity.
up seq anno comments: In VDDR1A; 22% of wild-type activity.
up seq anno comments: In VDDR1A; complete loss of activity.
up seq anno comments: Mitochondrion
up seq anno comments: axial binding residue
up seq anno feature ids: PRO_0000003622
up seq anno feature ids: VAR_016952
up seq anno feature ids: VAR_016953
up seq anno feature ids: VAR_016954
up seq anno feature ids: VAR_016955
up seq anno feature ids: VAR_016956
up seq anno feature ids: VAR_016957
up seq anno feature ids: VAR_016958
up seq anno feature ids: VAR_016959
up seq anno feature ids: VAR_016960
up seq anno feature ids: VAR_016961
up seq anno feature ids: VAR_016967
up seq anno feature ids: VAR_016968
up seq anno feature ids: VAR_016969
up seq anno feature ids: VAR_016970
up seq anno feature ids: VAR_016971
up seq anno feature ids: VAR_016972
up seq anno feature ids: VAR_016973
up seq anno feature ids: VAR_016974
up seq anno feature ids: VAR_018841

9606:CLSTN1
gene id: 9606:CLSTN1
uniprot id: B4E3Q1
uniprot id: O94985
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Abolishes interaction with APBA2.
up seq anno comments: Acidic residues
up seq anno comments: CTF1-alpha
up seq anno comments: Cadherin
up seq anno comments: Cadherin 1
up seq anno comments: Cadherin 2
up seq anno comments: Calsyntenin-1
up seq anno comments: Cleavage
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No effect on APBA2-binding.
up seq anno comments: Polar residues
up seq anno comments: Soluble Alc-alpha
up seq anno feature ids: PRO_0000004021
up seq anno feature ids: PRO_0000323597
up seq anno feature ids: PRO_0000323598
up seq anno feature ids: PRO_5002804102
up seq anno feature ids: VAR_039552
up seq anno feature ids: VAR_039553
up seq anno feature ids: VAR_039554
up seq anno feature ids: VAR_039555
up seq anno feature ids: VAR_039556
up seq anno feature ids: VAR_048582
up seq anno feature ids: VSP_032035

9606:SLC12A8
gene id: 9606:SLC12A8
uniprot id: A0AV02
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: Solute carrier family 12 member 8
up seq anno feature ids: PRO_0000305287
up seq anno feature ids: VAR_035199
up seq anno feature ids: VAR_035200
up seq anno feature ids: VAR_035201
up seq anno feature ids: VAR_035202
up seq anno feature ids: VAR_062148
up seq anno feature ids: VSP_028327
up seq anno feature ids: VSP_028328
up seq anno feature ids: VSP_028329
up seq anno feature ids: VSP_028330
up seq anno feature ids: VSP_028331
up seq anno feature ids: VSP_028332

9606:FLT3
gene id: 9606:FLT3
uniprot id: P36888
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Abolishes interaction with PTPN11/SHP2 and phosphorylation of PTPN11/SHP2.
up seq anno comments: Abolishes kinase activity.
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Ig-like C2-type
up seq anno comments: Important for normal regulation of the kinase activity and for maintaining the kinase in an inactive state in the absence of bound ligand
up seq anno comments: In acute lymphoblastic leukemia patients and acute myelogenous leukemia patients; somatic mutation; constitutively activated.
up seq anno comments: In acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated.
up seq anno comments: In acute lymphoblastic leukemia patients; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No significant effect on tyrosine phosphorylation. Abolishes activation of STAT5A.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Phosphotyrosine; by autocatalysis
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Receptor-type tyrosine-protein kinase FLT3
up seq anno comments: Reduced phosphorylation of the wild-type kinase in response to ligand binding. No effect on the phosphorylation of the constitutively activated mutant kinase variants. Abolishes activation of STAT5A.
up seq anno feature ids: PRO_0000016778
up seq anno feature ids: VAR_034677
up seq anno feature ids: VAR_034678
up seq anno feature ids: VAR_042069
up seq anno feature ids: VAR_042070
up seq anno feature ids: VAR_042071
up seq anno feature ids: VAR_042072
up seq anno feature ids: VAR_054149
up seq anno feature ids: VAR_061291
up seq anno feature ids: VAR_065679
up seq anno feature ids: VAR_065680
up seq anno feature ids: VAR_065681
up seq anno feature ids: VAR_065682
up seq anno feature ids: VAR_065683
up seq anno feature ids: VAR_065684
up seq anno feature ids: VSP_041796

9606:CGRRF1
gene id: 9606:CGRRF1
uniprot id: Q99675
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Cell growth regulator with RING finger domain protein 1
up seq anno comments: RING-type
up seq anno feature ids: PRO_0000055869
up seq anno feature ids: VAR_052081

9606:TIMM8A
gene id: 9606:TIMM8A
uniprot id: A0A2R8YDA8
uniprot id: O60220
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: In MTS; disrupts the assembly of the heterohexamer with TIMM13.
up seq anno comments: Mitochondrial import inner membrane translocase subunit Tim8 A
up seq anno comments: Phosphoserine
up seq anno comments: Tim10-like
up seq anno comments: Twin CX3C motif
up seq anno feature ids: PRO_0000193584
up seq anno feature ids: VAR_010237

9606:DCST1
gene id: 9606:DCST1
uniprot id: B4DXB8
uniprot id: B4DXE3
uniprot id: Q5T197
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Zinc Finger
up seq anno comments: Cytoplasmic
up seq anno comments: Dendritic cell-specific transmembrane protein-like
up seq anno comments: Disordered
up seq anno comments: E3 ubiquitin-protein ligase DCST1
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: RING-type
up seq anno comments: RING-type; degenerate
up seq anno feature ids: PRO_0000278824
up seq anno feature ids: VAR_030868
up seq anno feature ids: VAR_056859
up seq anno feature ids: VSP_023406
up seq anno feature ids: VSP_023407
up seq anno feature ids: VSP_045619

9606:IL2RB
gene id: 9606:IL2RB
uniprot id: P14784
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Box 1 motif
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Fibronectin type-III
up seq anno comments: Helical
up seq anno comments: In IMD63.
up seq anno comments: In IMD63; decreased protein abundance; changed IL-2 and IL-15 signaling pathways; plasma levels of both IL2 and IL15 were increased; associated with increased amounts of phosphorylated STAT5A.
up seq anno comments: Interleukin-2 receptor subunit beta
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Partial loss of interaction with SHB; when associated with F-418.
up seq anno comments: Partial loss of interaction with SHB; when associated with F-536.
up seq anno comments: Pro residues
up seq anno comments: WSXWS motif
up seq anno feature ids: PRO_0000010878
up seq anno feature ids: VAR_019998
up seq anno feature ids: VAR_021994
up seq anno feature ids: VAR_061186
up seq anno feature ids: VAR_083103
up seq anno feature ids: VAR_083104

9606:EGFR
gene id: 9606:EGFR
uniprot id: B7Z2I3
uniprot id: C9JYS6
uniprot id: E7BSV0
uniprot id: F2YGG7
uniprot id: P00533
uniprot id: Q504U8
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: 50% decrease in interaction with PIK3C2B. 65% decrease in interaction with PIK3C2B; when associated with F-1197. Abolishes interaction with PIK3C2B; when associated with F-1197 and F-1092.
up seq anno comments: Abolishes autophosphorylation and activation of downstream kinases.
up seq anno comments: Abolishes interaction with CBLC.
up seq anno comments: Abolishes kinase activity.
up seq anno comments: Abolishes palmitoylation.
up seq anno comments: Abolishes phosphorylation.
up seq anno comments: Approximate
up seq anno comments: Constitutively activated kinase.
up seq anno comments: Cytoplasmic
up seq anno comments: Decreased palmitoylation.
up seq anno comments: Decreases intramolecular interactions and facilitates EGF binding.
up seq anno comments: Decreases intramolecular interactions and facilitates EGF binding. Increased EGF binding; when associated with A-587; A-590 and A-609.
up seq anno comments: Disordered
up seq anno comments: Epidermal growth factor receptor
up seq anno comments: Extracellular
up seq anno comments: Found in a lung cancer sample.
up seq anno comments: Found in a lung cancer sample; constitutively activated kinase with higher levels of basal autophosphorylation; more sensitive to gefitinib than wild-type.
up seq anno comments: Found in a lung cancer sample; increased kinase activity.
up seq anno comments: Found in a lung cancer sample; more sensitive to gefitinib than wild-type.
up seq anno comments: Found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity; more sensitive to gefitinib than wild-type.
up seq anno comments: Found in a lung cancer sample; somatic mutation; strongly increased kinase activity; constitutively activated kinase with higher levels of basal autophosphorylation; more sensitive to gefitinib than wild-type.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)

9606:PIP5K1B
gene id: 9606:PIP5K1B
uniprot id: O14986
uniprot id: Q7KYT6
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: PIPK
up seq anno comments: Phosphatidylinositol 4-phosphate 5-kinase type-1 beta
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000185458
up seq anno feature ids: VAR_023712
up seq anno feature ids: VSP_016010
up seq anno feature ids: VSP_016011
up seq anno feature ids: VSP_054771

9606:GRIN2D
gene id: 9606:GRIN2D
uniprot id: O15399
uniprot id: Q59G17
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: INTRAMEM
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: INTRAMEM
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Basic residues
up seq anno comments: Changed glutamate-gated calcium ion channel activity characterized by increased glutamate and glycine potency.
up seq anno comments: Cytoplasmic
up seq anno comments: Discontinuously helical
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Found in a patient with autism spectrum disorder; unknown pathological significance.
up seq anno comments: Found in a patient with schizophrenia; unknown pathological significance.
up seq anno comments: Found in patients with schizophrenia; unknown pathological significance.
up seq anno comments: Functional determinant of NMDA receptors
up seq anno comments: Glutamate receptor ionotropic, NMDA 2D
up seq anno comments: Helical
up seq anno comments: In DEE46; gain-of-function mutation that potentiates ionotropic glutamate receptor signaling; mutant receptors are activated by lower concentrations of glutamate and glycine and show slower deactivation after agonist removal as well as decreased sensitivity to allosteric inhibitors indicating that NMDA glutamate receptor activity is changed.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: Increased glutamate and glycine agonist potency.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Omega-N-methylarginine
up seq anno comments: PDZ-binding
up seq anno comments: Phosphoserine
up seq anno comments: Pore-forming
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000011583
up seq anno feature ids: VAR_035698
up seq anno feature ids: VAR_035699
up seq anno feature ids: VAR_035700
up seq anno feature ids: VAR_077103
up seq anno feature ids: VAR_079975
up seq anno feature ids: VAR_079976
up seq anno feature ids: VAR_079977
up seq anno feature ids: VAR_079978
up seq anno feature ids: VAR_079979
up seq anno feature ids: VAR_079980

9606:RFPL2
gene id: 9606:RFPL2
uniprot id: O75678
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: B30.2/SPRY
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: RING-type; degenerate
up seq anno comments: Ret finger protein-like 2
up seq anno feature ids: PRO_0000056031
up seq anno feature ids: VAR_060534
up seq anno feature ids: VAR_060535
up seq anno feature ids: VAR_060536
up seq anno feature ids: VAR_060537
up seq anno feature ids: VAR_060538
up seq anno feature ids: VAR_060539
up seq anno feature ids: VAR_060540
up seq anno feature ids: VSP_038326
up seq anno feature ids: VSP_038327
up seq anno feature ids: VSP_059822
up seq anno feature ids: VSP_059823

9606:SOX17
gene id: 9606:SOX17
uniprot id: Q9H6I2
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: 9aaTAD
up seq anno comments: Disordered
up seq anno comments: HMG box
up seq anno comments: In VUR3.
up seq anno comments: In VUR3; increased levels of the mutant protein that is associated with increased suppression of CTNNB1 signaling of the Wnt pathway compared to wild-type.
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Sox C-terminal
up seq anno comments: Transcription factor SOX-17
up seq anno feature ids: PRO_0000048765
up seq anno feature ids: VAR_065168
up seq anno feature ids: VAR_065169
up seq anno feature ids: VAR_065170
up seq anno feature ids: VAR_078774

9606:OPTC
gene id: 9606:OPTC
uniprot id: Q9UBM4
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno comments: Basic and acidic residues
up seq anno comments: Cleavage; by MMP13
up seq anno comments: Cleavage; by MMP2
up seq anno comments: Cleavage; by MMP7
up seq anno comments: Disordered
up seq anno comments: LRR 1
up seq anno comments: LRR 2
up seq anno comments: LRR 3
up seq anno comments: LRR 4
up seq anno comments: LRR 5
up seq anno comments: LRR 6
up seq anno comments: LRRNT
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Opticin
up seq anno comments: Sulfotyrosine
up seq anno feature ids: PRO_0000032765
up seq anno feature ids: VAR_055228
up seq anno feature ids: VAR_055229
up seq anno feature ids: VAR_055230

9606:ZNF480
gene id: 9606:ZNF480
uniprot id: B7Z8E1
uniprot id: F8WEZ9
uniprot id: Q8WV37
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 12
up seq anno comments: C2H2-type 1; atypical
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5; degenerate
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 480
up seq anno feature ids: PRO_0000047607
up seq anno feature ids: VAR_033569
up seq anno feature ids: VAR_035584
up seq anno feature ids: VSP_016214
up seq anno feature ids: VSP_016215

9606:CACNG2
gene id: 9606:CACNG2
uniprot id: Q9Y698
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In MRD10; significantly reduced ability to bind GRIA1 or GRIA2 AMPARs; cell surface expression of GRIA1 is reduced in transfected hippocampal neurons and HEK293 cells producing mutant protein compared to cells producing the wild-type.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Voltage-dependent calcium channel gamma-2 subunit
up seq anno feature ids: PRO_0000164673
up seq anno feature ids: VAR_066599

9606:SWAP70
gene id: 9606:SWAP70
uniprot id: B3KUB9
uniprot id: E7EMB1
uniprot id: Q9UH65
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno comments: Abolishes binding to phosphatidylinositol 3,4-bisphosphate and phosphatidic acid and the localization to the loose actin filament arrays.
up seq anno comments: Abolishes binding to plasma membrane.
up seq anno comments: Affects targeting to loose actin filament arrays.
up seq anno comments: EF-hand
up seq anno comments: PH
up seq anno comments: Reduced binding to phosphatidylinositol 3,4-bisphosphate and reduced association with actin filament.
up seq anno comments: Switch-associated protein 70
up seq anno feature ids: PRO_0000240280
up seq anno feature ids: VAR_026717
up seq anno feature ids: VAR_059548

9606:PSMG1
gene id: 9606:PSMG1
uniprot id: O95456
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Proteasome assembly chaperone 1
up seq anno comments: Removed
up seq anno feature ids: PRO_0000080018
up seq anno feature ids: VAR_054014
up seq anno feature ids: VSP_017261

9606:CYP11B1
gene id: 9606:CYP11B1
uniprot id: P15538
uniprot id: Q8TDD0
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: Benign variant; decreases steroid 11-beta-hydroxylase activity.
up seq anno comments: Cytochrome P450 11B1, mitochondrial
up seq anno comments: In AH4.
up seq anno comments: In AH4; abolishes steroid 11-beta-hydroxylase activity.
up seq anno comments: In AH4; almost abolishes steroid 11-beta-hydroxylase activity.
up seq anno comments: In AH4; classic; abolishes steroid 11-beta-hydroxylase activity.
up seq anno comments: In AH4; classic; highly decreases steroid 11-beta-hydroxylase activity.
up seq anno comments: In AH4; decreases steroid 11-beta-hydroxylase activity.
up seq anno comments: In AH4; high reduction of steroid 11-beta-monooxygenase activity.
up seq anno comments: In AH4; highly decreases steroid 11-beta-hydroxylase activity.
up seq anno comments: In AH4; non-classic; almost abolishes steroid 11-beta-hydroxylase activity.
up seq anno comments: In AH4; non-classic; decreases steroid 11-beta-hydroxylase activity.
up seq anno comments: In AH4; non-classic; highly decreases steroid 11-beta-hydroxylase activity.
up seq anno comments: In AH4; slightly decreases steroid 11-beta-hydroxylase activity.
up seq anno comments: In AH4; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: Mitochondrion
up seq anno comments: axial binding residue
up seq anno feature ids: PRO_0000003596
up seq anno feature ids: VAR_001260
up seq anno feature ids: VAR_001261
up seq anno feature ids: VAR_001262
up seq anno feature ids: VAR_001263
up seq anno feature ids: VAR_001264
up seq anno feature ids: VAR_001265
up seq anno feature ids: VAR_008687
up seq anno feature ids: VAR_014145
up seq anno feature ids: VAR_014146
up seq anno feature ids: VAR_014147
up seq anno feature ids: VAR_014148
up seq anno feature ids: VAR_014149
up seq anno feature ids: VAR_014150
up seq anno feature ids: VAR_014638
up seq anno feature ids: VAR_014639
up seq anno feature ids: VAR_014640
up seq anno feature ids: VAR_014641
up seq anno feature ids: VAR_014642
up seq anno feature ids: VAR_048462
up seq anno feature ids: VAR_048463
up seq anno feature ids: VAR_065196
up seq anno feature ids: VAR_065197
up seq anno feature ids: VAR_065666
up seq anno feature ids: VAR_065667
up seq anno feature ids: VAR_074493
up seq anno feature ids: VAR_074494
up seq anno feature ids: VAR_074495
up seq anno feature ids: VAR_074496
up seq anno feature ids: VAR_074497
up seq anno feature ids: VAR_074498
up seq anno feature ids: VAR_074499
up seq anno feature ids: VAR_074500
up seq anno feature ids: VAR_074501
up seq anno feature ids: VAR_074502
up seq anno feature ids: VAR_074503
up seq anno feature ids: VAR_074504
up seq anno feature ids: VAR_074505
up seq anno feature ids: VAR_074506

9606:MICOS10
gene id: 9606:MICOS10
uniprot id: Q5TGZ0
up seq anno parent labels: Chain
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: MICOS complex subunit MIC10
up seq anno comments: Mitochondrial intermembrane
up seq anno comments: N-acetylserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000249459
up seq anno feature ids: VSP_042062
up seq anno feature ids: VSP_042063

9606:FMNL3
gene id: 9606:FMNL3
uniprot id: Q8IVF7
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Initiator Methionine
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno comments: DAD
up seq anno comments: Disordered
up seq anno comments: FH2
up seq anno comments: Formin-like protein 3
up seq anno comments: GBD/FH3
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3 and isoform 2.
up seq anno comments: N-myristoyl glycine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Pro residues
up seq anno comments: Removed
up seq anno feature ids: PRO_0000289095
up seq anno feature ids: VSP_025892
up seq anno feature ids: VSP_025893

9606:CHCHD2
gene id: 9606:CHCHD2
uniprot id: Q9Y6H1
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: CHCH
up seq anno comments: Coiled-coil-helix-coiled-coil-helix domain-containing protein 2
up seq anno comments: Cx9C motif 1
up seq anno comments: Cx9C motif 2
up seq anno comments: Disordered
up seq anno comments: In PARK22; does not affect subcellular location.
up seq anno comments: In PARK22; unknown pathological significance; does not affect subcellular location.
up seq anno comments: May influence risk for Lewy body disorders.
up seq anno feature ids: PRO_0000129160
up seq anno feature ids: VAR_048699
up seq anno feature ids: VAR_076293
up seq anno feature ids: VAR_076294
up seq anno feature ids: VAR_076295
up seq anno feature ids: VAR_076296
up seq anno feature ids: VAR_076297
up seq anno feature ids: VAR_076298
up seq anno feature ids: VAR_076299
up seq anno feature ids: VAR_076300
up seq anno feature ids: VAR_076301

9606:TMEM72
gene id: 9606:TMEM72
uniprot id: A0PK05
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno comments: Transmembrane protein 72
up seq anno feature ids: PRO_0000319055
up seq anno feature ids: VSP_031343

9606:HSPB8
gene id: 9606:HSPB8
uniprot id: Q9UJY1
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Asymmetric dimethylarginine
up seq anno comments: Disordered
up seq anno comments: Heat shock protein beta-8
up seq anno comments: In HMN2A; no effect on cytoskeleton architecture; no effect on cytoplasmic location; increased interaction with BAG3.
up seq anno comments: In HMN2A; no effect on cytoskeleton architecture; no effect on cytoplasmic location; no effect on interaction with BAG3.
up seq anno comments: In HMN2A; strengthen interaction with HSPB1.
up seq anno comments: In HMN2A; strengthen interaction with HSPB1; no effect on cytoskeleton architecture; no effect on cytoplasmic location; increased interaction with BAG3.
up seq anno comments: In a glioblastoma multiforme sample; somatic mutation.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine; by PKC; in vitro
up seq anno comments: sHSP
up seq anno feature ids: PRO_0000125945
up seq anno feature ids: VAR_018504
up seq anno feature ids: VAR_018505
up seq anno feature ids: VAR_042244
up seq anno feature ids: VAR_042245
up seq anno feature ids: VAR_078133
up seq anno feature ids: VAR_078134
up seq anno feature ids: VAR_078135

9606:PDE6G
gene id: 9606:PDE6G
uniprot id: P18545
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: N-acetylmethionine
up seq anno comments: Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma
up seq anno feature ids: PRO_0000166117
up seq anno feature ids: VAR_009294

9606:EFNA5
gene id: 9606:EFNA5
uniprot id: P52803
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Lipid Binding
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: Ephrin RBD
up seq anno comments: Ephrin-A5
up seq anno comments: GPI-anchor amidated asparagine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Removed in mature form
up seq anno feature ids: PRO_0000008377
up seq anno feature ids: PRO_0000008378
up seq anno feature ids: VAR_012035

9606:LZTFL1
gene id: 9606:LZTFL1
uniprot id: Q9NQ48
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: In BBS17.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Increases BBS4, BBS8 and BBS9 ciliary localization.
up seq anno comments: Interaction with BSS9
up seq anno comments: Leucine zipper transcription factor-like protein 1
up seq anno feature ids: PRO_0000318757
up seq anno feature ids: VAR_038877
up seq anno feature ids: VAR_038878
up seq anno feature ids: VAR_038879
up seq anno feature ids: VAR_070104
up seq anno feature ids: VSP_053428
up seq anno feature ids: VSP_053429
up seq anno feature ids: VSP_053430

9606:RPF1
gene id: 9606:RPF1
uniprot id: Q9H9Y2
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Brix
up seq anno comments: Disordered
up seq anno comments: RNA-binding
up seq anno comments: Ribosome production factor 1
up seq anno feature ids: PRO_0000120248
up seq anno feature ids: VAR_022871
up seq anno feature ids: VAR_048421

9606:CCT8L2
gene id: 9606:CCT8L2
uniprot id: Q96SF2
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: T-complex protein 1 subunit theta-like 2
up seq anno feature ids: PRO_0000347339
up seq anno feature ids: VAR_046042

9606:TMPRSS9
gene id: 9606:TMPRSS9
uniprot id: A0A3B3IU58
uniprot id: Q0X0F2
uniprot id: Q7Z410
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Charge relay system
up seq anno comments: Cleavage
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: LDL-receptor class A
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Peptidase S1
up seq anno comments: Peptidase S1 1
up seq anno comments: Peptidase S1 2
up seq anno comments: Peptidase S1 3
up seq anno comments: Polar residues
up seq anno comments: SEA
up seq anno comments: Serase-1
up seq anno comments: Serase-2
up seq anno comments: Serase-3
up seq anno comments: Transmembrane protease serine 9
up seq anno feature ids: PRO_0000027867
up seq anno feature ids: PRO_0000027868
up seq anno feature ids: PRO_0000027869
up seq anno feature ids: PRO_0000027870
up seq anno feature ids: VAR_021508
up seq anno feature ids: VAR_021509
up seq anno feature ids: VAR_021510
up seq anno feature ids: VAR_033650
up seq anno feature ids: VAR_051845
up seq anno feature ids: VAR_051846
up seq anno feature ids: VAR_061774

9606:REN
gene id: 9606:REN
uniprot id: P00797
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Propeptide
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Activation peptide
up seq anno comments: In ADTKD4; affects ER translocation and processing of nascent preprorenin, resulting in abolished prorenin and renin biosynthesis and secretion.
up seq anno comments: In RTD.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Peptidase A1
up seq anno comments: Renin
up seq anno feature ids: PRO_0000026081
up seq anno feature ids: PRO_0000026082
up seq anno feature ids: VAR_020375
up seq anno feature ids: VAR_020376
up seq anno feature ids: VAR_029171
up seq anno feature ids: VAR_035087
up seq anno feature ids: VAR_035088
up seq anno feature ids: VAR_063770
up seq anno feature ids: VSP_012899

9606:ADAM32
gene id: 9606:ADAM32
uniprot id: A0A140VJD9
uniprot id: B4DTC2
uniprot id: Q8TC27
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disintegrin
up seq anno comments: Disintegrin and metalloproteinase domain-containing protein 32
up seq anno comments: Disordered
up seq anno comments: EGF-like
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Peptidase M12B
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000029138
up seq anno feature ids: PRO_0000029139
up seq anno feature ids: PRO_5007491835
up seq anno feature ids: VAR_051591
up seq anno feature ids: VAR_055241
up seq anno feature ids: VAR_055242
up seq anno feature ids: VAR_055243
up seq anno feature ids: VAR_055244
up seq anno feature ids: VAR_061739

9606:SAT2
gene id: 9606:SAT2
uniprot id: I3L0W4
uniprot id: Q502X4
uniprot id: Q96F10
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: N-acetyltransferase
up seq anno comments: N6-acetyllysine
up seq anno comments: Pro residues
up seq anno comments: Proton donor
up seq anno comments: Thialysine N-epsilon-acetyltransferase
up seq anno feature ids: PRO_0000074598
up seq anno feature ids: VAR_020465

9606:BUD23
gene id: 9606:BUD23
uniprot id: O43709
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno comments: Probable 18S rRNA (guanine-N(7))-methyltransferase
up seq anno comments: Resistant to down-regulation in response to TNF and IFNG combined treatment and effective coactivator for NR3C1, even in the presence of TNF and IFNG; when associated R-180.
up seq anno comments: Resistant to down-regulation in response to TNF and IFNG combined treatment and effective coactivator for NR3C1, even in the presence of TNF and IFNG; when associated R-196.
up seq anno feature ids: PRO_0000204450
up seq anno feature ids: VSP_011511
up seq anno feature ids: VSP_054762

9606:OR1C1
gene id: 9606:OR1C1
uniprot id: A0A126GV94
uniprot id: Q15619
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: Olfactory receptor 1C1
up seq anno feature ids: PRO_0000150417
up seq anno feature ids: VAR_053118

9606:RHOB
gene id: 9606:RHOB
uniprot id: P62745
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Propeptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: (Microbial infection) O-linked (Glc) threonine; by C.difficile toxins TcdA and TcdB
up seq anno comments: ADP-ribosylasparagine; by botulinum toxin
up seq anno comments: Abolishes binding to PKN1 and trafficking of EGF receptor.
up seq anno comments: Abolishes methylation, palmitoylation and prenylation.
up seq anno comments: Cysteine methyl ester
up seq anno comments: Effector region
up seq anno comments: No effect on internalization of EGF receptor but decreases trafficking of receptor to the lysosome with associated accumulation in late endosomes.
up seq anno comments: No effect on palmitoylation or prenylation.
up seq anno comments: No effect on prenylation. Reduced palmitoylation. Abolishes palmitoylation; when associated with S-192.
up seq anno comments: O-linked (GlcNAc) tyrosine; by Photorhabdus PAU_02230
up seq anno comments: Phosphotyrosine
up seq anno comments: Reduced geranylgeranylation but no effect on farnesylation. Reduced palmitoylation. Abolishes palmitoylation; when associated with S-189.
up seq anno comments: Removed in mature form
up seq anno comments: Rho-related GTP-binding protein RhoB
up seq anno comments: S-farnesyl cysteine; in plasma membrane form
up seq anno comments: S-geranylgeranyl cysteine; in endosomal form
up seq anno comments: S-palmitoyl cysteine
up seq anno feature ids: PRO_0000030417
up seq anno feature ids: PRO_0000030418

9606:BOLA1
gene id: 9606:BOLA1
uniprot id: Q9Y3E2
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno comments: BolA-like protein 1
up seq anno comments: Disordered
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000201233
up seq anno feature ids: VAR_033630

9606:HELZ2
gene id: 9606:HELZ2
uniprot id: Q9BYK8
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type; atypical
up seq anno comments: DEAA box
up seq anno comments: Disordered
up seq anno comments: Helicase with zinc finger domain 2
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with THRAP3
up seq anno comments: LXXLL motif 1
up seq anno comments: LXXLL motif 2
up seq anno comments: LXXLL motif 3
up seq anno comments: LXXLL motif 4
up seq anno comments: LXXLL motif 5
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000058561
up seq anno feature ids: VAR_015597
up seq anno feature ids: VAR_015598
up seq anno feature ids: VAR_015599
up seq anno feature ids: VAR_015600
up seq anno feature ids: VAR_047038
up seq anno feature ids: VAR_047039
up seq anno feature ids: VAR_047040
up seq anno feature ids: VAR_047041
up seq anno feature ids: VAR_047042
up seq anno feature ids: VAR_047043
up seq anno feature ids: VSP_007297
up seq anno feature ids: VSP_007298

9606:ZSWIM3
gene id: 9606:ZSWIM3
uniprot id: Q96MP5
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: SWIM-type
up seq anno comments: Zinc finger SWIM domain-containing protein 3
up seq anno feature ids: PRO_0000223099
up seq anno feature ids: VAR_053769
up seq anno feature ids: VAR_062161

9606:DENND1A
gene id: 9606:DENND1A
uniprot id: Q8TEH3
uniprot id: Q9HCG4
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Clathrin box
up seq anno comments: DENN domain-containing protein 1A
up seq anno comments: Disordered
up seq anno comments: FXDXF motif
up seq anno comments: In isoform 2 and isoform 5.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: In isoform 4 and isoform 6.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6 and isoform 7.
up seq anno comments: In isoform 6.
up seq anno comments: In isoform 7.
up seq anno comments: Phosphomimetic mutant; abolishes the intramolecular interaction between the DENN domain and the C-terminus of the protein.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: UDENN
up seq anno comments: cDENN
up seq anno comments: dDENN
up seq anno comments: uDENN
up seq anno feature ids: PRO_0000242680
up seq anno feature ids: VSP_019464
up seq anno feature ids: VSP_019465
up seq anno feature ids: VSP_034509
up seq anno feature ids: VSP_034510
up seq anno feature ids: VSP_034511
up seq anno feature ids: VSP_034512
up seq anno feature ids: VSP_034513
up seq anno feature ids: VSP_034514
up seq anno feature ids: VSP_040666
up seq anno feature ids: VSP_040667
up seq anno feature ids: VSP_040668

9606:USP17L22
gene id: 9606:USP17L22
uniprot id: D6RA61
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Site
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno comments: Disordered
up seq anno comments: Nucleophile
up seq anno comments: Polar residues
up seq anno comments: Proton acceptor
up seq anno comments: USP
up seq anno comments: Ubiquitin carboxyl-terminal hydrolase 17-like protein 22
up seq anno feature ids: PRO_0000421096

9606:ASB9
gene id: 9606:ASB9
uniprot id: A0A024RBW7
uniprot id: Q96DX5
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: ANK
up seq anno comments: ANK 1
up seq anno comments: ANK 2
up seq anno comments: ANK 3
up seq anno comments: ANK 4
up seq anno comments: ANK 5
up seq anno comments: ANK 6
up seq anno comments: Ankyrin repeat and SOCS box protein 9
up seq anno comments: Essential for binding to CKB
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno comments: SOCS box
up seq anno feature ids: PRO_0000066940
up seq anno feature ids: VSP_000271
up seq anno feature ids: VSP_043158

9606:SLC4A8
gene id: 9606:SLC4A8
uniprot id: Q2Y0W8
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Basic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Electroneutral sodium bicarbonate exchanger 1
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2, isoform 3 and isoform 4.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 4, isoform 5, isoform 7 and isoform 8.
up seq anno comments: In isoform 6 and isoform 8.
up seq anno comments: In isoform 7.
up seq anno comments: N-linked (GlcNAc) asparagine
up seq anno comments: Significant reduction in zinc binding.
up seq anno comments: VTVLP; mediates dimerization
up seq anno feature ids: PRO_0000328922
up seq anno feature ids: VAR_048351
up seq anno feature ids: VAR_048352
up seq anno feature ids: VSP_052759
up seq anno feature ids: VSP_052760
up seq anno feature ids: VSP_052761
up seq anno feature ids: VSP_052762
up seq anno feature ids: VSP_052763
up seq anno feature ids: VSP_052764
up seq anno feature ids: VSP_052765

9606:DUSP10
gene id: 9606:DUSP10
uniprot id: Q9Y6W6
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Dual specificity protein phosphatase 10
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with MAP kinases
up seq anno comments: Phosphocysteine intermediate
up seq anno comments: Reduced enzyme activity with MAPK14.
up seq anno comments: Rhodanese
up seq anno comments: Strongly reduced affinity for MAPK14. Almost abolishes enzyme activity with MAPK14.
up seq anno comments: Tyrosine-protein phosphatase
up seq anno feature ids: PRO_0000094813
up seq anno feature ids: VSP_036549

9606:MXRA7
gene id: 9606:MXRA7
uniprot id: P84157
uniprot id: Q6ZR64
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Matrix-remodeling-associated protein 7
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000072586
up seq anno feature ids: VSP_022589
up seq anno feature ids: VSP_022590
up seq anno feature ids: VSP_024252

9606:HOMER3
gene id: 9606:HOMER3
uniprot id: Q9NSC5
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Decreases interaction with NFATC2.
up seq anno comments: Decreases interaction with NFATC2. Decreases interaction with NFATC2; when associated with N-22. Decreases interaction with NFATC2; when associated with N-22 and S-43. Markedly decreases interaction with NFATC2; when associated with T-30; S-31 and S-43. Markedly decreases interaction with NFATC2; when associated with N-22; T-30 and S-31. Impairs interaction with NFATC2; when associated with N-22; T-30, S-31 and S-43.
up seq anno comments: Disordered
up seq anno comments: Does not affect interaction with NFATC2. Decreases interaction with NFATC2; when associated with 53-L--S-56. Decreases interaction with NFATC2; when associated with S-43 and 53-L--S-56. Markedly decreases interaction with NFATC2; when associated with T-30 and S-31 and 53-L--S-56. Impairs interaction with NFATC2; when associated with T-30; S-31; S-43 and 53-L--S-56.
up seq anno comments: Does not affect interaction with NFATC2. Decreases interaction with NFATC2; when associated with N-22 and 53-L--S-56. Markedly decreases interaction with NFATC2; when associated with T-30; S-31 and 53-L--S-56. Impairs interaction with NFATC2; when associated with N-22; T-30; S-31 and 53-L--S-56.
up seq anno comments: Does not affect interaction with NFATC2; when associated with A-36 and A-38. Attenuates inhibition by AKT; when associated with A-36 and A-38.
up seq anno comments: Does not affect interaction with NFATC2; when associated with A-36 and A-52. Attenuates inhibition by AKT; when associated with A-36 and A-52.
up seq anno comments: Does not affect interaction with NFATC2; when associated with A-38 and A-52. Attenuates inhibition by AKT; when associated with A-38 and A-52.
up seq anno comments: Homer protein homolog 3
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: Markedly decreases interaction with NFATC2; when associated with S-43 and 53-L--S-56. Markedly decreases interaction with NFATC2; when associated with N-22 and 53-L--S-56. Impairs interaction with NFATC2; when associated with N-22; S-43 and 53-L--S-56.
up seq anno comments: Phosphoserine
up seq anno comments: Required for interaction with NFATC2
up seq anno comments: WH1
up seq anno feature ids: PRO_0000191011
up seq anno feature ids: VAR_017410
up seq anno feature ids: VSP_009073
up seq anno feature ids: VSP_009074
up seq anno feature ids: VSP_009075
up seq anno feature ids: VSP_009076
up seq anno feature ids: VSP_009077
up seq anno feature ids: VSP_045715

9606:USP1
gene id: 9606:USP1
uniprot id: O94782
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Site
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Cleavage; by autolysis
up seq anno comments: Disordered
up seq anno comments: Loss of autolysis-mediated degradation upon UV irradiation. No effect on catalytic activity.
up seq anno comments: Loss of catalytic activity including autolysis.
up seq anno comments: Nucleophile
up seq anno comments: Phosphoserine
up seq anno comments: Proton acceptor
up seq anno comments: Strongly reduces interaction with WDR48 and activation by WDR48.
up seq anno comments: USP
up seq anno comments: Ubiquitin carboxyl-terminal hydrolase 1
up seq anno comments: Ubiquitin carboxyl-terminal hydrolase 1, N-terminal fragment
up seq anno feature ids: PRO_0000080615
up seq anno feature ids: PRO_0000453162

9606:FTSJ3
gene id: 9606:FTSJ3
uniprot id: Q8IY81
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Abolishes RNA 2'-O-methyltransferase activity; when associated with A-117 and A-157.
up seq anno comments: Abolishes RNA 2'-O-methyltransferase activity; when associated with A-31 and A-117.
up seq anno comments: Abolishes RNA 2'-O-methyltransferase activity; when associated with A-31 and A-157.
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Citrulline
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Proton acceptor
up seq anno comments: pre-rRNA 2'-O-ribose RNA methyltransferase FTSJ3
up seq anno feature ids: PRO_0000155577
up seq anno feature ids: VAR_023284
up seq anno feature ids: VAR_023285

9606:FAM163A
gene id: 9606:FAM163A
uniprot id: Q96GL9
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: Protein FAM163A
up seq anno feature ids: PRO_0000280256

9606:JARID2
gene id: 9606:JARID2
uniprot id: Q92833
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: ARID
up seq anno comments: Abolishes nucleosome binding activity of a minimal SUZ12-RBBP4-AEBP2-JARID2 PRC2 complex.
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: GSGFP motif
up seq anno comments: In DIDDF; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: JmjC
up seq anno comments: JmjN
up seq anno comments: N6-acetyllysine
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Protein Jumonji
up seq anno comments: Sufficient for interaction with the PRC2 complex
up seq anno feature ids: PRO_0000200591
up seq anno feature ids: VAR_087870
up seq anno feature ids: VAR_087871
up seq anno feature ids: VSP_038756
up seq anno feature ids: VSP_038757
up seq anno feature ids: VSP_045041

9606:ERI1
gene id: 9606:ERI1
uniprot id: Q8IV48
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 3'-5' exoribonuclease 1
up seq anno comments: Disordered
up seq anno comments: Does not inhibit RNA-binding to the stem-loop structure.
up seq anno comments: Does not inhibit RNA-binding to the stem-loop structure. Does not inhibit RNA-binding to the stem-loop structure, when associated with A-104.
up seq anno comments: Does not inhibit RNA-binding to the stem-loop structure. Does not inhibit RNA-binding to the stem-loop structure, when associated with A-92.
up seq anno comments: Exonuclease
up seq anno comments: Inhibits 3'-end histone mRNA exonuclease activity.
up seq anno comments: Inhibits RNA-binding to the stem-loop structure and 3'-end histone mRNA exonuclease activity.
up seq anno comments: Inhibits RNA-binding to the stem-loop structure.
up seq anno comments: Phosphoserine
up seq anno comments: Proton acceptor
up seq anno comments: Reduces RNA-binding to the stem-loop structure but not 3'-end histone mRNA exonuclease activity; when associated with A-111.
up seq anno comments: Reduces RNA-binding to the stem-loop structure but not 3'-end histone mRNA exonuclease activity; when associated with A-112.
up seq anno comments: Reduces slightly RNA-binding to the stem-loop structure.
up seq anno comments: Reduces slightly RNA-binding to the stem-loop structure; when associated with A-109.
up seq anno comments: Reduces slightly RNA-binding to the stem-loop structure; when associated with A-110.
up seq anno comments: Removed
up seq anno comments: SAP
up seq anno feature ids: PRO_0000187007
up seq anno feature ids: VAR_018107

9606:LCK
gene id: 9606:LCK
uniprot id: A0A0S2Z3Y8
uniprot id: E9PJ92
uniprot id: P06239
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Mass
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Lipid Binding
up seq anno labels: Mass
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Allows interaction with SQSTM1.
up seq anno comments: Found in leukemia.
up seq anno comments: In IMD22.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform Short.
up seq anno comments: In leukemia.
up seq anno comments: Interaction with PTPRH
up seq anno comments: Interactions with CD4 and CD8
up seq anno comments: N-myristoyl glycine
up seq anno comments: No effect on interaction with SQSTM1.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Phosphotyrosine; by CSK
up seq anno comments: Phosphotyrosine; by autocatalysis
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Removed
up seq anno comments: S-palmitoyl cysteine
up seq anno comments: SH2
up seq anno comments: SH3
up seq anno comments: Tyrosine-protein kinase Lck
up seq anno feature ids: PRO_0000088124
up seq anno feature ids: VAR_013463
up seq anno feature ids: VAR_013464
up seq anno feature ids: VAR_013465
up seq anno feature ids: VAR_013466
up seq anno feature ids: VAR_051697
up seq anno feature ids: VAR_071291
up seq anno feature ids: VSP_005000
up seq anno feature ids: VSP_005001
up seq anno feature ids: VSP_016049

9606:TMEM63C
gene id: 9606:TMEM63C
uniprot id: Q9P1W3
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
up seq anno comments: Calcium permeable stress-gated cation channel 1
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In SPG87.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000280730
up seq anno feature ids: VAR_031193
up seq anno feature ids: VAR_087513

9606:ESRRB
gene id: 9606:ESRRB
uniprot id: O95718
up seq anno parent labels: Chain
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: 6-fold decrease in DNA-binding affinity.
up seq anno comments: Disordered
up seq anno comments: Essential for ESRRB transcriptional activity and interaction with NCOA3
up seq anno comments: Important for stabilizing DNA-binding
up seq anno comments: In DFNB35.
up seq anno comments: In DFNB35; uncertain pathological significance.
up seq anno comments: In isoform 1.
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with NANOG
up seq anno comments: NR C4-type
up seq anno comments: NR LBD
up seq anno comments: Nuclear receptor
up seq anno comments: Steroid hormone receptor ERR2
up seq anno feature ids: PRO_0000053662
up seq anno feature ids: VAR_043503
up seq anno feature ids: VAR_043504
up seq anno feature ids: VAR_043505
up seq anno feature ids: VAR_043506
up seq anno feature ids: VAR_043507
up seq anno feature ids: VAR_043508
up seq anno feature ids: VSP_058967
up seq anno feature ids: VSP_058968

9606:ZNF253
gene id: 9606:ZNF253
uniprot id: O75346
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: In isoform 2.
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 253
up seq anno feature ids: PRO_0000047486
up seq anno feature ids: VSP_036962

9606:CCDC78
gene id: 9606:CCDC78
uniprot id: A2IDD5
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Coiled-coil domain-containing protein 78
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3, isoform 5 and isoform 6.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000291841
up seq anno feature ids: VAR_032867
up seq anno feature ids: VSP_026252
up seq anno feature ids: VSP_026253
up seq anno feature ids: VSP_026254
up seq anno feature ids: VSP_026255
up seq anno feature ids: VSP_026256
up seq anno feature ids: VSP_026257
up seq anno feature ids: VSP_026258

9606:RAC3
gene id: 9606:RAC3
uniprot id: P60763
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Propeptide
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Cysteine methyl ester
up seq anno comments: Effector region
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: In NEDBAF.
up seq anno comments: O-linked (GlcNAc) tyrosine; by Photorhabdus PAU_02230
up seq anno comments: Ras-related C3 botulinum toxin substrate 3
up seq anno comments: Reduced FBXL19-mediated ubiquitination and subsequent degradation.
up seq anno comments: Removed in mature form
up seq anno comments: S-geranylgeranyl cysteine
up seq anno feature ids: PRO_0000198889
up seq anno feature ids: PRO_0000281240
up seq anno feature ids: VAR_083040
up seq anno feature ids: VAR_083041
up seq anno feature ids: VAR_083042
up seq anno feature ids: VAR_083245

9606:SLFNL1
gene id: 9606:SLFNL1
uniprot id: A0A140VJU6
uniprot id: Q499Z3
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Polar residues
up seq anno comments: Schlafen AlbA-2
up seq anno comments: Schlafen-like protein 1
up seq anno feature ids: PRO_0000282998
up seq anno feature ids: VAR_031459
up seq anno feature ids: VAR_031460
up seq anno feature ids: VAR_031461
up seq anno feature ids: VSP_024275
up seq anno feature ids: VSP_024276
up seq anno feature ids: VSP_024277
up seq anno feature ids: VSP_024278

9606:LRATD2
gene id: 9606:LRATD2
uniprot id: Q96KN1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno comments: Disordered
up seq anno comments: LRAT
up seq anno comments: Pro residues
up seq anno comments: Protein LRATD2
up seq anno feature ids: PRO_0000234348

9606:GARIN1B
gene id: 9606:GARIN1B
uniprot id: A0A140VJJ3
uniprot id: B4DY15
uniprot id: Q96KD3
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Golgi associated RAB2 interactor protein-like Rab2B-binding
up seq anno comments: Golgi-associated RAB2 interactor protein 1B
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno feature ids: PRO_0000311691
up seq anno feature ids: VAR_037271
up seq anno feature ids: VAR_037272
up seq anno feature ids: VSP_029580
up seq anno feature ids: VSP_055270
up seq anno feature ids: VSP_055271

9606:CMKLR1
gene id: 9606:CMKLR1
uniprot id: Q99788
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Chemerin-like receptor 1
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: In isoform B.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000069307
up seq anno feature ids: VSP_001985

9606:NDUFC1
gene id: 9606:NDUFC1
uniprot id: O43677
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Transit Peptide
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: Mitochondrion
up seq anno comments: NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial
up seq anno feature ids: PRO_0000020049

9606:AKR1A1
gene id: 9606:AKR1A1
uniprot id: P14550
uniprot id: V9HWI0
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Strand
up seq anno comments: Aldo-keto reductase family 1 member A1
up seq anno comments: Complete loss of enzymatic activity.
up seq anno comments: Lowers pKa of active site Tyr
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-succinyllysine
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: NADP-dependent oxidoreductase
up seq anno comments: No change in enzymatic activity.
up seq anno comments: Phosphoserine
up seq anno comments: Proton donor
up seq anno comments: Reduced activity towards daunorubicin.
up seq anno comments: Removed
up seq anno comments: Strong decrease in enzymatic activity.
up seq anno feature ids: PRO_0000124617
up seq anno feature ids: VAR_048212
up seq anno feature ids: VAR_058909

9606:LAP3
gene id: 9606:LAP3
uniprot id: P28838
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Cytosol aminopeptidase
up seq anno comments: In isoform 2.
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-succinyllysine
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000165825
up seq anno feature ids: VSP_022631

9606:SNX9
gene id: 9606:SNX9
uniprot id: Q9Y5X1
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes binding to phosphatidylinositol 3-phosphate, but not to phosphatidylinositol 4,5-bisphosphate; when associated with A-287.
up seq anno comments: Abolishes membrane tubulation activity. Abolishes binding to phosphatidylinositol 3-phosphate, but not to phosphatidylinositol 4,5-bisphosphate; when associated with A-313.
up seq anno comments: Abolishes membrane tubulation activity; when associated with E-522.
up seq anno comments: Abolishes membrane tubulation activity; when associated with E-528.
up seq anno comments: BAR
up seq anno comments: Critical for tubulation activity
up seq anno comments: Disordered
up seq anno comments: Loss of membrane binding.
up seq anno comments: N6-acetyllysine
up seq anno comments: PX
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: SH3
up seq anno comments: Sorting nexin-9
up seq anno comments: Strongly reduced membrane binding.
up seq anno feature ids: PRO_0000213852

9606:CERCAM
gene id: 9606:CERCAM
uniprot id: Q5T4B2
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: Exhibits some galactosyltransferase activity; when associated with D-440; M-451; Q-452 and V-453 in a chimeric construct with COLGALT1.
up seq anno comments: Exhibits some galactosyltransferase activity; when associated with D-440; R-450; M-451 and Q-452 in a chimeric construct with COLGALT1.
up seq anno comments: Exhibits some galactosyltransferase activity; when associated with D-440; R-450; M-451 and V-453 in a chimeric construct with COLGALT1.
up seq anno comments: Exhibits some galactosyltransferase activity; when associated with D-440; R-450; Q-452 and V-453 in a chimeric construct with COLGALT1.
up seq anno comments: In isoform 2.
up seq anno comments: Inactive glycosyltransferase 25 family member 3
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No effect on lack of galactosyltransferase activity in a chimeric construct with COLGALT1. Exhibits some galactosyltransferase activity; when associated with R-450; M-451; Q-452 and V-453 in a chimeric construct with COLGALT1.
up seq anno comments: Polar residues
up seq anno comments: Prevents secretion from ER
up seq anno feature ids: PRO_0000309544
up seq anno feature ids: VSP_029234

9606:TMEM184B
gene id: 9606:TMEM184B
uniprot id: Q9Y519
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: Phosphoserine
up seq anno comments: Transmembrane protein 184B
up seq anno feature ids: PRO_0000211555

9606:KCND1
gene id: 9606:KCND1
uniprot id: Q9NSA2
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: INTRAMEM
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: INTRAMEM
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Helical; Name=Segment S1
up seq anno comments: Helical; Name=Segment S2
up seq anno comments: Helical; Name=Segment S3
up seq anno comments: Helical; Name=Segment S5
up seq anno comments: Helical; Name=Segment S6
up seq anno comments: Helical; Voltage-sensor; Name=Segment S4
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with KCNIP2
up seq anno comments: Mediates dendritic targeting
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pore-forming; Name=Segment H5
up seq anno comments: Potassium voltage-gated channel subfamily D member 1
up seq anno comments: Selectivity filter
up seq anno feature ids: PRO_0000054061
up seq anno feature ids: VSP_057040

9606:HES6
gene id: 9606:HES6
uniprot id: Q96HZ4
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Orange
up seq anno comments: Transcription cofactor HES-6
up seq anno comments: WRPW motif
up seq anno comments: bHLH
up seq anno feature ids: PRO_0000127214
up seq anno feature ids: VAR_019540
up seq anno feature ids: VSP_011152
up seq anno feature ids: VSP_040128
up seq anno feature ids: VSP_055615
up seq anno feature ids: VSP_055616

9606:PLEKHF1
gene id: 9606:PLEKHF1
uniprot id: B4DWN9
uniprot id: Q96S99
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Zinc Finger
up seq anno comments: Disordered
up seq anno comments: FYVE-type
up seq anno comments: PH
up seq anno comments: Pleckstrin homology domain-containing family F member 1
up seq anno feature ids: PRO_0000251597

9606:LRRC46
gene id: 9606:LRRC46
uniprot id: Q96FV0
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno comments: Disordered
up seq anno comments: LRR 1
up seq anno comments: LRR 2
up seq anno comments: LRR 3
up seq anno comments: LRR 4
up seq anno comments: LRRCT
up seq anno comments: Leucine-rich repeat-containing protein 46
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000223919

9606:MMP28
gene id: 9606:MMP28
uniprot id: B3KV06
uniprot id: C0H5X0
uniprot id: Q9H239
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Motif
up seq anno labels: Propeptide
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Cysteine switch
up seq anno comments: Hemopexin
up seq anno comments: Hemopexin 1
up seq anno comments: Hemopexin 2
up seq anno comments: Hemopexin 3
up seq anno comments: Hemopexin 4
up seq anno comments: In isoform 2.
up seq anno comments: Matrix metalloproteinase-28
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Peptidase metallopeptidase
up seq anno comments: in inhibited form
up seq anno feature ids: PRO_0000028857
up seq anno feature ids: PRO_0000028858
up seq anno feature ids: PRO_5014085060
up seq anno feature ids: PRO_5014301620
up seq anno feature ids: VSP_040552
up seq anno feature ids: VSP_040553

9606:BAX
gene id: 9606:BAX
uniprot id: I6LPK7
uniprot id: Q07812
uniprot id: Q5ZPJ0
uniprot id: Q5ZPJ1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Apoptosis regulator BAX
up seq anno comments: BH1
up seq anno comments: BH2
up seq anno comments: BH3
up seq anno comments: Bcl-2 Bcl-2 homology region 1-3
up seq anno comments: Constitutive cytoplasmic location.
up seq anno comments: Constitutive mitochondrial location. Enhanced fiber formation with humanin.
up seq anno comments: Disordered
up seq anno comments: Enhanced fiber formation with humanin.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Helical
up seq anno comments: In a Burkitt lymphoma; loss of homodimerization.
up seq anno comments: In a T-cell acute lymphoblastic leukemia cell line; loss of heterodimerization with Bcl-2 or Bcl-X(L).
up seq anno comments: In a plasmacytoma cell line.
up seq anno comments: In isoform Beta.
up seq anno comments: In isoform Delta.
up seq anno comments: In isoform Epsilon.
up seq anno comments: In isoform Gamma.
up seq anno comments: In isoform Psi.
up seq anno comments: In isoform Sigma.
up seq anno comments: In isoform Zeta.
up seq anno comments: N-acetylmethionine
up seq anno comments: No loss of polyubiquitination.
up seq anno comments: Partial loss of polyubiquitination.
up seq anno comments: Pro residues
up seq anno comments: Reduces interaction with BCL2L11, homooligomerization and triggering of apoptosis.
up seq anno comments: Strongly reduced interaction with MCL1, BCL2, BCL2L1 and BCL2L2. No effect on cytochrome c release and subsequent apoptosis triggered by etoposide.
up seq anno feature ids: PRO_0000143053
up seq anno feature ids: VAR_007809
up seq anno feature ids: VAR_013575
up seq anno feature ids: VAR_013576
up seq anno feature ids: VAR_047053
up seq anno feature ids: VSP_031234
up seq anno feature ids: VSP_031235
up seq anno feature ids: VSP_031236
up seq anno feature ids: VSP_031237
up seq anno feature ids: VSP_031238
up seq anno feature ids: VSP_031239
up seq anno feature ids: VSP_031240
up seq anno feature ids: VSP_037475

9606:LAMTOR3
gene id: 9606:LAMTOR3
uniprot id: Q9UHA4
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: In M5 mutant; impaired association with Rag GTPases.
up seq anno comments: In isoform 2.
up seq anno comments: Ragulator complex protein LAMTOR3
up seq anno comments: Required for interaction with LAMTOR2
up seq anno feature ids: PRO_0000221005
up seq anno feature ids: VSP_046372

9606:OLA1
gene id: 9606:OLA1
uniprot id: Q9NTK5
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of ATP-binding.
up seq anno comments: N6-acetyllysine
up seq anno comments: Nuclear export signal
up seq anno comments: OBG-type G
up seq anno comments: Obg-like ATPase 1
up seq anno comments: Retention of ATP-binding specificity.
up seq anno comments: TGS
up seq anno feature ids: PRO_0000122456
up seq anno feature ids: VAR_036613
up seq anno feature ids: VSP_002049
up seq anno feature ids: VSP_002050
up seq anno feature ids: VSP_002051

9606:SLC30A8
gene id: 9606:SLC30A8
uniprot id: Q8IWU4
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Decreased transport reaction kinetics; decreased affinity for zinc ions; decreased zinc ion import into organelle; no effect on protein abundance.
up seq anno comments: Decreased zinc ion transmembrane transport.
up seq anno comments: Decreased zinc ion transmembrane transport; when associated with A-106.
up seq anno comments: Decreased zinc ion transmembrane transport; when associated with A-137.
up seq anno comments: Decreased zinc ion transmembrane transport; when associated with A-220.
up seq anno comments: Decreased zinc ion transmembrane transport; when associated with A-345.
up seq anno comments: Disordered
up seq anno comments: HCH Motif; seals regulatory zinc-binding pocket
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Loss of transported zinc binding and decreased zinc ion transmembrane transport; when associated with N-110.
up seq anno comments: Loss of transported zinc binding and decreased zinc ion transmembrane transport; when associated with N-224.
up seq anno comments: Lumenal, vesicle
up seq anno comments: Proton-coupled zinc antiporter SLC30A8
up seq anno comments: in chain A
up seq anno comments: in chain B
up seq anno feature ids: PRO_0000281740
up seq anno feature ids: VAR_031258
up seq anno feature ids: VAR_031259
up seq anno feature ids: VSP_024025

9606:SLC7A9
gene id: 9606:SLC7A9
uniprot id: P82251
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Abolishes amino acid transport activity.
up seq anno comments: Basic and acidic residues
up seq anno comments: Complete loss of amino acid transport activity.
up seq anno comments: Cytoplasmic
up seq anno comments: Decreased amino acid transport activity.
up seq anno comments: Disordered
up seq anno comments: Does not affect amino acid transport activity.
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In CSNU.
up seq anno comments: In CSNU; complete loss of amino acid transport activity.
up seq anno comments: In CSNU; decreased amino acid transport activity.
up seq anno comments: In CSNU; impairs protein stability and dimer formation.
up seq anno comments: In CSNU; non-classic type I.
up seq anno comments: In CSNU; partial loss of amino acid transport activity.
up seq anno comments: In CSNU; severe loss of amino acid transport activity.
up seq anno comments: In CSNU; severe loss of amino acid transport activity; no effect on localization to the apical membrane.
up seq anno comments: In CSNU; type I.
up seq anno comments: In CSNU; type III.
up seq anno comments: In CSNU; type III; decreased amino acid transport activity.
up seq anno comments: In CSNU; type III; impairs protein stability and dimer formation.
up seq anno comments: In CSNU; type III; partial loss of amino acid transport activity.
up seq anno comments: In CSNU; type III; severe loss of amino acid transport activity.
up seq anno comments: In CSNU; types I and III.
up seq anno comments: In CSNU; unknown pathological significance.
up seq anno comments: Interchain (with C-114 in SLC3A1)
up seq anno comments: Loss of amino acid transport activity.
up seq anno comments: Markedly reduces amino acid transport activity.
up seq anno comments: No effect on amino acid transport activity.
up seq anno comments: Phosphoserine
up seq anno comments: Reduces amino acid transport activity.
up seq anno comments: Slightly decreased amino acid transport activity.
up seq anno comments: b(0,+)-type amino acid transporter 1
up seq anno feature ids: PRO_0000054258
up seq anno feature ids: VAR_010256
up seq anno feature ids: VAR_010257
up seq anno feature ids: VAR_010258
up seq anno feature ids: VAR_010259
up seq anno feature ids: VAR_010260
up seq anno feature ids: VAR_014363
up seq anno feature ids: VAR_014364
up seq anno feature ids: VAR_014365
up seq anno feature ids: VAR_015885
up seq anno feature ids: VAR_018997

9606:ISG20
gene id: 9606:ISG20
uniprot id: H0YMM4
uniprot id: Q96AZ6
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Exonuclease
up seq anno comments: In isoform 2.
up seq anno comments: Interferon-stimulated gene 20 kDa protein
up seq anno feature ids: PRO_0000084243
up seq anno feature ids: VSP_012429
up seq anno feature ids: VSP_012430

9606:ENPP2
gene id: 9606:ENPP2
uniprot id: E7EUF1
uniprot id: Q13822
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Cell attachment site
up seq anno comments: Disordered
up seq anno comments: Ectonucleotide pyrophosphatase/phosphodiesterase family member 2
up seq anno comments: Essential for catalytic activity
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of ability to hydrolyze sphingosylphosphorylcholine.
up seq anno comments: Loss of lysophospholipase activity and ability to hydrolyze sphingosylphosphorylcholine.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Nucleophile
up seq anno comments: Reduces lysophospholipase activity by about 50%.
up seq anno comments: Reduces lysophospholipase activity by about 70%.
up seq anno comments: Removed by furin
up seq anno comments: Required for secretion
up seq anno comments: SMB
up seq anno comments: SMB 1
up seq anno comments: SMB 2
up seq anno comments: Strongly reduced lysophospholipase activity.
up seq anno feature ids: PRO_0000188567
up seq anno feature ids: PRO_0000281649
up seq anno feature ids: VAR_057472
up seq anno feature ids: VAR_057473
up seq anno feature ids: VAR_060469
up seq anno feature ids: VSP_006750
up seq anno feature ids: VSP_036398

9606:STK10
gene id: 9606:STK10
uniprot id: O94804
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Activation segment
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In TGCT; somatic mutation.
up seq anno comments: Loss of kinase activity.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Serine/threonine-protein kinase 10
up seq anno feature ids: PRO_0000086697
up seq anno feature ids: VAR_023827
up seq anno feature ids: VAR_041131
up seq anno feature ids: VAR_041132
up seq anno feature ids: VAR_041133
up seq anno feature ids: VAR_041134
up seq anno feature ids: VAR_041135
up seq anno feature ids: VAR_041136
up seq anno feature ids: VAR_041137
up seq anno feature ids: VAR_041138
up seq anno feature ids: VAR_051671
up seq anno feature ids: VAR_051672
up seq anno feature ids: VAR_051673

9606:CFAP74
gene id: 9606:CFAP74
uniprot id: A0A804HLA9
uniprot id: Q9C0B2
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Cilia- and flagella-associated protein 74
up seq anno comments: Disordered
up seq anno comments: In CILD49; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno feature ids: PRO_0000324664
up seq anno feature ids: VAR_039873
up seq anno feature ids: VAR_039874
up seq anno feature ids: VAR_039875
up seq anno feature ids: VAR_088022
up seq anno feature ids: VAR_088023
up seq anno feature ids: VAR_088024
up seq anno feature ids: VAR_088025
up seq anno feature ids: VSP_032345
up seq anno feature ids: VSP_057369
up seq anno feature ids: VSP_057370

9606:PRSS3
gene id: 9606:PRSS3
uniprot id: P35030
uniprot id: Q7Z5F4
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Propeptide
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Activation peptide
up seq anno comments: Charge relay system
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: Loss of catalytic activity.
up seq anno comments: Peptidase S1
up seq anno comments: Required for specificity
up seq anno comments: Sulfotyrosine
up seq anno comments: Trypsin-3
up seq anno feature ids: PRO_0000028201
up seq anno feature ids: PRO_0000028202
up seq anno feature ids: VAR_046794
up seq anno feature ids: VAR_046795
up seq anno feature ids: VAR_059788
up seq anno feature ids: VAR_067459
up seq anno feature ids: VSP_005409
up seq anno feature ids: VSP_005410
up seq anno feature ids: VSP_042074
up seq anno feature ids: VSP_053779

9606:ROBO3
gene id: 9606:ROBO3
uniprot id: Q96MS0
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Fibronectin type-III 1
up seq anno comments: Fibronectin type-III 2
up seq anno comments: Fibronectin type-III 3
up seq anno comments: Helical
up seq anno comments: Ig-like C2-type 1
up seq anno comments: Ig-like C2-type 2
up seq anno comments: Ig-like C2-type 3
up seq anno comments: Ig-like C2-type 4
up seq anno comments: Ig-like C2-type 5
up seq anno comments: In HGPPS1.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Roundabout homolog 3
up seq anno feature ids: PRO_0000031038
up seq anno feature ids: VAR_019073
up seq anno feature ids: VAR_019074
up seq anno feature ids: VAR_019075
up seq anno feature ids: VAR_019119
up seq anno feature ids: VAR_019120
up seq anno feature ids: VAR_019121
up seq anno feature ids: VAR_034474
up seq anno feature ids: VAR_034475
up seq anno feature ids: VAR_053642
up seq anno feature ids: VAR_062145
up seq anno feature ids: VSP_010650
up seq anno feature ids: VSP_010651

9606:VSX1
gene id: 9606:VSX1
uniprot id: Q9NZR4
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: CVC
up seq anno comments: Disordered
up seq anno comments: Homeobox
up seq anno comments: In CAASDS.
up seq anno comments: In KTCN1.
up seq anno comments: In KTCN1; sporadic.
up seq anno comments: In KTCN1; unknown pathological significance.
up seq anno comments: In KTCN1; unknown pathological significance; also in a patient with retinal dysfunction.
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: In isoform 7.
up seq anno comments: In isoform 8.
up seq anno comments: Nuclear localization signal
up seq anno comments: Octapeptide motif
up seq anno comments: Polar residues
up seq anno comments: Visual system homeobox 1
up seq anno feature ids: PRO_0000049355
up seq anno feature ids: VAR_014243
up seq anno feature ids: VAR_014244
up seq anno feature ids: VAR_014245
up seq anno feature ids: VAR_014246
up seq anno feature ids: VAR_014247
up seq anno feature ids: VAR_014248
up seq anno feature ids: VAR_063100
up seq anno feature ids: VAR_066670
up seq anno feature ids: VAR_066671
up seq anno feature ids: VAR_066672
up seq anno feature ids: VAR_076692
up seq anno feature ids: VSP_002299
up seq anno feature ids: VSP_002300
up seq anno feature ids: VSP_002301
up seq anno feature ids: VSP_002302
up seq anno feature ids: VSP_002303
up seq anno feature ids: VSP_039140
up seq anno feature ids: VSP_039141
up seq anno feature ids: VSP_039142
up seq anno feature ids: VSP_039143
up seq anno feature ids: VSP_039144
up seq anno feature ids: VSP_039145
up seq anno feature ids: VSP_039146
up seq anno feature ids: VSP_039147

9606:CLDN20
gene id: 9606:CLDN20
uniprot id: A0A140VKA2
uniprot id: P56880
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Claudin
up seq anno comments: Claudin-20
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000144784
up seq anno feature ids: PRO_5014247035

9606:AAMP
gene id: 9606:AAMP
uniprot id: C9JEH3
uniprot id: Q13685
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno comments: Acidic residues
up seq anno comments: Angio-associated migratory cell protein
up seq anno comments: Disordered
up seq anno comments: Phosphoserine
up seq anno comments: WD
up seq anno comments: WD 1
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno comments: WD 7
up seq anno comments: WD 8
up seq anno feature ids: PRO_0000050832
up seq anno feature ids: VAR_037061

9606:WDR45
gene id: 9606:WDR45
uniprot id: Q9Y484
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Decreased interaction with ATG2A. Loss of interaction with ATG2A; when associated with A-15.
up seq anno comments: Decreased interaction with ATG2A. Loss of interaction with ATG2A; when associated with A-17.
up seq anno comments: In NBIA5.
up seq anno comments: In NBIA5; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: L/FRRG motif
up seq anno comments: Loss of interaction with AMPK. No effect on interaction with ATG2A.
up seq anno comments: No effect on interaction with ATG2A.
up seq anno comments: WD 1
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno comments: WD 7
up seq anno comments: WD repeat domain phosphoinositide-interacting protein 4
up seq anno feature ids: PRO_0000051452
up seq anno feature ids: VAR_078645
up seq anno feature ids: VAR_080430
up seq anno feature ids: VSP_016975
up seq anno feature ids: VSP_016976

9606:ZNF697
gene id: 9606:ZNF697
uniprot id: Q5TEC3
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Zinc finger protein 697
up seq anno feature ids: PRO_0000305138
up seq anno feature ids: VAR_078436

9606:NUTM2B
gene id: 9606:NUTM2B
uniprot id: A6NNL0
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: NUT family member 2B
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000337992
up seq anno feature ids: VSP_034025
up seq anno feature ids: VSP_034026
up seq anno feature ids: VSP_034027

9606:KIAA0232
gene id: 9606:KIAA0232
uniprot id: A5YKK5
uniprot id: Q92628
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Uncharacterized protein KIAA0232
up seq anno feature ids: PRO_0000050738

9606:MTSS1
gene id: 9606:MTSS1
uniprot id: A5YM41
uniprot id: O43312
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: IMD
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Protein MTSS 1
up seq anno comments: WH2
up seq anno feature ids: PRO_0000096639
up seq anno feature ids: VAR_054010
up seq anno feature ids: VAR_054011
up seq anno feature ids: VSP_007420
up seq anno feature ids: VSP_007421
up seq anno feature ids: VSP_016216
up seq anno feature ids: VSP_054702

9606:TMEM235
gene id: 9606:TMEM235
uniprot id: A6NFC5
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Transmembrane protein 235
up seq anno feature ids: PRO_0000406902
up seq anno feature ids: VSP_040887
up seq anno feature ids: VSP_040888

9606:DCHS2
gene id: 9606:DCHS2
uniprot id: A0A0A0MRC0
uniprot id: Q6V1P8
uniprot id: Q6V1P9
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Cadherin
up seq anno comments: Cadherin 1
up seq anno comments: Cadherin 10
up seq anno comments: Cadherin 11
up seq anno comments: Cadherin 12
up seq anno comments: Cadherin 13
up seq anno comments: Cadherin 14
up seq anno comments: Cadherin 15
up seq anno comments: Cadherin 16
up seq anno comments: Cadherin 17
up seq anno comments: Cadherin 18
up seq anno comments: Cadherin 19
up seq anno comments: Cadherin 2
up seq anno comments: Cadherin 20
up seq anno comments: Cadherin 21
up seq anno comments: Cadherin 22
up seq anno comments: Cadherin 23
up seq anno comments: Cadherin 24
up seq anno comments: Cadherin 25
up seq anno comments: Cadherin 26
up seq anno comments: Cadherin 27
up seq anno comments: Cadherin 3
up seq anno comments: Cadherin 4
up seq anno comments: Cadherin 5
up seq anno comments: Cadherin 6
up seq anno comments: Cadherin 7
up seq anno comments: Cadherin 8
up seq anno comments: Cadherin 9
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: Protocadherin-23
up seq anno feature ids: PRO_0000343410
up seq anno feature ids: VSP_060650
up seq anno feature ids: VSP_060651

9606:OR1G1
gene id: 9606:OR1G1
uniprot id: A0A126GW57
uniprot id: P47890
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 1G1
up seq anno feature ids: PRO_0000150434
up seq anno feature ids: VAR_053122

9606:POMZP3
gene id: 9606:POMZP3
uniprot id: Q6PJE2
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: POM121 and ZP3 fusion protein
up seq anno feature ids: PRO_0000204909
up seq anno feature ids: VAR_056721
up seq anno feature ids: VSP_046257

9606:POMC
gene id: 9606:POMC
uniprot id: P01189
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Peptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Peptide
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno comments: Basic and acidic residues
up seq anno comments: Beta-endorphin
up seq anno comments: Corticotropin
up seq anno comments: Corticotropin-like intermediary peptide
up seq anno comments: Disordered
up seq anno comments: Glutamic acid 1-amide
up seq anno comments: Lipotropin beta
up seq anno comments: Lipotropin gamma
up seq anno comments: May confer susceptibility to obesity; reduces the ability to activate melanocortin receptor 4.
up seq anno comments: Melanocyte-stimulating hormone alpha
up seq anno comments: Melanocyte-stimulating hormone beta
up seq anno comments: Melanotropin gamma
up seq anno comments: Met-enkephalin
up seq anno comments: N-acetylserine; in Corticotropin
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: NPP
up seq anno comments: O-linked (HexNAc...) threonine
up seq anno comments: Phenylalanine amide
up seq anno comments: Phosphoserine
up seq anno comments: Potential peptide
up seq anno comments: Valine amide
up seq anno feature ids: PRO_0000024966
up seq anno feature ids: PRO_0000024967
up seq anno feature ids: PRO_0000024968
up seq anno feature ids: PRO_0000024969
up seq anno feature ids: PRO_0000024970
up seq anno feature ids: PRO_0000024971
up seq anno feature ids: PRO_0000024972
up seq anno feature ids: PRO_0000024973
up seq anno feature ids: PRO_0000024974
up seq anno feature ids: PRO_0000024975
up seq anno feature ids: PRO_0000024976
up seq anno feature ids: VAR_010699
up seq anno feature ids: VAR_010700
up seq anno feature ids: VAR_010701
up seq anno feature ids: VAR_010714
up seq anno feature ids: VAR_010715
up seq anno feature ids: VAR_010716
up seq anno feature ids: VAR_012201
up seq anno feature ids: VAR_029314
up seq anno feature ids: VAR_029762

9606:TBC1D24
gene id: 9606:TBC1D24
uniprot id: Q9ULP9
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: In DEE16.
up seq anno comments: In DEE16; loss of function mutation; impairs the interaction with ARF6; overexpression of the mutant protein in primary cortical neurons abolishes the ability to increase neurite length and arborization.
up seq anno comments: In DFNA65.
up seq anno comments: In DFNB86.
up seq anno comments: In DOORS.
up seq anno comments: In DOORS; unknown pathological significance.
up seq anno comments: In EPRPDC.
up seq anno comments: In EPRPDC; results in synaptic vesicle trafficking defects when expressed in a heterologous system; does not affect localization to presynapse when expressed in a heterologous system.
up seq anno comments: In EPRPDC; unknown pathological significance.
up seq anno comments: In FIME; does not affect the interaction with ARF6; fails to induce neurite overgrowth when overexpressed in primary cortical neurons.
up seq anno comments: In FIME; fails to induce neurite overgrowth when overexpressed in primary cortical neurons.
up seq anno comments: In FIME; significantly impairs the interaction with ARF6; partially induces neurite overgrowth when overexpressed in primary cortical neurons.
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Rab-GAP TBC
up seq anno comments: TBC1 domain family member 24
up seq anno comments: TLDc
up seq anno feature ids: PRO_0000288504
up seq anno feature ids: VAR_064365
up seq anno feature ids: VAR_064366
up seq anno feature ids: VAR_064367
up seq anno feature ids: VAR_070102
up seq anno feature ids: VAR_070890
up seq anno feature ids: VAR_070912
up seq anno feature ids: VAR_070913
up seq anno feature ids: VAR_070914
up seq anno feature ids: VAR_070915
up seq anno feature ids: VAR_070916
up seq anno feature ids: VAR_070994
up seq anno feature ids: VAR_070995
up seq anno feature ids: VAR_072107
up seq anno feature ids: VAR_078184
up seq anno feature ids: VAR_078185
up seq anno feature ids: VAR_083253
up seq anno feature ids: VAR_083254
up seq anno feature ids: VAR_083255
up seq anno feature ids: VAR_083256
up seq anno feature ids: VAR_083257
up seq anno feature ids: VAR_083258
up seq anno feature ids: VSP_025701

9606:UMAD1
gene id: 9606:UMAD1
uniprot id: C9J7I0
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Polar residues
up seq anno comments: UBAP1-MVB12-associated (UMA)-domain containing protein 1
up seq anno comments: UMA
up seq anno feature ids: PRO_0000431388

9606:ARL14EPL
gene id: 9606:ARL14EPL
uniprot id: P0DKL9
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Region
up seq anno comments: ARL14 effector protein-like
up seq anno comments: Disordered
up seq anno feature ids: PRO_0000419646

9606:NFIA
gene id: 9606:NFIA
uniprot id: Q12857
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: 9aaTAD
up seq anno comments: Asymmetric dimethylarginine
up seq anno comments: CTF/NF-I
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Nuclear factor 1 A-type
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000100191
up seq anno feature ids: VSP_036620
up seq anno feature ids: VSP_046883
up seq anno feature ids: VSP_046884

9606:MACROD1
gene id: 9606:MACROD1
uniprot id: Q9BQ69
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Site
up seq anno labels: Strand
up seq anno comments: ADP-ribose glycohydrolase MACROD1
up seq anno comments: Breakpoint for translocation to form RUNX1-MACROD1
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Loss of enzyme activity.
up seq anno comments: Macro
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-succinyllysine
up seq anno comments: No significant effect on enzyme activity.
up seq anno comments: Reduced enzyme activity.
up seq anno comments: Reduced enzyme activity. No significant effect on affinity for substrate.
up seq anno comments: Slightly reduced ADP-ribosyl hydrolase activity; when associated with A-174. Reduces O-acetyl-ADP-ribose deacetylase activity by 93%; when associated with A-174. No significant effect on affinity for substrate.
up seq anno comments: Slightly reduced ADP-ribosyl hydrolase activity; when associated with A-184. Reduces O-acetyl-ADP-ribose deacetylase activity by 93%; when associated with A-184. No significant effect on affinity for substrate.
up seq anno feature ids: PRO_0000084485

9606:CA2
gene id: 9606:CA2
uniprot id: P00918
uniprot id: V9HW21
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 2-fold decrease in enzyme efficiency, as determined by kcat/KM ratio, and efficiently inhibited by chlorzolamide; when associated with Q-67.
up seq anno comments: 2-fold decrease in enzyme efficiency, as determined by kcat/KM ratio, and efficiently inhibited by chlorzolamide; when associated with S-65.
up seq anno comments: Alpha-carbonic anhydrase
up seq anno comments: Carbonic anhydrase 2
up seq anno comments: Enhanced activity.
up seq anno comments: Enhanced p-nitrophenyl acetate esterase activity, but normal CO(2) hydrase activity.
up seq anno comments: Enhanced proton transfer; when associated with A-64.
up seq anno comments: Fine-tunes the proton-transfer properties of H-64
up seq anno comments: Fine-tunes the proton-transfer properties of H-64; involved in the binding of some activators, including histamine and L-histidine
up seq anno comments: Higher affinity for bicarbonate. Enhanced proton transfer capacity; when associated with A-64.
up seq anno comments: Impaired activity, not rescued by 4-methylimidazole (4-MI).
up seq anno comments: Impaired activity, not rescued by 4-methylimidazole (4-MI); when associated with W-64.
up seq anno comments: Impaired activity, rescued by 4-methylimidazole (4-MI). Impaired activity, not rescued by 4-methylimidazole (4-MI); when associated with A-5.
up seq anno comments: Impaired activity.
up seq anno comments: In Jogjakarta.
up seq anno comments: In Melbourne.
up seq anno comments: In OPTB3.
up seq anno comments: In OPTB3; complete loss of activity.
up seq anno comments: In OPTB3; in Czechoslovakia.
up seq anno comments: In OPTB3; partial loss of activity.
up seq anno comments: Involved in the binding of some activators, including histamine and L-histidine
up seq anno comments: N-acetylserine
up seq anno comments: Normal CO(2) hydrase activity, but impaired stability.
up seq anno comments: Normal CO(2) hydrase activity.
up seq anno comments: Normal activity.
up seq anno comments: Phosphoserine
up seq anno comments: Proton donor/acceptor
up seq anno comments: Reduced CO(2) hydrase activity, rescued by 4-methylimidazole (4-MI). Reduced proton transfer; when associated with H-62. Enhanced proton transfer; when associated with H-67. Enhanced proton transfer capacity; when associated with H-99.
up seq anno comments: Reduced CO(2) hydrase activity.
up seq anno comments: Reduced CO(2) hydrase and p-nitrophenyl acetate esterase activities.
up seq anno comments: Reduced activity.
up seq anno comments: Reduced proton transfer rate.
up seq anno comments: Reduced proton transfer; when associated with A-64.
up seq anno comments: Removed
up seq anno comments: Strongly impaired activity.
up seq anno comments: Strongly reduced CO(2) hydrase activity.
up seq anno comments: Strongly reduced CO(2) hydrase and p-nitrophenyl acetate esterase activities, impaired stability of zinc binding.
up seq anno comments: Strongly reduced CO(2) hydrase and p-nitrophenyl acetate esterase activities.
up seq anno comments: Strongly reduced activity and sulfonamide affinity.
up seq anno comments: Strongly reduced activity, but enhanced zinc affinity.
up seq anno comments: Strongly reduced activity.
up seq anno comments: Weakly impaired activity.
up seq anno feature ids: PRO_0000077418
up seq anno feature ids: VAR_001380
up seq anno feature ids: VAR_001381

9606:GLB1L2
gene id: 9606:GLB1L2
uniprot id: Q8IW92
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno comments: Beta-galactosidase-1-like protein 2
up seq anno comments: Nucleophile
up seq anno comments: Proton donor
up seq anno feature ids: PRO_0000317513

9606:TPBG
gene id: 9606:TPBG
uniprot id: Q13641
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Repeat
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Impaired trafficking to the cell surface.
up seq anno comments: LRR 1
up seq anno comments: LRR 2
up seq anno comments: LRR 3
up seq anno comments: LRR 4
up seq anno comments: LRR 5
up seq anno comments: LRR 6
up seq anno comments: LRR 7
up seq anno comments: LRRCT
up seq anno comments: LRRNT
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Reduces Wnt inhibitory function.
up seq anno comments: Strongly reduces Wnt inhibitory function.
up seq anno comments: Trophoblast glycoprotein
up seq anno feature ids: PRO_0000019591

9606:KEL
gene id: 9606:KEL
uniprot id: A0A077QP03
uniprot id: P23276
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In KEL1/K antigen.
up seq anno comments: In KEL10/Ul(a) antigen.
up seq anno comments: In KEL12 antigen.
up seq anno comments: In KEL17 antigen.
up seq anno comments: In KEL19 antigen.
up seq anno comments: In KEL21/Kp(c) antigen.
up seq anno comments: In KEL22 antigen.
up seq anno comments: In KEL23 antigen.
up seq anno comments: In KEL24 antigen.
up seq anno comments: In KEL25 antigen.
up seq anno comments: In KEL26 antigen.
up seq anno comments: In KEL27 antigen.
up seq anno comments: In KEL3/Kp(a) antigen.
up seq anno comments: In KEL6/Js(a) antigen.
up seq anno comments: Interchain (with C-347 in XK)
up seq anno comments: Kell blood group glycoprotein
up seq anno comments: Loss of Kell-XK complex.
up seq anno comments: Loss of catalytic activity.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: N-linked (GlcNAc...) asparagine; in KEL2 antigen
up seq anno comments: No loss of Kell-XK complex.
up seq anno comments: Peptidase M13
up seq anno comments: Peptidase M13 C-terminal
up seq anno comments: Peptidase M13 N-terminal
up seq anno comments: Phosphoserine
up seq anno comments: Proton donor
up seq anno feature ids: PRO_0000078227
up seq anno feature ids: VAR_006731
up seq anno feature ids: VAR_006732
up seq anno feature ids: VAR_006733
up seq anno feature ids: VAR_006734
up seq anno feature ids: VAR_006735
up seq anno feature ids: VAR_006736
up seq anno feature ids: VAR_006737
up seq anno feature ids: VAR_015120
up seq anno feature ids: VAR_015121
up seq anno feature ids: VAR_015122
up seq anno feature ids: VAR_015123
up seq anno feature ids: VAR_015124
up seq anno feature ids: VAR_015125

9606:SLC37A4
gene id: 9606:SLC37A4
uniprot id: A8K0S7
uniprot id: B4DUH2
uniprot id: O43826
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Glucose-6-phosphate exchanger SLC37A4
up seq anno comments: Helical
up seq anno comments: In CDG2W; affects the endoplasmic reticulum subcellular location, relocalizing the protein either to the Golgi apparatus, or to a distinct, non-Golgi compartment, possibly endoplasmic reticulum exit sites; when transfected into HepG2 cells, significantly changes the protein glycosylation pattern, such as that of transferrin; does not affect glucose-6-phosphate transport activity.
up seq anno comments: In GSD1B.
up seq anno comments: In GSD1B; inactive glucose-6-phosphate transport.
up seq anno comments: In GSD1C.
up seq anno comments: In isoform 2.
up seq anno comments: Major facilitator superfamily (MFS) profile
up seq anno feature ids: PRO_0000199891
up seq anno feature ids: VAR_003184
up seq anno feature ids: VAR_003185
up seq anno feature ids: VAR_007850
up seq anno feature ids: VAR_012356
up seq anno feature ids: VAR_016840
up seq anno feature ids: VAR_025581
up seq anno feature ids: VAR_025582
up seq anno feature ids: VAR_025583
up seq anno feature ids: VAR_025584
up seq anno feature ids: VAR_025585
up seq anno feature ids: VAR_025586
up seq anno feature ids: VAR_025587
up seq anno feature ids: VAR_025588
up seq anno feature ids: VAR_025589
up seq anno feature ids: VAR_025590
up seq anno feature ids: VAR_025591
up seq anno feature ids: VAR_025592
up seq anno feature ids: VAR_025593
up seq anno feature ids: VAR_025594
up seq anno feature ids: VAR_025595
up seq anno feature ids: VAR_025596
up seq anno feature ids: VAR_025597
up seq anno feature ids: VAR_025598
up seq anno feature ids: VAR_025599
up seq anno feature ids: VAR_025600
up seq anno feature ids: VAR_025601
up seq anno feature ids: VAR_025602
up seq anno feature ids: VAR_025603
up seq anno feature ids: VAR_025604
up seq anno feature ids: VAR_032113
up seq anno feature ids: VAR_066394
up seq anno feature ids: VAR_066395
up seq anno feature ids: VAR_066396
up seq anno feature ids: VAR_066397
up seq anno feature ids: VAR_086301
up seq anno feature ids: VSP_006171

9606:PLS3
gene id: 9606:PLS3
uniprot id: B4DPW9
uniprot id: P13797
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Actin-binding 1
up seq anno comments: Actin-binding 2
up seq anno comments: Calponin-homology (CH)
up seq anno comments: Calponin-homology (CH) 1
up seq anno comments: Calponin-homology (CH) 2
up seq anno comments: Calponin-homology (CH) 3
up seq anno comments: Calponin-homology (CH) 4
up seq anno comments: EF-hand
up seq anno comments: EF-hand 1
up seq anno comments: EF-hand 2
up seq anno comments: In OSTEOP; associated with disease susceptibility.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Plastin-3
up seq anno feature ids: PRO_0000073747
up seq anno feature ids: VAR_035462
up seq anno feature ids: VAR_070278
up seq anno feature ids: VSP_056235
up seq anno feature ids: VSP_056236
up seq anno feature ids: VSP_056237

9606:TMEM174
gene id: 9606:TMEM174
uniprot id: Q8WUU8
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Transmembrane protein 174
up seq anno feature ids: PRO_0000282577
up seq anno feature ids: VSP_024210

9606:SDHB
gene id: 9606:SDHB
uniprot id: P21912
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: 2Fe-2S ferredoxin-type
up seq anno comments: 4Fe-4S ferredoxin-type
up seq anno comments: Found in a patient with a Cowden-like phenotype; unknown pathological significance; associated with increased manganese superoxide dismutase expression and normal levels of reactive oxygen species; associated with a 1.2-fold increase in AKT expression and 1.3-fold change in MAPK expression.
up seq anno comments: Found in a patient with a Cowden-like phenotype; unknown pathological significance; associated with increased manganese superoxide dismutase function and increased levels of reactive oxygen species; associated with a 2.7-fold change in AKT expression and a 1.7-fold increase in MAPK expression.
up seq anno comments: In MC2DN4.
up seq anno comments: In MC2DN4; decreased succinate dehydrogenase (ubiquinone) activity in homozygous patient cells; decreased protein levels in homozygous patient cells.
up seq anno comments: In MC2DN4; decreased succinate dehydrogenase (ubiquinone) activity; decreased protein levels in homozygous patient cells.
up seq anno comments: In MC2DN4; unknown pathological significance.
up seq anno comments: In PCC and PGL4.
up seq anno comments: In PCC.
up seq anno comments: In PCC; absence of expression in tumor cells indicating complete loss of SDHB function.
up seq anno comments: In PGL4 and PCC.
up seq anno comments: In PGL4.
up seq anno comments: Interaction with SDHAF1
up seq anno comments: Mitochondrion
up seq anno comments: N6-acetyllysine
up seq anno comments: Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial
up seq anno feature ids: PRO_0000010355
up seq anno feature ids: VAR_017868
up seq anno feature ids: VAR_017869
up seq anno feature ids: VAR_018517
up seq anno feature ids: VAR_018518
up seq anno feature ids: VAR_035063
up seq anno feature ids: VAR_035064
up seq anno feature ids: VAR_035065
up seq anno feature ids: VAR_035066
up seq anno feature ids: VAR_035067
up seq anno feature ids: VAR_037620
up seq anno feature ids: VAR_037621
up seq anno feature ids: VAR_054374
up seq anno feature ids: VAR_054375
up seq anno feature ids: VAR_054376
up seq anno feature ids: VAR_054377
up seq anno feature ids: VAR_054378
up seq anno feature ids: VAR_054379
up seq anno feature ids: VAR_054380
up seq anno feature ids: VAR_054381
up seq anno feature ids: VAR_054382
up seq anno feature ids: VAR_054383
up seq anno feature ids: VAR_085398
up seq anno feature ids: VAR_085399
up seq anno feature ids: VAR_085400
up seq anno feature ids: VAR_085401
up seq anno feature ids: VAR_085402

9606:C2CD2
gene id: 9606:C2CD2
uniprot id: Q9Y426
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: C2
up seq anno comments: C2 domain-containing protein 2
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: SMP-LBD
up seq anno feature ids: PRO_0000045386
up seq anno feature ids: VAR_050928
up seq anno feature ids: VAR_050929
up seq anno feature ids: VSP_041071
up seq anno feature ids: VSP_041072

9606:EPHB3
gene id: 9606:EPHB3
uniprot id: P54753
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: Eph LBD
up seq anno comments: Ephrin type-B receptor 3
up seq anno comments: Extracellular
up seq anno comments: Fibronectin type-III 1
up seq anno comments: Fibronectin type-III 2
up seq anno comments: Helical
up seq anno comments: In a lung neuroendocrine carcinoma sample; somatic mutation.
up seq anno comments: In a lung small cell carcinoma sample; somatic mutation.
up seq anno comments: Kinase-dead. Loss of autophosphorylation.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: PDZ-binding
up seq anno comments: Partial loss of phosphorylation and loss of interaction with SH2-containing proteins.
up seq anno comments: Phosphotyrosine; by autocatalysis
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: SAM
up seq anno feature ids: PRO_0000016831
up seq anno feature ids: VAR_042176
up seq anno feature ids: VAR_042177
up seq anno feature ids: VAR_042178
up seq anno feature ids: VAR_042179
up seq anno feature ids: VAR_042180

9606:PYROXD1
gene id: 9606:PYROXD1
uniprot id: Q8WU10
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In MFM8; also found in a patient with limb-girdle muscular dystrophy; decreased function in cellular response to oxidative stress; no effect on subcellular location in the nucleus and sarcomere. Overexpression in C2C12 cells leads to reduced cell proliferation, migration and differentiation..
up seq anno comments: In MFM8; decreased function in cellular response to oxidative stress; no effect on subcellular location at nucleus and sarcomere.
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylmethionine
up seq anno comments: Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1
up seq anno feature ids: PRO_0000327419
up seq anno feature ids: VAR_077902
up seq anno feature ids: VAR_077903
up seq anno feature ids: VSP_055828

9606:DNAI7
gene id: 9606:DNAI7
uniprot id: B4E376
uniprot id: Q6TDU7
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: CASC1 C-terminal
up seq anno comments: Dynein axonemal intermediate chain 7
up seq anno comments: IC97/Casc1 N-terminal
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno feature ids: PRO_0000332731
up seq anno feature ids: VAR_043008
up seq anno feature ids: VAR_062232
up seq anno feature ids: VSP_033380
up seq anno feature ids: VSP_033381
up seq anno feature ids: VSP_033382
up seq anno feature ids: VSP_033383
up seq anno feature ids: VSP_046917

9606:ZC2HC1B
gene id: 9606:ZC2HC1B
uniprot id: Q5TFG8
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2HC/C3H-type 1
up seq anno comments: C2HC/C3H-type 2; degenerate
up seq anno comments: Disordered
up seq anno comments: Polar residues
up seq anno comments: Zinc finger C2HC domain-containing protein 1B
up seq anno feature ids: PRO_0000280252
up seq anno feature ids: VAR_053853

9606:MARCHF9
gene id: 9606:MARCHF9
uniprot id: Q86YJ5
uniprot id: Q8N9T1
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: Diminishes ability to promote MHC-I internalization.
up seq anno comments: Disordered
up seq anno comments: E3 ubiquitin-protein ligase MARCHF9
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: RING-CH-type
up seq anno feature ids: PRO_0000274282
up seq anno feature ids: VAR_030246
up seq anno feature ids: VAR_030247
up seq anno feature ids: VSP_022697

9606:FZD1
gene id: 9606:FZD1
uniprot id: Q9UP38
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: FZ
up seq anno comments: Frizzled-1
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: Lys-Thr-X-X-X-Trp motif, mediates interaction with the PDZ domain of Dvl family members
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: PDZ-binding
up seq anno feature ids: PRO_0000012973
up seq anno feature ids: VAR_049290

9606:RAB28
gene id: 9606:RAB28
uniprot id: P51157
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Propeptide
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Cysteine methyl ester
up seq anno comments: Effector region
up seq anno comments: In isoform 3.
up seq anno comments: In isoform L.
up seq anno comments: N-acetylserine
up seq anno comments: Phosphoserine
up seq anno comments: Ras-related protein Rab-28
up seq anno comments: Removed
up seq anno comments: Removed in mature form
up seq anno comments: S-farnesyl cysteine
up seq anno feature ids: PRO_0000121227
up seq anno feature ids: PRO_0000396721
up seq anno feature ids: VSP_005530
up seq anno feature ids: VSP_045807

9606:KRT73
gene id: 9606:KRT73
uniprot id: Q86Y46
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno comments: Coil 1A
up seq anno comments: Coil 1B
up seq anno comments: Coil 2
up seq anno comments: Disordered
up seq anno comments: Head
up seq anno comments: IF rod
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Keratin, type II cytoskeletal 73
up seq anno comments: Linker 1
up seq anno comments: Linker 12
up seq anno comments: Polar residues
up seq anno comments: Stutter
up seq anno comments: Tail
up seq anno feature ids: PRO_0000314881
up seq anno feature ids: VAR_038091
up seq anno feature ids: VAR_038092
up seq anno feature ids: VAR_038093
up seq anno feature ids: VAR_038094
up seq anno feature ids: VAR_038095
up seq anno feature ids: VSP_030417
up seq anno feature ids: VSP_030418

9606:NKX2-5
gene id: 9606:NKX2-5
uniprot id: A0A0S2Z383
uniprot id: E5RH49
uniprot id: P52952
up seq anno parent labels: Chain
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Found in patients with isolated congenital asplenia; unknown pathological significance; does not affect DNA binding; impairs transactivation activity.
up seq anno comments: Homeobox
up seq anno comments: Homeobox protein Nkx-2.5
up seq anno comments: In ASD7 and TOF.
up seq anno comments: In ASD7 and TOF; somatic mutation.
up seq anno comments: In ASD7, TOF, CHNG5, HLHS2 and CTHM; unknown pathological significance; exhibits significant functional impairment with reduction of transactivation properties and dominant-negative effect; the mutant protein activity on the DIO2, TG and TPO promoters is significantly impaired.
up seq anno comments: In ASD7.
up seq anno comments: In ASD7; somatic mutation.
up seq anno comments: In CHNG5; exhibits a significant functional impairment with reduction of transactivation properties and dominant-negative effect which was associated with reduced DNA binding.
up seq anno comments: In CTMH.
up seq anno comments: In TOF and ASD7.
up seq anno comments: In VSD3.
up seq anno comments: In VSD3; significantly reduced activation of NPPA gene compared to wild-type.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno feature ids: PRO_0000048937
up seq anno feature ids: VAR_003752
up seq anno feature ids: VAR_010116
up seq anno feature ids: VAR_010117
up seq anno feature ids: VAR_010118
up seq anno feature ids: VAR_010119
up seq anno feature ids: VAR_038212
up seq anno feature ids: VAR_038213
up seq anno feature ids: VAR_038214
up seq anno feature ids: VAR_038215
up seq anno feature ids: VAR_038216
up seq anno feature ids: VAR_038217
up seq anno feature ids: VAR_038218
up seq anno feature ids: VAR_038219
up seq anno feature ids: VAR_038220
up seq anno feature ids: VAR_038221
up seq anno feature ids: VAR_038222
up seq anno feature ids: VAR_038223
up seq anno feature ids: VAR_038224
up seq anno feature ids: VAR_038225
up seq anno feature ids: VAR_038226
up seq anno feature ids: VAR_038227
up seq anno feature ids: VAR_038228
up seq anno feature ids: VAR_038229
up seq anno feature ids: VAR_038230
up seq anno feature ids: VAR_038231
up seq anno feature ids: VAR_038232
up seq anno feature ids: VAR_038233
up seq anno feature ids: VAR_038234
up seq anno feature ids: VAR_038235
up seq anno feature ids: VAR_038236
up seq anno feature ids: VAR_038237
up seq anno feature ids: VAR_038238
up seq anno feature ids: VAR_038239
up seq anno feature ids: VAR_038240
up seq anno feature ids: VAR_038241
up seq anno feature ids: VAR_038242
up seq anno feature ids: VAR_038243
up seq anno feature ids: VAR_038244
up seq anno feature ids: VAR_038245
up seq anno feature ids: VAR_038246
up seq anno feature ids: VAR_038247

9606:KIF18A
gene id: 9606:KIF18A
uniprot id: Q8NI77
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Kinesin motor
up seq anno comments: Kinesin-like protein KIF18A
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000125458
up seq anno feature ids: VAR_038354
up seq anno feature ids: VAR_049701
up seq anno feature ids: VAR_049702

9606:OR4K14
gene id: 9606:OR4K14
uniprot id: A0A126GVP2
uniprot id: Q8NGD5
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 4K14
up seq anno feature ids: PRO_0000150557
up seq anno feature ids: VAR_053173
up seq anno feature ids: VAR_053174

9606:KRTAP9-1
gene id: 9606:KRTAP9-1
uniprot id: A8MXZ3
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno comments: 1
up seq anno comments: 10
up seq anno comments: 11
up seq anno comments: 12
up seq anno comments: 13
up seq anno comments: 14
up seq anno comments: 15
up seq anno comments: 16
up seq anno comments: 17
up seq anno comments: 18
up seq anno comments: 19
up seq anno comments: 2
up seq anno comments: 20
up seq anno comments: 21
up seq anno comments: 22
up seq anno comments: 23
up seq anno comments: 24
up seq anno comments: 25
up seq anno comments: 26
up seq anno comments: 27
up seq anno comments: 28
up seq anno comments: 29
up seq anno comments: 3
up seq anno comments: 30
up seq anno comments: 31
up seq anno comments: 32
up seq anno comments: 32 X 5 AA repeats of C-C-[CGSVRQH]-[SQTNP]-[PTSI]
up seq anno comments: 4
up seq anno comments: 5
up seq anno comments: 6
up seq anno comments: 7
up seq anno comments: 8
up seq anno comments: 9
up seq anno comments: Keratin-associated protein 9-1
up seq anno feature ids: PRO_0000332261

9606:FAM120B
gene id: 9606:FAM120B
uniprot id: A0A0D9SEJ5
uniprot id: B4DG54
uniprot id: B4DSS4
uniprot id: F5GY05
uniprot id: Q96EK7
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Constitutive coactivator of peroxisome proliferator-activated receptor gamma
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000332990
up seq anno feature ids: VAR_043021
up seq anno feature ids: VAR_043022
up seq anno feature ids: VAR_043023
up seq anno feature ids: VAR_043024
up seq anno feature ids: VAR_043025
up seq anno feature ids: VAR_043026
up seq anno feature ids: VAR_043027
up seq anno feature ids: VAR_043028
up seq anno feature ids: VSP_033415
up seq anno feature ids: VSP_033416
up seq anno feature ids: VSP_055267

9606:CLEC5A
gene id: 9606:CLEC5A
uniprot id: A4D1U7
uniprot id: Q14DL9
uniprot id: Q9NY25
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Abolishes interaction with TYROBP.
up seq anno comments: C-type lectin
up seq anno comments: C-type lectin domain family 5 member A
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000046632
up seq anno feature ids: VAR_050110
up seq anno feature ids: VSP_012839

9606:AGXT2
gene id: 9606:AGXT2
uniprot id: Q9BYV1
up seq anno parent labels: Chain
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transit Peptide
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transit Peptide
up seq anno comments: Alanine--glyoxylate aminotransferase 2, mitochondrial
up seq anno comments: Associated with an increased risk for coronary heart disease (CHD) in smoker and diabetic mellitus (DM) patients in a Chinese population; higher plasma symmetric (SDMA) dimethylarginine as well as plasma and urinary beta-aminoisobutyrate (BAIB) concentrations; localized to the mitochondrion as the wild-type; reduces alanine-glyoxylate aminotransferase activity.
up seq anno comments: Higher plasma and urinary beta-aminoisobutyrate (BAIB) concentrations.
up seq anno comments: In isoform 2.
up seq anno comments: Mitochondrion
up seq anno comments: N6-(pyridoxal phosphate)lysine
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-succinyllysine
up seq anno comments: N6-succinyllysine; alternate
up seq anno feature ids: PRO_0000001269
up seq anno feature ids: VAR_022140
up seq anno feature ids: VAR_022141
up seq anno feature ids: VAR_023483
up seq anno feature ids: VAR_029513
up seq anno feature ids: VAR_048231
up seq anno feature ids: VAR_048232
up seq anno feature ids: VAR_061006
up seq anno feature ids: VAR_061007
up seq anno feature ids: VSP_055802

9606:RUFY2
gene id: 9606:RUFY2
uniprot id: Q5GIA6
uniprot id: Q8WXA3
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Domain Extent
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: FYVE-type
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: RUN
up seq anno comments: RUN and FYVE domain-containing protein 2
up seq anno feature ids: PRO_0000245830
up seq anno feature ids: VAR_060318
up seq anno feature ids: VSP_059505
up seq anno feature ids: VSP_059506
up seq anno feature ids: VSP_059507
up seq anno feature ids: VSP_059508
up seq anno feature ids: VSP_059509
up seq anno feature ids: VSP_059510

9606:SLC16A2
gene id: 9606:SLC16A2
uniprot id: P36021
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Does not affect localization to the cell membrane. Abolishes T3 uptake activity.
up seq anno comments: Does not alter kinetic characteristics of thyroid hormone (TH) transport.
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=10
up seq anno comments: Helical; Name=11
up seq anno comments: Helical; Name=12
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: Helical; Name=8
up seq anno comments: Helical; Name=9
up seq anno comments: In MCT8 deficiency.
up seq anno comments: In MCT8 deficiency; atypical form; characterized by developmental delay hypotonia and delayed myelination.
up seq anno comments: In MCT8 deficiency; decreased thyroid hormone transport; decreased protein abundance; decreased localization to the plasma membrane.
up seq anno comments: In MCT8 deficiency; does not affect homodimerization activity.
up seq anno comments: In MCT8 deficiency; does not affect homodimerization activity; impaired thyroid hormone transporter activity; impaired localization to the cell membrane.
up seq anno comments: In MCT8 deficiency; impaired homodimerization.
up seq anno comments: In MCT8 deficiency; impaired thyroid hormone transporter activity; does not affect localization to the cell membrane.
up seq anno comments: In MCT8 deficiency; impaired thyroid hormone transporter activity; impaired localization to the cell membrane.
up seq anno comments: In MCT8 deficiency; increased homodimerization activity.
up seq anno comments: In MCT8 deficiency; loss of thyroid hormone transport.
up seq anno comments: In MCT8 deficiency; results in a mild clinical phenotype; retains some residual thyroid hormone transporter activity.
up seq anno comments: Monocarboxylate transporter 8
up seq anno comments: N-acetylalanine
up seq anno comments: No effect on thyroid hormone (TH) transport.
up seq anno comments: No effect on thyroid hormone transport. No effect on protein abundance. No effect on protein localization to the plasma membrane.
up seq anno comments: Pro residues
up seq anno comments: Reduction of thyroid hormone (TH) transport.
up seq anno comments: Removed
up seq anno feature ids: PRO_0000211401
up seq anno feature ids: VAR_022348
up seq anno feature ids: VAR_022349
up seq anno feature ids: VAR_022350
up seq anno feature ids: VAR_057723
up seq anno feature ids: VAR_059054
up seq anno feature ids: VAR_059055
up seq anno feature ids: VAR_059056
up seq anno feature ids: VAR_059057
up seq anno feature ids: VAR_059058
up seq anno feature ids: VAR_059059
up seq anno feature ids: VAR_059060
up seq anno feature ids: VAR_074572
up seq anno feature ids: VAR_074573
up seq anno feature ids: VAR_074574
up seq anno feature ids: VAR_074575
up seq anno feature ids: VAR_074576
up seq anno feature ids: VAR_074577
up seq anno feature ids: VAR_074578
up seq anno feature ids: VAR_074579

9606:OR6C70
gene id: 9606:OR6C70
uniprot id: A6NIJ9
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 6C70
up seq anno feature ids: PRO_0000309493
up seq anno feature ids: VAR_036971
up seq anno feature ids: VAR_062050

9606:PCDHGB5
gene id: 9606:PCDHGB5
uniprot id: Q9Y5G0
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cadherin 1
up seq anno comments: Cadherin 2
up seq anno comments: Cadherin 3
up seq anno comments: Cadherin 4
up seq anno comments: Cadherin 5
up seq anno comments: Cadherin 6
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Protocadherin gamma-B5
up seq anno feature ids: PRO_0000003979
up seq anno feature ids: VAR_048571
up seq anno feature ids: VSP_008692
up seq anno feature ids: VSP_008693

9606:ZNF736
gene id: 9606:ZNF736
uniprot id: B4DX44
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 1; degenerate
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 736
up seq anno feature ids: PRO_0000395343

9606:PIGO
gene id: 9606:PIGO
uniprot id: Q8TEQ8
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Found in patients with severe infantile epileptic encephalopathy; unknown pathological significance.
up seq anno comments: GPI ethanolamine phosphate transferase 3
up seq anno comments: Helical
up seq anno comments: In HPMRS2.
up seq anno comments: In HPMRS2; decrease in mannose-ethanolamine phosphotransferase activity.
up seq anno comments: In HPMRS2; decrease in mannose-ethanolamine phosphotransferase activity; decreased protein expression.
up seq anno comments: In HPMRS2; decrease in mannose-ethanolamine phosphotransferase activity; decreased protein expression; unknown pathological significance.
up seq anno comments: In HPMRS2; decrease in mannose-ethanolamine phosphotransferase activity; increased protein expression.
up seq anno comments: In HPMRS2; unknown pathological significance.
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Probable disease-associated variant found in a patient with epileptic encephalopathy; decrease in mannose-ethanolamine phosphotransferase activity; decreased protein expression.
up seq anno feature ids: PRO_0000058438
up seq anno feature ids: VAR_036332
up seq anno feature ids: VAR_068809
up seq anno feature ids: VAR_071074
up seq anno feature ids: VAR_079410
up seq anno feature ids: VAR_079411
up seq anno feature ids: VAR_079412
up seq anno feature ids: VAR_079413
up seq anno feature ids: VAR_079414
up seq anno feature ids: VAR_079415
up seq anno feature ids: VAR_079416
up seq anno feature ids: VSP_003944

9606:TGS1
gene id: 9606:TGS1
uniprot id: Q96RS0
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Decreases catalytic activity to 11 percent of wild type.
up seq anno comments: Decreases catalytic activity to 13 percent of wild type.
up seq anno comments: Decreases catalytic activity to 26 percent of wild type.
up seq anno comments: Decreases catalytic activity to 4 percent of wild type.
up seq anno comments: Decreases catalytic activity to 5 percent of wild type.
up seq anno comments: Decreases catalytic activity to 6 percent of wild type.
up seq anno comments: Disordered
up seq anno comments: Loss of catalytic activity.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: Sufficient for catalytic activity
up seq anno comments: Trimethylguanosine synthase
up seq anno feature ids: PRO_0000204468
up seq anno feature ids: VAR_024734
up seq anno feature ids: VAR_024735
up seq anno feature ids: VAR_024736
up seq anno feature ids: VAR_024737
up seq anno feature ids: VAR_024738
up seq anno feature ids: VAR_056241
up seq anno feature ids: VAR_056242

9606:DDI1
gene id: 9606:DDI1
uniprot id: Q8WTU0
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Polar residues
up seq anno comments: Protein DDI1 homolog 1
up seq anno comments: Ubiquitin-like
up seq anno feature ids: PRO_0000287086
up seq anno feature ids: VAR_032259
up seq anno feature ids: VAR_032260
up seq anno feature ids: VAR_032261

9606:VRK3
gene id: 9606:VRK3
uniprot id: Q8IV63
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Inactive serine/threonine-protein kinase VRK3
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Protein kinase
up seq anno feature ids: PRO_0000086808
up seq anno feature ids: VAR_041295
up seq anno feature ids: VAR_041296
up seq anno feature ids: VAR_041297
up seq anno feature ids: VAR_041298
up seq anno feature ids: VAR_041299
up seq anno feature ids: VAR_041300
up seq anno feature ids: VAR_041301
up seq anno feature ids: VAR_051682
up seq anno feature ids: VAR_051683
up seq anno feature ids: VAR_051684
up seq anno feature ids: VSP_008544
up seq anno feature ids: VSP_008545
up seq anno feature ids: VSP_043409

9606:ATXN1
gene id: 9606:ATXN1
uniprot id: P54253
uniprot id: Q96FF1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: AXH
up seq anno comments: Ataxin-1
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
up seq anno comments: Interaction with USP7
up seq anno comments: No effect on sumoylation.
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: RNA-binding
up seq anno comments: Reduces phosphorylation but does not affect nuclear localization.
up seq anno comments: Self-association
up seq anno comments: Sumoylation reduced to 40% of wild-type.
up seq anno comments: Sumoylation reduced to 42% of wild-type.
up seq anno comments: Sumoylation reduced to 43% of wild-type.
up seq anno comments: Sumoylation reduced to 44% of wild-type.
up seq anno comments: Sumoylation reduced to 46% of wild-type.
up seq anno comments: Sumoylation reduced to 53% of wild-type.
up seq anno comments: Sumoylation reduced to 57% of wild-type.
up seq anno comments: Sumoylation reduced to 62% of wild-type.
up seq anno comments: Sumoylation reduced to 68% of wild-type.
up seq anno feature ids: PRO_0000064751
up seq anno feature ids: VAR_046616
up seq anno feature ids: VAR_046617

9606:PGA5
gene id: 9606:PGA5
uniprot id: P0DJD9
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Propeptide
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno comments: Activation peptide
up seq anno comments: Pepsin A-5
up seq anno comments: Peptidase A1
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000415759
up seq anno feature ids: PRO_0000415760

9606:PEX13
gene id: 9606:PEX13
uniprot id: Q92968
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In PBD11B.
up seq anno comments: In PBD11B; neonatal adrenoleukodystrophy.
up seq anno comments: Interaction with PEX19
up seq anno comments: Peroxisomal matrix
up seq anno comments: Peroxisomal membrane protein PEX13
up seq anno comments: Phosphoserine
up seq anno comments: Pro residues
up seq anno comments: SH3
up seq anno comments: Targeting to peroxisomes
up seq anno feature ids: PRO_0000058323
up seq anno feature ids: VAR_009306
up seq anno feature ids: VAR_087140

9606:MEA1
gene id: 9606:MEA1
uniprot id: A0A2R8Y7W8
uniprot id: Q16626
up seq anno parent labels: Chain
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: Male-enhanced antigen 1
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000096341
up seq anno feature ids: VAR_058297

9606:GPRC5C
gene id: 9606:GPRC5C
uniprot id: A0A0C4DFY5
uniprot id: Q9BSP0
uniprot id: Q9NQ84
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptor family C group 5 member C
up seq anno comments: G-protein coupled receptors family 3 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000012967
up seq anno feature ids: PRO_5014312658
up seq anno feature ids: VSP_037725

9606:RDM1
gene id: 9606:RDM1
uniprot id: Q8NG50
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Does not affect its subcellular distribution.
up seq anno comments: In isoform 10 and isoform 11.
up seq anno comments: In isoform 12.
up seq anno comments: In isoform 2, isoform 4, isoform 6, isoform 9 and isoform 11.
up seq anno comments: In isoform 3, isoform 4 and isoform 7.
up seq anno comments: In isoform 3, isoform 4, isoform 7, isoform 8 and isoform 9.
up seq anno comments: In isoform 5 and isoform 6.
up seq anno comments: In isoform 7.
up seq anno comments: In isoform 8 and isoform 9.
up seq anno comments: Necessary for nuclear and nucleolar localization
up seq anno comments: Necessary for nuclear localization and for nucleolar accumulation in response to heat shock
up seq anno comments: RAD52 motif-containing protein 1
up seq anno comments: RRM
up seq anno comments: Reduces its nuclear and nucleolar accumulation. Increases its cytoplasmic accumulation.
up seq anno feature ids: PRO_0000299528
up seq anno feature ids: VAR_034835
up seq anno feature ids: VAR_034836
up seq anno feature ids: VSP_029648
up seq anno feature ids: VSP_029649
up seq anno feature ids: VSP_029650
up seq anno feature ids: VSP_029653
up seq anno feature ids: VSP_029654
up seq anno feature ids: VSP_029655
up seq anno feature ids: VSP_037151
up seq anno feature ids: VSP_044856

9606:SLC30A2
gene id: 9606:SLC30A2
uniprot id: Q9BRI3
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Decreased phosphorylation. Increased localization to lysosome.
up seq anno comments: Helical
up seq anno comments: In TNZD; decreased protein abundance; increased protein aggregation; no dominant negative effect.
up seq anno comments: In TNZD; decreased zinc ion import into organelle; dominant negative effect; changed protein localization; retained in endoplasmic reticulum and Golgi; dominant negative effect; results in decreased zinc secretion in milk.
up seq anno comments: In isoform 2.
up seq anno comments: Increased homodimerization activity.
up seq anno comments: Loss of interaction with AP3D1. Loss of localization to lysosome.
up seq anno comments: Loss of localization to lysosome.
up seq anno comments: Loss of localization to mitochondrial inner membrane. Loss of function in zinc ion import into mitochondrion.
up seq anno comments: Lumenal
up seq anno comments: Lysosomal targeting motif
up seq anno comments: Mitochondrial localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Proton-coupled zinc antiporter SLC30A2
up seq anno comments: in chain A
up seq anno comments: in chain B
up seq anno feature ids: PRO_0000206094
up seq anno feature ids: VAR_069309
up seq anno feature ids: VAR_069310
up seq anno feature ids: VSP_061729

9606:CDC42BPG
gene id: 9606:CDC42BPG
uniprot id: Q6DT37
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Zinc Finger
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: AGC-kinase C-terminal
up seq anno comments: Basic and acidic residues
up seq anno comments: CNH
up seq anno comments: CRIB
up seq anno comments: Disordered
up seq anno comments: In a glioblastoma multiforme sample; somatic mutation.
up seq anno comments: PH
up seq anno comments: Phorbol-ester/DAG-type
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by autocatalysis
up seq anno comments: Phosphothreonine; by autocatalysis
up seq anno comments: Polar residues
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Serine/threonine-protein kinase MRCK gamma
up seq anno feature ids: PRO_0000086397
up seq anno feature ids: VAR_040840
up seq anno feature ids: VAR_040841
up seq anno feature ids: VAR_040842
up seq anno feature ids: VAR_040843
up seq anno feature ids: VAR_057105

9606:TEX12
gene id: 9606:TEX12
uniprot id: Q9BXU0
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Region
up seq anno comments: Disordered
up seq anno comments: Polar residues
up seq anno comments: Testis-expressed protein 12
up seq anno feature ids: PRO_0000072493

9606:ST6GALNAC5
gene id: 9606:ST6GALNAC5
uniprot id: B4DV27
uniprot id: Q9BVH7
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000149280
up seq anno feature ids: PRO_5002803328

9606:TRA2B
gene id: 9606:TRA2B
uniprot id: P62995
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Asymmetric dimethylarginine; alternate
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Dimethylated arginine; alternate
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Linker
up seq anno comments: N-acetylserine
up seq anno comments: Omega-N-methylarginine; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: RRM
up seq anno comments: Removed
up seq anno comments: Transformer-2 protein homolog beta
up seq anno feature ids: PRO_0000081983
up seq anno feature ids: VSP_005896
up seq anno feature ids: VSP_005898
up seq anno feature ids: VSP_005899

9606:NDOR1
gene id: 9606:NDOR1
uniprot id: Q9UHB4
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: FAD-binding FR-type
up seq anno comments: Flavodoxin-like
up seq anno comments: In allele NDOR1*1; shows a decrease in affinity for NADPH and a reduction in ferricyanide reductase activity.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: NADPH-dependent diflavin oxidoreductase 1
up seq anno feature ids: PRO_0000319539
up seq anno feature ids: VAR_039010
up seq anno feature ids: VSP_031487
up seq anno feature ids: VSP_046313
up seq anno feature ids: VSP_046314
up seq anno feature ids: VSP_053807

9606:CROCC
gene id: 9606:CROCC
uniprot id: Q5TZA2
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Rootletin
up seq anno feature ids: PRO_0000239943
up seq anno feature ids: VAR_059628
up seq anno feature ids: VAR_059629
up seq anno feature ids: VAR_059630
up seq anno feature ids: VAR_061626
up seq anno feature ids: VAR_061627
up seq anno feature ids: VAR_083473
up seq anno feature ids: VAR_083474
up seq anno feature ids: VSP_052069
up seq anno feature ids: VSP_052070

9606:SEMA3A
gene id: 9606:SEMA3A
uniprot id: Q14563
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Found in a renal cell carcinoma sample; somatic mutation.
up seq anno comments: Ig-like C2-type
up seq anno comments: In HH16; phenotype consistent with Kallmann syndrome.
up seq anno comments: In HH16; phenotype consistent with Kallmann syndrome; digenic; found in a patient also carrying mutation Asp-217 in KAL1.
up seq anno comments: In HH16; phenotype consistent with Kallmann syndrome; digenic; found in a patient also carrying mutation Cys-268 in PROKR2.
up seq anno comments: In HH16; phenotype consistent with Kallmann syndrome; digenic; found in patients also carrying mutation Cys-268 in PROKR2 or mutation Arg-687 in FGFR1.
up seq anno comments: In HH16; unknown pathological significance.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Sema
up seq anno comments: Semaphorin-3A
up seq anno feature ids: PRO_0000032303
up seq anno feature ids: VAR_036283
up seq anno feature ids: VAR_064749
up seq anno feature ids: VAR_069200
up seq anno feature ids: VAR_069201
up seq anno feature ids: VAR_069202
up seq anno feature ids: VAR_069203
up seq anno feature ids: VAR_069204
up seq anno feature ids: VAR_069205
up seq anno feature ids: VAR_069206
up seq anno feature ids: VAR_072986
up seq anno feature ids: VAR_072987
up seq anno feature ids: VAR_072988
up seq anno feature ids: VAR_072989
up seq anno feature ids: VAR_072990

9606:HOOK1
gene id: 9606:HOOK1
uniprot id: Q9UJC3
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Abrogates interaction with AKTIP, VPS16, VPS18, VPS39 and VPS41, AP4M1, FHIP1B, decreases interaction with HOOK2 but does not affect interaction withHOOK3; when associated with 661-A-A-662.
up seq anno comments: Abrogates interaction with AKTIP, VPS16, VPS18, VPS39 and VPS41, AP4M1, FHIP1B, decreases interaction with HOOK2 but does not affect interaction withHOOK3; when associated with 669-A-A-670.
up seq anno comments: Calponin-homology (CH)
up seq anno comments: Disordered
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Protein Hook homolog 1
up seq anno comments: Sufficient for homodimerization, interaction wit HOOK2, HOOK3 and AP4M1
up seq anno comments: Sufficient for interaction with AKTIP and VPS18
up seq anno comments: Sufficient for interaction with microtubules
up seq anno feature ids: PRO_0000219192
up seq anno feature ids: VAR_035709
up seq anno feature ids: VAR_077930
up seq anno feature ids: VSP_056226

9606:CC2D2A
gene id: 9606:CC2D2A
uniprot id: Q9P2K1
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: C2
up seq anno comments: Coiled-coil and C2 domain-containing protein 2A
up seq anno comments: Disordered
up seq anno comments: In COACH2 and JBTS9.
up seq anno comments: In JBTS9 and COACH2.
up seq anno comments: In JBTS9.
up seq anno comments: In JBTS9; benign variant.
up seq anno comments: In JBTS9; digenic inheritance; the patient also carries mutation C-360 in CEP41.
up seq anno comments: In JBTS9; unknown pathological significance.
up seq anno comments: In MKS6 and JBTS9.
up seq anno comments: In MKS6; unknown pathological significance.
up seq anno comments: In RP93.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno feature ids: PRO_0000317250
up seq anno feature ids: VAR_038489
up seq anno feature ids: VAR_038490
up seq anno feature ids: VAR_055321
up seq anno feature ids: VAR_055322
up seq anno feature ids: VAR_055323
up seq anno feature ids: VAR_055324
up seq anno feature ids: VAR_062293
up seq anno feature ids: VAR_062804
up seq anno feature ids: VAR_062805
up seq anno feature ids: VAR_062806
up seq anno feature ids: VAR_063804
up seq anno feature ids: VAR_067535
up seq anno feature ids: VAR_068169
up seq anno feature ids: VAR_069045
up seq anno feature ids: VAR_069046
up seq anno feature ids: VAR_075698
up seq anno feature ids: VAR_076881
up seq anno feature ids: VAR_076882
up seq anno feature ids: VAR_076883
up seq anno feature ids: VAR_076884
up seq anno feature ids: VAR_076885
up seq anno feature ids: VAR_076886
up seq anno feature ids: VAR_076887
up seq anno feature ids: VAR_076888
up seq anno feature ids: VAR_076889
up seq anno feature ids: VAR_076890
up seq anno feature ids: VAR_076891
up seq anno feature ids: VAR_077560
up seq anno feature ids: VAR_087118
up seq anno feature ids: VAR_087303
up seq anno feature ids: VAR_087304
up seq anno feature ids: VSP_030923
up seq anno feature ids: VSP_037223
up seq anno feature ids: VSP_045255
up seq anno feature ids: VSP_045256
up seq anno feature ids: VSP_045453
up seq anno feature ids: VSP_045454

9606:TBC1D14
gene id: 9606:TBC1D14
uniprot id: B9A071
uniprot id: F5GXK4
uniprot id: Q9P2M4
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Loss of inhibition of autophagosome formation; when associated with A-472.
up seq anno comments: Loss of inhibition of autophagosome formation; when associated with A-508.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Rab-GAP TBC
up seq anno comments: TBC1 domain family member 14
up seq anno feature ids: PRO_0000208040
up seq anno feature ids: VAR_059856
up seq anno feature ids: VAR_067442
up seq anno feature ids: VSP_041460
up seq anno feature ids: VSP_041461

9606:SPRR4
gene id: 9606:SPRR4
uniprot id: Q96PI1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: Polar residues
up seq anno comments: Small proline-rich protein 4
up seq anno feature ids: PRO_0000150006
up seq anno feature ids: VAR_034517

9606:GPC3
gene id: 9606:GPC3
uniprot id: B4DTD8
uniprot id: I6QTG3
uniprot id: P51654
uniprot id: Q53H15
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Propeptide
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Propeptide
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno comments: Abolishes proteolytic processing. Abolishes interaction with WNT5A and ability to regulate Wnt signaling. Increases binding of hedgehog protein SHH to the PTC1 receptor and abolishes ability to inhibit hedgehog signaling.
up seq anno comments: Cleavage
up seq anno comments: GPI-anchor amidated asparagine
up seq anno comments: Glypican-3 alpha subunit
up seq anno comments: Glypican-3 beta subunit
up seq anno comments: In SGBS1.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Interchain (between alpha and beta chains)
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No effect on proteolytic processing.
up seq anno comments: O-linked (Xyl...) (glycosaminoglycan) serine
up seq anno comments: Phosphoserine; by FAM20C
up seq anno comments: Pyrrolidone carboxylic acid
up seq anno comments: Removed in mature form
up seq anno feature ids: PRO_0000012310
up seq anno feature ids: PRO_0000445410
up seq anno feature ids: PRO_0000445411
up seq anno feature ids: PRO_5010125021
up seq anno feature ids: PRO_5010139063
up seq anno feature ids: PRO_5040102061
up seq anno feature ids: VAR_021385
up seq anno feature ids: VAR_069139
up seq anno feature ids: VSP_046117
up seq anno feature ids: VSP_046703

9606:HOXA4
gene id: 9606:HOXA4
uniprot id: Q00056
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Antp-type hexapeptide
up seq anno comments: Disordered
up seq anno comments: Homeobox
up seq anno comments: Homeobox protein Hox-A4
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000200048
up seq anno feature ids: VAR_028414
up seq anno feature ids: VAR_028415
up seq anno feature ids: VAR_028416
up seq anno feature ids: VAR_028417
up seq anno feature ids: VAR_028418
up seq anno feature ids: VAR_036266

9606:ACTL10
gene id: 9606:ACTL10
uniprot id: Q5JWF8
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno comments: Actin-like protein 10
up seq anno feature ids: PRO_0000232865

9606:CCT4
gene id: 9606:CCT4
uniprot id: P50991
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: N6-acetyllysine
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno comments: T-complex protein 1 subunit delta
up seq anno feature ids: PRO_0000128332
up seq anno feature ids: VAR_052266
up seq anno feature ids: VSP_045537

9606:ECHDC1
gene id: 9606:ECHDC1
uniprot id: Q9NTX5
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Ethylmalonyl-CoA decarboxylase
up seq anno comments: In isoform 2, isoform 5 and isoform 6.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: In isoform 4 and isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-succinyllysine
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: Removed
up seq anno feature ids: PRO_0000273246
up seq anno feature ids: VSP_022498
up seq anno feature ids: VSP_042581
up seq anno feature ids: VSP_042582
up seq anno feature ids: VSP_042583

9606:PCM1
gene id: 9606:PCM1
uniprot id: A2RUU9
uniprot id: B9EIS5
uniprot id: Q15154
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Breakpoint for translocation to form PCM1-JAK2 fusion protein
up seq anno comments: Breakpoint for translocation to form PCM1-RET fusion protein
up seq anno comments: Disordered
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: Interaction with BBS4
up seq anno comments: Interaction with HAP1
up seq anno comments: Mediates interaction with DZIP1
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: Pericentriolar material 1 protein
up seq anno comments: Pericentriolar material 1 protein C-terminal
up seq anno comments: Phosphomimetic mutant.
up seq anno comments: Phosphorylated.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PLK4
up seq anno comments: Phosphoserine; in variant Ser-159
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno feature ids: PRO_0000274037
up seq anno feature ids: VAR_030164
up seq anno feature ids: VAR_030165
up seq anno feature ids: VAR_030166
up seq anno feature ids: VAR_030167
up seq anno feature ids: VAR_030168
up seq anno feature ids: VAR_030169
up seq anno feature ids: VAR_030170
up seq anno feature ids: VAR_047381
up seq anno feature ids: VAR_047382
up seq anno feature ids: VAR_047383
up seq anno feature ids: VAR_047384
up seq anno feature ids: VSP_022609
up seq anno feature ids: VSP_022610
up seq anno feature ids: VSP_022611
up seq anno feature ids: VSP_059399
up seq anno feature ids: VSP_059400
up seq anno feature ids: VSP_059401

9606:GULP1
gene id: 9606:GULP1
uniprot id: H7BZV7
uniprot id: Q9UBP9
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Loss of dimerization; when associated with P-176.
up seq anno comments: Loss of dimerization; when associated with P-183.
up seq anno comments: PID
up seq anno comments: PTB domain-containing engulfment adapter protein 1
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000296679
up seq anno feature ids: VSP_027250
up seq anno feature ids: VSP_027251
up seq anno feature ids: VSP_044703
up seq anno feature ids: VSP_045540

9606:RHBDF1
gene id: 9606:RHBDF1
uniprot id: Q96CC6
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Helical
up seq anno comments: Inactive rhomboid protein 1
up seq anno comments: Loss of N-glycosylation.
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No effect.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000340104
up seq anno feature ids: VAR_044006

9606:GJB2
gene id: 9606:GJB2
uniprot id: H9U1J4
uniprot id: P29033
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: INTRAMEM
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: INTRAMEM
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Connexin N-terminal
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Gap junction beta-2 protein
up seq anno comments: Gap junction protein cysteine-rich
up seq anno comments: Helical
up seq anno comments: In BAPS.
up seq anno comments: In DFNA3A.
up seq anno comments: In DFNA3A; does not affect protein trafficking; affects the ability to form functional channels; dominant negative effect.
up seq anno comments: In DFNA3A; the mutant is targeted to the plasma membrane but fails to transfer ionic calcium or propidium iodide intercellularly suggesting disruption of both ionic and biochemical coupling; heterozygous gap junctions also show dysfunctional intercellular couplings and hemichannel opening confirming the dominant-negative nature of the mutation.
up seq anno comments: In DFNB1A.
up seq anno comments: In DFNB1A; does not form gap junctions since the mutated protein is confined in the cytoplasm and not transported to the cell membrane; when the mutation is coexpressed with the wild-type protein ionic and biochemical coupling is normal consistent with the recessive nature of the mutation.
up seq anno comments: In DFNB1A; it is correctly synthesized and targeted to the plasma membrane; it inefficiently forms intercellular channels that display an abnormal electrical behavior.
up seq anno comments: In DFNB1A; sorted to the plasma membrane normally and forms gap junctions that were morphologically and electrically indistinguishable from those of control; the mutation reduces the permeability of GJB2 gap junction channels to inositol 1,4,5-trisphosphate (Ins(1,4,5)P3), resulting in blockade of the Ins(1,4,5)P3-induced inward calcium current in neighboring cells.
up seq anno comments: In DFNB1A; the mutant disrupts cellular communication.
up seq anno comments: In KIDAD and HID syndrome.
up seq anno comments: In KIDAD.
up seq anno comments: In PPKDFN and DFNA3A; does not affect protein trafficking; affects the ability to form functional channels; dominant negative effect.
up seq anno comments: In PPKDFN; impairs trafficking; localizes intracellularly closed to the nucleus; affects the ability to form functional channels; phenotype can be rescued by coexpression with wild-type protein.
up seq anno comments: In PPKDFN; the mutant has a dominant-negative effect on connexin trafficking.
up seq anno comments: In PPKDFN; the mutant protein completely prevents the formation of functional channels.
up seq anno comments: In VOWNKL and PPKDFN; impairs trafficking; localizes intracellularly closed to the nucleus; affects the ability to form functional channels; phenotype can be rescued by coexpression with wild-type protein.
up seq anno comments: In VOWNKL.
up seq anno comments: In a patient with congenital erythrokeratodermia; unknown pathological significance.
up seq anno comments: In deafness.
up seq anno comments: Loss of gap junction ion conductance, probably due to very low open probability of the channels. Can form functional channels with wild-type, but with strongly reduced channel conductance. No visible effect on channel assembly and membrane insertion.
up seq anno comments: Loss of gap junction ion conductance.
up seq anno comments: May contribute to deafness.
up seq anno comments: Strongly reduced insertion into the cell membrane and strongly reduced gap junction plaque assembly.
up seq anno comments: in other chain
up seq anno feature ids: PRO_0000057855
up seq anno feature ids: VAR_002137
up seq anno feature ids: VAR_002138
up seq anno feature ids: VAR_002139
up seq anno feature ids: VAR_002140
up seq anno feature ids: VAR_002141
up seq anno feature ids: VAR_002142
up seq anno feature ids: VAR_002143
up seq anno feature ids: VAR_002144
up seq anno feature ids: VAR_002145
up seq anno feature ids: VAR_002146
up seq anno feature ids: VAR_008709
up seq anno feature ids: VAR_008710
up seq anno feature ids: VAR_009965

9606:ZDHHC3
gene id: 9606:ZDHHC3
uniprot id: F8W6M3
uniprot id: Q9NYG2
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: DHHC
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Impaired localization leading to localization to the endoplasmic reticulum.
up seq anno comments: In isoform 2.
up seq anno comments: Palmitoyltransferase DHHC
up seq anno comments: Palmitoyltransferase ZDHHC3
up seq anno comments: Phosphotyrosine
up seq anno comments: Probable loss of protein-cysteine S-palmitoyltransferase activity. Loss of function in the TRAIL-activated apoptotic signaling pathway.
up seq anno comments: Probable loss of protein-cysteine S-palmitoyltransferase activity. Loss of function in the TRAIL-activated apoptotic signaling pathway. No effect on binding of the TNFRSF10A substrate.
up seq anno comments: S-palmitoyl cysteine
up seq anno comments: S-palmitoyl cysteine intermediate
up seq anno feature ids: PRO_0000422064
up seq anno feature ids: VSP_006934

9606:BRME1
gene id: 9606:BRME1
uniprot id: Q0VDD7
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Break repair meiotic recombinase recruitment factor 1
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000295737
up seq anno feature ids: VAR_033356
up seq anno feature ids: VAR_033357
up seq anno feature ids: VSP_027044

9606:DEFB127
gene id: 9606:DEFB127
uniprot id: Q9H1M4
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Peptide
up seq anno parent labels: Propeptide
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno labels: Disulfide Bond
up seq anno labels: Peptide
up seq anno labels: Propeptide
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Beta-defensin 127
up seq anno feature ids: PRO_0000007002
up seq anno feature ids: PRO_0000007003
up seq anno feature ids: VAR_048864
up seq anno feature ids: VAR_048865

9606:SNAP29
gene id: 9606:SNAP29
uniprot id: O95721
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Synaptosomal-associated protein 29
up seq anno comments: t-SNARE coiled-coil homology
up seq anno feature ids: PRO_0000213601

9606:PPP1R3G
gene id: 9606:PPP1R3G
uniprot id: B7ZBB8
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: CBM21
up seq anno comments: Disordered
up seq anno comments: Phosphoserine
up seq anno comments: Protein phosphatase 1 regulatory subunit 3G
up seq anno feature ids: PRO_0000394965
up seq anno feature ids: VAR_063262

9606:UGT1A10
gene id: 9606:UGT1A10
uniprot id: Q5DT02
uniprot id: Q9HAW8
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Decreased estrone and 16alpha-hydroxyestrone glucuronosyltransferase activity.
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Increased estriol, 17-epiestriol and 16alpha-hydroxyestrone glucuronosyltransferase activity. Decreased of estrone and 16-epiestriol glucuronosyltransferase activity.
up seq anno comments: Loss of estrone and 16alpha-hydroxyestrone glucuronosyltransferase activity.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: UDP-glucuronosyltransferase
up seq anno comments: UDP-glucuronosyltransferase 1A10
up seq anno feature ids: PRO_0000036009
up seq anno feature ids: PRO_5014205884
up seq anno feature ids: VAR_018354
up seq anno feature ids: VAR_018355
up seq anno feature ids: VAR_052464
up seq anno feature ids: VAR_052465
up seq anno feature ids: VSP_053966

9606:NRSN1
gene id: 9606:NRSN1
uniprot id: Q8IZ57
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: Neurensin-1
up seq anno feature ids: PRO_0000270583
up seq anno feature ids: VAR_029816
up seq anno feature ids: VAR_053737

9606:ABCA13
gene id: 9606:ABCA13
uniprot id: A0A0A0MT16
uniprot id: Q86UQ4
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: ABC transporter
up seq anno comments: ABC transporter 1
up seq anno comments: ABC transporter 2
up seq anno comments: ATP-binding cassette sub-family A member 13
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4, isoform 5, isoform 6 and isoform 7.
up seq anno comments: In isoform 5, isoform 6 and isoform 7.
up seq anno comments: In isoform 6.
up seq anno comments: In isoform 7.
up seq anno feature ids: PRO_0000253573
up seq anno feature ids: VAR_055470
up seq anno feature ids: VAR_059087
up seq anno feature ids: VAR_059088
up seq anno feature ids: VAR_059089
up seq anno feature ids: VAR_059090
up seq anno feature ids: VAR_059091
up seq anno feature ids: VAR_059092
up seq anno feature ids: VAR_059093
up seq anno feature ids: VAR_059094
up seq anno feature ids: VAR_059095
up seq anno feature ids: VAR_059096
up seq anno feature ids: VAR_059097
up seq anno feature ids: VAR_059098
up seq anno feature ids: VAR_059099
up seq anno feature ids: VAR_059100
up seq anno feature ids: VAR_059101
up seq anno feature ids: VAR_059102
up seq anno feature ids: VAR_059103
up seq anno feature ids: VAR_059104
up seq anno feature ids: VAR_059105
up seq anno feature ids: VSP_021068
up seq anno feature ids: VSP_021069
up seq anno feature ids: VSP_021070
up seq anno feature ids: VSP_054633
up seq anno feature ids: VSP_054634
up seq anno feature ids: VSP_054635
up seq anno feature ids: VSP_054636

9606:ZSCAN21
gene id: 9606:ZSCAN21
uniprot id: Q9Y5A6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Polar residues
up seq anno comments: SCAN box
up seq anno comments: Zinc finger and SCAN domain-containing protein 21
up seq anno feature ids: PRO_0000047297

9606:FAM200B
gene id: 9606:FAM200B
uniprot id: P0CF97
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno comments: Protein FAM200B
up seq anno feature ids: PRO_0000394262

9606:CD7
gene id: 9606:CD7
uniprot id: P09564
uniprot id: Q29VG3
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Lipid Binding
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: 1
up seq anno comments: 2
up seq anno comments: 3
up seq anno comments: 4
up seq anno comments: 4 X 9 AA tandem repeats, potential spacer function
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Ig-like
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: S-palmitoyl cysteine
up seq anno comments: T-cell antigen CD7
up seq anno feature ids: PRO_0000014633
up seq anno feature ids: PRO_5014308630
up seq anno feature ids: VAR_049855

9606:DNAH10
gene id: 9606:DNAH10
uniprot id: B0I1S1
uniprot id: Q8IVF4
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Motif
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: AAA 1
up seq anno comments: AAA 2
up seq anno comments: AAA 3
up seq anno comments: AAA 4
up seq anno comments: AAA 5
up seq anno comments: AAA 6
up seq anno comments: AAA+ ATPase
up seq anno comments: Basic and acidic residues
up seq anno comments: CFDEFNR motif
up seq anno comments: Disordered
up seq anno comments: Dynein axonemal heavy chain 10
up seq anno comments: GPAGTGKT motif
up seq anno comments: In SPGF56.
up seq anno comments: In SPGF56; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Stalk
up seq anno comments: Stem
up seq anno comments: TPR 1
up seq anno comments: TPR 2
up seq anno comments: TPR 3
up seq anno comments: TPR 4
up seq anno comments: TPR 5
up seq anno feature ids: PRO_0000318938
up seq anno feature ids: VAR_038916
up seq anno feature ids: VAR_060135
up seq anno feature ids: VAR_060136
up seq anno feature ids: VAR_060137
up seq anno feature ids: VAR_060138
up seq anno feature ids: VAR_060139
up seq anno feature ids: VAR_060140
up seq anno feature ids: VAR_062177
up seq anno feature ids: VAR_086228
up seq anno feature ids: VAR_086229
up seq anno feature ids: VAR_086230
up seq anno feature ids: VAR_086231
up seq anno feature ids: VSP_033518
up seq anno feature ids: VSP_033519

9606:FEM1B
gene id: 9606:FEM1B
uniprot id: Q9UK73
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Repeat
up seq anno labels: Site
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: ANK 1
up seq anno comments: ANK 2
up seq anno comments: ANK 3
up seq anno comments: ANK 4
up seq anno comments: ANK 5
up seq anno comments: ANK 6
up seq anno comments: ANK 7
up seq anno comments: ANK 8
up seq anno comments: Abolished ability to promote ubiquitination of target proteins such as GLI1.
up seq anno comments: Abolished binding to -Gly-Leu-Asp-Arg C-degron at the C-terminus.
up seq anno comments: Abolished binding to -Gly-Leu-Asp-Arg C-degron at the C-terminus; when associated with A-131.
up seq anno comments: Abolished binding to -Gly-Leu-Asp-Arg C-degron at the C-terminus; when associated with A-82.
up seq anno comments: Cleavage; by a caspase-3-like protease
up seq anno comments: Does not affect cleavage by a caspase-3-like protease.
up seq anno comments: Prevents cleavage by a caspase-3-like protease.
up seq anno comments: Protein fem-1 homolog B
up seq anno comments: Strongly reduced binding to -Gly-Leu-Asp-Arg C-degron at the C-terminus; when associated with A-163.
up seq anno comments: Strongly reduced binding to -Gly-Leu-Asp-Arg C-degron at the C-terminus; when associated with A-193.
up seq anno comments: TPR
up seq anno feature ids: PRO_0000324530

9606:TTF2
gene id: 9606:TTF2
uniprot id: Q9UNY4
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: DEAH box
up seq anno comments: Disordered
up seq anno comments: GRF-type
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Helicase ATP-binding
up seq anno comments: Helicase C-terminal
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Transcription termination factor 2
up seq anno feature ids: PRO_0000074376
up seq anno feature ids: VAR_023393
up seq anno feature ids: VAR_034431
up seq anno feature ids: VAR_061234
up seq anno feature ids: VAR_061235
up seq anno feature ids: VAR_061236
up seq anno feature ids: VSP_015370
up seq anno feature ids: VSP_015371

9606:CHMP4C
gene id: 9606:CHMP4C
uniprot id: Q96CF2
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Abolishes localization to the Flemming body and ability to delay abscission.
up seq anno comments: Basic and acidic residues
up seq anno comments: Charged multivesicular body protein 4c
up seq anno comments: Disordered
up seq anno comments: Intramolecular interaction with C-terminus
up seq anno comments: Intramolecular interaction with N-terminus
up seq anno comments: Phosphoserine; by AURKB
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000211495
up seq anno feature ids: VAR_052028

9606:TACR3
gene id: 9606:TACR3
uniprot id: P29371
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Lipid Binding
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: In HH11.
up seq anno comments: In HH11; the patient also carries a mutation in FGFR1.
up seq anno comments: In HH11; unequivocal evidence of impaired receptor signaling.
up seq anno comments: May contribute to hypogonadotropic hypogonadism in patients carrying disease-causing mutations in FGFR1.
up seq anno comments: May contribute to hypogonadotropic hypogonadism in patients carrying disease-causing mutations in SPRY4 or KAL1.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Neuromedin-K receptor
up seq anno comments: Polar residues
up seq anno comments: S-palmitoyl cysteine
up seq anno feature ids: PRO_0000069899
up seq anno feature ids: VAR_049422
up seq anno feature ids: VAR_049423
up seq anno feature ids: VAR_069177
up seq anno feature ids: VAR_069178
up seq anno feature ids: VAR_069963
up seq anno feature ids: VAR_072976
up seq anno feature ids: VAR_072977

9606:PGM2L1
gene id: 9606:PGM2L1
uniprot id: Q6PCE3
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Glucose 1,6-bisphosphate synthase
up seq anno comments: In NEDHFS.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine intermediate
up seq anno comments: via phosphate group
up seq anno feature ids: PRO_0000147784
up seq anno feature ids: VAR_028094
up seq anno feature ids: VAR_028095
up seq anno feature ids: VAR_056665
up seq anno feature ids: VAR_087994
up seq anno feature ids: VAR_087995

9606:MFSD13A
gene id: 9606:MFSD13A
uniprot id: Q14CX5
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: Transmembrane protein 180
up seq anno feature ids: PRO_0000256224

9606:UBXN4
gene id: 9606:UBXN4
uniprot id: Q92575
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: INTRAMEM
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: INTRAMEM
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Interaction with UBQLN1
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: UBX
up seq anno comments: UBX domain-containing protein 4
up seq anno feature ids: PRO_0000211027
up seq anno feature ids: VAR_052686

9606:CPLANE1
gene id: 9606:CPLANE1
uniprot id: A0A494BZW6
uniprot id: Q9H799
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Ciliogenesis and planar polarity effector 1
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In JBTS17.
up seq anno comments: In OFD6.
up seq anno comments: In OFD6; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: May be associated with susceptibility to monomelic amyotrophy.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000332133
up seq anno feature ids: VAR_042948
up seq anno feature ids: VAR_042949
up seq anno feature ids: VAR_042950
up seq anno feature ids: VAR_042951
up seq anno feature ids: VAR_042952
up seq anno feature ids: VAR_068165
up seq anno feature ids: VAR_068166
up seq anno feature ids: VAR_068167
up seq anno feature ids: VAR_072544
up seq anno feature ids: VAR_072553
up seq anno feature ids: VAR_072554
up seq anno feature ids: VAR_072555
up seq anno feature ids: VAR_072556
up seq anno feature ids: VAR_076776
up seq anno feature ids: VAR_076777
up seq anno feature ids: VAR_076778
up seq anno feature ids: VAR_076779
up seq anno feature ids: VAR_076780
up seq anno feature ids: VAR_076781
up seq anno feature ids: VAR_077558
up seq anno feature ids: VAR_082878
up seq anno feature ids: VSP_044052
up seq anno feature ids: VSP_044053
up seq anno feature ids: VSP_044054
up seq anno feature ids: VSP_044055

9606:ANXA11
gene id: 9606:ANXA11
uniprot id: P50995
uniprot id: Q5T0G8
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Annexin 1
up seq anno comments: Annexin 2
up seq anno comments: Annexin 3
up seq anno comments: Annexin 4
up seq anno comments: Annexin A11
up seq anno comments: Disordered
up seq anno comments: In ALS23; forms cytoplasmic aggregates in patient tissues; no effect on nuclear and cytoplasmic localization; loss of interaction with S100A6.
up seq anno comments: In ALS23; unknown pathological significance.
up seq anno comments: In ALS23; unknown pathological significance; changed cytoplasmic localization with decreased association with vesicle-like structures; increased interaction with S100A6.
up seq anno comments: In ALS23; unknown pathological significance; increased aggregation in the cytoplasm sequestering the wild-type protein in these aggregates; loss of interaction with S100A6.
up seq anno comments: In ALS23; unknown pathological significance; no effect on aggregation; loss of interaction with S100A6.
up seq anno comments: In IBMWMA.
up seq anno comments: In isoform 2.
up seq anno comments: N6-acetyllysine
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000067510
up seq anno feature ids: VAR_012006
up seq anno feature ids: VAR_012007
up seq anno feature ids: VAR_048259
up seq anno feature ids: VAR_080653
up seq anno feature ids: VAR_080654
up seq anno feature ids: VAR_080655
up seq anno feature ids: VAR_080656
up seq anno feature ids: VAR_080657
up seq anno feature ids: VAR_080658
up seq anno feature ids: VAR_087101
up seq anno feature ids: VSP_054553

9606:SIGLEC8
gene id: 9606:SIGLEC8
uniprot id: Q9NYZ4
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Abolishes binding to 6'-sulfo sialyl-Lewis X.
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Found in a renal cell carcinoma sample; somatic mutation.
up seq anno comments: Helical
up seq anno comments: ITIM motif
up seq anno comments: Ig-like C2-type 1
up seq anno comments: Ig-like C2-type 2
up seq anno comments: Ig-like V-type
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Indispensable role in 6'-sulfo sialyl-Lewis X
up seq anno comments: Minor effects on binding to 6'-sulfo sialyl-Lewis X.
up seq anno comments: Modestly affected binding to 6'-sulfo sialyl-Lewis X.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: SLAM-like motif
up seq anno comments: Sialic acid-binding Ig-like lectin 8
up seq anno comments: Strongly impaired binding to 6'-sulfo sialyl-Lewis X.
up seq anno feature ids: PRO_0000014948
up seq anno feature ids: VAR_021487
up seq anno feature ids: VAR_049930
up seq anno feature ids: VAR_064751
up seq anno feature ids: VSP_002559
up seq anno feature ids: VSP_002560

9606:SULT1C2
gene id: 9606:SULT1C2
uniprot id: O00338
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: In isoform Long.
up seq anno comments: Phosphoserine
up seq anno comments: Proton acceptor
up seq anno comments: Sulfotransferase 1C2
up seq anno feature ids: PRO_0000085132
up seq anno feature ids: VAR_021986
up seq anno feature ids: VAR_021987
up seq anno feature ids: VAR_061888
up seq anno feature ids: VSP_006303

9606:DCAF12
gene id: 9606:DCAF12
uniprot id: Q5T6F0
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: DDB1- and CUL4-associated factor 12
up seq anno comments: Disordered
up seq anno comments: Phosphoserine
up seq anno comments: Reduces association with DDB1.
up seq anno comments: Required for nuclear location and interaction with MOV10
up seq anno comments: WD 1
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno feature ids: PRO_0000306840
up seq anno feature ids: VAR_035322

9606:CSF1
gene id: 9606:CSF1
uniprot id: P09603
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Does not affect production of 150-200 kDa subunit.
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Interchain
up seq anno comments: Loss of 43 kDa subunit.
up seq anno comments: Loss of chondroitin sulfate attachment.
up seq anno comments: Lumenal
up seq anno comments: Macrophage colony-stimulating factor 1
up seq anno comments: Macrophage colony-stimulating factor 1 43 kDa subunit
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: O-glycosylated at one site
up seq anno comments: O-linked (GalNAc...) threonine
up seq anno comments: O-linked (Xyl...) (chondroitin sulfate) serine
up seq anno comments: Phosphothreonine; by FAM20C
up seq anno comments: Polar residues
up seq anno comments: Processed macrophage colony-stimulating factor 1
up seq anno comments: Produces biologically active protein which is secreted.
up seq anno feature ids: PRO_0000005857
up seq anno feature ids: PRO_0000296231
up seq anno feature ids: PRO_0000457791
up seq anno feature ids: VAR_020454
up seq anno feature ids: VAR_020455
up seq anno feature ids: VAR_022146
up seq anno feature ids: VAR_029320
up seq anno feature ids: VAR_048810
up seq anno feature ids: VAR_048811
up seq anno feature ids: VSP_001187
up seq anno feature ids: VSP_001188

9606:SCN4B
gene id: 9606:SCN4B
uniprot id: B0YJ93
uniprot id: Q8IWT1
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Abolishes regulation of channel activity.
up seq anno comments: Cytoplasmic
up seq anno comments: Decreases protein stability. Causes conformation changes that impair interaction with the alpha subunit.
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Ig-like
up seq anno comments: Ig-like C2-type
up seq anno comments: In ATFB17.
up seq anno comments: In LQT10; increase in late sodium current.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Interchain; with alpha subunit
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Sodium channel subunit beta-4
up seq anno feature ids: PRO_0000014937
up seq anno feature ids: PRO_5014298170
up seq anno feature ids: VAR_043488
up seq anno feature ids: VAR_071317
up seq anno feature ids: VAR_071318
up seq anno feature ids: VSP_046971
up seq anno feature ids: VSP_053913

9606:IGFBP1
gene id: 9606:IGFBP1
uniprot id: P08833
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Cell attachment site
up seq anno comments: IGFBP N-terminal
up seq anno comments: Insulin-like growth factor-binding protein 1
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by FAM20C
up seq anno comments: Phosphothreonine; by FAM20C
up seq anno comments: Phosphotyrosine
up seq anno comments: Thyroglobulin type-1
up seq anno feature ids: PRO_0000014365
up seq anno feature ids: VAR_003821
up seq anno feature ids: VAR_011905
up seq anno feature ids: VAR_049564

9606:HTR1F
gene id: 9606:HTR1F
uniprot id: P30939
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Site
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Motif
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: 5-hydroxytryptamine receptor 1F
up seq anno comments: Cytoplasmic
up seq anno comments: DRY motif; important for ligand-induced conformation changes
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: NPxxY motif; important for ligand-induced conformation changes and signaling
up seq anno feature ids: PRO_0000068937

9606:AK5
gene id: 9606:AK5
uniprot id: Q9Y6K8
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Adenylate kinase 1
up seq anno comments: Adenylate kinase 2
up seq anno comments: Adenylate kinase isoenzyme 5
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: LID 1
up seq anno comments: LID 2
up seq anno comments: NMP 1
up seq anno comments: NMP 2
up seq anno feature ids: PRO_0000158930
up seq anno feature ids: VAR_059435
up seq anno feature ids: VSP_037878
up seq anno feature ids: VSP_037879

9606:ABITRAM
gene id: 9606:ABITRAM
uniprot id: Q9NX38
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno comments: Protein Abitram
up seq anno feature ids: PRO_0000291928

9606:DIAPH1
gene id: 9606:DIAPH1
uniprot id: A0A2R8Y5N1
uniprot id: O60610
uniprot id: Q6URC4
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: DAD
up seq anno comments: Disordered
up seq anno comments: FH1
up seq anno comments: FH2
up seq anno comments: GBD/FH3
up seq anno comments: In DFNA1.
up seq anno comments: In DFNA1; with thrombocytopenia; affects function in regulation of cytoskeleton organization.
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylmethionine
up seq anno comments: N6-acetyllysine
up seq anno comments: Partial decrease of phosphorylation.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Protein diaphanous homolog 1
up seq anno comments: Substantial loss of phosphorylation, no increase of phosphorylation in response to cAMP, increased stability, reduced interaction with OSBPL2 and OSBPL10 and reduced mitochondrial movement.
up seq anno comments: Substantial loss of phosphorylation.
up seq anno feature ids: PRO_0000194893
up seq anno feature ids: VAR_078862
up seq anno feature ids: VAR_079874
up seq anno feature ids: VSP_035870
up seq anno feature ids: VSP_035871
up seq anno feature ids: VSP_035872

9606:FGFR4
gene id: 9606:FGFR4
uniprot id: B4DVP5
uniprot id: J3KPQ0
uniprot id: P22455
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Fibroblast growth factor receptor
up seq anno comments: Fibroblast growth factor receptor 4
up seq anno comments: Helical
up seq anno comments: Ig-like
up seq anno comments: Ig-like C2-type 1
up seq anno comments: Ig-like C2-type 2
up seq anno comments: Ig-like C2-type 3
up seq anno comments: In a lung adenocarcinoma sample; somatic mutation.
up seq anno comments: In a lung neuroendocrine carcinoma sample; somatic mutation.
up seq anno comments: In breast pleomorphic lobular sample; somatic mutation.
up seq anno comments: In cancer cells, may be associated with accelerated disease progression and increased tumor cell motility, possibly due to increased stability of the protease MMP14; leads to phosphorylation at residue Y-390, resulting in prolonged FGFR4 activity; increases interaction with STAT3, resulting in STAT3 phosphorylation and signaling activation..
up seq anno comments: In isoform 2.
up seq anno comments: Loss of interaction with PLCG1.
up seq anno comments: Loss of kinase activity.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine; by autocatalysis
up seq anno comments: Phosphotyrosine; in variant R-388
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000016787
up seq anno feature ids: PRO_5002801024
up seq anno feature ids: PRO_5003771633
up seq anno feature ids: VAR_014797
up seq anno feature ids: VAR_029185
up seq anno feature ids: VAR_042211
up seq anno feature ids: VAR_042212
up seq anno feature ids: VAR_042213

9606:DND1
gene id: 9606:DND1
uniprot id: Q8IYX4
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Strand
up seq anno comments: Dead end protein homolog 1
up seq anno comments: RRM 1
up seq anno comments: RRM 2
up seq anno feature ids: PRO_0000081568

9606:CFAP206
gene id: 9606:CFAP206
uniprot id: Q8IYR0
uniprot id: Q8N771
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Cilia- and flagella-associated protein 206
up seq anno comments: Disordered
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000089553
up seq anno feature ids: VAR_033679
up seq anno feature ids: VAR_033680

9606:TMEM41A
gene id: 9606:TMEM41A
uniprot id: Q96HV5
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Signal Peptide
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Transmembrane protein 41A
up seq anno comments: VTT domain
up seq anno feature ids: PRO_0000271775

9606:TRIM54
gene id: 9606:TRIM54
uniprot id: Q9BYV2
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: B box-type
up seq anno comments: COS
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Mediates microtubule-binding and homooligomerization
up seq anno comments: RING-type
up seq anno comments: Tripartite motif-containing protein 54
up seq anno feature ids: PRO_0000056282
up seq anno feature ids: VSP_016061

9606:HTRA4
gene id: 9606:HTRA4
uniprot id: P83105
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno comments: Charge relay system
up seq anno comments: IGFBP N-terminal
up seq anno comments: Kazal-like
up seq anno comments: PDZ
up seq anno comments: Serine protease
up seq anno comments: Serine protease HTRA4
up seq anno feature ids: PRO_0000026951

9606:CCNI
gene id: 9606:CCNI
uniprot id: Q14094
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Cyclin-I
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000080476
up seq anno feature ids: VAR_016312
up seq anno feature ids: VSP_056682

9606:TENT4A
gene id: 9606:TENT4A
uniprot id: A0A9H4DBI9
uniprot id: B7ZLL4
uniprot id: Q5XG87
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Localizes to cytoplasm.
up seq anno comments: PAP-associated
up seq anno comments: Polar residues
up seq anno comments: Polymerase nucleotidyl transferase
up seq anno comments: Pro residues
up seq anno comments: Terminal nucleotidyltransferase 4A
up seq anno feature ids: PRO_0000120308
up seq anno feature ids: VAR_021175
up seq anno feature ids: VAR_021176
up seq anno feature ids: VSP_053732

9606:NPDC1
gene id: 9606:NPDC1
uniprot id: Q9NQX5
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: Neural proliferation differentiation and control protein 1
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000021830

9606:MATCAP2
gene id: 9606:MATCAP2
uniprot id: Q8NCT3
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 3 and isoform 6.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5 and isoform 6.
up seq anno comments: In isoform 5.
up seq anno comments: Nucleophile
up seq anno comments: Putative tyrosine carboxypeptidase MATCAP2
up seq anno feature ids: PRO_0000320617
up seq anno feature ids: VSP_031685
up seq anno feature ids: VSP_031686
up seq anno feature ids: VSP_031687
up seq anno feature ids: VSP_043322
up seq anno feature ids: VSP_043323

9606:GDI2
gene id: 9606:GDI2
uniprot id: P50395
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylmethionine
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-succinyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Rab GDP dissociation inhibitor beta
up seq anno feature ids: PRO_0000056679
up seq anno feature ids: VSP_043469

9606:COL10A1
gene id: 9606:COL10A1
uniprot id: A0A650AXN9
uniprot id: Q03692
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: C1q
up seq anno comments: Collagen alpha-1(X) chain
up seq anno comments: Disordered
up seq anno comments: In SMCD and spondylometaphyseal dysplasia Japanese type.
up seq anno comments: In SMCD.
up seq anno comments: Nonhelical region (NC1)
up seq anno comments: Nonhelical region (NC2)
up seq anno comments: Pro residues
up seq anno comments: Triple-helical region
up seq anno feature ids: PRO_0000005770
up seq anno feature ids: PRO_5025069452
up seq anno feature ids: VAR_001838
up seq anno feature ids: VAR_001839
up seq anno feature ids: VAR_001840
up seq anno feature ids: VAR_001841
up seq anno feature ids: VAR_001842
up seq anno feature ids: VAR_001843
up seq anno feature ids: VAR_001844
up seq anno feature ids: VAR_001845
up seq anno feature ids: VAR_001846
up seq anno feature ids: VAR_001847
up seq anno feature ids: VAR_001848
up seq anno feature ids: VAR_001849
up seq anno feature ids: VAR_001850
up seq anno feature ids: VAR_008039
up seq anno feature ids: VAR_023186
up seq anno feature ids: VAR_023187
up seq anno feature ids: VAR_023188
up seq anno feature ids: VAR_023189
up seq anno feature ids: VAR_023190
up seq anno feature ids: VAR_023191
up seq anno feature ids: VAR_023192
up seq anno feature ids: VAR_023193
up seq anno feature ids: VAR_048767

9606:TRIOBP
gene id: 9606:TRIOBP
uniprot id: Q9H2D6
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Abolishes interaction with TERF1.
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Does not affect interaction with TERF1.
up seq anno comments: Does not affect interaction with TERF1. Remains associated with TERF1 at the telomere in late prometaphase cells.
up seq anno comments: Essentiel for its aggregation
up seq anno comments: In DFNB28.
up seq anno comments: In isoform 1.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4 and isoform 5.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6 and isoform 7.
up seq anno comments: In isoform 6.
up seq anno comments: Omega-N-methylarginine
up seq anno comments: PH
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Prevents the localization of TERF1 to the centrosome.
up seq anno comments: TRIO and F-actin-binding protein
up seq anno feature ids: PRO_0000072433
up seq anno feature ids: VAR_025719
up seq anno feature ids: VAR_051412
up seq anno feature ids: VAR_051413
up seq anno feature ids: VAR_051414
up seq anno feature ids: VAR_059725
up seq anno feature ids: VAR_059726
up seq anno feature ids: VAR_059727
up seq anno feature ids: VAR_059728
up seq anno feature ids: VAR_061708
up seq anno feature ids: VSP_017711
up seq anno feature ids: VSP_017712
up seq anno feature ids: VSP_017713
up seq anno feature ids: VSP_017714
up seq anno feature ids: VSP_017715
up seq anno feature ids: VSP_017716
up seq anno feature ids: VSP_017717
up seq anno feature ids: VSP_047498
up seq anno feature ids: VSP_047499
up seq anno feature ids: VSP_047500
up seq anno feature ids: VSP_047501

9606:LSM8
gene id: 9606:LSM8
uniprot id: A4D0W0
uniprot id: O95777
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno comments: N-acetylthreonine
up seq anno comments: Removed
up seq anno comments: Sm
up seq anno comments: U6 snRNA-associated Sm-like protein LSm8
up seq anno feature ids: PRO_0000125582

9606:MARK1
gene id: 9606:MARK1
uniprot id: A0A087X0I6
uniprot id: B4DIB3
uniprot id: Q9P0L2
uniprot id: X5D2M4
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Constitutively active.
up seq anno comments: Disordered
up seq anno comments: Impairs phospholipid-binding, targeting to membrane and vesicle-binding; when associated with S-698.
up seq anno comments: Impairs phospholipid-binding, targeting to membrane and vesicle-binding; when associated with S-701.
up seq anno comments: Impairs phospholipid-binding.
up seq anno comments: In a gastric adenocarcinoma sample; somatic mutation.
up seq anno comments: In an ovarian serous carcinoma sample; somatic mutation.
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: KA1
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by GSK3-beta
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by LKB1 and TAOK1
up seq anno comments: Phosphothreonine; by PKC/PRKCZ
up seq anno comments: Polar residues
up seq anno comments: Prevents phosphorylation and activation by STK11/LKB1 complex.
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Serine/threonine-protein kinase MARK1
up seq anno comments: UBA
up seq anno feature ids: PRO_0000086298
up seq anno feature ids: VAR_030018
up seq anno feature ids: VAR_040760
up seq anno feature ids: VAR_040761
up seq anno feature ids: VAR_040762
up seq anno feature ids: VAR_040763
up seq anno feature ids: VAR_040764
up seq anno feature ids: VSP_051702
up seq anno feature ids: VSP_051703
up seq anno feature ids: VSP_051704

9606:LILRB3
gene id: 9606:LILRB3
uniprot id: C9JWL8
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Signal Peptide
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: Ig-like
up seq anno comments: Polar residues
up seq anno feature ids: PRO_5035250269

9606:NAIP
gene id: 9606:NAIP
uniprot id: Q13075
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: BIR 1
up seq anno comments: BIR 2
up seq anno comments: BIR 3
up seq anno comments: Baculoviral IAP repeat-containing protein 1
up seq anno comments: In isoform 2.
up seq anno comments: NACHT
up seq anno comments: Prevents the proper cleavage of pro-CASP9, but does not inhibit the cleavage of pro-CASP3 by CASP9.
up seq anno feature ids: PRO_0000122341
up seq anno feature ids: VAR_026477
up seq anno feature ids: VSP_047196
up seq anno feature ids: VSP_047197

9606:TRPM2
gene id: 9606:TRPM2
uniprot id: B4DVI8
uniprot id: O94759
uniprot id: Q14DR2
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: INTRAMEM
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: INTRAMEM
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Abolishes channel activity.
up seq anno comments: Abolishes lowering of temperature threshold for activation in response to reactive oxygen species.
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Decreased channel activity in response to ADP-ribose.
up seq anno comments: Decreased channel activity.
up seq anno comments: Decreases channel activity.
up seq anno comments: Disordered
up seq anno comments: Expected to abolish the initially proposed hydrolase activity. Does not abolish channel activity in response to ADP-ribose.
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of channel activity.
up seq anno comments: Mildly decreases channel activity.
up seq anno comments: Moderately decreases channel activity.
up seq anno comments: Nearly abolishes channel activity.
up seq anno comments: No effect on channel activity.
up seq anno comments: No effect on channel activity; when associated with G-1407.
up seq anno comments: No effect on channel activity; when associated with Q-1400.
up seq anno comments: No significant effect on channel activity; when associated with A-302.
up seq anno comments: No significant effect on channel activity; when associated with A-358.
up seq anno comments: Nudix box
up seq anno comments: Nudix hydrolase
up seq anno comments: Only slight effect on activity.
up seq anno comments: Pore-forming
up seq anno comments: Prevents fast inactivation of the channel.
up seq anno comments: Strongly increased residual channel activity after exposure to pH 5.5.
up seq anno comments: Strongly reduces channel activity at ph 7.3. Increased residual channel activity after exposure to pH 5.5.
up seq anno comments: Transient receptor potential cation channel subfamily M member 2
up seq anno feature ids: PRO_0000215326
up seq anno feature ids: VAR_020032
up seq anno feature ids: VAR_025216
up seq anno feature ids: VAR_025217
up seq anno feature ids: VAR_025218
up seq anno feature ids: VAR_025219

9606:ANAPC4
gene id: 9606:ANAPC4
uniprot id: B3KN47
uniprot id: Q9UJX5
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Anaphase-promoting complex subunit 4
up seq anno comments: Anaphase-promoting complex subunit 4 long
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Impairs UBE2S-mediated polyubiquitination, decreasing substrate affinity. Does not affect UBE2C-mediated multiubiquitination.
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno feature ids: PRO_0000064595
up seq anno feature ids: VAR_035792
up seq anno feature ids: VAR_054044
up seq anno feature ids: VAR_054045
up seq anno feature ids: VSP_008464
up seq anno feature ids: VSP_008465
up seq anno feature ids: VSP_056708

9606:SGSM3
gene id: 9606:SGSM3
uniprot id: B4DVE3
uniprot id: B9A6J5
uniprot id: Q96HU1
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: RUN
up seq anno comments: Rab-GAP TBC
up seq anno comments: SH3
up seq anno comments: Small G protein signaling modulator 3
up seq anno feature ids: PRO_0000307810
up seq anno feature ids: VAR_051345
up seq anno feature ids: VAR_051346
up seq anno feature ids: VSP_052561

9606:ICAM5
gene id: 9606:ICAM5
uniprot id: Q8N6I2
uniprot id: Q9UMF0
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Ig-like
up seq anno comments: Ig-like C2-type 1
up seq anno comments: Ig-like C2-type 2
up seq anno comments: Ig-like C2-type 3
up seq anno comments: Ig-like C2-type 4
up seq anno comments: Ig-like C2-type 5
up seq anno comments: Ig-like C2-type 6
up seq anno comments: Ig-like C2-type 7
up seq anno comments: Ig-like C2-type 8
up seq anno comments: Ig-like C2-type 9
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: Intercellular adhesion molecule 5
up seq anno comments: N-linked (GlcNAc...) (high mannose) asparagine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000014799
up seq anno feature ids: VAR_035515
up seq anno feature ids: VAR_035516
up seq anno feature ids: VAR_035517
up seq anno feature ids: VAR_056046
up seq anno feature ids: VAR_056047

9606:DTX2
gene id: 9606:DTX2
uniprot id: Q86UW9
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Asymmetric dimethylarginine
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: N6-acetyllysine
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Probable E3 ubiquitin-protein ligase DTX2
up seq anno comments: RING-type
up seq anno comments: WWE 1
up seq anno comments: WWE 2
up seq anno feature ids: PRO_0000219083
up seq anno feature ids: VAR_016920
up seq anno feature ids: VAR_016921
up seq anno feature ids: VAR_016922
up seq anno feature ids: VSP_008350

9606:XRCC4
gene id: 9606:XRCC4
uniprot id: Q13426
uniprot id: Q7Z763
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolished DNA-binding.
up seq anno comments: Abolished ability mediate double-strand break repair; impaired nuclear localization.
up seq anno comments: Abolished ability to bridge DNA; when associated with E-72 and E-99.
up seq anno comments: Abolished cleavage by caspase and ability to regulate phospholipid scramblase activity.
up seq anno comments: Abolished interaction with NHEJ1/XLF.
up seq anno comments: Abolished interaction with NHEJ1/XLF; when associated with E-4 or E-26 or E-65 or E-71 or E-72. Abolished ability to bridge DNA; when associated with E-65. Abolished ability to bridge DNA; when associated with E-72 and E-90.
up seq anno comments: Abolished interaction with NHEJ1/XLF; when associated with E-65.
up seq anno comments: Abolished interaction with NHEJ1/XLF; when associated with E-99.
up seq anno comments: Abolished interaction with NHEJ1/XLF; when associated with E-99. Abolished ability to bridge DNA; when associated with E-90 and E-99.
up seq anno comments: Abolished nuclear localization of XRCC4 and LIG4. Impaired ability to repair DNA double-strand breaks (DSBs). Reduced ubiquitination by the SCF(FBXW7) complex caused by impaired localization to the nucleus.
up seq anno comments: Abolished phosphorylation by CK2, leading to strongly reduced interaction with PNKP.
up seq anno comments: Abolished ubiquitination by the SCF(FBXW7) complex.
up seq anno comments: Abolishes sumoylation. 5-fold decrease in recombination efficiency. Does not affect nuclear localization of XRCC4 and LIG4.
up seq anno comments: Basic and acidic residues
up seq anno comments: Cleavage; by caspase-3
up seq anno comments: DNA repair protein XRCC4
up seq anno comments: Disordered
up seq anno comments: Does not affect ability mediate double-strand break repair.
up seq anno comments: Does not affect ability mediate double-strand break repair. In XRCC4-Asp mutant; phospho-mimetic mutant; abolished ability to bridge DNA when associated with NHEJ1/XLF phospho-mimetic mutant; when associated with D-193, D-260, D-304, D-315, D-320, D-323 and D-327.
up seq anno comments: Does not affect ability mediate double-strand break repair. In XRCC4-Asp mutant; phospho-mimetic mutant; abolished ability to bridge DNA when associated with NHEJ1/XLF phospho-mimetic mutant; when associated with D-193, D-260, D-304, D-315, D-320, D-323 and D-328.
up seq anno comments: Does not affect ability mediate double-strand break repair. In XRCC4-Asp mutant; phospho-mimetic mutant; abolished ability to bridge DNA when associated with NHEJ1/XLF phospho-mimetic mutant; when associated with D-193, D-260, D-304, D-315, D-320, D-327 and D-328.
up seq anno comments: Does not affect ability to localize into the nucleus.
up seq anno comments: Does not affect interaction with NHEJ1/XLF.
up seq anno comments: Does not affect phosphorylation by CK2.
up seq anno comments: Does not affect ubiquitination by the SCF(FBXW7) complex.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Impaired ability mediate double-strand break repair.
up seq anno comments: Impaired ability to localize in the nucleus, without affecting ability to activate phospholipid scramblase activity of XKR4.
up seq anno comments: Impaired ability to localize in the nucleus.
up seq anno comments: In 2DA; abolished cleavage by caspase and ability to regulate phospholipid scramblase activity.
up seq anno comments: In SSMED.
up seq anno comments: In SSMED; impaired ability to repair DNA double-strand breaks.
up seq anno comments: In SSMED; impairs the protein function in DNA double-strand break repair.
up seq anno comments: In SSMED; no expression of the protein is observed; complete loss of function in DNA double-strand break repair.
up seq anno comments: In XRCC4-Ala mutant; abolished phosphorylation by PRKDC; does not affect ability to bridge DNA when associated with NHEJ1/XLF phosphorylation-defective mutant; when associated with A-193, A-260, A-304, A-315, A-320, A-323 and A-327.
up seq anno comments: In XRCC4-Ala mutant; abolished phosphorylation by PRKDC; does not affect ability to bridge DNA when associated with NHEJ1/XLF phosphorylation-defective mutant; when associated with A-193, A-260, A-304, A-315, A-320, A-323 and A-328.
up seq anno comments: In XRCC4-Ala mutant; abolished phosphorylation by PRKDC; does not affect ability to bridge DNA when associated with NHEJ1/XLF phosphorylation-defective mutant; when associated with A-193, A-260, A-304, A-315, A-320, A-327 and A-328. Does not affect phosphorylation by CK2.
up seq anno comments: In XRCC4-Ala mutant; abolished phosphorylation by PRKDC; does not affect ability to bridge DNA when associated with NHEJ1/XLF phosphorylation-defective mutant; when associated with A-193, A-260, A-304, A-320, A-323, A-327 and A-328.
up seq anno comments: In XRCC4-Ala mutant; abolished phosphorylation by PRKDC; does not affect ability to bridge DNA when associated with NHEJ1/XLF phosphorylation-defective mutant; when associated with A-193, A-260, A-315, A-320, A-323, A-327 and A-328.
up seq anno comments: In XRCC4-Ala mutant; abolished phosphorylation by PRKDC; does not affect ability to bridge DNA when associated with NHEJ1/XLF phosphorylation-defective mutant; when associated with A-260, A-304, A-315, A-320, A-323, A-327 and A-328.
up seq anno comments: In XRCC4-Asp mutant; phospho-mimetic mutant; abolished ability to bridge DNA when associated with NHEJ1/XLF phospho-mimetic mutant; when associated with D-193, D-260, D-304, D-315, D-323, D-327 and D-328.
up seq anno comments: In XRCC4-Asp mutant; phospho-mimetic mutant; abolished ability to bridge DNA when associated with NHEJ1/XLF phospho-mimetic mutant; when associated with D-193, D-260, D-304, D-320, D-323, D-327 and D-328.
up seq anno comments: In XRCC4-Asp mutant; phospho-mimetic mutant; abolished ability to bridge DNA when associated with NHEJ1/XLF phospho-mimetic mutant; when associated with D-193, D-260, D-315, D-320, D-323, D-327 and D-328.

9606:BET1L
gene id: 9606:BET1L
uniprot id: A0A0C4DH16
uniprot id: Q9NYM9
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: BET1-like protein
up seq anno comments: Cytoplasmic
up seq anno comments: Helical; Anchor for type IV membrane protein
up seq anno comments: Lumenal
up seq anno comments: Phosphoserine
up seq anno comments: T-SNARE coiled-coil homology
up seq anno comments: t-SNARE coiled-coil homology
up seq anno feature ids: PRO_0000233056

9606:SPACA6
gene id: 9606:SPACA6
uniprot id: W5XKT8
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Ig-like
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Sperm acrosome membrane-associated protein 6
up seq anno feature ids: PRO_0000434003
up seq anno feature ids: VSP_057868
up seq anno feature ids: VSP_057869
up seq anno feature ids: VSP_057870
up seq anno feature ids: VSP_057871

9606:GIGYF2
gene id: 9606:GIGYF2
uniprot id: Q6Y7W6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: 4EHP-binding motif
up seq anno comments: Abolishes interaction with DDX6.
up seq anno comments: Abolishes interaction with DDX6; when associated with A-300.
up seq anno comments: Abolishes interaction with DDX6; when associated with A-306.
up seq anno comments: Abolishes interaction with EIF4E2.
up seq anno comments: Basic and acidic residues
up seq anno comments: DDX6 binding motif
up seq anno comments: Disordered
up seq anno comments: GRB10-interacting GYF protein 2
up seq anno comments: GYF
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In PARK11.
up seq anno comments: In PARK11; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: In isoform 3.
up seq anno comments: May be associated with PARK11.
up seq anno comments: N-acetylalanine
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno comments: Required for GRB10-binding
up seq anno comments: Required for interaction with SARS-CoV-2 non-structural protein 2 (nsp2)
up seq anno feature ids: PRO_0000270837
up seq anno feature ids: VAR_044439
up seq anno feature ids: VAR_044440
up seq anno feature ids: VAR_044441
up seq anno feature ids: VAR_044442
up seq anno feature ids: VAR_044443
up seq anno feature ids: VAR_044444
up seq anno feature ids: VAR_044445
up seq anno feature ids: VAR_044446
up seq anno feature ids: VAR_044447
up seq anno feature ids: VAR_044448
up seq anno feature ids: VAR_044449
up seq anno feature ids: VAR_051268
up seq anno feature ids: VAR_077935
up seq anno feature ids: VAR_077936
up seq anno feature ids: VAR_077937
up seq anno feature ids: VAR_077938
up seq anno feature ids: VAR_077939
up seq anno feature ids: VAR_077940
up seq anno feature ids: VAR_077941

9606:LCNL1
gene id: 9606:LCNL1
uniprot id: Q6ZST4
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno comments: Lipocalin-like 1 protein
up seq anno feature ids: PRO_0000348470
up seq anno feature ids: VAR_046189

9606:KRAS
gene id: 9606:KRAS
uniprot id: I1SRC5
uniprot id: P01116
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: (Microbial infection) O-linked (Glc) threonine; by P.sordellii toxin TcsL
up seq anno comments: Abolished interaction with GPR131.
up seq anno comments: Abolished palmitoylation on Cys; reduced palmitoylation on Lys residues.
up seq anno comments: Cysteine methyl ester
up seq anno comments: Effector region
up seq anno comments: Found in a patient with Costello syndrome, exhibits an increase in intrinsic and guanine nucleotide exchange factor catalyzed nucleotide exchange in combination with an impaired GTPase-activating protein-stimulated GTP hydrolysis but functional in interaction with effectors.
up seq anno comments: GTPase KRas
up seq anno comments: GTPase KRas, N-terminally processed
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Glycyl thioester intermediate
up seq anno comments: Hypervariable region
up seq anno comments: In AML; expression in 3T3 cell causes cellular transformation; expression in COS cells activates the Ras-MAPK signaling pathway; lower GTPase activity; faster GDP dissociation rate.
up seq anno comments: In CFC2 and NS3, exhibits only minor alterations in its in vitro biochemical behavior compared to wild-type protein.
up seq anno comments: In CFC2.
up seq anno comments: In CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors.
up seq anno comments: In CFC2; exhibits an increase in intrinsic and guanine nucleotide exchange factor catalyzed nucleotide exchange in combination with an impaired GTPase-activating protein-stimulated GTP hydrolysis but functional in interaction with effectors.
up seq anno comments: In GASC and JMML; also found in lung carcinoma; somatic mutation.
up seq anno comments: In GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation.
up seq anno comments: In GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer.
up seq anno comments: In GASC; also found in bladder cancer; somatic mutation.
up seq anno comments: In GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts.
up seq anno comments: In GASC; found also in a patient with Costello syndrome; exhibits only minor alterations in its in vitro biochemical behavior compared to wild-type protein.
up seq anno comments: In K-Ras-3KR; abolished lysine-palmitoylation.
up seq anno comments: In NS3.
up seq anno comments: In NS3/CFC2.
up seq anno comments: In NS3; affects activity and impairs responsiveness to GTPase activating proteins; characterized by a strong increase of both intrinsic and guanine nucleotide exchanged factor-catalyzed nucleotide exchange leading to an increased level of the activated state.
up seq anno comments: In NS3; affects activity and impairs responsiveness to GTPase activating proteins; exhibits only minor alterations in its in vitro biochemical behavior compared to wild-type protein.
up seq anno comments: In NS3; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors.
up seq anno comments: In NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction.
up seq anno comments: In OES; somatic mutation.
up seq anno comments: In OES; somatic mutation; also found in colorectal cancer samples.
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In colorectal cancer samples; somatic mutation.
up seq anno comments: In isoform 2B.
up seq anno comments: In lung cancer and bladder cancer; somatic mutation.

9606:FAU
gene id: 9606:FAU
uniprot id: P62861
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes FUBI-ribosomal protein S30 processing. Impairs 40S ribosome biogenesis.
up seq anno comments: Abolishes FUBI-ribosomal protein S30 processing; when associated with A-73. Impairs 40S ribosome biogenesis.
up seq anno comments: Abolishes FUBI-ribosomal protein S30 processing; when associated with A-74. Impairs 40S ribosome biogenesis.
up seq anno comments: Basic residues
up seq anno comments: Disordered
up seq anno comments: N6-succinyllysine
up seq anno comments: Small ribosomal subunit protein eS30
up seq anno comments: Ubiquitin-like
up seq anno comments: Ubiquitin-like FUBI-ribosomal protein eS30 fusion protein
up seq anno comments: Ubiquitin-like protein FUBI
up seq anno feature ids: PRO_0000173999
up seq anno feature ids: PRO_0000455003
up seq anno feature ids: PRO_0000455004
up seq anno feature ids: VAR_019643
up seq anno feature ids: VAR_019644

9606:POU2AF1
gene id: 9606:POU2AF1
uniprot id: Q16633
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: OCA
up seq anno comments: POU domain class 2-associating factor 1
up seq anno feature ids: PRO_0000058018
up seq anno feature ids: VAR_005521
up seq anno feature ids: VAR_005522

9606:ZDHHC5
gene id: 9606:ZDHHC5
uniprot id: Q9C0B5
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: DHHC
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: More than 50% loss of FYN-mediated phosphorylation.
up seq anno comments: More than 50% loss of activity.
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Palmitoyltransferase ZDHHC5
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine; by FYN
up seq anno comments: Phosphotyrosine; by LYN
up seq anno comments: Polar residues
up seq anno comments: S-palmitoyl cysteine intermediate
up seq anno feature ids: PRO_0000212868
up seq anno feature ids: VSP_006935

9606:RBM7
gene id: 9606:RBM7
uniprot id: G3V1T9
uniprot id: J3KPD3
uniprot id: Q9Y580
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno comments: Abrogates the interaction with 7SK small nuclear RNA (7SK); when associated with A-50 and A-52. Does not affect interaction between HEXIM1, CDK9 and 7SK small nuclear RNA (7SK); when associated with A-50 and A-52. Does not affect interaction with MEPCE and LARP7; when associated with A-50 and A-52. Decreases induction of P-TEFb-dependent DNA damage response (DDR); when associated with A-50 and A-52.
up seq anno comments: Abrogates the interaction with 7SK small nuclear RNA (7SK); when associated with A-52 and A-54. Does not affect interaction between HEXIM1, CDK9 and 7SK small nuclear RNA (7SK); when associated with A-52 and A-54. Does not affect interaction with MEPCE and LARP7; when associated with A-52 and A-54. Decreases induction of P-TEFb-dependent DNA damage response (DDR); when associated with A-52 and A-54.
up seq anno comments: Basic and acidic residues
up seq anno comments: Decreases affinity for RNA binding. Abrogates the interaction with 7SK small nuclear RNA (7SK); when associated with A-50 and A-54. Does not affect interaction between HEXIM1, CDK9 and 7SK small nuclear RNA (7SK); when associated with A-50 and A-54. Does not affect interaction with MEPCE and LARP7; when associated with A-50 and A-54. Decreases induction of P-TEFb-dependent DNA damage response (DDR); when associated with A-50 and A-54.
up seq anno comments: Decreases affinity for RNA binding. Does not affect The NEXT complex assembly. Impairs snRNA binding.
up seq anno comments: Disordered
up seq anno comments: Found in a patient with a form of spinal muscular atrophy; unknown pathological significance.
up seq anno comments: Impaired interaction with ZCCHC8; when associated with E-25.
up seq anno comments: Impaired interaction with ZCCHC8; when associated with E-29.
up seq anno comments: Impairs phosphorylation. Impairs phosphorylation; when associated with S-136.
up seq anno comments: Impairs phosphorylation. Impairs phosphorylation; when associated with S-204. Prevents PROMPTs accumulation to >50%.
up seq anno comments: N-acetylglycine
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: RNA-binding protein 7
up seq anno comments: RRM
up seq anno comments: Reduced interaction with ZCCHC8, and impaired interaction with SF3B2/SAP145; when associated with A-65.
up seq anno comments: Reduced interaction with ZCCHC8, and impaired interaction with SF3B2/SAP145; when associated with E-69.
up seq anno comments: Removed
up seq anno comments: ZCCHC8 binding
up seq anno feature ids: PRO_0000081761
up seq anno feature ids: VAR_082580

9606:UBL3
gene id: 9606:UBL3
uniprot id: O95164
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Propeptide
up seq anno labels: Sequence Conflict
up seq anno labels: Strand
up seq anno comments: Cysteine methyl ester
up seq anno comments: Removed in mature form
up seq anno comments: S-geranylgeranyl cysteine
up seq anno comments: S-palmitoyl cysteine
up seq anno comments: Ubiquitin-like
up seq anno comments: Ubiquitin-like protein 3
up seq anno feature ids: PRO_0000114862
up seq anno feature ids: PRO_0000248183

9606:FBXO31
gene id: 9606:FBXO31
uniprot id: A0A0C4DGU8
uniprot id: Q5XUX0
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: F-box
up seq anno comments: F-box only protein 31
up seq anno comments: Fails to accumulate following gamma-irradiation.
up seq anno comments: In isoform 2.
up seq anno comments: No effect following gamma-irradiation.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by ATM
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000119921
up seq anno feature ids: VSP_037469

9606:CEBPA
gene id: 9606:CEBPA
uniprot id: P49715
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic motif
up seq anno comments: CCAAT/enhancer-binding protein alpha
up seq anno comments: Decreased interaction with TRIB1.
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: In AML; no effect on expression; no effect on DNA-binding or transactivation activity.
up seq anno comments: In AML; nuclear; no effect on expression; loss of DNA-binding and transactivation activity.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Interaction with FOXO1
up seq anno comments: Leucine-zipper
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: No effect on interaction with TRIB1.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by GSK3
up seq anno comments: Phosphothreonine; by GSK3
up seq anno comments: Pro residues
up seq anno comments: Required for interaction with TRIB1
up seq anno comments: Required to functionally cooperate with SREBF1 in promoter activation
up seq anno comments: Required to induce adipocyte differentiation
up seq anno comments: Required to repress E2F1:TFDP1-mediated transcription, to inhibit cell cycle and to induce adipocyte differentiation
up seq anno comments: bZIP
up seq anno feature ids: PRO_0000076613
up seq anno feature ids: VAR_072677
up seq anno feature ids: VAR_072678
up seq anno feature ids: VSP_057547
up seq anno feature ids: VSP_057548
up seq anno feature ids: VSP_057607

9606:COX18
gene id: 9606:COX18
uniprot id: B7ZL88
uniprot id: Q8N8Q8
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transit Peptide
up seq anno labels: Transmembrane
up seq anno comments: Cytochrome c oxidase assembly protein COX18, mitochondrial
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Membrane insertase YidC/Oxa/ALB C-terminal
up seq anno comments: Mitochondrial intermembrane
up seq anno comments: Mitochondrial matrix
up seq anno comments: Mitochondrion
up seq anno feature ids: PRO_0000020354
up seq anno feature ids: VSP_022311
up seq anno feature ids: VSP_022312
up seq anno feature ids: VSP_022313
up seq anno feature ids: VSP_022314
up seq anno feature ids: VSP_022315
up seq anno feature ids: VSP_022316

9606:NLRC5
gene id: 9606:NLRC5
uniprot id: Q6MZW3
uniprot id: Q86WI3
uniprot id: Q9H6Y0
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4 and isoform 5.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: LRR 1
up seq anno comments: LRR 10
up seq anno comments: LRR 11
up seq anno comments: LRR 12
up seq anno comments: LRR 13
up seq anno comments: LRR 14
up seq anno comments: LRR 15
up seq anno comments: LRR 16
up seq anno comments: LRR 17
up seq anno comments: LRR 18
up seq anno comments: LRR 19
up seq anno comments: LRR 2
up seq anno comments: LRR 20
up seq anno comments: LRR 21
up seq anno comments: LRR 22
up seq anno comments: LRR 23
up seq anno comments: LRR 24
up seq anno comments: LRR 25
up seq anno comments: LRR 26
up seq anno comments: LRR 3
up seq anno comments: LRR 4
up seq anno comments: LRR 5
up seq anno comments: LRR 6
up seq anno comments: LRR 7
up seq anno comments: LRR 8
up seq anno comments: LRR 9
up seq anno comments: NACHT
up seq anno comments: NACHT LRR and PYD
up seq anno comments: Protein NLRC5
up seq anno feature ids: PRO_0000296189
up seq anno feature ids: VAR_034607
up seq anno feature ids: VAR_034608
up seq anno feature ids: VAR_034609
up seq anno feature ids: VAR_034610
up seq anno feature ids: VAR_034611
up seq anno feature ids: VAR_034612
up seq anno feature ids: VAR_034613
up seq anno feature ids: VAR_036388
up seq anno feature ids: VAR_060589
up seq anno feature ids: VSP_027150
up seq anno feature ids: VSP_027151
up seq anno feature ids: VSP_027152
up seq anno feature ids: VSP_027153
up seq anno feature ids: VSP_027154
up seq anno feature ids: VSP_027155
up seq anno feature ids: VSP_027156
up seq anno feature ids: VSP_027157

9606:TNFAIP6
gene id: 9606:TNFAIP6
uniprot id: P98066
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes binding to bikunin.
up seq anno comments: Abolishes binding to bikunin. Has no effect on transesterification reaction.
up seq anno comments: Abolishes binding to bikunin. Impairs binding of hyaluronan to CD44. Decreases hyaluronan-dependent lymphocyte rolling. Has no effect on transesterification reaction.
up seq anno comments: Abolishes binding to bikunin. Impairs binding to hyaluronan. Retains the ability to bind heavy chains but cannot transfer them onto hyaluronan. Impairs binding of hyaluronan to CD44. Decreases hyaluronan-dependent lymphocyte rolling.
up seq anno comments: CUB
up seq anno comments: Decreases binding of hyaluronan to CD44. Decreases hyaluronan-dependent lymphocyte rolling.
up seq anno comments: Decreases binding to heparin. Has normal binding to bikunin.
up seq anno comments: Decreases binding to heparin. Has normal binding to bikunin. Impairs binding to heparin and decreases the potentiation effect toward bikunin antiprotease activity; when associated with A-55 and A-69. Has no effect on CXCL8-induced neutrophil transmigration; when associated with A-55 and A-69.
up seq anno comments: Decreases binding to heparin. Has normal binding to bikunin. Impairs binding to heparin; when associated with A-55 and A-76. Has no effect on CXCL8-induced neutrophil transmigration; when associated with A-55 and A-76.
up seq anno comments: Decreases binding to heparin. Has normal binding to bikunin. Impairs binding to heparin; when associated with A-69 and A-76. Has no effect on CXCL8-induced neutrophil transmigration; when associated with A-69 and A-76.
up seq anno comments: Has no significant effect on hyaluronan binding to CD44 or hyaluronan-dependent lymphocyte rolling.
up seq anno comments: Impairs binding of hyaluronan to CD44. Decreases hyaluronan-dependent lymphocyte rolling.
up seq anno comments: Increases binding of hyaluronan to CD44. Has no significant effect on hyaluronan-dependent lymphocyte rolling.
up seq anno comments: Link
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Reduces the binding affinity to calcium ions. Abolishes the interaction with heavy chain ITIH1.
up seq anno comments: Tumor necrosis factor-inducible gene 6 protein
up seq anno feature ids: PRO_0000026692
up seq anno feature ids: VAR_013005

9606:ZNF169
gene id: 9606:ZNF169
uniprot id: Q14929
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11; degenerate
up seq anno comments: C2H2-type 12
up seq anno comments: C2H2-type 13; degenerate
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: Disordered
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 169
up seq anno feature ids: PRO_0000047438
up seq anno feature ids: VAR_024198
up seq anno feature ids: VAR_024199
up seq anno feature ids: VAR_059065
up seq anno feature ids: VAR_059066
up seq anno feature ids: VAR_059067

9606:MINDY3
gene id: 9606:MINDY3
uniprot id: Q9H8M7
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: Nucleophile
up seq anno comments: Phosphoserine
up seq anno comments: Proton acceptor
up seq anno comments: Ubiquitin carboxyl-terminal hydrolase MINDY-3
up seq anno feature ids: PRO_0000317560
up seq anno feature ids: VSP_031039

9606:SLC51B
gene id: 9606:SLC51B
uniprot id: Q86UW2
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Organic solute transporter subunit beta
up seq anno feature ids: PRO_0000331554

9606:GOSR2
gene id: 9606:GOSR2
uniprot id: A0A1W2PQE0
uniprot id: A0A1W2PR02
uniprot id: A0A1W2PRL0
uniprot id: I3NI02
uniprot id: O14653
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Golgi SNAP receptor complex member 2
up seq anno comments: Helical
up seq anno comments: Helical; Anchor for type IV membrane protein
up seq anno comments: In EPM6 and MYOS; no effect on protein stability; loss of localization to the cis-Golgi network membrane; loss of function; unable to rescue the yeast strain lacking the ortholog Bos1.
up seq anno comments: In MYOS.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform B.
up seq anno comments: IxM motif; signal for cargo packaging into COPII-coated vesicles
up seq anno comments: Loss of interaction with SEC24C.
up seq anno comments: N-acetylmethionine
up seq anno comments: Vesicular
up seq anno feature ids: PRO_0000212549
up seq anno feature ids: VAR_024471
up seq anno feature ids: VAR_065833
up seq anno feature ids: VAR_087912
up seq anno feature ids: VAR_087913
up seq anno feature ids: VSP_001829
up seq anno feature ids: VSP_043200

9606:CSF1R
gene id: 9606:CSF1R
uniprot id: P07333
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Abolishes down-regulation of activated CSF1R.
up seq anno comments: Activation loop
up seq anno comments: Constitutive kinase activity.
up seq anno comments: Constitutive kinase activity. Loss of inhibition by imatinib.
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Ig-like C2-type 1
up seq anno comments: Ig-like C2-type 2
up seq anno comments: Ig-like C2-type 3
up seq anno comments: Ig-like C2-type 4
up seq anno comments: Ig-like C2-type 5
up seq anno comments: Impairs degradation of activated CSF1R.
up seq anno comments: In BANDDOS.
up seq anno comments: In BANDDOS; impairs phosphorylation of JNK kinases upon stimulation with CSF1.
up seq anno comments: In HDLS1.
up seq anno comments: In HDLS1; impairs autophosphorylation upon stimulation with CSF1.
up seq anno comments: In a lung squamous cell carcinoma sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Macrophage colony-stimulating factor 1 receptor
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine; by autocatalysis
up seq anno comments: Polar residues
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Reduced kinase activity. Reduced interaction with SRC, FYN and YES1.
up seq anno comments: Regulatory juxtamembrane domain
up seq anno feature ids: PRO_0000016765
up seq anno feature ids: VAR_011953
up seq anno feature ids: VAR_042038
up seq anno feature ids: VAR_042039
up seq anno feature ids: VAR_042040

9606:NR0B1
gene id: 9606:NR0B1
uniprot id: F1D8P4
uniprot id: P51843
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: 1
up seq anno comments: 2
up seq anno comments: 3
up seq anno comments: 4 X 67 AA tandem repeats
up seq anno comments: 4; truncated
up seq anno comments: AF-2 motif
up seq anno comments: In AHC.
up seq anno comments: In AHC; impairs RNA-binding activity.
up seq anno comments: In AHC; impairs transcriptional silencing of the StAR promoter.
up seq anno comments: In AHC; mild phenotype.
up seq anno comments: In AHC; results in a severe loss of repressor activity.
up seq anno comments: In AHC; the patient presents an inappropriate tall stature and renal ectopy.
up seq anno comments: In isoform 2.
up seq anno comments: LXXLL motif 1
up seq anno comments: LXXLL motif 2
up seq anno comments: LXXLL motif 3
up seq anno comments: NR LBD
up seq anno comments: Nuclear receptor subfamily 0 group B member 1
up seq anno comments: Strongly reduces homodimerization and interaction with NR0B2.
up seq anno feature ids: PRO_0000053748
up seq anno feature ids: VAR_004738
up seq anno feature ids: VAR_004739
up seq anno feature ids: VAR_004740
up seq anno feature ids: VAR_004741
up seq anno feature ids: VAR_004742
up seq anno feature ids: VAR_004743
up seq anno feature ids: VAR_004744
up seq anno feature ids: VAR_004745
up seq anno feature ids: VAR_004746
up seq anno feature ids: VAR_018300
up seq anno feature ids: VAR_018301
up seq anno feature ids: VAR_018302
up seq anno feature ids: VAR_018303
up seq anno feature ids: VAR_018304
up seq anno feature ids: VAR_018305
up seq anno feature ids: VAR_018306
up seq anno feature ids: VAR_031079
up seq anno feature ids: VAR_031080
up seq anno feature ids: VAR_031081
up seq anno feature ids: VSP_023557
up seq anno feature ids: VSP_023558

9606:CCDC115
gene id: 9606:CCDC115
uniprot id: B8ZZ99
uniprot id: Q96NT0
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Coiled-coil domain-containing protein 115
up seq anno comments: Disordered
up seq anno comments: In CDG2O.
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000279403
up seq anno feature ids: VAR_075752
up seq anno feature ids: VAR_075753
up seq anno feature ids: VSP_056115
up seq anno feature ids: VSP_056116

9606:NABP2
gene id: 9606:NABP2
uniprot id: Q9BQ15
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: DNA Binding
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Disordered
up seq anno comments: Enhances ATM-dependent signaling.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of phosphorylation by ATM.
up seq anno comments: OB
up seq anno comments: Phosphothreonine; by ATM
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: SOSS complex subunit B1
up seq anno feature ids: PRO_0000333958
up seq anno feature ids: VSP_033604

9606:ZNF227
gene id: 9606:ZNF227
uniprot id: B7Z6M2
uniprot id: Q658S5
uniprot id: Q86WZ6
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Non-terminal Residue
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 12
up seq anno comments: C2H2-type 13
up seq anno comments: C2H2-type 14
up seq anno comments: C2H2-type 15
up seq anno comments: C2H2-type 16
up seq anno comments: C2H2-type 17
up seq anno comments: C2H2-type 18
up seq anno comments: C2H2-type 19
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: In isoform 2.
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 227
up seq anno feature ids: PRO_0000047468
up seq anno feature ids: VSP_056544

9606:OR6V1
gene id: 9606:OR6V1
uniprot id: A0A126GWQ4
uniprot id: Q8N148
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 6V1
up seq anno feature ids: PRO_0000150639
up seq anno feature ids: VAR_034251
up seq anno feature ids: VAR_034252
up seq anno feature ids: VAR_034253

9606:STAU1
gene id: 9606:STAU1
uniprot id: B3KRE0
uniprot id: O95793
uniprot id: Q59F99
uniprot id: Q6PJX3
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Asymmetric dimethylarginine
up seq anno comments: Asymmetric dimethylarginine; alternate
up seq anno comments: Basic and acidic residues
up seq anno comments: DRBM
up seq anno comments: DRBM 1
up seq anno comments: DRBM 2
up seq anno comments: DRBM 3
up seq anno comments: Disordered
up seq anno comments: Double-stranded RNA-binding protein Staufen homolog 1
up seq anno comments: In isoform 3.
up seq anno comments: In isoform Short and isoform 3.
up seq anno comments: N-acetylserine
up seq anno comments: Omega-N-methylarginine; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000072243
up seq anno feature ids: PRO_5004252468
up seq anno feature ids: VSP_004434
up seq anno feature ids: VSP_043701

9606:RAMAC
gene id: 9606:RAMAC
uniprot id: Q9BTL3
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Interaction with RNMT
up seq anno comments: N-acetylthreonine
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: RNA guanine-N7 methyltransferase activating subunit
up seq anno comments: RNA-binding
up seq anno comments: RNMT-activating domain
up seq anno comments: Removed
up seq anno feature ids: PRO_0000089983

9606:ARHGAP12
gene id: 9606:ARHGAP12
uniprot id: Q1RLN5
uniprot id: Q8IWW6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: In isoform 3.
up seq anno comments: PH
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: Rho GTPase-activating protein 12
up seq anno comments: Rho-GAP
up seq anno comments: SH3
up seq anno comments: WW
up seq anno comments: WW 1
up seq anno comments: WW 2
up seq anno feature ids: PRO_0000056713
up seq anno feature ids: VAR_024454
up seq anno feature ids: VSP_010326
up seq anno feature ids: VSP_010327
up seq anno feature ids: VSP_010328

9606:BOLA2
gene id: 9606:BOLA2
uniprot id: Q9H3K6
up seq anno parent labels: Chain
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Splice Variant
up seq anno comments: BolA-like protein 2
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylmethionine
up seq anno feature ids: PRO_0000201236
up seq anno feature ids: VSP_010092
up seq anno feature ids: VSP_010093

9606:LITAF
gene id: 9606:LITAF
uniprot id: Q99732
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Abolishes association with cytoplasmic vesicle membranes.
up seq anno comments: Abolishes interaction with NEDD4.
up seq anno comments: Abolishes interaction with TSG101.
up seq anno comments: Abolishes interaction with WWOX. Abolishes interaction with NEDD4. Abolishes interaction with NEDD4 and impairs location at endosomes; when associated with A-61.
up seq anno comments: Decreases protein stability and association with early endosome membranes. Impaired function in targeting endocytosed proteins for lysosomal degradation.
up seq anno comments: Disordered
up seq anno comments: Found as a somatic mutation in a EMPD primary tumor.
up seq anno comments: Impaired function in targeting endocytosed proteins for lysosomal degradation.
up seq anno comments: In CMT1C.
up seq anno comments: In CMT1C; decreases protein stability and association with early endosome membranes; impaired function in targeting endocytosed proteins for lysosomal degradation; does not abolish interaction with NEDD4 and TSG101.
up seq anno comments: In CMT1C; does not abolish interaction with NEDD4 and TSG101.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In one EMPD primary tumor; somatic mutation.
up seq anno comments: LITAF
up seq anno comments: Lipopolysaccharide-induced tumor necrosis factor-alpha factor
up seq anno comments: Membrane-binding amphipathic helix
up seq anno comments: No effect on interaction with WWOX. No effect on interaction with NEDD4. Abolishes interaction with NEDD4 and impairs location at endosomes; when associated with A-23.
up seq anno comments: No effect on location at endosomes, but impairs protein stability.
up seq anno comments: PPxY motif
up seq anno comments: PSAP motif; important for interaction with TSG101
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000084440
up seq anno feature ids: VAR_024014
up seq anno feature ids: VAR_024015
up seq anno feature ids: VAR_024016
up seq anno feature ids: VAR_024017
up seq anno feature ids: VAR_024018
up seq anno feature ids: VAR_024019
up seq anno feature ids: VAR_024020
up seq anno feature ids: VAR_082859
up seq anno feature ids: VSP_016461
up seq anno feature ids: VSP_045701

9606:FRY
gene id: 9606:FRY
uniprot id: Q5TBA9
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine; by CDK1
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: Protein furry homolog
up seq anno feature ids: PRO_0000281674
up seq anno feature ids: VAR_053831

9606:SBDS
gene id: 9606:SBDS
uniprot id: A0A0S2Z5I7
uniprot id: Q9Y3A5
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: In SDS1.
up seq anno comments: In SDS1; strongly reduced release of EIF6 from pre-60S ribosome subunits.
up seq anno comments: In SDS1; unknown pathological significance.
up seq anno comments: N-acetylserine
up seq anno comments: Removed
up seq anno comments: Ribosome maturation protein SBDS
up seq anno comments: Ribosome maturation protein SDO1/SBDS C-terminal
up seq anno comments: Ribosome maturation protein SDO1/SBDS N-terminal
up seq anno comments: Ribosome maturation protein SDO1/SBDS central
up seq anno comments: Strongly reduced release of EIF6 from pre-60S ribosome subunits.
up seq anno feature ids: PRO_0000123762
up seq anno feature ids: VAR_015390
up seq anno feature ids: VAR_015391
up seq anno feature ids: VAR_015392
up seq anno feature ids: VAR_015393
up seq anno feature ids: VAR_015394
up seq anno feature ids: VAR_015395
up seq anno feature ids: VAR_015396
up seq anno feature ids: VAR_071673

9606:CELF2
gene id: 9606:CELF2
uniprot id: A0A0J9YX66
uniprot id: A0A0J9YXJ0
uniprot id: A0A1B0GU44
uniprot id: A0A1B0GUN8
uniprot id: B4DDE7
uniprot id: B4DIB6
uniprot id: B4DT00
uniprot id: B4DZ01
uniprot id: E9PC62
uniprot id: O95319
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: CUGBP Elav-like family member 2
up seq anno comments: Disordered
up seq anno comments: In DEE97; mislocalized to the cytoplasm.
up seq anno comments: In DEE97; unknown pathological significance; mislocalized to the cytoplasm.
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 2 and isoform 5.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 5.
up seq anno comments: Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion
up seq anno comments: Polar residues
up seq anno comments: RRM
up seq anno comments: RRM 1
up seq anno comments: RRM 2
up seq anno comments: RRM 3
up seq anno feature ids: PRO_0000295189
up seq anno feature ids: VAR_052202
up seq anno feature ids: VAR_086490
up seq anno feature ids: VAR_086491
up seq anno feature ids: VSP_026796
up seq anno feature ids: VSP_026797
up seq anno feature ids: VSP_026798
up seq anno feature ids: VSP_026799
up seq anno feature ids: VSP_026800

9606:TMEM108
gene id: 9606:TMEM108
uniprot id: B3KT64
uniprot id: Q6UXF1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with CYFIP2
up seq anno comments: Interaction with DST (isoform 1)
up seq anno comments: Interaction with SH3GL2
up seq anno comments: Polar residues
up seq anno comments: Transmembrane protein 108
up seq anno feature ids: PRO_0000243913
up seq anno feature ids: PRO_5014567664
up seq anno feature ids: VAR_051427
up seq anno feature ids: VSP_019494
up seq anno feature ids: VSP_019495

9606:PHACTR4
gene id: 9606:PHACTR4
uniprot id: Q8IZ21
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Phosphatase and actin regulator 4
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: RPEL 1
up seq anno comments: RPEL 2
up seq anno comments: RPEL 3
up seq anno feature ids: PRO_0000287306
up seq anno feature ids: VSP_025436
up seq anno feature ids: VSP_025437
up seq anno feature ids: VSP_039730
up seq anno feature ids: VSP_039731

9606:INTS2
gene id: 9606:INTS2
uniprot id: Q9H0H0
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Helical
up seq anno comments: Integrator complex subunit 2
up seq anno feature ids: PRO_0000236099
up seq anno feature ids: VAR_049628

9606:C16orf86
gene id: 9606:C16orf86
uniprot id: Q6ZW13
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Polar residues
up seq anno comments: Uncharacterized protein C16orf86
up seq anno feature ids: PRO_0000318961

9606:LRP3
gene id: 9606:LRP3
uniprot id: O75074
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: CUB 1
up seq anno comments: CUB 2
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: LDL-receptor class A 1
up seq anno comments: LDL-receptor class A 2
up seq anno comments: LDL-receptor class A 3
up seq anno comments: LDL-receptor class A 4
up seq anno comments: Low-density lipoprotein receptor-related protein 3
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000017323
up seq anno feature ids: VAR_018171
up seq anno feature ids: VAR_049764

9606:PRDX6
gene id: 9606:PRDX6
uniprot id: P30041
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Site
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Cysteine sulfenic acid (-SOH) intermediate; for peroxidase activity
up seq anno comments: For phospholipase activity
up seq anno comments: Important for phospholipase activity
up seq anno comments: Loss of peroxidase activity, but no effect on phospholipase activity.
up seq anno comments: Loss of phospholipase activity, but no effect on peroxidase activity.
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: Peroxiredoxin-6
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by MAPK
up seq anno comments: Phosphotyrosine
up seq anno comments: Removed
up seq anno comments: Required and sufficient for targeting to lysosomes and lamellar bodies
up seq anno comments: Thioredoxin
up seq anno feature ids: PRO_0000135102

9606:MISP3
gene id: 9606:MISP3
uniprot id: Q96FF7
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Uncharacterized protein MISP3
up seq anno feature ids: PRO_0000318963
up seq anno feature ids: VAR_039392

9606:ZNF660
gene id: 9606:ZNF660
uniprot id: Q6AZW8
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: Disordered
up seq anno comments: Phosphoserine
up seq anno comments: Zinc finger protein 660
up seq anno feature ids: PRO_0000047701

9606:GUSB
gene id: 9606:GUSB
uniprot id: P08236
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Beta-glucuronidase
up seq anno comments: In MPS7.
up seq anno comments: In MPS7; loss of activity.
up seq anno comments: In MPS7; very mild phenotype.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Likely benign variant; associated with beta-glucuronidase pseudodeficiency with no clinical consequences; reduced activity levels.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Proton donor
up seq anno feature ids: PRO_0000012161
up seq anno feature ids: VAR_003196
up seq anno feature ids: VAR_003197
up seq anno feature ids: VAR_003198
up seq anno feature ids: VAR_003199
up seq anno feature ids: VAR_003200
up seq anno feature ids: VAR_003201
up seq anno feature ids: VAR_016179
up seq anno feature ids: VAR_037914
up seq anno feature ids: VAR_037915
up seq anno feature ids: VAR_037916
up seq anno feature ids: VAR_037917
up seq anno feature ids: VAR_037918
up seq anno feature ids: VAR_037919
up seq anno feature ids: VAR_037920
up seq anno feature ids: VAR_037921
up seq anno feature ids: VAR_037922
up seq anno feature ids: VAR_037923
up seq anno feature ids: VAR_037924
up seq anno feature ids: VAR_037925
up seq anno feature ids: VAR_037926
up seq anno feature ids: VAR_037927
up seq anno feature ids: VAR_037928
up seq anno feature ids: VAR_037929
up seq anno feature ids: VAR_037930
up seq anno feature ids: VAR_037931
up seq anno feature ids: VAR_037932
up seq anno feature ids: VAR_037933
up seq anno feature ids: VAR_037934
up seq anno feature ids: VAR_037935
up seq anno feature ids: VAR_037936
up seq anno feature ids: VAR_055884
up seq anno feature ids: VAR_058511
up seq anno feature ids: VAR_058512
up seq anno feature ids: VAR_058513
up seq anno feature ids: VAR_058514
up seq anno feature ids: VAR_058515
up seq anno feature ids: VAR_058516
up seq anno feature ids: VAR_058517
up seq anno feature ids: VAR_058518
up seq anno feature ids: VAR_058519
up seq anno feature ids: VSP_001799
up seq anno feature ids: VSP_054830

9606:FAM83D
gene id: 9606:FAM83D
uniprot id: Q9H4H8
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Abolishes interaction with DYNLL1 and no effect on interaction with HMMR; when associated with 391-A--A-393 and 409-A--A-411.
up seq anno comments: Abolishes interaction with DYNLL1 and no effect on interaction with HMMR; when associated with 391-A--A-393 and 442-A--A-444.
up seq anno comments: Abolishes interaction with DYNLL1 and no effect on interaction with HMMR; when associated with 409-A--A-411 and 442-A--A-444.
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Protein FAM83D
up seq anno comments: Required for interaction with KIF22 and function in chromosome congression
up seq anno feature ids: PRO_0000079460
up seq anno feature ids: VSP_036446

9606:SPATA31F3
gene id: 9606:SPATA31F3
uniprot id: A0A0U1RRK5
uniprot id: A6NFA0
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Protein SPATA31F3
up seq anno comments: SPATA31F3-like
up seq anno feature ids: PRO_0000319052

9606:PRPF18
gene id: 9606:PRPF18
uniprot id: Q99633
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylmethionine
up seq anno comments: Pre-mRNA-splicing factor 18
up seq anno feature ids: PRO_0000058582
up seq anno feature ids: VSP_008327
up seq anno feature ids: VSP_008328

9606:DCAF16
gene id: 9606:DCAF16
uniprot id: Q9NXF7
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Acidic residues
up seq anno comments: DDB1- and CUL4-associated factor 16
up seq anno comments: Disordered
up seq anno comments: N6-acetyllysine
up seq anno feature ids: PRO_0000301964
up seq anno feature ids: VAR_034917
up seq anno feature ids: VAR_034918

9606:VEGFB
gene id: 9606:VEGFB
uniprot id: P49765
uniprot id: Q7LAP4
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: In isoform VEGF-B167.
up seq anno comments: Interchain
up seq anno comments: Platelet-derived growth factor (PDGF) family profile
up seq anno comments: Vascular endothelial growth factor B
up seq anno feature ids: PRO_0000023398
up seq anno feature ids: PRO_5014310907
up seq anno feature ids: VSP_004639
up seq anno feature ids: VSP_004640

9606:CTNNA2
gene id: 9606:CTNNA2
uniprot id: F6KRI5
uniprot id: P26232
uniprot id: Q49AD3
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Basic and acidic residues
up seq anno comments: Catenin alpha-2
up seq anno comments: Disordered
up seq anno comments: In CDCBM9.
up seq anno comments: In CDCBM9; loss-of-function variant resulting in decreased neurite length and impaired neuronal migration in patient-derived nerve cells; no protein detected in patient cells.
up seq anno comments: In CDCBM9; unknown pathological significance.
up seq anno comments: In isoform 2, isoform 4, isoform 5 and isoform 6.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000064263
up seq anno feature ids: VAR_081335
up seq anno feature ids: VAR_081336
up seq anno feature ids: VAR_081337
up seq anno feature ids: VSP_020337
up seq anno feature ids: VSP_038005
up seq anno feature ids: VSP_038006
up seq anno feature ids: VSP_038007
up seq anno feature ids: VSP_038008
up seq anno feature ids: VSP_038009

9606:ZNF552
gene id: 9606:ZNF552
uniprot id: B7Z1H1
uniprot id: Q9H707
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 2; degenerate
up seq anno comments: C2H2-type 3; degenerate
up seq anno comments: C2H2-type 4; degenerate
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 552
up seq anno feature ids: PRO_0000286810
up seq anno feature ids: VAR_032177

9606:ZBTB7B
gene id: 9606:ZBTB7B
uniprot id: O15156
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: BTB
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4; atypical
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
up seq anno comments: In isoform 2.
up seq anno comments: N6-acetyllysine; by EP300; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Pro residues
up seq anno comments: Required for interaction with and acetylation by EP300
up seq anno comments: Zinc finger and BTB domain-containing protein 7B
up seq anno feature ids: PRO_0000047719
up seq anno feature ids: VSP_044721

9606:NTRK2
gene id: 9606:NTRK2
uniprot id: A0A8I5KR47
uniprot id: Q16620
uniprot id: Q548C2
uniprot id: Q5VWE5
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: BDNF/NT-3 growth factors receptor
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Ig-like
up seq anno comments: Ig-like C2-type 1
up seq anno comments: Ig-like C2-type 2
up seq anno comments: In DEE58; unknown pathological significance.
up seq anno comments: In OBHD.
up seq anno comments: In OBHD; expressed normally on the cell surface; results in markedly impaired ligand-induced phosphorylation as well as impaired downstream MAPK1 phosphorylation.
up seq anno comments: In OBHD; unknown pathological significance.
up seq anno comments: In a lung adenocarcinoma sample; somatic mutation.
up seq anno comments: In a lung carcinoma sample; somatic mutation.
up seq anno comments: In isoform 4 and isoform 5.
up seq anno comments: In isoform TrkB-N-T1.
up seq anno comments: In isoform TrkB-T-Shc and isoform 5.
up seq anno comments: In isoform TrkB-T-TK.
up seq anno comments: In isoform TrkB-T1 and isoform TrkB-N-T1.
up seq anno comments: Interaction with MAPK8IP3/JIP3
up seq anno comments: Interaction with PLCG1
up seq anno comments: Interaction with SH2D1A
up seq anno comments: Interaction with SHC1
up seq anno comments: LRR 1
up seq anno comments: LRR 2
up seq anno comments: LRRCT
up seq anno comments: LRRNT
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphotyrosine; by autocatalysis
up seq anno comments: Polar residues
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Tyrosine-protein kinase receptor

9606:IPO5
gene id: 9606:IPO5
uniprot id: O00410
uniprot id: Q9BVS9
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: HEAT 1
up seq anno comments: HEAT 10
up seq anno comments: HEAT 11
up seq anno comments: HEAT 12
up seq anno comments: HEAT 13
up seq anno comments: HEAT 14
up seq anno comments: HEAT 15
up seq anno comments: HEAT 16
up seq anno comments: HEAT 17
up seq anno comments: HEAT 18
up seq anno comments: HEAT 19
up seq anno comments: HEAT 2
up seq anno comments: HEAT 20
up seq anno comments: HEAT 21
up seq anno comments: HEAT 22
up seq anno comments: HEAT 23
up seq anno comments: HEAT 24
up seq anno comments: HEAT 3
up seq anno comments: HEAT 4
up seq anno comments: HEAT 5
up seq anno comments: HEAT 6
up seq anno comments: HEAT 7
up seq anno comments: HEAT 8
up seq anno comments: HEAT 9
up seq anno comments: Importin N-terminal
up seq anno comments: Importin-5
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Ran-GTP binding
up seq anno comments: Removed
up seq anno feature ids: PRO_0000120771
up seq anno feature ids: VAR_012029
up seq anno feature ids: VAR_012030
up seq anno feature ids: VAR_012031
up seq anno feature ids: VAR_012032
up seq anno feature ids: VAR_012033
up seq anno feature ids: VSP_037587
up seq anno feature ids: VSP_037774

9606:ELOVL6
gene id: 9606:ELOVL6
uniprot id: Q9H5J4
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Transmembrane
up seq anno comments: Elongation of very long chain fatty acids protein 6
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000282845

9606:INPP4A
gene id: 9606:INPP4A
uniprot id: Q96PE3
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: C2
up seq anno comments: Complete loss of lipid phosphatase activity.
up seq anno comments: Does not rescue the wortmannin-induced dilation of endosomes due to accumulation of (PtdIns(3,4)P2).
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Inositol polyphosphate-4-phosphatase type I A
up seq anno comments: Phosphocysteine intermediate
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno feature ids: PRO_0000190232
up seq anno feature ids: VAR_059359
up seq anno feature ids: VSP_015240
up seq anno feature ids: VSP_015241
up seq anno feature ids: VSP_015242

9606:DTX3L
gene id: 9606:DTX3L
uniprot id: Q8TDB6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Disordered
up seq anno comments: E3 ubiquitin-protein ligase DTX3L
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of catalytic activity but does not affect its capacity to inhibit ITCH catalytic activity; when associated with A-561 and A-596.
up seq anno comments: Loss of catalytic activity but does not affect its capacity to inhibit ITCH catalytic activity; when associated with A-561 and A-599.
up seq anno comments: Loss of catalytic activity but does not affect its capacity to inhibit ITCH catalytic activity; when associated with A-596 and A-599.
up seq anno comments: Loss of catalytic activity. Loss of histone H2B ubiquitination. No effect on STAT1 phosphorylation and on the interaction with PARP9 and STAT1.
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: RING-type
up seq anno comments: Removed
up seq anno feature ids: PRO_0000219087
up seq anno feature ids: VAR_036098
up seq anno feature ids: VAR_048895
up seq anno feature ids: VAR_048896
up seq anno feature ids: VSP_038522

9606:TACO1
gene id: 9606:TACO1
uniprot id: Q9BSH4
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: Translational activator of cytochrome c oxidase 1
up seq anno feature ids: PRO_0000175942
up seq anno feature ids: VAR_052934

9606:RIPK2
gene id: 9606:RIPK2
uniprot id: A0A0S2Z4Z8
uniprot id: O43353
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: (Microbial infection) O-acetylserine; by Yersinia YopJ
up seq anno comments: (Microbial infection) O-acetylserine; by Yersinia YopJ; alternate
up seq anno comments: (Microbial infection) O-acetylthreonine; by Yersinia YopJ
up seq anno comments: Abolished ability to activate NF-kappa-B downstream of NOD2.
up seq anno comments: Abolished activation of NF-kappa-B.
up seq anno comments: Abolished ubiquitination by ZNRF4.
up seq anno comments: Abolishes interaction with NOD1.
up seq anno comments: Abolishes interaction with NOD1. Abolished activation of NF-kappa-B.
up seq anno comments: Abolishes protein-kinase activity without preventing ability to activate NF-kappa-B downstream of NOD2.
up seq anno comments: Abolishes protein-kinase activity. Reduces FAS-mediated apoptosis.
up seq anno comments: Activation segment (AS)
up seq anno comments: CARD
up seq anno comments: Decreased homooligomerization and ability to transmit NOD2 signaling.
up seq anno comments: Decreased interaction with NGFR.
up seq anno comments: Decreased phosphorylation and activation. Abolished phosphorylation by LRRK2.
up seq anno comments: Decreased polyubiquitination.
up seq anno comments: Decreases interaction with NOD2.
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Helix alphaC
up seq anno comments: Impaired interaction with NOD2 and decreased homooligomerization and ability to transmit NOD2 signaling.
up seq anno comments: In isoform 2.
up seq anno comments: Increased activation of NF-kappa-B.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; alternate
up seq anno comments: Phosphoserine; by autocatalysis and LRRK2; alternate
up seq anno comments: Phosphotyrosine; by CSK
up seq anno comments: Phosphotyrosine; by autocatalysis
up seq anno comments: Polar residues
up seq anno comments: Prevents phosphorylation. Reduces serine and threonine phosphorylation of ARHGEF2.
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Receptor-interacting serine/threonine-protein kinase 2
up seq anno comments: Reduced formation of filaments and activation of NF-kappa-B.
up seq anno comments: Reduced ubiquitination by XIAP and activation of NF-kappa-B; when associated with R-410.
up seq anno comments: Reduced ubiquitination by XIAP and activation of NF-kappa-B; when associated with R-538.
up seq anno comments: Strongly decreased activation of NF-kappa-B.
up seq anno comments: Strongly decreased activation of NF-kappa-B. Does not affect activation of NF-kappa-B; when associated with E-458.
up seq anno comments: Strongly decreased activation of NF-kappa-B. Does not affect activation of NF-kappa-B; when associated with R-445.

9606:PCBP2
gene id: 9606:PCBP2
uniprot id: A0A384N6B9
uniprot id: Q15366
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Cleavage, by viral proteinase 3CD
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2, isoform 3, isoform 4 and isoform 5.
up seq anno comments: In isoform 3, isoform 4, isoform 6 and isoform 7.
up seq anno comments: In isoform 4, isoform 5, isoform 7 and isoform 8.
up seq anno comments: In isoform 7 and isoform 8.
up seq anno comments: K Homology
up seq anno comments: KH 1
up seq anno comments: KH 2
up seq anno comments: KH 3
up seq anno comments: Phosphoserine
up seq anno comments: Poly(rC)-binding protein 2
up seq anno feature ids: PRO_0000050090
up seq anno feature ids: VSP_042833
up seq anno feature ids: VSP_043161
up seq anno feature ids: VSP_043362
up seq anno feature ids: VSP_054045

9606:ZNF613
gene id: 9606:ZNF613
uniprot id: Q6PF04
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 12
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: In isoform 2.
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 613
up seq anno feature ids: PRO_0000234597
up seq anno feature ids: VAR_028096
up seq anno feature ids: VAR_028097
up seq anno feature ids: VAR_028098
up seq anno feature ids: VAR_057428
up seq anno feature ids: VAR_057429
up seq anno feature ids: VSP_018388

9606:CASP1
gene id: 9606:CASP1
uniprot id: A8K249
uniprot id: A8K257
uniprot id: P29466
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Propeptide
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes cleavage of Gasdermin-D (GSDMD).
up seq anno comments: CARD
up seq anno comments: Caspase family p10
up seq anno comments: Caspase family p20
up seq anno comments: Caspase-1 subunit p10
up seq anno comments: Caspase-1 subunit p20
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: In IDL(uncl); abolished cleavage in the interdomain region; when associated with 315-N-N-316.
up seq anno comments: In IDL(uncl); abolished cleavage in the interdomain region; when associated with N-297.
up seq anno comments: In isoform Beta.
up seq anno comments: In isoform Delta.
up seq anno comments: In isoform Epsilon.
up seq anno comments: In isoform Gamma and isoform Delta.
up seq anno comments: Interdomain linker
up seq anno comments: Loss of protease activity. Loss of SPHK2 cleavage and release in apoptotic cells.
up seq anno comments: Mediates autoprocessing but is unable to interact with Gasdermin-D (GSDMD) and mediate its cleavage.
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000004521
up seq anno feature ids: PRO_0000004522
up seq anno feature ids: PRO_0000004523
up seq anno feature ids: PRO_0000004524
up seq anno feature ids: VAR_048615
up seq anno feature ids: VSP_000797
up seq anno feature ids: VSP_000798
up seq anno feature ids: VSP_000799
up seq anno feature ids: VSP_000800

9606:SLFN13
gene id: 9606:SLFN13
uniprot id: B3KV92
uniprot id: Q68D06
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Abolished endoribonuclease activity.
up seq anno comments: In isoform 2.
up seq anno comments: N'-domain region
up seq anno comments: Reduced endoribonuclease activity.
up seq anno comments: Schlafen family member 13
up seq anno comments: Schlafen group 3-like DNA/RNA helicase
up seq anno feature ids: PRO_0000282985
up seq anno feature ids: VAR_031449
up seq anno feature ids: VAR_031450
up seq anno feature ids: VAR_031451
up seq anno feature ids: VAR_053878
up seq anno feature ids: VAR_053879
up seq anno feature ids: VSP_024273

9606:CSRP3
gene id: 9606:CSRP3
uniprot id: A2TDB8
uniprot id: P50461
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Cysteine and glycine-rich protein 3
up seq anno comments: In CMD1M; unknown pathological significance; decreases interaction with TCAP.
up seq anno comments: In CMD1M; unknown pathological significance; increases PKC/PRKCA activity.
up seq anno comments: In CMH12; decreases PKC/PRKCA activity.
up seq anno comments: In CMH12; decreases interaction with NRAP and ACTN2, decreases zinc-binding and impairs protein stability, decreases PKC/PRKCA activity.
up seq anno comments: In isoform 2.
up seq anno comments: Increases PKC/PRKCA activity.
up seq anno comments: Interaction with CLF2 and isoform 2
up seq anno comments: Interaction with TCAP
up seq anno comments: LIM zinc-binding
up seq anno comments: LIM zinc-binding 1
up seq anno comments: LIM zinc-binding 2
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000075727
up seq anno feature ids: VAR_015401
up seq anno feature ids: VAR_045932
up seq anno feature ids: VAR_045933
up seq anno feature ids: VAR_045934
up seq anno feature ids: VAR_076805
up seq anno feature ids: VSP_058575
up seq anno feature ids: VSP_058576

9606:LTB
gene id: 9606:LTB
uniprot id: Q06643
uniprot id: Q5STB2
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In isoform 2.
up seq anno comments: Lymphotoxin-beta
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: TNF family profile
up seq anno feature ids: PRO_0000185486
up seq anno feature ids: VAR_013025
up seq anno feature ids: VAR_013026
up seq anno feature ids: VAR_016331
up seq anno feature ids: VAR_016332
up seq anno feature ids: VAR_029145
up seq anno feature ids: VSP_006441
up seq anno feature ids: VSP_006442

9606:GFM2
gene id: 9606:GFM2
uniprot id: Q969S9
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: In COXPD39.
up seq anno comments: In COXPD39; unknown pathological significance; may affect splicing.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: Ribosome-releasing factor 2, mitochondrial
up seq anno comments: tr-type G
up seq anno feature ids: PRO_0000007450
up seq anno feature ids: VAR_053983
up seq anno feature ids: VAR_053984
up seq anno feature ids: VAR_053985
up seq anno feature ids: VAR_060200
up seq anno feature ids: VAR_060201
up seq anno feature ids: VAR_060202
up seq anno feature ids: VAR_082193
up seq anno feature ids: VAR_082194
up seq anno feature ids: VAR_082195
up seq anno feature ids: VSP_001363
up seq anno feature ids: VSP_038190
up seq anno feature ids: VSP_038191
up seq anno feature ids: VSP_038192
up seq anno feature ids: VSP_038193
up seq anno feature ids: VSP_038194

9606:RAB6D
gene id: 9606:RAB6D
uniprot id: Q53S08
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno comments: Ras-related protein Rab-6D
up seq anno feature ids: PRO_0000443825

9606:CILP
gene id: 9606:CILP
uniprot id: O75339
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Associated with susceptibility to lumbar disk disease in Japanese; increases binding and inhibition of TGFB1.
up seq anno comments: Cartilage intermediate layer protein 1
up seq anno comments: Cartilage intermediate layer protein 1 C1
up seq anno comments: Cartilage intermediate layer protein 1 C2
up seq anno comments: Disordered
up seq anno comments: Ig-like C2-type
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: TSP type-1
up seq anno feature ids: PRO_0000014671
up seq anno feature ids: PRO_0000014672
up seq anno feature ids: PRO_0000014673
up seq anno feature ids: VAR_022768
up seq anno feature ids: VAR_022769
up seq anno feature ids: VAR_022770
up seq anno feature ids: VAR_022771
up seq anno feature ids: VAR_022772
up seq anno feature ids: VAR_022773
up seq anno feature ids: VAR_022774
up seq anno feature ids: VAR_022775
up seq anno feature ids: VAR_022776
up seq anno feature ids: VAR_069430
up seq anno feature ids: VAR_069431

9606:ZDBF2
gene id: 9606:ZDBF2
uniprot id: N0DVB2
uniprot id: N0DVX5
uniprot id: Q9HCK1
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: DBF4-type
up seq anno comments: DBF4-type zinc finger-containing protein 2
up seq anno comments: Disordered
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000314166
up seq anno feature ids: VAR_037853

9606:SERAC1
gene id: 9606:SERAC1
uniprot id: Q96JX3
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: In MEGDEL.
up seq anno comments: In MEGDEL; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Protein SERAC1
up seq anno feature ids: PRO_0000274671
up seq anno feature ids: VAR_030342
up seq anno feature ids: VAR_068442
up seq anno feature ids: VAR_068443
up seq anno feature ids: VAR_068444
up seq anno feature ids: VAR_068445
up seq anno feature ids: VAR_080230
up seq anno feature ids: VSP_022857
up seq anno feature ids: VSP_022858
up seq anno feature ids: VSP_022859
up seq anno feature ids: VSP_022860

9606:RTCA
gene id: 9606:RTCA
uniprot id: O00442
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: RNA 3'-terminal phosphate cyclase
up seq anno comments: Tele-AMP-histidine intermediate
up seq anno feature ids: PRO_0000156410
up seq anno feature ids: VSP_005915

9606:TMEM156
gene id: 9606:TMEM156
uniprot id: Q8N614
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Transmembrane protein 156
up seq anno feature ids: PRO_0000284505
up seq anno feature ids: VAR_031756
up seq anno feature ids: VAR_031757
up seq anno feature ids: VAR_051430

9606:MT1A
gene id: 9606:MT1A
uniprot id: P04731
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Alpha
up seq anno comments: Beta
up seq anno comments: Metallothionein-1A
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000197234
up seq anno feature ids: VAR_059436
up seq anno feature ids: VAR_060727

9606:BAZ1A
gene id: 9606:BAZ1A
uniprot id: Q9NRL2
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Abolishes interaction with SMARCA5/SNF2H, and abolishes the formation of the CHRACISWI chromatin remodeling complex.
up seq anno comments: Abolishes interaction with the CHRAC1-POLE3 heterodimer.
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Bromo
up seq anno comments: Bromodomain adjacent to zinc finger domain protein 1A
up seq anno comments: DDT
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: PHD-type
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Required for interaction with NCOR1
up seq anno comments: Required for interaction with SMARCA5 and formation of the CHRAC ISWI chromatin remodeling complex
up seq anno comments: Required for interaction with the CHRAC1-POLE3 heterodimer. Required for interaction with the CHRAC1-POLE3 heterodimer
up seq anno comments: WAC
up seq anno feature ids: PRO_0000211167
up seq anno feature ids: VAR_028049
up seq anno feature ids: VAR_048423
up seq anno feature ids: VSP_000551

9606:RPTOR
gene id: 9606:RPTOR
uniprot id: Q6DKI0
uniprot id: Q8N122
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolished phosphorylation after forskolin treatment.
up seq anno comments: Abolished phosphorylation by NLK, leading to impaired inhibition of the mTORC1 complex in response to osmotic stress.
up seq anno comments: Abolishes AMPK-mediated phosphorylation; when associated with A-722. Does not affect phosphorylation after forskolin treatment.
up seq anno comments: Abolishes AMPK-mediated phosphorylation; when associated with A-792.
up seq anno comments: Basic and acidic residues
up seq anno comments: Decreased phosphorylation, leading to increased activity of the mTORC1 complex.
up seq anno comments: Decreased ubiquitination.
up seq anno comments: Disordered
up seq anno comments: Does not affect ubiquitination.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: In Clw1 mutant; abolished interaction with GTP-bound RRAGA and recruitment to lysosomes without affecting the composition of the mTORC1 complex.
up seq anno comments: In Clw2 mutant; abolished interaction with GTP-bound RRAGA and recruitment to lysosomes without affecting the composition of the mTORC1 complex.
up seq anno comments: In Clw3 mutant; abolished interaction with GTP-bound RRAGA and recruitment to lysosomes without affecting the composition of the mTORC1 complex.
up seq anno comments: In Clw4 mutant; abolished interaction with GTP-bound RRAGA and recruitment to lysosomes without affecting the composition of the mTORC1 complex.
up seq anno comments: In alpha24 mutant; abolished interaction with GTP-bound RRAGA and recruitment to lysosomes.
up seq anno comments: In alpha26 mutant; abolished interaction with GTP-bound RRAGA and recruitment to lysosomes.
up seq anno comments: In alpha29 mutant; abolished interaction with GTP-bound RRAGA and recruitment to lysosomes.
up seq anno comments: In alphax3 mutant; abolished interaction with GTP-bound RRAGA and recruitment to lysosomes; when associated with E-597 and A-635.
up seq anno comments: In alphax3 mutant; abolished interaction with GTP-bound RRAGA and recruitment to lysosomes; when associated with F-560 and A-635.
up seq anno comments: In alphax3 mutant; abolished interaction with GTP-bound RRAGA and recruitment to lysosomes; when associated with F-560 and E-597.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Mimics phosphorylation, leading to impaired interaction with small GTPases Rag and activation of the mTORC1 complex.
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by AMPK
up seq anno comments: Phosphoserine; by AMPK and RPS6KA1
up seq anno comments: Phosphoserine; by MAPK8
up seq anno comments: Phosphoserine; by MAPK8, MTOR and NLK
up seq anno comments: Phosphoserine; by MTOR
up seq anno comments: Phosphoserine; by PKA
up seq anno comments: Phosphoserine; by RPS6KA1
up seq anno comments: Phosphoserine; by TBK1
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by MAPK8
up seq anno comments: Polar residues
up seq anno comments: Reduced acetylation, leading to decreased activation of the mTORC complex.
up seq anno comments: Regulatory-associated protein of mTOR
up seq anno comments: WD 1
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno comments: WD 7
up seq anno feature ids: PRO_0000051200

9606:MISP
gene id: 9606:MISP
uniprot id: Q8IVT2
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Almost complete loss of CDK1 phosphorylation in vitro, loss of PLK1-binding, no effect on cortical localization; when associated with A-164; A-172; A-214; A-224; A-284; A-287; A-377 and A-575.
up seq anno comments: Almost complete loss of CDK1 phosphorylation in vitro, loss of PLK1-binding, no effect on cortical localization; when associated with A-394; A-395; A-397; A-471; A-582 and A-586.
up seq anno comments: Almost complete loss of CDK1 phosphorylation in vitro, loss of PLK1-binding, no effect on cortical localization; when associated with A-78; A-164; A-172; A-214; A-224; A-284; A-287 and A-377.
up seq anno comments: Almost complete loss of CDK1 phosphorylation in vitro, loss of PLK1-binding, no effect on cortical localization; when associated with A-78; A-164; A-172; A-214; A-224; A-284; A-287 and A-575.
up seq anno comments: Almost complete loss of CDK1 phosphorylation in vitro, loss of PLK1-binding, no effect on cortical localization; when associated with A-78; A-164; A-172; A-214; A-224; A-284; A-377 and A-575.
up seq anno comments: Almost complete loss of CDK1 phosphorylation in vitro, loss of PLK1-binding, no effect on cortical localization; when associated with A-78; A-164; A-172; A-214; A-224; A-287; A-377 and A-575.
up seq anno comments: Almost complete loss of CDK1 phosphorylation in vitro, loss of PLK1-binding, no effect on cortical localization; when associated with A-78; A-164; A-172; A-214; A-284; A-287; A-377 and A-575.
up seq anno comments: Almost complete loss of CDK1 phosphorylation in vitro, loss of PLK1-binding, no effect on cortical localization; when associated with A-78; A-164; A-172; A-224; A-284; A-287; A-377 and A-575.
up seq anno comments: Almost complete loss of CDK1 phosphorylation in vitro, loss of PLK1-binding, no effect on cortical localization; when associated with A-78; A-164; A-214; A-224; A-284; A-287; A-377 and A-575.
up seq anno comments: Almost complete loss of CDK1 phosphorylation in vitro, loss of PLK1-binding, no effect on cortical localization; when associated with A-78; A-172; A-214; A-224; A-284; A-287; A-377 and A-575.
up seq anno comments: Disordered
up seq anno comments: Drastic reduction in PLK1 phosphorylation in vitro, no effect on cortical localization; when associated with A-382; A-394; A-395; A-397; A-471 and A-582.
up seq anno comments: Drastic reduction in PLK1 phosphorylation in vitro, no effect on cortical localization; when associated with A-382; A-394; A-395; A-397; A-471 and A-586.
up seq anno comments: Drastic reduction in PLK1 phosphorylation in vitro, no effect on cortical localization; when associated with A-382; A-394; A-395; A-397; A-582 and A-586.
up seq anno comments: Drastic reduction in PLK1 phosphorylation in vitro, no effect on cortical localization; when associated with A-382; A-394; A-395; A-471; A-582 and A-586.
up seq anno comments: Drastic reduction in PLK1 phosphorylation in vitro, no effect on cortical localization; when associated with A-382; A-394; A-397; A-471; A-582 and A-586.
up seq anno comments: Drastic reduction in PLK1 phosphorylation in vitro, no effect on cortical localization; when associated with A-382; A-395; A-397; A-471; A-582 and A-586.
up seq anno comments: Mitotic interactor and substrate of PLK1
up seq anno comments: No effect on cortical localization; when associated with D-394; D-395; D-397; D-471 and D-582.
up seq anno comments: No effect on cortical localization; when associated with D-394; D-395; D-397; D-471 and D-586.
up seq anno comments: No effect on cortical localization; when associated with D-394; D-395; D-397; D-582 and D-586.
up seq anno comments: No effect on cortical localization; when associated with D-394; D-395; D-471; D-582 and D-586.
up seq anno comments: No effect on cortical localization; when associated with D-394; D-397; D-471; D-582 and D-586.
up seq anno comments: No effect on cortical localization; when associated with D-395; D-397; D-471; D-582 and D-586.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CDK1; in vitro
up seq anno comments: Phosphoserine; by PLK1; in vitro
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by CDK1; in vitro
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000079381
up seq anno feature ids: VAR_033754
up seq anno feature ids: VAR_033755
up seq anno feature ids: VAR_033756
up seq anno feature ids: VAR_050910
up seq anno feature ids: VAR_061629

9606:ANKRD53
gene id: 9606:ANKRD53
uniprot id: Q8N9V6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: ANK 1
up seq anno comments: ANK 2
up seq anno comments: ANK 3
up seq anno comments: Ankyrin repeat domain-containing protein 53
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000274490
up seq anno feature ids: VAR_030300
up seq anno feature ids: VAR_054427
up seq anno feature ids: VAR_061018
up seq anno feature ids: VAR_067464
up seq anno feature ids: VAR_067465
up seq anno feature ids: VSP_022768
up seq anno feature ids: VSP_022769

9606:GRM6
gene id: 9606:GRM6
uniprot id: O15303
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: In CSNB1B; abolishes expression at the cell membrane.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: Metabotropic glutamate receptor 6
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No effect on location at the cell membrane.
up seq anno feature ids: PRO_0000012934
up seq anno feature ids: VAR_030756
up seq anno feature ids: VAR_030757
up seq anno feature ids: VAR_036195
up seq anno feature ids: VAR_055876
up seq anno feature ids: VAR_055877
up seq anno feature ids: VAR_055878
up seq anno feature ids: VAR_055879
up seq anno feature ids: VAR_055880
up seq anno feature ids: VAR_059310
up seq anno feature ids: VAR_069817
up seq anno feature ids: VAR_069818
up seq anno feature ids: VAR_069819
up seq anno feature ids: VAR_069820

9606:EPHB2
gene id: 9606:EPHB2
uniprot id: B4DSE0
uniprot id: P29323
uniprot id: Q4LE53
uniprot id: Q6NVW1
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Cleavage; by a metalloproteinase
up seq anno comments: Cleavage; by gamma-secretase/PS1
up seq anno comments: Complete loss of ubiquitination by RNF186.
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Eph LBD
up seq anno comments: EphB2/CTF1
up seq anno comments: EphB2/CTF2
up seq anno comments: Ephrin type-B receptor 2
up seq anno comments: Extracellular
up seq anno comments: Fibronectin type-III
up seq anno comments: Fibronectin type-III 1
up seq anno comments: Fibronectin type-III 2
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Helical
up seq anno comments: In BDPLT22.
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: In prostate cancer.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No loss of ubiquitination by RNF186.
up seq anno comments: PDZ-binding (in isoform 2)
up seq anno comments: Phosphoserine

9606:RARG
gene id: 9606:RARG
uniprot id: A8K3H3
uniprot id: B7Z4B4
uniprot id: F1D8P1
uniprot id: P13631
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Hinge
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Modulating
up seq anno comments: NR C4-type
up seq anno comments: NR LBD
up seq anno comments: Nuclear receptor
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Polar residues
up seq anno comments: Retinoic acid receptor gamma
up seq anno feature ids: PRO_0000053472
up seq anno feature ids: VAR_036061
up seq anno feature ids: VAR_038554
up seq anno feature ids: VSP_031080
up seq anno feature ids: VSP_044776
up seq anno feature ids: VSP_044777

9606:GPR158
gene id: 9606:GPR158
uniprot id: Q5T848
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Cache-like region
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Does not affect G protein alpha subunit activation.
up seq anno comments: Does not affect ability to regulate cAMP levels; when associated with A-135 and A-540.
up seq anno comments: Does not affect ability to regulate cAMP levels; when associated with A-135 and A-578.
up seq anno comments: Does not affect ability to regulate cAMP levels; when associated with A-540 and A-578.
up seq anno comments: Extracellular
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: In M1 mutant; decreased localizatiuon to the nucleus.
up seq anno comments: In M2 mutant; decreased localizatiuon to the nucleus.
up seq anno comments: In Mut1; decreased interaction with GNAO1.
up seq anno comments: In Mut2; does not affect interaction with GNAO1.
up seq anno comments: In Mut3; decreased interaction with GNAO1.
up seq anno comments: In Mut4; does not affect interaction with GNAO1.
up seq anno comments: Induces an increase of cAMP levels.
up seq anno comments: Metabotropic glycine receptor
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Nearly abolished ability to inhibit the GTPase activator activity of RGS7 without affecting glycine-binding.
up seq anno comments: Nearly abolished glycine-binding and ability to inhibit the GTPase activator activity of RGS7.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: VCPWE motif 1
up seq anno comments: VCPWE motif 2
up seq anno comments: VCPWE motif 3
up seq anno feature ids: PRO_0000012969
up seq anno feature ids: VAR_049285
up seq anno feature ids: VAR_049286

9606:KCNK7
gene id: 9606:KCNK7
uniprot id: Q3SYI1
uniprot id: Q9Y2U2
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: INTRAMEM
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: INTRAMEM
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Helical
up seq anno comments: In isoform B.
up seq anno comments: In isoform C.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Pore-forming; Name=Pore-forming 1
up seq anno comments: Pore-forming; Name=Pore-forming 2
up seq anno comments: Potassium channel
up seq anno comments: Potassium channel subfamily K member 7
up seq anno feature ids: PRO_0000101751
up seq anno feature ids: VSP_006693
up seq anno feature ids: VSP_006694
up seq anno feature ids: VSP_006695
up seq anno feature ids: VSP_006696

9606:SLC29A1
gene id: 9606:SLC29A1
uniprot id: Q99808
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: Decrease in the transport capacity and substrate affinity for adenosine. Resistance to dipyridamole, dilazep, nitrobenzylmercaptopurine riboside (NBMPR), draflazine and soluflazine.
up seq anno comments: Decrease in the transport capacity but no change in affinity for adenosine. Resistance to dipyridamole and dilazep, little or no effect on the sensitivities to nitrobenzylmercaptopurine riboside (NBMPR), draflazine and soluflazine.
up seq anno comments: Decrease in the transport capacity for adenosine but no change in substrate affinity. Resistance to dipyridamole, dilazep, nitrobenzylmercaptopurine riboside (NBMPR), draflazine and soluflazine.
up seq anno comments: Decreased affinity for cytidine and adenosine but not uridine. Resistance to azidothymidine (AZT), dideoxyinosine (ddI), nitrobenzylmercaptopurine riboside (NBMPR), dilazep, dipyridamole and hypoxanthine but not dideoxycytidine (ddC).
up seq anno comments: Decreased inosine transport.
up seq anno comments: Disordered
up seq anno comments: Equilibrative nucleoside transporter 1
up seq anno comments: Essential for nucleobase transport
up seq anno comments: Extracellular
up seq anno comments: Glycosylation-defective.
up seq anno comments: Helical
up seq anno comments: Impaired protein folding and/or altered trafficking. Decrease in the transport capacity but no change in affinity for adenosine. No effect on the sensitivity to dipyridamole. Resistance to dilazep, nitrobenzylmercaptopurine riboside (NBMPR), draflazine and soluflazine.
up seq anno comments: Impaired protein folding and/or altered trafficking. Decrease in the transport capacity for adenosine but no change in substrate affinity. Resistance to dipyridamole, dilazep, nitrobenzylmercaptopurine riboside (NBMPR), draflazine and soluflazine.
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Increase in the transport capacity and decrease in affinity for inosine. Increase in the transport capacity but no change in affinity for adenosine. Resistance to nitrobenzylmercaptopurine riboside (NBMPR) and dilazep but not dipyridamole.
up seq anno comments: Increase in the transport capacity but no change in affinity for adenosine. Resistance to dipyridamole and increase in the sensitivity to dilazep. Little or no effect on the sensitivities to nitrobenzylmercaptopurine riboside (NBMPR), draflazine and soluflazine.
up seq anno comments: Loss of nucleobase transport; when associated with S-193; S-213; S-222; S-297; S-333; S-378; S-414; S-416 and S-439. No change in nucleobase transport; when associated with S-193; S-213; S-222; S-297; S-333; S-378; S-416 and S-439.
up seq anno comments: Loss of nucleobase transport; when associated with S-87; S-193; S-213; S-222; S-297; S-333; S-378; S-414 and S-416. No change in nucleobase transport; when associated with S-87; S-193; S-213; S-222; S-297; S-333; S-378 and S-416.
up seq anno comments: Loss of nucleobase transport; when associated with S-87; S-193; S-213; S-222; S-297; S-333; S-378; S-414 and S-439. No change in nucleobase transport; when associated with S-87; S-193; S-213; S-222; S-297; S-333; S-378 and S-439.
up seq anno comments: Loss of nucleobase transport; when associated with S-87; S-193; S-213; S-222; S-297; S-333; S-378; S-416 and S-439.
up seq anno comments: Loss of nucleobase transport; when associated with S-87; S-193; S-213; S-222; S-297; S-333; S-414; S-416 and S-439. No change in nucleobase transport; when associated with S-87; S-193; S-213; S-222; S-297; S-333; S-416 and S-439.
up seq anno comments: Loss of nucleobase transport; when associated with S-87; S-193; S-213; S-222; S-297; S-378; S-414; S-416 and S-439. No change in nucleobase transport; when associated with S-87; S-193; S-213; S-222; S-297; S-378; S-416 and S-439.
up seq anno comments: Loss of nucleobase transport; when associated with S-87; S-193; S-213; S-222; S-333; S-378; S-414; S-416 and S-439. No change in nucleobase transport; when associated with S-87; S-193; S-213; S-222; S-333; S-378; S-416 and S-439.
up seq anno comments: Loss of nucleobase transport; when associated with S-87; S-193; S-213; S-297; S-333; S-378; S-414; S-416 and S-439. No change in nucleobase transport; when associated with S-87; S-193; S-213; S-297; S-333; S-378; S-416 and S-439.
up seq anno comments: Loss of nucleobase transport; when associated with S-87; S-193; S-222; S-297; S-333; S-378; S-414; S-416 and S-439. No change in nucleobase transport; when associated with S-87; S-193; S-222; S-297; S-333; S-378; S-416 and S-439.
up seq anno comments: Loss of nucleobase transport; when associated with S-87; S-213; S-222; S-297; S-333; S-378; S-414; S-416 and S-439. No change in nucleobase transport; when associated with S-87; S-213; S-222; S-297; S-333; S-378; S-416 and S-439.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No change in the transport capacity but decrease in affinity for adenosine. Resistance to dipyridamole, dilazep, nitrobenzylmercaptopurine riboside (NBMPR), draflazine and soluflazine.
up seq anno comments: No effect on glycosylation.
up seq anno comments: No effect on subcellular localization and inosine transport.
up seq anno comments: No effect on the transport activity for adenosine.
up seq anno comments: Not glycosylated
up seq anno comments: Phosphoserine
up seq anno comments: Reduction of the transport activity for adenosine.
up seq anno comments: Removed
up seq anno comments: Resistance to nitrobenzylmercaptopurine riboside (NBMPR) and dilazep but not dipyridamole.
up seq anno feature ids: PRO_0000209337
up seq anno feature ids: VAR_036221
up seq anno feature ids: VAR_036222
up seq anno feature ids: VAR_053668
up seq anno feature ids: VAR_053669
up seq anno feature ids: VSP_056579

9606:PLEC
gene id: 9606:PLEC
uniprot id: A0A8I5KUE3
uniprot id: Q15149
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 4 X 4 AA tandem repeats of G-S-R-X
up seq anno comments: Actin-binding
up seq anno comments: Basic and acidic residues
up seq anno comments: Binding to intermediate filaments
up seq anno comments: Calponin-homology (CH)
up seq anno comments: Calponin-homology (CH) 1
up seq anno comments: Calponin-homology (CH) 2
up seq anno comments: Central fibrous rod domain
up seq anno comments: Disordered
up seq anno comments: Globular 1
up seq anno comments: Globular 2
up seq anno comments: In EBS5A.
up seq anno comments: In EBS5B.
up seq anno comments: In LGMDR17.
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: In isoform 7.
up seq anno comments: In isoform 8.
up seq anno comments: In isoform 9.
up seq anno comments: N6-acetyllysine
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by CDK1
up seq anno comments: Phosphotyrosine
up seq anno comments: Plectin
up seq anno comments: Plectin 1
up seq anno comments: Plectin 10
up seq anno comments: Plectin 11
up seq anno comments: Plectin 12
up seq anno comments: Plectin 13
up seq anno comments: Plectin 14
up seq anno comments: Plectin 15
up seq anno comments: Plectin 16
up seq anno comments: Plectin 17
up seq anno comments: Plectin 18
up seq anno comments: Plectin 19
up seq anno comments: Plectin 2
up seq anno comments: Plectin 20
up seq anno comments: Plectin 21
up seq anno comments: Plectin 22
up seq anno comments: Plectin 23
up seq anno comments: Plectin 24

9606:ENDOU
gene id: 9606:ENDOU
uniprot id: P21128
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Abolishes endoribonuclease activity and increases RNA-binding activity.
up seq anno comments: Abolishes endoribonuclease activity without affecting RNA-binding activity.
up seq anno comments: Alternate
up seq anno comments: EndoU
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: SMB 1
up seq anno comments: SMB 2
up seq anno comments: Strongly impairs endoribonuclease activity without affecting RNA-binding activity.
up seq anno comments: Uridylate-specific endoribonuclease
up seq anno feature ids: PRO_0000036405
up seq anno feature ids: VSP_039215
up seq anno feature ids: VSP_039216

9606:ZNF430
gene id: 9606:ZNF430
uniprot id: A8K360
uniprot id: Q2NKJ9
uniprot id: Q9H8G1
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11
up seq anno comments: C2H2-type 12; degenerate
up seq anno comments: C2H2-type 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: C2H2-type 9
up seq anno comments: KRAB
up seq anno comments: N-acetylmethionine
up seq anno comments: Zinc finger protein 430
up seq anno feature ids: PRO_0000047578

9606:EHBP1L1
gene id: 9606:EHBP1L1
uniprot id: Q8N3D4
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: C2 NT-type
up seq anno comments: CAAX motif
up seq anno comments: Calponin-homology (CH)
up seq anno comments: Disordered
up seq anno comments: EH domain-binding protein 1-like protein 1
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: bMERB
up seq anno feature ids: PRO_0000285204
up seq anno feature ids: VAR_031993
up seq anno feature ids: VAR_031994
up seq anno feature ids: VAR_031995
up seq anno feature ids: VAR_031996
up seq anno feature ids: VAR_031997
up seq anno feature ids: VAR_061645

9606:PAFAH1B1
gene id: 9606:PAFAH1B1
uniprot id: A0A6Q8PFU3
uniprot id: P43034
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: In LIS1.
up seq anno comments: In LIS1; abrogates interaction with NDE1 and reduces neuronal migration in vitro.
up seq anno comments: In LIS1; reduces neuronal migration in vitro.
up seq anno comments: In SBH; abrogates interaction with NDE1 and reduces neuronal migration in vitro.
up seq anno comments: In SBH; somatic mosaicism in 18% of lymphocytes and 21% of hair root cells.
up seq anno comments: In isoform 2.
up seq anno comments: Interaction with DCX
up seq anno comments: Interaction with NDE1
up seq anno comments: Interaction with NDEL1
up seq anno comments: Interaction with dynein and dynactin
up seq anno comments: LisH
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Platelet-activating factor acetylhydrolase IB subunit beta
up seq anno comments: Required for self-association and interaction with PAFAH1B2 and PAFAH1B3
up seq anno comments: WD
up seq anno comments: WD 1
up seq anno comments: WD 2
up seq anno comments: WD 3
up seq anno comments: WD 4
up seq anno comments: WD 5
up seq anno comments: WD 6
up seq anno comments: WD 7
up seq anno feature ids: PRO_0000051061
up seq anno feature ids: VAR_007724
up seq anno feature ids: VAR_010203
up seq anno feature ids: VAR_015398
up seq anno feature ids: VAR_015399
up seq anno feature ids: VAR_015400
up seq anno feature ids: VAR_037300
up seq anno feature ids: VAR_037301
up seq anno feature ids: VSP_019376
up seq anno feature ids: VSP_019377
up seq anno feature ids: VSP_019378
up seq anno feature ids: VSP_019379

9606:LPA
gene id: 9606:LPA
uniprot id: P08519
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Apolipoprotein(a)
up seq anno comments: Charge relay system
up seq anno comments: Disordered
up seq anno comments: Kringle 1
up seq anno comments: Kringle 10
up seq anno comments: Kringle 11
up seq anno comments: Kringle 12
up seq anno comments: Kringle 13
up seq anno comments: Kringle 14
up seq anno comments: Kringle 15
up seq anno comments: Kringle 16
up seq anno comments: Kringle 2
up seq anno comments: Kringle 3
up seq anno comments: Kringle 4
up seq anno comments: Kringle 5
up seq anno comments: Kringle 6
up seq anno comments: Kringle 7
up seq anno comments: Kringle 8
up seq anno comments: Kringle 9
up seq anno comments: Loss of lysine-sepharose binding.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Peptidase S1
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000455008
up seq anno feature ids: VAR_006633
up seq anno feature ids: VAR_047293
up seq anno feature ids: VAR_047294
up seq anno feature ids: VAR_047295
up seq anno feature ids: VAR_047296
up seq anno feature ids: VAR_047297
up seq anno feature ids: VAR_047298
up seq anno feature ids: VAR_047299
up seq anno feature ids: VAR_047300
up seq anno feature ids: VAR_047301
up seq anno feature ids: VAR_047302

9606:SRSF1
gene id: 9606:SRSF1
uniprot id: Q07955
uniprot id: Q59FA2
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Asymmetric dimethylarginine; alternate
up seq anno comments: Basic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: In AV; loss of ability to activate splicing. Great reduction in splice site switching activity and no effect on RNA-binding.
up seq anno comments: In FV1; loss of ability to activate splicing. Slight reduction in splice site switching activity and no effect on RNA-binding.
up seq anno comments: In FV2; loss of ability to activate splicing. Great reduction in splice site switching activity and RNA-binding.
up seq anno comments: In MR-A; loss of ability to activate splicing.
up seq anno comments: In MR-B; strongly inhibits splicing.
up seq anno comments: In MR-D; loss of ability to activate splicing.
up seq anno comments: In MR-E; loss of ability to activate splicing.
up seq anno comments: In RS-A; loss of ability to activate splicing but retains splice site switching.
up seq anno comments: In RS-B; retains both splice activation and splice site switching activity.
up seq anno comments: In RS-C; loss of ability to activate splicing but retains splice site switching.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform ASF-2.
up seq anno comments: In isoform ASF-3.
up seq anno comments: Interaction with SAFB1
up seq anno comments: N-acetylserine
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Omega-N-methylarginine; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Predominantly localizes to cytoplasm and fails to modulate splicing of endogenous pre-mRNAs; when associated with Ala-93 and Ala-109.
up seq anno comments: Predominantly localizes to cytoplasm and fails to modulate splicing of endogenous pre-mRNAs; when associated with Ala-93 and Ala-97.
up seq anno comments: Predominantly localizes to cytoplasm and fails to modulate splicing of endogenous pre-mRNAs; when associated with Ala-97 and Ala-109.
up seq anno comments: RRM
up seq anno comments: RRM 1
up seq anno comments: RRM 2
up seq anno comments: Reduced nucleocytoplasmic shuttling; when associated with D-162.
up seq anno comments: Reduced nucleocytoplasmic shuttling; when associated with D-190.
up seq anno comments: Removed
up seq anno comments: Serine/arginine-rich splicing factor 1
up seq anno feature ids: PRO_0000081911
up seq anno feature ids: VAR_035488
up seq anno feature ids: VSP_005856
up seq anno feature ids: VSP_005857
up seq anno feature ids: VSP_005858

9606:IGFL1
gene id: 9606:IGFL1
uniprot id: Q6UW32
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Signal Peptide
up seq anno comments: Insulin growth factor-like family member 1
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000044633

9606:ITLN1
gene id: 9606:ITLN1
uniprot id: Q8WWA0
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Mass
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Lipid Binding
up seq anno labels: Mass
up seq anno labels: Mutagenesis Site
up seq anno labels: Propeptide
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Fibrinogen C-terminal
up seq anno comments: Forms mainly dimers. Forms mainly monomers; when associated with S-31.
up seq anno comments: Forms mainly monomers; when associated with S-48.
up seq anno comments: GPI-anchor amidated serine
up seq anno comments: Intelectin-1
up seq anno comments: Interchain (with C-31)
up seq anno comments: Interchain (with C-48)
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000009143
up seq anno feature ids: PRO_0000009144
up seq anno feature ids: VAR_019924
up seq anno feature ids: VAR_019925

9606:CLCF1
gene id: 9606:CLCF1
uniprot id: Q9UBD9
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Cardiotrophin-like cytokine factor 1
up seq anno comments: In CISS2; heterozygous compound with a nonsense mutation; unable to bind CNTFR alpha.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000015616
up seq anno feature ids: VAR_028354
up seq anno feature ids: VSP_044269

9606:TK2
gene id: 9606:TK2
uniprot id: A4IF54
uniprot id: A5PLM0
uniprot id: B4DIW4
uniprot id: B4E0Z4
uniprot id: J3QRP0
uniprot id: O00142
uniprot id: Q8IZR3
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transit Peptide
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transit Peptide
up seq anno comments: Basic and acidic residues
up seq anno comments: Deoxynucleoside kinase
up seq anno comments: Disordered
up seq anno comments: In MTDPS2 and PEOB3; reduction of activity; reduced affinity for ATP.
up seq anno comments: In MTDPS2.
up seq anno comments: In MTDPS2; reduction of activity in muscles.
up seq anno comments: In MTDPS2; reduction of activity.
up seq anno comments: In MTDPS2; severe form of combined brain and muscular atrophy; depletion of mtDNA in skeletal muscle; normal residual mtDNA in blood and fibroblasts.
up seq anno comments: In PEOB3; reduction of activity; reduced affinity for ATP.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: Mitochondrion
up seq anno comments: Proton acceptor
up seq anno comments: Thymidine kinase 2, mitochondrial
up seq anno feature ids: PRO_0000016842
up seq anno feature ids: VAR_019419
up seq anno feature ids: VAR_019420
up seq anno feature ids: VAR_019421
up seq anno feature ids: VAR_019422
up seq anno feature ids: VAR_023790
up seq anno feature ids: VAR_023791
up seq anno feature ids: VAR_023792
up seq anno feature ids: VAR_072789
up seq anno feature ids: VAR_072790
up seq anno feature ids: VAR_076984
up seq anno feature ids: VSP_003028
up seq anno feature ids: VSP_043503
up seq anno feature ids: VSP_044459
up seq anno feature ids: VSP_054606
up seq anno feature ids: VSP_058694

9606:ADRA1D
gene id: 9606:ADRA1D
uniprot id: B0ZBE0
uniprot id: P25100
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Lipid Binding
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Alpha-1D adrenergic receptor
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Pro residues
up seq anno comments: S-palmitoyl cysteine
up seq anno feature ids: PRO_0000069073

9606:PJA1
gene id: 9606:PJA1
uniprot id: Q8NG27
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: E3 ubiquitin-protein ligase Praja-1
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: RING-type
up seq anno feature ids: PRO_0000055999
up seq anno feature ids: VAR_052088
up seq anno feature ids: VAR_052089
up seq anno feature ids: VSP_007518
up seq anno feature ids: VSP_046995

9606:MRO
gene id: 9606:MRO
uniprot id: Q9BYG7
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: HEAT
up seq anno comments: In isoform 2 and isoform 5.
up seq anno comments: In isoform 2 and isoform 6.
up seq anno comments: Protein maestro
up seq anno feature ids: PRO_0000248197
up seq anno feature ids: VAR_027261
up seq anno feature ids: VAR_027262
up seq anno feature ids: VSP_045711
up seq anno feature ids: VSP_045712

9606:HCST
gene id: 9606:HCST
uniprot id: Q9UBK5
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Abolishes stable interaction with KLRK1.
up seq anno comments: Abrogates cell killing and interaction with GRB2. No effect on interaction with PIK3R1.
up seq anno comments: Abrogates cell killing and interaction with PIK3R1. No effect on interaction with GRB2.
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: GRB2 binding site
up seq anno comments: Helical
up seq anno comments: Hematopoietic cell signal transducer
up seq anno comments: In isoform 2.
up seq anno comments: PIK3R1 binding site
up seq anno comments: Phosphotyrosine
up seq anno feature ids: PRO_0000330287
up seq anno feature ids: VSP_033022

9606:RPL23
gene id: 9606:RPL23
uniprot id: P62829
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Sequence Conflict
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno comments: Large ribosomal subunit protein uL14
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno feature ids: PRO_0000128612

9606:EFCAB14
gene id: 9606:EFCAB14
uniprot id: O75071
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: EF-hand 1
up seq anno comments: EF-hand 2
up seq anno comments: EF-hand calcium-binding domain-containing protein 14
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000073882
up seq anno feature ids: VAR_048669
up seq anno feature ids: VAR_074176

9606:TMEM169
gene id: 9606:TMEM169
uniprot id: Q96HH4
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Transmembrane protein 169
up seq anno feature ids: PRO_0000271039

9606:SH2D4B
gene id: 9606:SH2D4B
uniprot id: Q5SQS7
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: SH2
up seq anno comments: SH2 domain-containing protein 4B
up seq anno feature ids: PRO_0000308600
up seq anno feature ids: VAR_056987
up seq anno feature ids: VAR_056988
up seq anno feature ids: VSP_029009
up seq anno feature ids: VSP_029010
up seq anno feature ids: VSP_029011
up seq anno feature ids: VSP_029012

9606:PCDHGA1
gene id: 9606:PCDHGA1
uniprot id: Q9Y5H4
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cadherin 1
up seq anno comments: Cadherin 2
up seq anno comments: Cadherin 3
up seq anno comments: Cadherin 4
up seq anno comments: Cadherin 5
up seq anno comments: Cadherin 6
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: Protocadherin gamma-A1
up seq anno feature ids: PRO_0000003948
up seq anno feature ids: VAR_021882
up seq anno feature ids: VAR_048555
up seq anno feature ids: VSP_008659
up seq anno feature ids: VSP_008660

9606:NPIPB15
gene id: 9606:NPIPB15
uniprot id: A6NHN6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Signal Peptide
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Nuclear pore complex-interacting protein family member B15
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000367122

9606:TWF2
gene id: 9606:TWF2
uniprot id: Q6IBS0
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: ADF-H 1
up seq anno comments: ADF-H 2
up seq anno comments: Disordered
up seq anno comments: In a lung neuroendocrine carcinoma sample; somatic mutation.
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Removed
up seq anno comments: Twinfilin-2
up seq anno feature ids: PRO_0000233136
up seq anno feature ids: VAR_042407
up seq anno feature ids: VAR_042408
up seq anno feature ids: VAR_042409

9606:CMTM8
gene id: 9606:CMTM8
uniprot id: Q8IZV2
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: CKLF-like MARVEL transmembrane domain-containing protein 8
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: MARVEL
up seq anno feature ids: PRO_0000186112
up seq anno feature ids: VSP_044430

9606:SLC13A4
gene id: 9606:SLC13A4
uniprot id: A0A804HKQ4
uniprot id: Q59HF0
uniprot id: Q9UKG4
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: Polar residues
up seq anno comments: Solute carrier family 13 member 4
up seq anno feature ids: PRO_0000172495
up seq anno feature ids: VAR_057193

9606:GASK1B
gene id: 9606:GASK1B
uniprot id: Q6UWH4
up seq anno parent labels: Chain
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Golgi-associated kinase 1B
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000288864
up seq anno feature ids: VAR_032514
up seq anno feature ids: VSP_025794
up seq anno feature ids: VSP_025795
up seq anno feature ids: VSP_025796

9606:ALOX5
gene id: 9606:ALOX5
uniprot id: P09917
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes binding to COTL1. Impairs interaction with DICER; when associated with A-14 and A-76.
up seq anno comments: Almost no loss of activity.
up seq anno comments: Decreases arachidonate 5-lipoxygenase activity.
up seq anno comments: Decreases arachidonate 5-lipoxygenase activity. Increases leukotriene A4 synthase activity.
up seq anno comments: Does not affect arachidonate 5-lipoxygenase activity.
up seq anno comments: Does not affect arachidonate 5-lipoxygenase activity. Does not oxygenate arachidonate typical 15-lipoxygenase substrates such as dihomo-gamma-linolenic acid and N-arachidonyl glycine.
up seq anno comments: Enhances affinity for arachidonic acid. Impairs arachidonate 5-lipoxygenase activity. Induces arachidonate 15-lipoxygenase activity. Oxygenates typical arachidonate 15-lipoxygenase substrates such as dihomo-gamma-linolenic acid and N-arachidonyl glycine. Synthesizes lipoxin A4 when incubated with a stable 5-lipoxygenase.
up seq anno comments: Essential for stabilizing binding to COTL1
up seq anno comments: Impairs interaction with DICER1; when associated with A-14 and A-103.
up seq anno comments: Impairs interaction with DICER1; when associated with A-76 and A-103.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: Increases arachidonate 5-lipoxygenase activity.
up seq anno comments: Increases arachidonate 5-lipoxygenase activity. Does not affect leukotriene A4 synthase activity.
up seq anno comments: Lipoxygenase
up seq anno comments: Loss of (5S)-lipoxygenase activity. Loss of (5S)-lipoxygenase activity; when associated with W-360; I-425 and M-426. Exhibits a major (15S)-lipoxygenase activity;when associated with W-360; I-425 and M-426. Does not catalyze oxygenation of arachodonic acid to 5-HETE; when associated with W-360; I-425 and M-426. Catalyzes oxygenation of arachodonic acid to form in majority (15S)-HETE and (8S)-HETE but also 12-HETE; when associated with W-360; I-425 and M-426. Abolishes the LTA4-synthase activity; when associated with W-360; I-425 and M-426. Catalyzes oxygenation of linoleic acid to (13S)- and (9 S)-HODE; when associated with W-360; I-425 and M-426. Catalyzes oxygenation of (11S)- and (11R)-deutero-linoleic acid to 9-HODE and (13S)-HODE respectively; when associated with W-360; I-425 and M-426. Catalyzes oxygenation of alpha-linolenic acid (ALA) to 13-HOTrE(n-3); when associated with W-360; I-425 and M-426. Catalyzes oxygenation of gamma-linolenic acid (GLA) to 13-HOTrE(n-6) and 10-HOTrE; when associated with W-360; I-425 and M-426. Catalyzes the oxygenation of eicosapentaenoic acid (EPA) to 12- and 15-HEPA; when associated with W-360; I-425 and M-426. Catalyzes the oxygenation of docosahexaenoic acid (DHA) to 10- and 17-HDHA; when associated with W-360; I-425 and M-426. Exhibits a lipoxin synthase activity towards (5S)-HETE as major substrates followed by (5S),(15S)-DiHETE and (15S)-HETE; when associated with W-360; I-425 and M-426.
up seq anno comments: Loss of (5S)-lipoxygenase activity; when associated with I-425 and M-426. Loss of (5S)-lipoxygenase activity; when associated with I-425; M-426 and I-604. Exhibits a major (15S)-lipoxygenase activity; when associated with I-425 and M-426. Exhibits a major (15S)-lipoxygenase activity; when associated with I-425; M-426 and I-604. Does not catalyze oxygenation of arachodonic acid to 5-HETE; when associated with I-425: M-426 and I-604. Catalyzes oxygenation of arachodonic acid to form mostly (15S)-HETE and (8S)-HETE but also 12-HETE; when associated with I-425: M-426 and I-604. Abolishes the LTA4-synthase activity; when associated with I-425: M-426 and I-604. Catalyzes oxygenation of linoleic acid to (13S)- and (9S)-HODE; when associated with I-425: M-426 and I-604. Catalyzes oxygenation of (11S)- and (11R)-deutero-linoleic acid to 9-HODE and (13S)-HODE respectively; when associated with I-425: M-426 and I-604. Catalyzes oxygenation of alpha-linolenic acid (ALA) to 13-HOTrE(n-3); when associated with I-425: M-426 and I-604. Catalyzes oxygenation of gamma-linolenic acid (GLA) to 13-HOTrE(n-6) and 10-HOTrE; when associated with I-425: M-426 and I-604. Catalyzes the oxygenation of eicosapentaenoic acid (EPA) to 12- and 15-HEPA; when associated with I-425: M-426 and I-604. Catalyzes the oxygenation of docosahexaenoic acid (DHA) to 10- and 17-HDHA; when associated with I-425: M-426 and I-604. Exhibits a lipoxin synthase activity towards (5S)-HETE as major substrates followed by (5S),(15S)-DiHETE and (15S)-HETE; when associated with I-425: M-426 and I-604.
up seq anno comments: Loss of (5S)-lipoxygenase activity; when associated with W-360 and I-425. Loss of (5S)-lipoxygenase activity; when associated with W-360; I-425 and I-604. Exhibits a major (15S)-lipoxygenase activity; when associated with W-360 and I-425. Exhibits a major (15S)-lipoxygenase activity; when associated with W-360; I-425 and I-604. Does not catalyze oxygenation of arachodonic acid to 5-HETE; when associated with W-360; I-425 and I-604. Catalyzes oxygenation of arachodonic acid to form in majority (15S)-HETE and (8S)-HETE but also 12-HETE; when associated with W-360; I-425 and I-604. Abolishes the LTA4-synthase activity; when associated with W-360; I-425 and I-604. Catalyzes oxygenation of linoleic acid to (13S)- and (9S)-HODE; when associated with W-360; I-425 and I-604. Catalyzes oxygenation of (11S)- and (11R)-deutero-linoleic acid to 9-HODE and (13S)-HODE respectively; when associated with W-360; I-425 and I-604. Catalyzes oxygenation of alpha-linolenic acid (ALA) to 13-HOTrE(n-3); when associated with W-360; I-425 and I-604. Catalyzes oxygenation of gamma-linolenic acid (GLA) to 13-HOTrE(n-6) and 10-HOTrE; when associated with W-360; I-425 and I-604. Catalyzes the oxygenation of eicosapentaenoic acid (EPA) to 12- and 15-HEPA; when associated with W-360; I-425 and I-604. Catalyzes the oxygenation of docosahexaenoic acid (DHA) to 10- and 17-HDHA; when associated with W-360; I-425 and I-604. Exhibits a lipoxin synthase activity towards (5S)-HETE as major substrates followed by (5S),(15S)-DiHETE and (15S)-HETE; when associated with W-360; I-425 and I-604.
up seq anno comments: Loss of (5S)-lipoxygenase activity; when associated with W-360 and M-426. Loss of (5S)-lipoxygenase activity; when associated with W-360; M-426 and I-604. Exhibits a major (15S)-lipoxygenase activity; when associated with W-360 and M-426. Exhibits a major (15S)-lipoxygenase activity; when associated with W-360; M-426 and I-604. Does not catalyze oxygenation of arachodonic acid to 5-HETE; when associated with W-360; M-426 and I-604. Catalyzes oxygenation of arachodonic acid to form in majority (15S)-HETE and (8S)-HETE but also 12-HETE; when associated with W-360; M-426 and I-604. Abolishes the LTA4-synthase activity; when associated with W-360; M-426 and I-604. Catalyzes oxygenation of linoleic acid to (13S)- and (9S)-HODE; when associated with W-360; M-426 and I-604. Catalyzes oxygenation of (11S)- and (11R)-deutero-linoleic acid to 9-HODE and (13S)-HODE respectively; when associated with W-360; M-426 and I-604. Catalyzes oxygenation of alpha-linolenic acid (ALA) to 13-HOTrE(n-3); when associated with W-360; M-426 and I-604. Catalyzes oxygenation of gamma-linolenic acid (GLA) to 13-HOTrE(n-6) and 10-HOTrE; when associated with W-360; M-426 and I-604. Catalyzes the oxygenation of eicosapentaenoic acid (EPA) to 12- and 15-HEPA; when associated with W-360; M-426 and I-604. Catalyzes the oxygenation of docosahexaenoic acid (DHA) to 10- and 17-HDHA; when associated with W-360; M-426 and I-604. Exhibits a lipoxin synthase activity towards (5S)-HETE as major substrates followed by (5S),(15S)-DiHETE and (15S)-HETE; when associated with W-360; M-426 and I-604.
up seq anno comments: Loss of phosphorylation site. Permits export from the nucleus.
up seq anno comments: No activity.
up seq anno comments: No loss of activity.
up seq anno comments: PLAT
up seq anno comments: Phosphoserine; by MAPKAPK2
up seq anno comments: Phosphoserine; by PKA
up seq anno comments: Polyunsaturated fatty acid 5-lipoxygenase
up seq anno comments: Prevents phosphorylation by PKA.
up seq anno comments: Still some substantial activity.
up seq anno feature ids: PRO_0000220693
up seq anno feature ids: VAR_028018
up seq anno feature ids: VAR_083301
up seq anno feature ids: VAR_083302
up seq anno feature ids: VAR_083303
up seq anno feature ids: VAR_083304
up seq anno feature ids: VAR_083305
up seq anno feature ids: VAR_083306
up seq anno feature ids: VSP_046998
up seq anno feature ids: VSP_053534
up seq anno feature ids: VSP_053535
up seq anno feature ids: VSP_053536
up seq anno feature ids: VSP_053537

9606:MRFAP1L1
gene id: 9606:MRFAP1L1
uniprot id: Q96HT8
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Sequence Conflict
up seq anno comments: MORF4 family-associated protein 1-like 1
up seq anno feature ids: PRO_0000318718

9606:IL33
gene id: 9606:IL33
uniprot id: O95760
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 7-fold decrease in affinity for IL1RL1.
up seq anno comments: 8-fold decrease in affinity for IL1RL1.
up seq anno comments: Almost abolishes binding to IL1RL1.
up seq anno comments: Cleavage; by CTSG
up seq anno comments: Cleavage; by ELANE
up seq anno comments: Decreases affinity for IL1RL1.
up seq anno comments: Homeodomain-like HTH domain
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Interaction with RELA
up seq anno comments: Interleukin-33
up seq anno comments: Interleukin-33 (109-270)
up seq anno comments: Interleukin-33 (95-270)
up seq anno comments: Interleukin-33 (99-270)
up seq anno feature ids: PRO_0000096790
up seq anno feature ids: PRO_0000430083
up seq anno feature ids: PRO_0000430084
up seq anno feature ids: PRO_0000430085
up seq anno feature ids: PRO_0000430086
up seq anno feature ids: VAR_049576
up seq anno feature ids: VSP_042728
up seq anno feature ids: VSP_044948
up seq anno feature ids: VSP_045440

9606:ERICH6
gene id: 9606:ERICH6
uniprot id: Q7L0X2
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Acidic residues
up seq anno comments: Disordered
up seq anno comments: Glutamate-rich protein 6
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno feature ids: PRO_0000291924
up seq anno feature ids: VAR_032893
up seq anno feature ids: VAR_032894
up seq anno feature ids: VAR_062240
up seq anno feature ids: VSP_026312
up seq anno feature ids: VSP_026313

9606:PISD
gene id: 9606:PISD
uniprot id: Q9UG56
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transit Peptide
up seq anno labels: Transmembrane
up seq anno comments: Charge relay system; for autoendoproteolytic cleavage activity
up seq anno comments: Cleavage (non-hydrolytic); by autocatalysis
up seq anno comments: Helical
up seq anno comments: In LIBF; loss of autocatalytic processing; decreased protein abundance; decreased phosphatidylserine decarboxylase activity; changed mitochondrion organization.
up seq anno comments: In LIBF; loss of autocatalytic processing; probably decreased phosphatidylserine decarboxylase activity; changed mitochondrion organization; patient-derived fibroblasts show fragmented mitochondrial morphology around the nucleus; decreased cell viability with increased CASP3 and CASP7 activation.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of autocatalytic processing.
up seq anno comments: Mitochondrial intermembrane
up seq anno comments: Mitochondrial matrix
up seq anno comments: Mitochondrion
up seq anno comments: Necessary for localization to both lipid droplets and mitochondria
up seq anno comments: Phosphatidylserine decarboxylase alpha chain
up seq anno comments: Phosphatidylserine decarboxylase beta chain
up seq anno comments: Phosphatidylserine decarboxylase proenzyme, mitochondrial
up seq anno comments: Pyruvic acid (Ser); by autocatalysis
up seq anno comments: Schiff-base intermediate with substrate; via pyruvic acid; for decarboxylase activity
up seq anno feature ids: PRO_0000029835
up seq anno feature ids: PRO_0000029836
up seq anno feature ids: PRO_0000435571
up seq anno feature ids: VAR_084458
up seq anno feature ids: VAR_084459
up seq anno feature ids: VSP_007540

9606:SPACA1
gene id: 9606:SPACA1
uniprot id: Q9HBV2
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: Sperm acrosome membrane-associated protein 1
up seq anno feature ids: PRO_0000248152
up seq anno feature ids: VAR_027258

9606:PRPSAP1
gene id: 9606:PRPSAP1
uniprot id: B4DP31
uniprot id: Q14558
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoribosyl pyrophosphate synthase-associated protein 1
up seq anno comments: Phosphoserine
up seq anno comments: Ribose-phosphate pyrophosphokinase N-terminal
up seq anno feature ids: PRO_0000141079
up seq anno feature ids: VSP_039062

9606:SIK1
gene id: 9606:SIK1
uniprot id: P57059
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Decreased kinase activity without affecting much autophosphorylation status.
up seq anno comments: Disordered
up seq anno comments: Does not autophosphorylation and kinase activity.
up seq anno comments: Impaired autophosphorylation and kinase activity.
up seq anno comments: In DEE30; no change in subcellular location.
up seq anno comments: In a glioblastoma multiforme sample; somatic mutation.
up seq anno comments: In a metastatic melanoma sample; somatic mutation.
up seq anno comments: Loss of interaction with 14-3-3 proteins in response to cAMP signaling and, thus, still able to inhibit TORC activity. Resistant to inhibition by cAMP signaling and, thus, still able to inhibit TORC activity; when associated with A-473.
up seq anno comments: Loss of kinase activity.
up seq anno comments: Phosphoserine; by PKA
up seq anno comments: Phosphoserine; by autocatalysis
up seq anno comments: Phosphothreonine; by CaMK1
up seq anno comments: Phosphothreonine; by LKB1 and GSK3-beta
up seq anno comments: Phosphothreonine; by PKA
up seq anno comments: Polar residues
up seq anno comments: Prevents phosphorylation and activation by STK11/LKB1 complex. Reduced inhibition of CRTC3-mediated transcriptional activity.
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: RK-rich region; required for cAMP responsiveness and nuclear localization
up seq anno comments: Reduced but still present interaction with 14-3-3 proteins in response to cAMP signaling and, thus, still able to inhibit TORC activity.
up seq anno comments: Reduced but still present interaction with 14-3-3 proteins in response to cAMP signaling and, thus, still able to inhibit TORC activity. Resistant to inhibition by cAMP signaling and, thus, still able to inhibit TORC activity; when associated with A-575.
up seq anno comments: Serine/threonine-protein kinase SIK1
up seq anno comments: Strongly reduced but still present interaction with 14-3-3 proteins in response to cAMP signaling and, thus, still able to inhibit TORC activity.
up seq anno comments: UBA
up seq anno feature ids: PRO_0000086659
up seq anno feature ids: VAR_021255
up seq anno feature ids: VAR_033910
up seq anno feature ids: VAR_041087
up seq anno feature ids: VAR_041088
up seq anno feature ids: VAR_041089
up seq anno feature ids: VAR_041090
up seq anno feature ids: VAR_041091
up seq anno feature ids: VAR_041092
up seq anno feature ids: VAR_073701
up seq anno feature ids: VAR_073702
up seq anno feature ids: VAR_073703

9606:MYO1H
gene id: 9606:MYO1H
uniprot id: B4DNW6
up seq anno parent labels: Domain Extent
up seq anno parent labels: Region
up seq anno labels: Domain Extent
up seq anno comments: TH1

9606:ZNF488
gene id: 9606:ZNF488
uniprot id: Q96MN9
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Zinc Finger
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 2
up seq anno comments: Disordered
up seq anno comments: Important for transcriptional repression activity
up seq anno comments: In isoform 2.
up seq anno comments: Nuclear localization signal
up seq anno comments: Zinc finger protein 488
up seq anno feature ids: PRO_0000047612
up seq anno feature ids: VAR_033571
up seq anno feature ids: VAR_033572
up seq anno feature ids: VAR_033573
up seq anno feature ids: VSP_055961

9606:CADM1
gene id: 9606:CADM1
uniprot id: A0A4Z1
uniprot id: Q9BY67
uniprot id: X5D7A8
uniprot id: X5D8W0
uniprot id: X5DQR8
uniprot id: X5DQS5
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cell adhesion molecule 1
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Ig-like
up seq anno comments: Ig-like C2-type 1
up seq anno comments: Ig-like C2-type 2
up seq anno comments: Ig-like V-type
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Nearly abolishes EPB41L3 binding.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Strongly reduced affinity for EPB41L3.
up seq anno feature ids: PRO_0000291968
up seq anno feature ids: PRO_5002621845
up seq anno feature ids: PRO_5004953893
up seq anno feature ids: PRO_5004954306
up seq anno feature ids: PRO_5004954984
up seq anno feature ids: PRO_5014110275
up seq anno feature ids: VAR_061309
up seq anno feature ids: VSP_047405
up seq anno feature ids: VSP_047406
up seq anno feature ids: VSP_047407
up seq anno feature ids: VSP_052461
up seq anno feature ids: VSP_052462

9606:SYCE2
gene id: 9606:SYCE2
uniprot id: Q6PIF2
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Region
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Polar residues
up seq anno comments: Synaptonemal complex central element protein 2
up seq anno feature ids: PRO_0000262562

9606:PSPN
gene id: 9606:PSPN
uniprot id: O60542
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Signal Peptide
up seq anno comments: Interchain
up seq anno comments: Persephin
up seq anno feature ids: PRO_0000034014

9606:CASK
gene id: 9606:CASK
uniprot id: A0A7I2RJN6
uniprot id: O14936
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Calmodulin-binding
up seq anno comments: Disordered
up seq anno comments: Guanylate kinase-like
up seq anno comments: In FGS4; does not reveal significant alterations induced by the mutation substitution; causes a partial skipping of exon 2 of the protein.
up seq anno comments: In MICPCH.
up seq anno comments: In a lung large cell carcinoma sample; somatic mutation.
up seq anno comments: In isoform 2, isoform 4 and isoform 6.
up seq anno comments: In isoform 3, isoform 4 and isoform 5.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: L27
up seq anno comments: L27 1
up seq anno comments: L27 2
up seq anno comments: PDZ
up seq anno comments: Peripheral plasma membrane protein CASK
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by autocatalysis
up seq anno comments: Phosphothreonine
up seq anno comments: Probable disease-associated variant found in a patient with epilepsy and pontocerebellar hypoplasia.
up seq anno comments: Protein kinase
up seq anno comments: Required for interaction with NRXN1 (via C-terminal tail)
up seq anno comments: SH3
up seq anno feature ids: PRO_0000094568
up seq anno feature ids: VAR_041956
up seq anno feature ids: VAR_058719
up seq anno feature ids: VAR_062996
up seq anno feature ids: VAR_062997
up seq anno feature ids: VAR_062998
up seq anno feature ids: VAR_078710
up seq anno feature ids: VSP_024421
up seq anno feature ids: VSP_024422
up seq anno feature ids: VSP_024423
up seq anno feature ids: VSP_024424
up seq anno feature ids: VSP_024425
up seq anno feature ids: VSP_024426

9606:USP2
gene id: 9606:USP2
uniprot id: O75604
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Loss of enzymatic activity. Increases the steady-state level of CCND1.
up seq anno comments: Loss of enzymatic activity. Increases the steady-state level of MDM2 and MDM4 that leads to attenuation of MDM2-mediated degradation of p53/TP53 and MDM4. Increases the level of p53/TP53 and MDM4 ubiquitin conjugates.
up seq anno comments: Necessary for interaction with MDM4
up seq anno comments: Nucleophile
up seq anno comments: Polar residues
up seq anno comments: Proton acceptor
up seq anno comments: USP
up seq anno comments: Ubiquitin carboxyl-terminal hydrolase 2
up seq anno feature ids: PRO_0000080616
up seq anno feature ids: VAR_051519
up seq anno feature ids: VAR_051520
up seq anno feature ids: VSP_005256
up seq anno feature ids: VSP_005257
up seq anno feature ids: VSP_039559
up seq anno feature ids: VSP_039560

9606:ADAMTS16
gene id: 9606:ADAMTS16
uniprot id: Q2XQZ0
uniprot id: Q8TE57
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Motif
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: A disintegrin and metalloproteinase with thrombospondin motifs 16
up seq anno comments: Cysteine switch
up seq anno comments: Disintegrin
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: PLAC
up seq anno comments: Peptidase M12B
up seq anno comments: Pro residues
up seq anno comments: Spacer
up seq anno comments: TSP type-1 1
up seq anno comments: TSP type-1 2
up seq anno comments: TSP type-1 3
up seq anno comments: TSP type-1 4
up seq anno comments: TSP type-1 5
up seq anno comments: TSP type-1 6
up seq anno comments: in inhibited form
up seq anno feature ids: PRO_0000029194
up seq anno feature ids: PRO_0000029195
up seq anno feature ids: PRO_5014586248
up seq anno feature ids: VAR_057076
up seq anno feature ids: VAR_057077
up seq anno feature ids: VAR_057078
up seq anno feature ids: VAR_057079
up seq anno feature ids: VAR_057080
up seq anno feature ids: VSP_007664
up seq anno feature ids: VSP_007665

9606:FIBIN
gene id: 9606:FIBIN
uniprot id: Q8TAL6
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Signal Peptide
up seq anno comments: Fin bud initiation factor homolog
up seq anno comments: Interchain
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000349211

9606:FNDC3B
gene id: 9606:FNDC3B
uniprot id: Q53EP0
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Fibronectin type III domain-containing protein 3B
up seq anno comments: Fibronectin type-III 1
up seq anno comments: Fibronectin type-III 2
up seq anno comments: Fibronectin type-III 3
up seq anno comments: Fibronectin type-III 4
up seq anno comments: Fibronectin type-III 5
up seq anno comments: Fibronectin type-III 6
up seq anno comments: Fibronectin type-III 7
up seq anno comments: Fibronectin type-III 8
up seq anno comments: Fibronectin type-III 9
up seq anno comments: Helical
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000284891
up seq anno feature ids: VAR_031856
up seq anno feature ids: VAR_035921
up seq anno feature ids: VAR_047814
up seq anno feature ids: VSP_024739
up seq anno feature ids: VSP_024740
up seq anno feature ids: VSP_024741
up seq anno feature ids: VSP_024742

9606:CHD2
gene id: 9606:CHD2
uniprot id: O14647
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: CHD1 helical C-terminal domain (CHCT)
up seq anno comments: Chromo 1
up seq anno comments: Chromo 2
up seq anno comments: Chromodomain-helicase-DNA-binding protein 2
up seq anno comments: DEAH box
up seq anno comments: Disordered
up seq anno comments: Found in a patient with progressive myoclonus epilepsy; unknown pathological significance.
up seq anno comments: Helicase ATP-binding
up seq anno comments: Helicase C-terminal
up seq anno comments: In DEE94.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000080226
up seq anno feature ids: VAR_061099
up seq anno feature ids: VAR_070209
up seq anno feature ids: VAR_070210
up seq anno feature ids: VAR_078614
up seq anno feature ids: VAR_078615
up seq anno feature ids: VAR_085039
up seq anno feature ids: VSP_021918
up seq anno feature ids: VSP_021919
up seq anno feature ids: VSP_042791

9606:TMEM88
gene id: 9606:TMEM88
uniprot id: I3L2J3
uniprot id: Q6PEY1
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: Transmembrane protein 88
up seq anno feature ids: PRO_0000251707
up seq anno feature ids: VAR_027702

9606:HYAL1
gene id: 9606:HYAL1
uniprot id: A0A024R2X3
uniprot id: A0A0S2Z3Q0
uniprot id: B3KUI5
uniprot id: Q12794
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: EGF-like
up seq anno comments: Hyaluronidase
up seq anno comments: Hyaluronidase-1
up seq anno comments: In MPS9.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: In isoform 7.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Proton donor
up seq anno feature ids: PRO_0000042622
up seq anno feature ids: PRO_5002790118
up seq anno feature ids: PRO_5014214204
up seq anno feature ids: PRO_5014239279
up seq anno feature ids: VAR_023643
up seq anno feature ids: VSP_015915
up seq anno feature ids: VSP_015916
up seq anno feature ids: VSP_015917
up seq anno feature ids: VSP_015918
up seq anno feature ids: VSP_015919
up seq anno feature ids: VSP_015920
up seq anno feature ids: VSP_015921
up seq anno feature ids: VSP_015922

9606:OPRM1
gene id: 9606:OPRM1
uniprot id: B8K2Q5
uniprot id: G8XRH4
uniprot id: G8XRH5
uniprot id: L0E130
uniprot id: P35372
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Abolishes ligand binding; when associated with A-142 or S-142.
up seq anno comments: Abolishes ligand binding; when associated with A-219 or S-219.
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: Impairs interaction with calmodulin.
up seq anno comments: In isoform 10.
up seq anno comments: In isoform 11.
up seq anno comments: In isoform 12, isoform 14 and isoform 15.
up seq anno comments: In isoform 13.
up seq anno comments: In isoform 14.
up seq anno comments: In isoform 16.
up seq anno comments: In isoform 17.
up seq anno comments: In isoform 18.
up seq anno comments: In isoform 2 and isoform 15.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: In isoform 7.
up seq anno comments: In isoform 8.
up seq anno comments: In isoform 9.
up seq anno comments: Mu-type opioid receptor
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: NPxxY; plays a role in stabilizing the activated conformation of the receptor
up seq anno comments: Phosphoserine

9606:KLHL5
gene id: 9606:KLHL5
uniprot id: Q59HD9
uniprot id: Q7Z6D5
uniprot id: Q96PQ7
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: BTB
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: Kelch 1
up seq anno comments: Kelch 2
up seq anno comments: Kelch 3
up seq anno comments: Kelch 4
up seq anno comments: Kelch 5
up seq anno comments: Kelch 6
up seq anno comments: Kelch-like protein 5
up seq anno feature ids: PRO_0000119105
up seq anno feature ids: VAR_033985
up seq anno feature ids: VAR_050048
up seq anno feature ids: VSP_008619
up seq anno feature ids: VSP_008620
up seq anno feature ids: VSP_045227
up seq anno feature ids: VSP_047111
up seq anno feature ids: VSP_047112

9606:NCAPG
gene id: 9606:NCAPG
uniprot id: Q9BPX3
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Condensin complex subunit 3
up seq anno comments: Disordered
up seq anno comments: HEAT 1
up seq anno comments: HEAT 10
up seq anno comments: HEAT 2
up seq anno comments: HEAT 3
up seq anno comments: HEAT 4
up seq anno comments: HEAT 5
up seq anno comments: HEAT 6
up seq anno comments: HEAT 7
up seq anno comments: HEAT 8
up seq anno comments: HEAT 9
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000095041
up seq anno feature ids: VAR_036125
up seq anno feature ids: VAR_053041
up seq anno feature ids: VAR_053042

9606:MTHFR
gene id: 9606:MTHFR
uniprot id: P42898
uniprot id: Q59GJ6
uniprot id: Q8IU67
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: At homozygosity reduces the risk for colorectal cancer in individuals with adequate folate status; decreased risk for adult acute leukemia; increased risk for NTDFS; increased risk for schizophrenia; thermolabile; decreased affinity for FAD cofactor; 50% reduced activity.
up seq anno comments: Decreased risk for adult acute leukemia; thermolabile; decreased activity.
up seq anno comments: Disordered
up seq anno comments: In MTHFRD.
up seq anno comments: In MTHFRD; decreased affinity for FAD cofactor.
up seq anno comments: In MTHFRD; loss of methylenetetrahydrofolate reductase activity.
up seq anno comments: In MTHFRD; reduced methylenetetrahydrofolate reductase activity; no effect on affinity for NADPH.
up seq anno comments: In MTHFRD; reduced methylenetetrahydrofolate reductase activity; reduced affinity for NADPH.
up seq anno comments: In MTHFRD; reduces methylenetetrahydrofolate reductase activity; no effect on affinity for NADPH.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of S-adenosylmethionine-binding.
up seq anno comments: Methylenetetrahydrofolate reductase (NADPH)
up seq anno comments: No effect on S-adenosylmethionine-binding.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: Proton donor/acceptor
up seq anno feature ids: PRO_0000190245
up seq anno feature ids: VAR_004319
up seq anno feature ids: VAR_004320
up seq anno feature ids: VAR_004321
up seq anno feature ids: VAR_004322
up seq anno feature ids: VAR_004323
up seq anno feature ids: VAR_004324
up seq anno feature ids: VAR_004325
up seq anno feature ids: VAR_009528
up seq anno feature ids: VAR_009530
up seq anno feature ids: VAR_009531
up seq anno feature ids: VAR_009532
up seq anno feature ids: VAR_009533
up seq anno feature ids: VAR_009534
up seq anno feature ids: VAR_009535
up seq anno feature ids: VAR_009536
up seq anno feature ids: VAR_009537
up seq anno feature ids: VAR_014881
up seq anno feature ids: VAR_014882
up seq anno feature ids: VAR_018857
up seq anno feature ids: VAR_018858
up seq anno feature ids: VAR_018859
up seq anno feature ids: VAR_018860
up seq anno feature ids: VAR_050293
up seq anno feature ids: VAR_050294
up seq anno feature ids: VAR_054158

9606:TMTC3
gene id: 9606:TMTC3
uniprot id: A8K321
uniprot id: Q6ZXV5
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: DUF1736
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: In LIS8.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: Protein O-mannosyl-transferase TMTC3
up seq anno comments: TPR
up seq anno comments: TPR 1
up seq anno comments: TPR 10
up seq anno comments: TPR 2
up seq anno comments: TPR 3
up seq anno comments: TPR 4
up seq anno comments: TPR 5
up seq anno comments: TPR 6
up seq anno comments: TPR 7
up seq anno comments: TPR 8
up seq anno comments: TPR 9
up seq anno feature ids: PRO_0000280293
up seq anno feature ids: VAR_077900
up seq anno feature ids: VAR_077901
up seq anno feature ids: VSP_023619

9606:ADAMDEC1
gene id: 9606:ADAMDEC1
uniprot id: B7Z6V5
uniprot id: O15204
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Propeptide
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Propeptide
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: ADAM DEC1
up seq anno comments: Disintegrin
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) (complex) asparagine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Peptidase M12B
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000029146
up seq anno feature ids: PRO_0000029147
up seq anno feature ids: VAR_021848
up seq anno feature ids: VAR_024598
up seq anno feature ids: VSP_043124

9606:ARHGAP27
gene id: 9606:ARHGAP27
uniprot id: Q6ZUM4
uniprot id: Q8N2Y9
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: PH
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Rho GTPase-activating protein 27
up seq anno comments: Rho-GAP
up seq anno comments: SH3
up seq anno comments: WW 1
up seq anno comments: WW 2
up seq anno comments: WW 3
up seq anno feature ids: PRO_0000317578
up seq anno feature ids: VAR_038551
up seq anno feature ids: VSP_031053
up seq anno feature ids: VSP_031054
up seq anno feature ids: VSP_031055
up seq anno feature ids: VSP_031056

9606:SLC25A31
gene id: 9606:SLC25A31
uniprot id: Q9H0C2
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: ADP/ATP translocase 4
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Important for transport activity
up seq anno comments: Mitochondrial intermembrane
up seq anno comments: Mitochondrial matrix
up seq anno comments: Nucleotide carrier signature motif
up seq anno comments: Solcar 1
up seq anno comments: Solcar 2
up seq anno comments: Solcar 3
up seq anno feature ids: PRO_0000297624
up seq anno feature ids: VAR_074177

9606:OR2A5
gene id: 9606:OR2A5
uniprot id: A0A126GW49
uniprot id: Q96R48
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 2A5
up seq anno feature ids: PRO_0000150455
up seq anno feature ids: VAR_053129
up seq anno feature ids: VAR_053130
up seq anno feature ids: VAR_059984

9606:PES1
gene id: 9606:PES1
uniprot id: B2RDF2
uniprot id: B3KTZ6
uniprot id: F6VXF5
uniprot id: O00541
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Acidic residues
up seq anno comments: BRCT
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: In isoform 2.
up seq anno comments: N6-acetyllysine
up seq anno comments: Pescadillo homolog
up seq anno comments: Reduces incorporation into the PeBoW complex and nucleolar localization and impairs maturation of 28S ribosomal RNA.
up seq anno comments: Required for 28S ribosomal RNA processing
up seq anno comments: Slightly impairs nucleolar localization.
up seq anno comments: Sufficient for interaction with MAP1B
up seq anno comments: Sufficient for nucleolar localization
up seq anno feature ids: PRO_0000186188
up seq anno feature ids: VAR_034375
up seq anno feature ids: VAR_053570
up seq anno feature ids: VAR_053571
up seq anno feature ids: VSP_013023

9606:MANBA
gene id: 9606:MANBA
uniprot id: O00462
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Beta-mannosidase
up seq anno comments: Decreased enzyme activity.
up seq anno comments: In MANSB; complete loss of enzyme activity.
up seq anno comments: In MANSB; nearly complete loss of enzyme activity.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No effect on enzyme activity (in vitro).
up seq anno comments: No effect on enzyme activity (in vitro). Decreased protein stability.
up seq anno comments: No effect on enzyme activity (in vitro). No effect on protein stability.
up seq anno comments: Nucleophile
up seq anno comments: Proton donor
up seq anno feature ids: PRO_0000012166
up seq anno feature ids: VAR_026232
up seq anno feature ids: VAR_026233
up seq anno feature ids: VAR_059311
up seq anno feature ids: VAR_081392
up seq anno feature ids: VAR_081393
up seq anno feature ids: VAR_081394
up seq anno feature ids: VAR_081395

9606:SYNCRIP
gene id: 9606:SYNCRIP
uniprot id: A0A7I2YQN2
uniprot id: B7Z645
uniprot id: O60506
uniprot id: Q59GL1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 1-1
up seq anno comments: 1-2
up seq anno comments: 1-3
up seq anno comments: 1-4
up seq anno comments: 1-5
up seq anno comments: 1-6
up seq anno comments: 1-7
up seq anno comments: 1-8
up seq anno comments: 2-1
up seq anno comments: 2-2
up seq anno comments: 2-3
up seq anno comments: 3 X 4 AA repeats of Y-Y-G-Y
up seq anno comments: 8 X 3 AA repeats of R-G-G
up seq anno comments: Asymmetric dimethylarginine; by PRMT1
up seq anno comments: Asymmetric dimethylarginine; by PRMT1; alternate
up seq anno comments: Bipartite nuclear localization signal
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Heterogeneous nuclear ribonucleoprotein Q
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 3, isoform 4 and isoform 5.
up seq anno comments: In isoform 5.
up seq anno comments: Interaction with APOBEC1
up seq anno comments: Interaction with SMN
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: Omega-N-methylarginine; by PRMT1
up seq anno comments: Omega-N-methylarginine; by PRMT1; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: RRM
up seq anno comments: RRM 1
up seq anno comments: RRM 2
up seq anno comments: RRM 3
up seq anno comments: Removed
up seq anno feature ids: PRO_0000081867
up seq anno feature ids: VSP_009581
up seq anno feature ids: VSP_009582
up seq anno feature ids: VSP_009583

9606:HEPN1
gene id: 9606:HEPN1
uniprot id: Q6WQI6
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno comments: Putative cancer susceptibility gene HEPN1 protein
up seq anno feature ids: PRO_0000317106
up seq anno feature ids: VAR_051027

9606:CYP2C18
gene id: 9606:CYP2C18
uniprot id: P33260
uniprot id: Q7Z348
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Cytochrome P450 2C18
up seq anno comments: In isoform 2.
up seq anno comments: axial binding residue
up seq anno feature ids: PRO_0000051707
up seq anno feature ids: VAR_001254
up seq anno feature ids: VSP_042520

9606:USP17L28
gene id: 9606:USP17L28
uniprot id: Q0WX57
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno comments: Abolishes enzymatic activity. Loss of the pro-apoptotic function.
up seq anno comments: Disordered
up seq anno comments: Nucleophile
up seq anno comments: Polar residues
up seq anno comments: Proton acceptor
up seq anno comments: USP
up seq anno comments: Ubiquitin carboxyl-terminal hydrolase 17-like protein 24
up seq anno feature ids: PRO_0000331643

9606:DUSP23
gene id: 9606:DUSP23
uniprot id: A0A140VJI5
uniprot id: Q9BVJ7
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Dual specificity protein phosphatase 23
up seq anno comments: Phosphocysteine intermediate
up seq anno comments: Removed
up seq anno comments: Tyrosine specific protein phosphatases
up seq anno comments: Tyrosine-protein phosphatase
up seq anno feature ids: PRO_0000094835
up seq anno feature ids: VAR_023199
up seq anno feature ids: VAR_051756

9606:SLC5A1
gene id: 9606:SLC5A1
uniprot id: P13866
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Helix
up seq anno parent labels: INTRAMEM
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: INTRAMEM
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Acquires D-mannose and D-allose transporter activity comparable to glucose and galactose.
up seq anno comments: Acquires D-mannose, D-fructose and L-sorbose transporter activity; when associated with A-287 and C-290.
up seq anno comments: Acquires D-mannose, D-fructose and L-sorbose transporter activity; when associated with L-83 and C-290.
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Has no effect on water permeability.
up seq anno comments: Has no effect on water permeation.
up seq anno comments: Has normal D-glucose and D-galactose transporter activity.
up seq anno comments: Helical
up seq anno comments: Implicated in sodium coupling
up seq anno comments: In GGM.
up seq anno comments: In GGM; about 90% reduction in activity.
up seq anno comments: In GGM; about 95% reduction in activity.
up seq anno comments: In GGM; impairs trafficking to the plasma membrane.
up seq anno comments: In GGM; impairs trafficking to the plasma membrane; decreases the sugar affinity.
up seq anno comments: In GGM; loss of activity.
up seq anno comments: In GGM; requires 2 nucleotide substitutions; about 90% reduction in activity.
up seq anno comments: In GGM; slightly decreased activity.
up seq anno comments: In isoform 2.
up seq anno comments: Involved in sugar-binding/transport and inhibitor binding
up seq anno comments: Loss of D-galactose transporter activity. Has strict selectivity for D-glucose. Acquires D-mannose, D-fructose and L-sorbose transporter activity; when associated with A-287 and L-83.
up seq anno comments: Loss of D-glucose transporter activity.
up seq anno comments: Loss of D-glucose transporter activity. Has strict selectivity for D-galactose.
up seq anno comments: Loss of N-glycosylation.
up seq anno comments: Loss of activity.
up seq anno comments: Loss of water permeation.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphothreonine
up seq anno comments: Slightly reduced D-glucose transporter activity.
up seq anno comments: Sodium/glucose cotransporter 1
up seq anno comments: Strong reduction in D-glucose transporter activity.
up seq anno comments: Strong reduction in water permeation.
up seq anno feature ids: PRO_0000105366
up seq anno feature ids: VAR_007168
up seq anno feature ids: VAR_013630
up seq anno feature ids: VAR_021502
up seq anno feature ids: VAR_021503
up seq anno feature ids: VAR_021504
up seq anno feature ids: VAR_029147
up seq anno feature ids: VAR_029148

9606:ASCL2
gene id: 9606:ASCL2
uniprot id: Q99929
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno comments: Achaete-scute homolog 2
up seq anno comments: Disordered
up seq anno comments: Polar residues
up seq anno comments: bHLH
up seq anno feature ids: PRO_0000127130

9606:GNPDA2
gene id: 9606:GNPDA2
uniprot id: Q8TDQ7
up seq anno parent labels: Active Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: For ring-opening step
up seq anno comments: Glucosamine-6-phosphate isomerase 2
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: Phosphothreonine
up seq anno comments: Proton acceptor; for enolization step
up seq anno comments: Proton acceptor; for ring-opening step
up seq anno feature ids: PRO_0000343205
up seq anno feature ids: VAR_044348
up seq anno feature ids: VSP_034579
up seq anno feature ids: VSP_034580
up seq anno feature ids: VSP_047033
up seq anno feature ids: VSP_047034

9606:BDH2
gene id: 9606:BDH2
uniprot id: Q9BUT1
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Dehydrogenase/reductase SDR family member 6
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000042580
up seq anno feature ids: VAR_023602
up seq anno feature ids: VSP_015859
up seq anno feature ids: VSP_039781

9606:C2orf81
gene id: 9606:C2orf81
uniprot id: A0A1W2PQG2
uniprot id: A0A804HJ35
uniprot id: G3XAA6
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Region
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Polar residues

9606:JMJD1C
gene id: 9606:JMJD1C
uniprot id: B7ZLC8
uniprot id: Q15652
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: C6-type
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: JmjC
up seq anno comments: LXXLL motif
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Probable JmjC domain-containing histone demethylation protein 2C
up seq anno feature ids: PRO_0000084284
up seq anno feature ids: VAR_049654
up seq anno feature ids: VAR_049655
up seq anno feature ids: VAR_049656
up seq anno feature ids: VAR_049657
up seq anno feature ids: VAR_049658
up seq anno feature ids: VAR_049659
up seq anno feature ids: VAR_061277
up seq anno feature ids: VSP_018303
up seq anno feature ids: VSP_018304
up seq anno feature ids: VSP_018305
up seq anno feature ids: VSP_043909

9606:LDLRAD2
gene id: 9606:LDLRAD2
uniprot id: Q5SZI1
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: LDL-receptor class A
up seq anno comments: Low-density lipoprotein receptor class A domain-containing protein 2
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000299377
up seq anno feature ids: VAR_034812

9606:TMOD4
gene id: 9606:TMOD4
uniprot id: Q9NZQ9
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Tropomodulin-4
up seq anno feature ids: PRO_0000186136
up seq anno feature ids: VAR_052400
up seq anno feature ids: VSP_056865

9606:PTPRQ
gene id: 9606:PTPRQ
uniprot id: A0A087WZU1
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Signal Peptide
up seq anno labels: Transmembrane
up seq anno comments: Fibronectin type-III
up seq anno comments: Helical
up seq anno comments: Tyrosine specific protein phosphatases
up seq anno comments: Tyrosine-protein phosphatase
up seq anno comments: protein-tyrosine-phosphatase
up seq anno feature ids: PRO_5001832099

9606:TRIM64B
gene id: 9606:TRIM64B
uniprot id: A6NI03
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Site
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Domain Extent
up seq anno labels: Zinc Finger
up seq anno comments: B box-type
up seq anno comments: B30.2/SPRY
up seq anno comments: Putative tripartite motif-containing protein 64B
up seq anno comments: RING-type
up seq anno feature ids: PRO_0000340247

9606:HSD11B1L
gene id: 9606:HSD11B1L
uniprot id: Q7Z5J1
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Disordered
up seq anno comments: Hydroxysteroid 11-beta-dehydrogenase 1-like protein
up seq anno comments: In isoform 2, isoform 5, isoform 6 and isoform 7.
up seq anno comments: In isoform 3 and isoform 6.
up seq anno comments: In isoform 4 and isoform 7.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 8.
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000316816
up seq anno feature ids: VSP_030791
up seq anno feature ids: VSP_030792
up seq anno feature ids: VSP_030793
up seq anno feature ids: VSP_030794
up seq anno feature ids: VSP_030795
up seq anno feature ids: VSP_030796
up seq anno feature ids: VSP_030797

9606:SBNO2
gene id: 9606:SBNO2
uniprot id: Q9Y2G9
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Acidic residues
up seq anno comments: Basic residues
up seq anno comments: Disordered
up seq anno comments: In isoform 2.
up seq anno comments: Protein strawberry notch homolog 2
up seq anno feature ids: PRO_0000314560
up seq anno feature ids: VSP_041216

9606:RAD21
gene id: 9606:RAD21
uniprot id: O60216
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Turn
up seq anno comments: 64-kDa C-terminal product
up seq anno comments: Abolishes binding to SMARCA5.
up seq anno comments: Abolishes first cleavage by ESPL1, no effect on nuclear localization.
up seq anno comments: Abolishes interaction with SMC1.
up seq anno comments: Abolishes second cleavage by ESPL1, no effect on nuclear localization.
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Cleavage; by ESPL1
up seq anno comments: Cleavage; by caspase-3 or caspase-7
up seq anno comments: Disordered
up seq anno comments: Double-strand-break repair protein rad21 homolog
up seq anno comments: Found in a radiation-sensitive cancer patient.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In CDLS4.
up seq anno comments: In MGS; causes delayed food transit along the gut, when tested in zebrafish; may affect RUNX1 and APOB expression.
up seq anno comments: Interaction with NIPBL
up seq anno comments: Interaction with STAG1
up seq anno comments: Interaction with WAPL and PDS5B
up seq anno comments: Loss of cleavage by caspase-3 or caspase-7.
up seq anno comments: No effect on cleavage by caspase-3 or caspase-7.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Required for interaction with SMARCA5
up seq anno feature ids: PRO_0000097872
up seq anno feature ids: PRO_0000446317
up seq anno feature ids: VAR_014281
up seq anno feature ids: VAR_068691
up seq anno feature ids: VAR_068692
up seq anno feature ids: VAR_081285
up seq anno feature ids: VAR_083980

9606:SMG7
gene id: 9606:SMG7
uniprot id: A0A8I5KSL3
uniprot id: E9PD50
uniprot id: Q6TV06
uniprot id: Q92540
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes interaction with UPF1; when associated with E-163.
up seq anno comments: Abolishes interaction with UPF1; when associated with E-66.
up seq anno comments: Basic and acidic residues
up seq anno comments: DNA/RNA-binding
up seq anno comments: Disordered
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 4 and isoform 5.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: N-acetylserine
up seq anno comments: Nonsense-mediated mRNA decay factor SMG7
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno comments: TPR 1
up seq anno comments: TPR 2
up seq anno comments: Telomerase activating protein Est1-like N-terminal
up seq anno feature ids: PRO_0000076324
up seq anno feature ids: VAR_051363
up seq anno feature ids: VAR_051364
up seq anno feature ids: VSP_016574
up seq anno feature ids: VSP_016575
up seq anno feature ids: VSP_016576
up seq anno feature ids: VSP_047130

9606:ABCA8
gene id: 9606:ABCA8
uniprot id: A0A0A0MSU4
uniprot id: O94911
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Transmembrane
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: ABC transporter
up seq anno comments: ABC transporter 1
up seq anno comments: ABC transporter 2
up seq anno comments: ABC-type organic anion transporter ABCA8
up seq anno comments: Affects localization at the plasma membrane; loss of cholesterol efflux to APOA1.
up seq anno comments: Helical
up seq anno comments: In isoform 1.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of expression; loss of cholesterol efflux to APOA1.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000250677
up seq anno feature ids: VAR_027590
up seq anno feature ids: VAR_027591
up seq anno feature ids: VAR_027592
up seq anno feature ids: VAR_027593
up seq anno feature ids: VAR_048130
up seq anno feature ids: VAR_048131
up seq anno feature ids: VAR_048132
up seq anno feature ids: VAR_084139
up seq anno feature ids: VAR_084140
up seq anno feature ids: VSP_060911
up seq anno feature ids: VSP_060912

9606:DEPDC7
gene id: 9606:DEPDC7
uniprot id: Q96QD5
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: DEP
up seq anno comments: DEP domain-containing protein 7
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000307737
up seq anno feature ids: VAR_053972
up seq anno feature ids: VAR_062212
up seq anno feature ids: VSP_047180

9606:WNT1
gene id: 9606:WNT1
uniprot id: P04628
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Lipid Binding
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Lipid Binding
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: In OI15.
up seq anno comments: In OI15; completely fails to activate the Wnt-regulated beta-catenin signaling cascade.
up seq anno comments: In OI15; reduced capacity to activate canonical Wnt signaling.
up seq anno comments: In OSTEOP; associated with susceptibility to early-onset osteoporosis; completely fails to activate the Wnt-regulated beta-catenin signaling cascade.
up seq anno comments: In OSTEOP; reduced capacity to activate canonical Wnt signaling.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: O-palmitoleoyl serine; by PORCN
up seq anno comments: Proto-oncogene Wnt-1
up seq anno feature ids: PRO_0000041405
up seq anno feature ids: VAR_069627
up seq anno feature ids: VAR_069628
up seq anno feature ids: VAR_069629
up seq anno feature ids: VAR_069630
up seq anno feature ids: VAR_069631
up seq anno feature ids: VAR_069632
up seq anno feature ids: VAR_079407
up seq anno feature ids: VAR_079408

9606:GARS1
gene id: 9606:GARS1
uniprot id: P41250
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: Decrease in catalytic activity by about 10-fold.
up seq anno comments: Decrease in catalytic activity by more than 10-fold.
up seq anno comments: Displays 62% of wild-type catalytic activity. Displays 20% of wild-type catalytic activity; when associated with G-125.
up seq anno comments: Found in a patient with mild left ventricular posterior wall hypertrophy, exercise intolerance and lactic acidosis; unknown pathological significance.
up seq anno comments: Glycine--tRNA ligase
up seq anno comments: Has no effect on subcellular localization; results in decreased affinity for glycine.
up seq anno comments: In CMT2D and HMN5A; shows a large reduction in aminoacylation activity.
up seq anno comments: In CMT2D and HMN5A; shows a large reduction in aminoacylation activity; demonstrates a change in the subcellular location pattern; does not associate with granules.
up seq anno comments: In CMT2D.
up seq anno comments: In CMT2D; demonstrates no change in subcellular location pattern.
up seq anno comments: In CMT2D; phenotype overlapping with HMN5A; complements the defect of the wild-type gene in yeast; contrary to the wild-type protein, strongly binds to NRP1 and competes with VEGFA for NRP1-binding; displays slightly elevated aminoacylation activity over wild-type.
up seq anno comments: In CMT2D; shows a large reduction in aminoacylation activity; demonstrates a change in subcellular location pattern; does not associate with granules.
up seq anno comments: In CMT2D; shows a large reduction in aminoacylation activity; demonstrates a change in subcellular location pattern; does not associate with granules; unknown pathological significance.
up seq anno comments: In CMT2D; shows a large reduction in aminoacylation activity; does not impair transcription or translation or protein stability; contrary to the wild-type protein, strongly interacts with NRP1.
up seq anno comments: In CMT2D; shows a reduction in aminoacylation activity.
up seq anno comments: In CMT2D; unknown pathological significance.
up seq anno comments: In HMN5A; does not complement the defect of the wild-type gene in yeast; contrary to the wild-type protein, strongly interacts with NRP1.
up seq anno comments: In HMN5A; higher dimerization stability; loss of activity; shows a large reduction in aminoacylation activity.
up seq anno comments: In HMN5A; shows a large reduction in aminoacylation activity; does not complement the defect of the wild-type gene in yeast.
up seq anno comments: In HMN5A; unknown pathological significance.
up seq anno comments: In SMAJI.
up seq anno comments: In SMAJI; loss of function; based on yeast complementation assay.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of catalytic activity.
up seq anno comments: Mitochondrion
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Probable disease-associated variant found in a patient with growth retardation, microcephaly, thinning of the corpus callosum, decreased white matter and brain stem involvement, as well as large calvaria, cerebellar vermis atrophy, dysmorphic features, prominent epicanthal folds, hypotelorism, high-arched palate, delayed motor milestones, apnea and sparse thin scalp hair; reduces to less than 1% aminoacylation activity.
up seq anno comments: WHEP-TRS
up seq anno feature ids: PRO_0000072998
up seq anno feature ids: VAR_018718
up seq anno feature ids: VAR_018719
up seq anno feature ids: VAR_018720
up seq anno feature ids: VAR_018721
up seq anno feature ids: VAR_054865
up seq anno feature ids: VAR_054866
up seq anno feature ids: VAR_054867
up seq anno feature ids: VAR_073187
up seq anno feature ids: VAR_073188
up seq anno feature ids: VAR_073189
up seq anno feature ids: VAR_073190
up seq anno feature ids: VAR_073191
up seq anno feature ids: VAR_073192
up seq anno feature ids: VAR_073193
up seq anno feature ids: VAR_073194

9606:LRRC56
gene id: 9606:LRRC56
uniprot id: Q8IYG6
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno comments: Disordered
up seq anno comments: In CILD39.
up seq anno comments: LRR 1
up seq anno comments: LRR 2
up seq anno comments: LRR 3
up seq anno comments: LRR 4
up seq anno comments: LRR 5
up seq anno comments: LRRCT
up seq anno comments: Leucine-rich repeat-containing protein 56
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000229923
up seq anno feature ids: VAR_025782
up seq anno feature ids: VAR_025783
up seq anno feature ids: VAR_034090
up seq anno feature ids: VAR_059694
up seq anno feature ids: VAR_061678
up seq anno feature ids: VAR_081775
up seq anno feature ids: VAR_081776

9606:CMTR2
gene id: 9606:CMTR2
uniprot id: Q8IYT2
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Abolishes catalytic activity.
up seq anno comments: Adrift-type SAM-dependent 2'-O-MTase
up seq anno comments: Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2
up seq anno comments: Only mildly affects mRNA cap binding and catalytic activity of the enzyme.
up seq anno comments: Proton acceptor
up seq anno comments: Strongly reduces mRNA cap binding and catalytic activity of the enzyme.
up seq anno feature ids: PRO_0000326180
up seq anno feature ids: VAR_039998
up seq anno feature ids: VAR_039999
up seq anno feature ids: VAR_040000
up seq anno feature ids: VAR_040001
up seq anno feature ids: VAR_040002

9606:NDUFS6
gene id: 9606:NDUFS6
uniprot id: O75380
uniprot id: Q6IBC4
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Strand
up seq anno parent labels: Transit Peptide
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno comments: In MC1DN9.
up seq anno comments: Mitochondrion
up seq anno comments: N6-acetyllysine
up seq anno comments: NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial
up seq anno comments: Zinc finger CHCC-type
up seq anno feature ids: PRO_0000020020
up seq anno feature ids: VAR_078947

9606:ALDH9A1
gene id: 9606:ALDH9A1
uniprot id: P49189
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Initiator Methionine
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 4-trimethylaminobutyraldehyde dehydrogenase
up seq anno comments: 4-trimethylaminobutyraldehyde dehydrogenase, N-terminally processed
up seq anno comments: In allele ALDH9A1*2.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-acetylserine; in 4-trimethylaminobutyraldehyde dehydrogenase, N-terminally processed
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-succinyllysine
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: Nucleophile
up seq anno comments: Proton acceptor
up seq anno comments: Removed; alternate
up seq anno comments: Transition state stabilizer
up seq anno feature ids: PRO_0000056485
up seq anno feature ids: PRO_0000434351
up seq anno feature ids: VAR_011304
up seq anno feature ids: VSP_056305
up seq anno feature ids: VSP_060045

9606:LBH
gene id: 9606:LBH
uniprot id: Q53QV2
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno comments: Disordered
up seq anno comments: LBH
up seq anno comments: Phosphoserine
up seq anno comments: Protein LBH
up seq anno feature ids: PRO_0000324802

9606:XKR7
gene id: 9606:XKR7
uniprot id: Q5GH72
up seq anno parent labels: Chain
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Region
up seq anno labels: Transmembrane
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: XK-related protein 7
up seq anno feature ids: PRO_0000190788

9606:OR5AU1
gene id: 9606:OR5AU1
uniprot id: A0A126GVW7
uniprot id: Q8NGC0
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptors family 1 profile
up seq anno comments: Helical
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Helical; Name=3
up seq anno comments: Helical; Name=4
up seq anno comments: Helical; Name=5
up seq anno comments: Helical; Name=6
up seq anno comments: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 5AU1
up seq anno feature ids: PRO_0000150582
up seq anno feature ids: VAR_047234
up seq anno feature ids: VAR_047235
up seq anno feature ids: VAR_047236
up seq anno feature ids: VAR_062039
up seq anno feature ids: VAR_062040

9606:SOX2
gene id: 9606:SOX2
uniprot id: A0A0U3FYV6
uniprot id: P48431
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: DNA Binding
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno comments: 9aaTAD
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
up seq anno comments: HMG box
up seq anno comments: In MCOPS3; unknown pathological significance.
up seq anno comments: In mt1; reduced nuclear import; when associated with 56-A--A-58. In mt1.2; reduced nuclear import; when associated with 42-A-A-43 and 113-A--A-115.
up seq anno comments: In mt1; reduced nuclear import; when associated with 56-A--A-58. In mt1.2; reduced nuclear import; when associated with 56-A--A-58 and 113-A--A-115.
up seq anno comments: In mt2; reduced nuclear import. In mt1.2; reduced nuclear import; when associated with 42-A-A-43 and 56-A--A-58.
up seq anno comments: Loss of interaction with L3MBTL3. Loss of ubiquitination by the CRL4-DCAF5 E3 ubiquitin ligase complex. Loss of interaction with PHF20L1; when associated with R-117.
up seq anno comments: Loss of interaction with PHF20L1; when associated with R-42.
up seq anno comments: N6-methyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Transcription factor SOX-2
up seq anno feature ids: PRO_0000048715
up seq anno feature ids: VAR_075627
up seq anno feature ids: VAR_075628
up seq anno feature ids: VAR_075629

9606:PCDH20
gene id: 9606:PCDH20
uniprot id: B3KSZ7
uniprot id: Q8N6Y1
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cadherin
up seq anno comments: Cadherin 1
up seq anno comments: Cadherin 2
up seq anno comments: Cadherin 3
up seq anno comments: Cadherin 4
up seq anno comments: Cadherin 5
up seq anno comments: Cadherin 6
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Protocadherin-20
up seq anno feature ids: PRO_0000004005
up seq anno feature ids: VAR_036111

9606:L1CAM
gene id: 9606:L1CAM
uniprot id: P32004
up seq anno parent labels: Chain
up seq anno parent labels: Disulfide Bond
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Signal Peptide
up seq anno parent labels: Splice Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cell attachment site
up seq anno comments: Cytoplasmic
up seq anno comments: Decreased cell-cell adhesion; no effect on subcellular localization; no effect on neurite outgrowth.
up seq anno comments: Disordered
up seq anno comments: Extracellular
up seq anno comments: Fibronectin type-III 1
up seq anno comments: Fibronectin type-III 2
up seq anno comments: Fibronectin type-III 3
up seq anno comments: Fibronectin type-III 4
up seq anno comments: Fibronectin type-III 5
up seq anno comments: Found in a patient with L1 syndrome; unknown pathological significance.
up seq anno comments: Helical
up seq anno comments: Ig-like C2-type 1
up seq anno comments: Ig-like C2-type 2
up seq anno comments: Ig-like C2-type 3
up seq anno comments: Ig-like C2-type 4
up seq anno comments: Ig-like C2-type 5
up seq anno comments: Ig-like C2-type 6
up seq anno comments: In HYCX and ACCPX.
up seq anno comments: In HYCX and MASA.
up seq anno comments: In HYCX and MASA; also found in a patient with the diagnosis of L1 syndrome; also in a patient with hydrocephalus and Hirschsprung disease.
up seq anno comments: In HYCX and MASA; also in a patient with hydrocephalus and Hirschsprung disease.
up seq anno comments: In HYCX and MASA; associated with callosal agenesis; also found in a patient affected by hydrocephalus with Hirschsprung disease.
up seq anno comments: In HYCX and MASA; decrease in neurite outgrowth, when assayed in NGF-treated pheochromocytoma PC12 cells; decrease in cell-matrix adhesion; decreased cell migration; no effect on the localization at the cell surface; no effect on cell proliferation, when transfected in pheochromocytoma PC12 cells.
up seq anno comments: In HYCX.
up seq anno comments: In HYCX; decrease in cell-matrix adhesion; decreased cell migration; no effect on the localization at the cell surface; no effect on cell proliferation, when transfected in pheochromocytoma PC12 cells; no effect on neurite outgrowth, when assayed in NGF-treated pheochromocytoma PC12 cells.
up seq anno comments: In HYCX; partial loss of axon guidance and loss of proper synapse formation, when assayed in a heterologous system.
up seq anno comments: In HYCX; partial loss of localization at the cell surface; retention in the endoplasmic reticulum; in neurons, partial loss of localization to axons, but enriched on proximal dendrites.
up seq anno comments: In HYCX; severe.
up seq anno comments: In HYCX; severe; loss of localization to the cell surface; retention in the endoplasmic reticulum; loss of axon guidance, when assayed in a heterologous system.
up seq anno comments: In HYCX; severe; reduced axon arborization; partial loss of localization at the cell surface; retention in the endoplasmic reticulum; in neurons, restricted to cell bodies and proximal segments of processes; loss of axon guidance and of proper synapse formation, when assayed in a heterologous system.
up seq anno comments: In MASA.
up seq anno comments: In MASA; associated with callosal agenesis.
up seq anno comments: In MASA; decrease in cell-matrix adhesion; decreased cell migration; loss of axon guidance and of proper synapse formation, when assayed in a heterologous system; no effect on the localization at the cell surface; no effect on cell proliferation, when transfected in pheochromocytoma PC12 cells; no effect on neurite outgrowth, when assayed in NGF-treated pheochromocytoma PC12 cells.
up seq anno comments: In MASA; decrease in neurite outgrowth, when assayed in NGF-treated pheochromocytoma PC12 cells; decrease in cell-matrix adhesion; decreased cell migration; no effect on axon guidance, on subcellular location to synaptic terminals, nor on proper synapse formation, when assayed in a heterologous system; no effect on the localization at the cell surface; no effect on cell proliferation, when transfected in pheochromocytoma PC12 cells.
up seq anno comments: In MASA; loss of homophilic interactions at the cell surface; no effect on localization at the cell surface.
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of axon guidance, when assayed in a heterologous system, but normal synapse formation.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Neural cell adhesion molecule L1
up seq anno comments: No effect on axon guidance activity, nor on synapse formation, when assayed in a heterologous system.
up seq anno comments: No effect on localization at the cell surface.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CaMK2
up seq anno comments: Probable disease-associated variant found in L1 syndrome.

9606:TNFAIP8L2
gene id: 9606:TNFAIP8L2
uniprot id: Q6P589
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Turn
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Turn
up seq anno comments: Complete loss of interaction with BTRC.
up seq anno comments: Phosphoserine; by MAP3K7
up seq anno comments: Tumor necrosis factor alpha-induced protein 8-like protein 2
up seq anno feature ids: PRO_0000285771

9606:ATP4A
gene id: 9606:ATP4A
uniprot id: A0A384MR29
uniprot id: P20648
uniprot id: Q658V6
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Non-terminal Residue
up seq anno parent labels: Region
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: 4-aspartylphosphate intermediate
up seq anno comments: Cation-transporting P-type ATPase N-terminal
up seq anno comments: Cytoplasmic
up seq anno comments: Disordered
up seq anno comments: Helical
up seq anno comments: Lumenal
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PKA
up seq anno comments: Phosphotyrosine
up seq anno comments: Potassium-transporting ATPase alpha chain 1
up seq anno feature ids: PRO_0000046253
up seq anno feature ids: VAR_019428

9606:KMT5A
gene id: 9606:KMT5A
uniprot id: E3VVS3
uniprot id: Q9NQR1
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Coiled-Coil
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes histone H4 binding and methyltransferase activity.
up seq anno comments: Abolishes methyltransferase activity.
up seq anno comments: Alters methyltransferase activity, so that both monomethylation and dimethylation take place.
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Disordered
up seq anno comments: Does not affect the interaction with SIRT2. Increases the number of mitotic foci formation. Does not affect methyltransferase activity.
up seq anno comments: In isoform 2.
up seq anno comments: Increases affinity for histone H4.
up seq anno comments: Increases the interaction with SIRT2. Reduces the number of mitotic foci formation. Does not affect methyltransferase activity.
up seq anno comments: N-lysine methyltransferase KMT5A
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: SET
up seq anno comments: Strongly decreases methyltransferase activity.
up seq anno comments: Strongly reduces affinity for histone H4 and abolishes methyltransferase activity.
up seq anno comments: Strongly reduces affinity for histone H4 and methyltransferase activity.
up seq anno comments: Strongly reduces affinity for histone H4.
up seq anno feature ids: PRO_0000186081
up seq anno feature ids: VSP_002226
up seq anno feature ids: VSP_002227

9606:HIPK1
gene id: 9606:HIPK1
uniprot id: B4DZ33
uniprot id: Q86Z02
up seq anno parent labels: Active Site
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Crosslink
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Motif
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disordered
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO); alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: Homeodomain-interacting protein kinase 1
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Interaction with TP53
up seq anno comments: Loss of kinase activity and impaired MAP3K5-JNK inactivation.
up seq anno comments: Loss of kinase activity.
up seq anno comments: Nuclear localization signal 1 (NLS1)
up seq anno comments: Nuclear subcellular location. Impaired sumoylation and cytoplasmic subcellular location; when associated with R-25; R-317; R-440 and R-1203.
up seq anno comments: Nuclear subcellular location. Impaired sumoylation and cytoplasmic subcellular location; when associated with R-25; R-317; R-440 and R-556.
up seq anno comments: Nuclear subcellular location. Impaired sumoylation and cytoplasmic subcellular location; when associated with R-25; R-317; R-556 and R-1203.
up seq anno comments: Nuclear subcellular location. Impaired sumoylation and cytoplasmic subcellular location; when associated with R-25; R-440; R-556 and R-1203.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Reduced sumoylation and cytoplasmic subcellular location. Impaired sumoylation and cytoplasmic subcellular location; when associated with R-317; R-440; R-556 and R-1203.
up seq anno comments: Required for localization to nuclear speckles
up seq anno comments: SUMO interaction motifs (SIM); required for nuclear localization and kinase activity
up seq anno feature ids: PRO_0000085993
up seq anno feature ids: VAR_040546
up seq anno feature ids: VAR_046047
up seq anno feature ids: VAR_051626
up seq anno feature ids: VSP_013127
up seq anno feature ids: VSP_013128
up seq anno feature ids: VSP_013129
up seq anno feature ids: VSP_013130
up seq anno feature ids: VSP_013131

9606:PLPPR1
gene id: 9606:PLPPR1
uniprot id: Q8TBJ4
up seq anno parent labels: Chain
up seq anno parent labels: Experimental Information
up seq anno parent labels: Glycosylation Site
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phospholipid phosphatase-related protein type 1
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000317532

9606:ZNHIT3
gene id: 9606:ZNHIT3
uniprot id: Q15649
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Splice Variant
up seq anno parent labels: Strand
up seq anno parent labels: Turn
up seq anno parent labels: Zinc Finger
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: HIT-type
up seq anno comments: In PEHO; increased protein degradation; decreased protein abundance; does not affect localization to cytoplasm and nucleus.
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Zinc finger HIT domain-containing protein 3
up seq anno feature ids: PRO_0000173550
up seq anno feature ids: VAR_079193
up seq anno feature ids: VSP_055155

9606:NAT8
gene id: 9606:NAT8
uniprot id: Q9UHE5
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Mutagenesis Site
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Topological Domain
up seq anno parent labels: Transmembrane
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: Loss of the cysteine S-conjugate N-acetyltransferase activity. No effect on protein expression.
up seq anno comments: Lumenal
up seq anno comments: N-acetyltransferase
up seq anno comments: N-acetyltransferase 8
up seq anno comments: No effect on the cysteine S-conjugate N-acetyltransferase activity.
up seq anno feature ids: PRO_0000284684
up seq anno feature ids: VAR_031805
up seq anno feature ids: VAR_053886

9606:TCFL5
gene id: 9606:TCFL5
uniprot id: Q86TP4
uniprot id: Q9UL49
up seq anno parent labels: Chain
up seq anno parent labels: Compositionally Biased Region
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Splice Variant
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: BHLH
up seq anno comments: Disordered
up seq anno comments: In isoform 1.
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: R1 epitope (recognized by Chagas's antibodies)
up seq anno comments: R3 epitope (recognized by Chagas's antibodies)
up seq anno comments: Transcription factor-like 5 protein
up seq anno comments: bHLH
up seq anno feature ids: PRO_0000127475
up seq anno feature ids: VAR_049555
up seq anno feature ids: VAR_061263
up seq anno feature ids: VSP_002160
up seq anno feature ids: VSP_030310

9606:CCIN
gene id: 9606:CCIN
uniprot id: Q13939
uniprot id: Q8WWB2
uniprot id: Q8WX35
up seq anno parent labels: Chain
up seq anno parent labels: Domain Extent
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Repeat
up seq anno parent labels: Sequence Conflict
up seq anno parent labels: Sequence Variant
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: BACK
up seq anno comments: BTB
up seq anno comments: Calicin
up seq anno comments: Kelch 1
up seq anno comments: Kelch 2
up seq anno comments: Kelch 3
up seq anno comments: Kelch 4
up seq anno comments: Kelch 5
up seq anno comments: Kelch 6
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000119067
up seq anno feature ids: VAR_050039

9606:MMAB
gene id: 9606:MMAB
uniprot id: Q96EY8
up seq anno parent labels: Binding Site
up seq anno parent labels: Chain
up seq anno parent labels: Helix
up seq anno parent labels: Modification
up seq anno parent labels: Modified Residue
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno parent labels: Secondary Structure
up seq anno parent labels: Sequence Variant
up seq anno parent labels: Site
up seq anno parent labels: Strand
up seq anno parent labels: Transit Peptide
up seq anno parent labels: Turn
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Region
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: Corrinoid adenosyltransferase MMAB
up seq anno comments: Disordered
up seq anno comments: In MMAB.
up seq anno comments: Mitochondrion
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-succinyllysine
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000005568
up seq anno feature ids: VAR_017203
up seq anno feature ids: VAR_017204
up seq anno feature ids: VAR_017205
up seq anno feature ids: VAR_017206
up seq anno feature ids: VAR_017207
up seq anno feature ids: VAR_017208
up seq anno feature ids: VAR_023471
up seq anno feature ids: VAR_038803