9606:MTMR12
gene id: 9606:MTMR12
uniprot id: Q9C0I1
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 labels: Chain
up seq anno labels: Domain Extent
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: In isoform 3.
up seq anno comments: Myotubularin phosphatase
up seq anno comments: Myotubularin-related protein 12
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000315825
up seq anno feature ids: VSP_030721
up seq anno feature ids: VSP_030722

9606:SUPT6H
gene id: 9606:SUPT6H
uniprot id: Q7KZ85
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: Secondary Structure
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: Sequence Conflict
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: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-acetylserine
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: Removed
up seq anno comments: S1 motif
up seq anno comments: SH2
up seq anno comments: Transcription elongation factor SPT6
up seq anno feature ids: PRO_0000072171
up seq anno feature ids: VSP_011505
up seq anno feature ids: VSP_011506
up seq anno feature ids: VSP_011507

9606:C14orf39
gene id: 9606:C14orf39
uniprot id: Q8N1H7
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 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 SPGF52; does not affect protein expression; impairs polycomplex formation between SIX6OS1 and SYCE1.
up seq anno comments: Phosphoserine
up seq anno comments: Protein SIX6OS1
up seq anno feature ids: PRO_0000089888
up seq anno feature ids: VAR_056983
up seq anno feature ids: VAR_056984
up seq anno feature ids: VAR_059715
up seq anno feature ids: VAR_085225

9606:ALDH1B1
gene id: 9606:ALDH1B1
uniprot id: A0A384MTJ7
uniprot id: P30837
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: 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Transit Peptide
up seq anno comments: Aldedh
up seq anno comments: Aldehyde dehydrogenase X, 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 comments: Nucleophile
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000007172
up seq anno feature ids: VAR_002257
up seq anno feature ids: VAR_002258
up seq anno feature ids: VAR_029891
up seq anno feature ids: VAR_029892

9606:VAPB
gene id: 9606:VAPB
uniprot id: O95292
uniprot id: Q53XM7
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: Secondary Structure
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: 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: 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: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)
up seq anno comments: Helical
up seq anno comments: Helical; Anchor for type IV membrane protein
up seq anno comments: In ALS8 and SMAPAD; it forms insoluble cytosolic aggregates; cannot activate the UPR pathway; affects interaction with RMDN3; affects cellular calcium homeostasis; induces mislocalization to the non-ER compartments; enhances homodimerization.
up seq anno comments: In ALS8; it forms insoluble cytosolic aggregates; cannot activate the UPR pathway through ERN1/IRE1 induction; results in ubiquitinated aggregates accumulation and cell death.
up seq anno comments: In isoform 2.
up seq anno comments: MSP
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Prevents binding to the FFAT motif in target proteins; when associated with D-87.
up seq anno comments: Prevents binding to the FFAT motif in target proteins; when associated with D-89.
up seq anno comments: Removed
up seq anno comments: Vesicle-associated membrane protein-associated protein B/C
up seq anno feature ids: PRO_0000213473
up seq anno feature ids: VAR_026743
up seq anno feature ids: VAR_067964
up seq anno feature ids: VSP_003277
up seq anno feature ids: VSP_003278

9606:GATD3
gene id: 9606:GATD3
uniprot id: A0A0B4J2D5
uniprot id: A0A140VKB0
uniprot id: F2Z2Q0
uniprot id: P0DPI2
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 labels: Chain
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: Transit Peptide
up seq anno comments: Glutamine amidotransferase-like class 1 domain-containing protein 3, 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; alternate
up seq anno comments: Putative glutamine amidotransferase-like class 1 domain-containing protein 3B, mitochondrial
up seq anno feature ids: PRO_0000008544
up seq anno feature ids: PRO_5002107040
up seq anno feature ids: PRO_5003294196
up seq anno feature ids: PRO_5007491755
up seq anno feature ids: VAR_020441
up seq anno feature ids: VAR_027921
up seq anno feature ids: VSP_001454
up seq anno feature ids: VSP_059660

9606:ARNT
gene id: 9606:ARNT
uniprot id: A8K6P0
uniprot id: B0AZM1
uniprot id: P27540
uniprot id: Q53F30
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: Secondary Structure
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: 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: Aryl hydrocarbon receptor nuclear translocator
up seq anno comments: BHLH
up seq anno comments: Basic and acidic residues
up seq anno comments: Diminishes DNA interaction.
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-acetylalanine
up seq anno comments: PAC
up seq anno comments: PAS
up seq anno comments: PAS 1
up seq anno comments: PAS 2
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno comments: Severely diminishes DNA interaction.
up seq anno comments: bHLH
up seq anno feature ids: PRO_0000127118
up seq anno feature ids: VAR_014819
up seq anno feature ids: VAR_018906
up seq anno feature ids: VAR_020189
up seq anno feature ids: VAR_024280
up seq anno feature ids: VSP_002092
up seq anno feature ids: VSP_036532
up seq anno feature ids: VSP_036533
up seq anno feature ids: VSP_055030

9606:HEY1
gene id: 9606:HEY1
uniprot id: B4DEI9
uniprot id: Q9Y5J3
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 labels: Chain
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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Hairy/enhancer-of-split related with YRPW motif protein 1
up seq anno comments: In isoform 2.
up seq anno comments: Orange
up seq anno comments: Polar residues
up seq anno comments: YRPW motif
up seq anno comments: bHLH
up seq anno feature ids: PRO_0000127217
up seq anno feature ids: VSP_040997

9606:CPVL
gene id: 9606:CPVL
uniprot id: A0A024RA40
uniprot id: Q9H3G5
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: Site
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Glycosylation 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 comments: Carboxypeptidase
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Probable serine carboxypeptidase CPVL
up seq anno feature ids: PRO_0000004280
up seq anno feature ids: PRO_0000004281
up seq anno feature ids: PRO_5006511738
up seq anno feature ids: VAR_022612
up seq anno feature ids: VAR_048681
up seq anno feature ids: VAR_048682
up seq anno feature ids: VAR_048683

9606:PLD4
gene id: 9606:PLD4
uniprot id: A0A3B3IT68
uniprot id: B4DI07
uniprot id: B4DJQ6
uniprot id: F5H2B5
uniprot id: Q96BZ4
up 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: Site
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: Sequence Variant
up seq anno labels: Transmembrane
up seq anno comments: 5'-3' exonuclease PLD4
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: PLD phosphodiesterase
up seq anno comments: PLD phosphodiesterase 1
up seq anno comments: PLD phosphodiesterase 2
up seq anno feature ids: PRO_0000280333
up seq anno feature ids: VAR_031119
up seq anno feature ids: VAR_031120
up seq anno feature ids: VAR_061751

9606:EFHD2
gene id: 9606:EFHD2
uniprot id: A0A024QZ77
uniprot id: Q96C19
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: 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: Initiator Methionine
up seq anno labels: Modified Residue
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 domain-containing protein D2
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 feature ids: PRO_0000073645

9606:PLA2G7
gene id: 9606:PLA2G7
uniprot id: Q13093
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: Secondary Structure
up seq anno parent labels: Site
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: 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: Activity is higher than wild-type.
up seq anno comments: Almost no activity.
up seq anno comments: Associated with asthma and atopy; retains the ability to associate with HDL particles.
up seq anno comments: Charge relay system
up seq anno comments: Diminishes activity.
up seq anno comments: Impairs the association with HDL particles.
up seq anno comments: Impairs the association with LDL particles.
up seq anno comments: In PAFAD; loss of function.
up seq anno comments: In PAFAD; loss of function; risk factor for coronary arthery disease and stroke.
up seq anno comments: Loss of activity.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No change in activity.
up seq anno comments: Nucleophile
up seq anno comments: Platelet-activating factor acetylhydrolase
up seq anno comments: Reduces the association with HDL particles.
up seq anno comments: Reduces the association with LDL particles.
up seq anno comments: Retains the ability to associate with HDL particles.
up seq anno feature ids: PRO_0000017833
up seq anno feature ids: VAR_004268
up seq anno feature ids: VAR_011583
up seq anno feature ids: VAR_011584
up seq anno feature ids: VAR_011585
up seq anno feature ids: VAR_011586
up seq anno feature ids: VAR_047970
up seq anno feature ids: VAR_047971

9606:SERPINA3
gene id: 9606:SERPINA3
uniprot id: A0A024R6P0
uniprot id: P01011
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: Secondary Structure
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: 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: Alpha-1-antichymotrypsin
up seq anno comments: Alpha-1-antichymotrypsin His-Pro-less
up seq anno comments: Associated with occlusive-cerebrovascular disease; Isehara-1.
up seq anno comments: In Bochum-1.
up seq anno comments: In Bonn-1.
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: SERPIN
up seq anno feature ids: PRO_0000032411
up seq anno feature ids: PRO_0000032412
up seq anno feature ids: PRO_5014214264
up seq anno feature ids: VAR_006973
up seq anno feature ids: VAR_006974
up seq anno feature ids: VAR_006975
up seq anno feature ids: VAR_006976
up seq anno feature ids: VAR_006977
up seq anno feature ids: VAR_011742
up seq anno feature ids: VAR_037902
up seq anno feature ids: VSP_014225
up seq anno feature ids: VSP_014226
up seq anno feature ids: VSP_014227
up seq anno feature ids: VSP_014228

9606:OR2AG1
gene id: 9606:OR2AG1
uniprot id: A0A126GVD0
uniprot id: Q9H205
up 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 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_RECEP_F1_2
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 2AG1
up seq anno feature ids: PRO_0000150472
up seq anno feature ids: VAR_053140
up seq anno feature ids: VAR_059985
up seq anno feature ids: VAR_059986

9606:EPN3
gene id: 9606:EPN3
uniprot id: Q9H201
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: 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: 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
up seq anno comments: 5
up seq anno comments: Basic and acidic residues
up seq anno comments: ENTH
up seq anno comments: Epsin-3
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: UIM 1
up seq anno comments: UIM 2
up seq anno feature ids: PRO_0000074519
up seq anno feature ids: VAR_059973
up seq anno feature ids: VSP_009158
up seq anno feature ids: VSP_009159

9606:HSFX2
gene id: 9606:HSFX2
uniprot id: A0A140VK21
uniprot id: Q9UBD0
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: DNA Binding
up seq anno labels: Domain Extent
up seq anno comments: Basic and acidic residues
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)
up seq anno comments: HSF_DOMAIN
up seq anno comments: Heat shock transcription factor, X-linked
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000339188

9606:CTAG2
gene id: 9606:CTAG2
uniprot id: O75638
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Cancer/testis antigen 2
up seq anno comments: In isoform LAGE-1A.
up seq anno feature ids: PRO_0000218923
up seq anno feature ids: VAR_007855
up seq anno feature ids: VAR_007856
up seq anno feature ids: VAR_057512
up seq anno feature ids: VSP_004301

9606:TMPRSS11F
gene id: 9606:TMPRSS11F
uniprot id: Q6ZWK6
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: 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: Sequence Conflict
up seq anno labels: Sequence 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; Signal-anchor for type II membrane protein
up seq anno comments: Peptidase S1
up seq anno comments: SEA
up seq anno comments: Transmembrane protease serine 11F
up seq anno feature ids: PRO_0000299322
up seq anno feature ids: VAR_034800
up seq anno feature ids: VAR_046636

9606:TMEM205
gene id: 9606:TMEM205
uniprot id: A0A024R7D3
uniprot id: Q6UW68
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: Transmembrane
up seq anno comments: DUF4149
up seq anno comments: Helical
up seq anno comments: Transmembrane protein 205
up seq anno feature ids: PRO_0000317501

9606:RAI2
gene id: 9606:RAI2
uniprot id: Q9Y5P3
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Retinoic acid-induced protein 2
up seq anno feature ids: PRO_0000097161
up seq anno feature ids: VAR_046100
up seq anno feature ids: VAR_046101
up seq anno feature ids: VSP_047524

9606:FRG2
gene id: 9606:FRG2
uniprot id: Q64ET8
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 labels: Chain
up seq anno labels: Compositionally Biased 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: In isoform 2.
up seq anno comments: Polar residues
up seq anno comments: Protein FRG2
up seq anno feature ids: PRO_0000300690
up seq anno feature ids: VSP_055076

9606:TRIML1
gene id: 9606:TRIML1
uniprot id: Q8N9V2
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: B30.2/SPRY
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: Probable E3 ubiquitin-protein ligase TRIML1
up seq anno comments: RING-type
up seq anno feature ids: PRO_0000274598
up seq anno feature ids: VAR_035963
up seq anno feature ids: VAR_052145

9606:SPECC1L
gene id: 9606:SPECC1L
uniprot id: B2RMV2
uniprot id: Q69YQ0
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 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: 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: Cytospin-A
up seq anno comments: In OBLFC1; severely impairs the stabilization of microtubules.
up seq anno comments: In TBHS1; has an abnormal punctate expression pattern; has a drastically reduced ability to stabilize microtubules.
up seq anno comments: In TBHS1; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: No effect on the stabilization of microtubules.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000231018
up seq anno feature ids: VAR_060448
up seq anno feature ids: VAR_060449
up seq anno feature ids: VAR_060450
up seq anno feature ids: VAR_060451
up seq anno feature ids: VAR_060452
up seq anno feature ids: VAR_066872
up seq anno feature ids: VAR_066873
up seq anno feature ids: VAR_073384
up seq anno feature ids: VAR_073385
up seq anno feature ids: VAR_081478
up seq anno feature ids: VAR_081479
up seq anno feature ids: VSP_047359

9606:SPINK7
gene id: 9606:SPINK7
uniprot id: P58062
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 labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno comments: Kazal-like
up seq anno comments: Serine protease inhibitor Kazal-type 7
up seq anno feature ids: PRO_0000016565

9606:DYNC2I1
gene id: 9606:DYNC2I1
uniprot id: A0A140VK66
uniprot id: Q8WVS4
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic dynein 2 intermediate chain 1
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:ATP6V0D1
gene id: 9606:ATP6V0D1
uniprot id: P61421
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: Secondary Structure
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: Strand
up seq anno labels: Turn
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: V-type proton ATPase subunit d 1
up seq anno feature ids: PRO_0000119350

9606:MYO9A
gene id: 9606:MYO9A
uniprot id: B2RTY4
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: 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: 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: Basic and acidic residues
up seq anno comments: Helical
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: IQ 5
up seq anno comments: In CMS24; 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: Myosin motor
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: Polar residues
up seq anno comments: Ras-associating
up seq anno comments: Rho-GAP
up seq anno comments: Unconventional myosin-IXa
up seq anno feature ids: PRO_0000348440
up seq anno feature ids: VAR_046165
up seq anno feature ids: VAR_046166
up seq anno feature ids: VAR_046167
up seq anno feature ids: VAR_046168
up seq anno feature ids: VAR_046169
up seq anno feature ids: VAR_046170
up seq anno feature ids: VAR_046171
up seq anno feature ids: VAR_046172
up seq anno feature ids: VAR_046173
up seq anno feature ids: VAR_046174
up seq anno feature ids: VAR_046175
up seq anno feature ids: VAR_046176
up seq anno feature ids: VAR_046177
up seq anno feature ids: VAR_056189
up seq anno feature ids: VAR_081671
up seq anno feature ids: VAR_081672
up seq anno feature ids: VAR_081673
up seq anno feature ids: VAR_081674
up seq anno feature ids: VAR_081675
up seq anno feature ids: VAR_082148
up seq anno feature ids: VSP_035156
up seq anno feature ids: VSP_035157
up seq anno feature ids: VSP_035158
up seq anno feature ids: VSP_035159
up seq anno feature ids: VSP_035160

9606:IQCC
gene id: 9606:IQCC
uniprot id: Q4KMZ1
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 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: 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: IQ
up seq anno comments: IQ domain-containing protein C
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 feature ids: PRO_0000282545
up seq anno feature ids: VAR_031411
up seq anno feature ids: VAR_031412
up seq anno feature ids: VAR_031413
up seq anno feature ids: VSP_024176
up seq anno feature ids: VSP_046123

9606:C1orf167
gene id: 9606:C1orf167
uniprot id: A0A8I5KXP5
uniprot id: A2VCK6
uniprot id: Q5SNV9
uniprot id: Q8NDG0
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno comments: Uncharacterized protein C1orf167
up seq anno feature ids: PRO_0000306118
up seq anno feature ids: VAR_035266
up seq anno feature ids: VAR_035267
up seq anno feature ids: VAR_035268
up seq anno feature ids: VAR_035269
up seq anno feature ids: VAR_035270
up seq anno feature ids: VAR_035271
up seq anno feature ids: VAR_035272
up seq anno feature ids: VAR_035273
up seq anno feature ids: VAR_035274
up seq anno feature ids: VAR_035275
up seq anno feature ids: VAR_035276
up seq anno feature ids: VSP_028420

9606:PLCB3
gene id: 9606:PLCB3
uniprot id: Q01970
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: Secondary Structure
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: 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: 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3
up seq anno comments: C2
up seq anno comments: In SMDCD; strong reduction in protein levels and marked increase in cellular phosphatidylinositol 4,5 bisphosphate levels in patient cells.
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylalanine
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: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Removed
up seq anno feature ids: PRO_0000088491
up seq anno feature ids: VAR_029229
up seq anno feature ids: VAR_084509
up seq anno feature ids: VSP_046054

9606:ZC3HC1
gene id: 9606:ZC3HC1
uniprot id: Q86WB0
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 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: 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: Zinc Finger
up seq anno comments: Abolishes interaction with SKP1.
up seq anno comments: C3HC-type
up seq anno comments: Does not strongly affect phosphorylation status; when associated with F-105.
up seq anno comments: Does not strongly affect phosphorylation status; when associated with F-137.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Induces a complete cytoplasmic redistribution.
up seq anno comments: Induces a partial cytoplasmic redistribution.
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: Polar residues
up seq anno comments: Removed
up seq anno comments: Strongly reduces phosphorylation and induces the formation of a constitutive SCF(NIPA) E3 complex that degrades CCNB1 at G2/M phase and delays mitotic entry.
up seq anno comments: Zinc finger C3HC-type protein 1
up seq anno feature ids: PRO_0000096849
up seq anno feature ids: VAR_023312
up seq anno feature ids: VAR_023313
up seq anno feature ids: VSP_015217
up seq anno feature ids: VSP_015218

9606:FOXK2
gene id: 9606:FOXK2
uniprot id: Q01167
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: Secondary Structure
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: 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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Abolished SUMOylation; when associated with R-527.
up seq anno comments: Abolished SUMOylation; when associated with R-633.
up seq anno comments: Abolishes DNA-binding.
up seq anno comments: Abolishes interaction with DVL2 and SUDS3 as well as DVL2 nuclear translocation.
up seq anno comments: Decreased phosphorylation leading to increased stability of the protein; when associated with A-373.
up seq anno comments: Decreased phosphorylation leading to increased stability of the protein; when associated with A-428.
up seq anno comments: Decreases DNA-binding to 20%.
up seq anno comments: Decreases DNA-binding to 25%.
up seq anno comments: Decreases DNA-binding to 40%.
up seq anno comments: Decreases DNA-binding to 70%.
up seq anno comments: FHA
up seq anno comments: Fork-head
up seq anno comments: Forkhead box protein K2
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Highly reduces interaction with DVL2.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-acetylalanine
up seq anno comments: No effect on interaction with DVL2.
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphomimetic mutant; decreased phosphorylation leading to decreased stability of the protein; when associated with D-373.
up seq anno comments: Phosphomimetic mutant; decreased phosphorylation leading to decreased stability of the protein; when associated with D-428.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CDK1 and CDK2
up seq anno comments: Polar residues
up seq anno comments: Reduced interaction with BAP1.
up seq anno comments: Removed
up seq anno feature ids: PRO_0000091858
up seq anno feature ids: VSP_001559
up seq anno feature ids: VSP_001560
up seq anno feature ids: VSP_001561

9606:SERPINB13
gene id: 9606:SERPINB13
uniprot id: A0A0A0MQW3
uniprot id: B7Z447
uniprot id: Q9UIV8
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 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 comments: In isoform 2.
up seq anno comments: SERPIN
up seq anno comments: Serpin B13
up seq anno feature ids: PRO_0000094121
up seq anno feature ids: VAR_024356
up seq anno feature ids: VSP_006058

9606:DEFB118
gene id: 9606:DEFB118
uniprot id: A0A384MTK2
uniprot id: Q96PH6
up 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 labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
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 comments: Beta-defensin
up seq anno comments: Defensin beta 118
up seq anno comments: Defensin_beta_2
up seq anno feature ids: PRO_0000006983
up seq anno feature ids: PRO_0000006984
up seq anno feature ids: PRO_5034113193
up seq anno feature ids: VAR_061133

9606:OR3A2
gene id: 9606:OR3A2
uniprot id: A0A126GVQ3
uniprot id: P47893
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 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_RECEP_F1_2
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 3A2
up seq anno feature ids: PRO_0000150518
up seq anno feature ids: VAR_062032

9606:RAD51D
gene id: 9606:RAD51D
uniprot id: O75771
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: Secondary Structure
up seq anno parent labels: 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 comments: DNA repair protein RAD51 homolog 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: In isoform 8.
up seq anno feature ids: PRO_0000122942
up seq anno feature ids: VAR_020560
up seq anno feature ids: VAR_020561
up seq anno feature ids: VAR_020562
up seq anno feature ids: VAR_020563
up seq anno feature ids: VAR_020564
up seq anno feature ids: VAR_079271
up seq anno feature ids: VSP_005558
up seq anno feature ids: VSP_005559
up seq anno feature ids: VSP_005560
up seq anno feature ids: VSP_005561
up seq anno feature ids: VSP_005562
up seq anno feature ids: VSP_005563
up seq anno feature ids: VSP_005564
up seq anno feature ids: VSP_005565
up seq anno feature ids: VSP_005566
up seq anno feature ids: VSP_043658

9606:ZNF207
gene id: 9606:ZNF207
uniprot id: O43670
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: BUB3-interacting and GLEBS motif-containing protein ZNF207
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: In BuGZAA: Abolishes interaction with BUB3.
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: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000047453
up seq anno feature ids: VAR_019974
up seq anno feature ids: VSP_006903
up seq anno feature ids: VSP_006904
up seq anno feature ids: VSP_006905

9606:CABYR
gene id: 9606:CABYR
uniprot id: A0A024RC21
uniprot id: A0A0D9SFQ2
uniprot id: B4DXA8
uniprot id: O75952
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 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: 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: Calcium-binding tyrosine phosphorylation-regulated protein
up seq anno comments: Decreases phosphorylation and interaction with GSK3B. Abolishes phosphorylation and decreases interaction with GSK3B; when associated with A-151.
up seq anno comments: Decreases phosphorylation. Abolishes phosphorylation; when associated with A-155.
up seq anno comments: Does not affect phosphorylation.
up seq anno comments: Does not affect phosphorylation. Does not affect phosphorylation; when associated with A-154.
up seq anno comments: Does not affect phosphorylation. Does not affect phosphorylation; when associated with A-159.
up seq anno comments: In isoform 2.
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: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: RIIa
up seq anno feature ids: PRO_0000089268
up seq anno feature ids: VAR_023818
up seq anno feature ids: VAR_030040
up seq anno feature ids: VAR_030041
up seq anno feature ids: VAR_050709
up seq anno feature ids: VSP_016245
up seq anno feature ids: VSP_016246
up seq anno feature ids: VSP_016247
up seq anno feature ids: VSP_016248
up seq anno feature ids: VSP_016249
up seq anno feature ids: VSP_016250
up seq anno feature ids: VSP_016251

9606:ADAMTSL4
gene id: 9606:ADAMTSL4
uniprot id: A0A669KBE7
uniprot id: B7ZMJ3
uniprot id: Q6UY14
uniprot id: Q9UFG7
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 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: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: ADAMTS-like protein 4
up seq anno comments: Basic and acidic residues
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-linked (GlcNAc...) (complex) asparagine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: PLAC
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: TSP type-1 6
up seq anno feature ids: PRO_0000257966
up seq anno feature ids: PRO_5002867183
up seq anno feature ids: PRO_5025334078
up seq anno feature ids: VAR_061918
up seq anno feature ids: VAR_061919
up seq anno feature ids: VSP_052183
up seq anno feature ids: VSP_052184
up seq anno feature ids: VSP_055759

9606:STMN1
gene id: 9606:STMN1
uniprot id: A0A140VJW2
uniprot id: P16949
up 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 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: Splice Variant
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:IST1
gene id: 9606:IST1
uniprot id: P53990
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: Secondary Structure
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: Splice Variant
up seq anno labels: Turn
up seq anno comments: Abolishes interaction with VTA1, MITD1 and USP8; diminishes interaction with VPS4A.
up seq anno comments: Diminishes interaction with VPS4A. Greatly diminishes interaction with VPS4A and abolishes interaction with VTA1; when associated with A-353. Greatly diminishes interaction with VPS4A; when associated with A-360.
up seq anno comments: Diminishes interaction with VPS4A. Greatly diminishes interaction with VPS4A and abolishes interaction with VTA1; when associated with D-326. Greatly diminishes interaction with VPS4A; when associated with D-323.
up seq anno comments: Diminishes interaction with VPS4A. Greatly diminishes interaction with VPS4A; when associated with A-353.
up seq anno comments: Diminishes interaction with VPS4A. Greatly diminishes interaction with VPS4A; when associated with D-326.
up seq anno comments: IST1 homolog
up seq anno comments: In isoform 2, isoform 3, isoform 4 and isoform 6.
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: MIT-interacting motif
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Type-2 MIT-interacting motif
up seq anno feature ids: PRO_0000050727
up seq anno feature ids: VSP_017118
up seq anno feature ids: VSP_017119
up seq anno feature ids: VSP_017120
up seq anno feature ids: VSP_047075
up seq anno feature ids: VSP_047076
up seq anno feature ids: VSP_055118

9606:CXCL5
gene id: 9606:CXCL5
uniprot id: P42830
uniprot id: Q6I9S7
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 labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Helix
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
up seq anno comments: C-X-C motif chemokine 5
up seq anno comments: ENA-78(8-78)
up seq anno comments: ENA-78(9-78)
up seq anno comments: SCY
up seq anno feature ids: PRO_0000005075
up seq anno feature ids: PRO_0000005076
up seq anno feature ids: PRO_0000005077
up seq anno feature ids: PRO_5014205942

9606:AREL1
gene id: 9606:AREL1
uniprot id: A0A7P0T811
uniprot id: O15033
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: Site
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: 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: Apoptosis-resistant E3 ubiquitin protein ligase 1
up seq anno comments: Failure to form ubiquitin thioester complex.
up seq anno comments: Filamin
up seq anno comments: Glycyl thioester intermediate
up seq anno comments: HECT
up seq anno comments: In isoform 2.
up seq anno comments: Loss of interaction with SOCS2.
up seq anno feature ids: PRO_0000120349
up seq anno feature ids: VAR_083342
up seq anno feature ids: VSP_013259

9606:FBXO39
gene id: 9606:FBXO39
uniprot id: Q8N4B4
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Variant
up seq anno comments: F-box
up seq anno comments: F-box only protein 39
up seq anno feature ids: PRO_0000119935
up seq anno feature ids: VAR_024444
up seq anno feature ids: VAR_024445
up seq anno feature ids: VAR_024446
up seq anno feature ids: VAR_049050
up seq anno feature ids: VAR_049051

9606:TERF2IP
gene id: 9606:TERF2IP
uniprot id: Q9NYB0
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: Secondary Structure
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: 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: BRCT
up seq anno comments: Basic and acidic residues
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Myb-like
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: Telomeric repeat-binding factor 2-interacting protein 1
up seq anno feature ids: PRO_0000197126
up seq anno feature ids: VAR_050195

9606:MORN4
gene id: 9606:MORN4
uniprot id: Q8NDC4
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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: 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 repeat-containing protein 4
up seq anno feature ids: PRO_0000279488
up seq anno feature ids: VSP_023457

9606:SYNE3
gene id: 9606:SYNE3
uniprot id: Q6ZMZ3
up 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 labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
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: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Helical; Anchor for type IV membrane protein
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Interchain (C-563 in SUN2); alternate
up seq anno comments: Interchain (with C-657 in SUN1); alternate
up seq anno comments: KASH
up seq anno comments: Nesprin-3
up seq anno comments: Perinuclear space
up seq anno comments: Spectrin 1
up seq anno comments: Spectrin 2
up seq anno feature ids: PRO_0000281120
up seq anno feature ids: VAR_031231
up seq anno feature ids: VAR_031232
up seq anno feature ids: VAR_031233
up seq anno feature ids: VAR_031234
up seq anno feature ids: VAR_068433
up seq anno feature ids: VSP_023976
up seq anno feature ids: VSP_023977
up seq anno feature ids: VSP_023978

9606:CCDC102A
gene id: 9606:CCDC102A
uniprot id: Q96A19
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 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: Sequence Conflict
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Coiled-coil domain-containing protein 102A
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000274400

9606:PPP1R3C
gene id: 9606:PPP1R3C
uniprot id: Q9UQK1
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 labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno comments: CBM21
up seq anno comments: Found in a patient with progressive myoclonic epilepsy type 2 also carrying two mutations in EPM2B.
up seq anno comments: No effect on interaction with EPM2A; when associated with A-85.
up seq anno comments: No effect on interaction with EPM2A; when associated with A-87.
up seq anno comments: No interaction with EPM2A; when associated with A-247.
up seq anno comments: No interaction with EPM2A; when associated with A-250.
up seq anno comments: PP1-binding motif
up seq anno comments: Protein phosphatase 1 regulatory subunit 3C
up seq anno feature ids: PRO_0000285927
up seq anno feature ids: VAR_059775
up seq anno feature ids: VAR_067339

9606:PROB1
gene id: 9606:PROB1
uniprot id: E7EW31
up seq anno parent labels: Experimental Information
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: Sequence Conflict
up seq anno comments: Basic and acidic residues
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Proline-rich basic protein 1
up seq anno feature ids: PRO_0000413693

9606:PDLIM1
gene id: 9606:PDLIM1
uniprot id: O00151
uniprot id: V9HW92
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: Secondary Structure
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 Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: LIM zinc-binding
up seq anno comments: N-acetylthreonine
up seq anno comments: PDZ
up seq anno comments: PDZ and LIM domain protein 1
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_0000075859
up seq anno feature ids: VAR_022271

9606:LRRC26
gene id: 9606:LRRC26
uniprot id: Q2I0M4
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 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: 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: Cytoplasmic
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-containing protein 26
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000309360
up seq anno feature ids: VSP_040058
up seq anno feature ids: VSP_040205

9606:TCEAL1
gene id: 9606:TCEAL1
uniprot id: Q15170
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 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: 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: Loss of transcriptional repression.
up seq anno comments: No effect on transcriptional repression.
up seq anno comments: Phosphoserine
up seq anno comments: Transcription elongation factor A protein-like 1
up seq anno feature ids: PRO_0000239203
up seq anno feature ids: VAR_057270

9606:TRAM1
gene id: 9606:TRAM1
uniprot id: G3XAN4
uniprot id: Q15629
uniprot id: Q6FHL3
up 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 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: 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: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: TLC
up seq anno comments: Translocating chain-associated membrane protein 1
up seq anno feature ids: PRO_0000185530
up seq anno feature ids: VSP_056213

9606:PEX7
gene id: 9606:PEX7
uniprot id: A0A7I2V2J8
uniprot id: O00628
uniprot id: Q6FGN1
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 labels: Chain
up seq anno labels: Mutagenesis Site
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Impaired binding to cargo proteins containing a PTS2 peroxisomal targeting signal.
up seq anno comments: Impaired interaction with PEX5, leading to decreased peroxisomal import of proteins containing a PTS2 peroxisomal targeting signal.
up seq anno comments: In PBD9B.
up seq anno comments: In RCDP1.
up seq anno comments: In RCDP1; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: Peroxisomal targeting signal 2 receptor
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 feature ids: PRO_0000051116
up seq anno feature ids: VAR_007725
up seq anno feature ids: VAR_007726
up seq anno feature ids: VAR_016810
up seq anno feature ids: VSP_056393

9606:FBXO45
gene id: 9606:FBXO45
uniprot id: P0C2W1
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: Domain Extent
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno comments: B30.2/SPRY
up seq anno comments: F-box
up seq anno comments: F-box/SPRY domain-containing protein 1
up seq anno comments: N-acetylalanine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000285933

9606:RIBC1
gene id: 9606:RIBC1
uniprot id: Q8N443
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 labels: Chain
up seq anno labels: Coiled-Coil
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: RIB43A-like with coiled-coils protein 1
up seq anno feature ids: PRO_0000254093
up seq anno feature ids: VSP_021178
up seq anno feature ids: VSP_021179
up seq anno feature ids: VSP_044834
up seq anno feature ids: VSP_044835

9606:HYPK
gene id: 9606:HYPK
uniprot id: A0A024R5Q1
uniprot id: Q9NX55
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: 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: Mutagenesis Site
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: HYPK_UBA
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 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:DGAT1
gene id: 9606:DGAT1
uniprot id: O75907
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: Secondary Structure
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: 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: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Abolished diacylglycerol O-acyltransferase activity.
up seq anno comments: Cytoplasmic
up seq anno comments: Decreased diacylglycerol O-acyltransferase activity.
up seq anno comments: Diacylglycerol O-acyltransferase 1
up seq anno comments: Does not affect diacylglycerol O-acyltransferase activity.
up seq anno comments: FYXDWWN motif
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: Helical; Name=8
up seq anno comments: Helical; Name=9
up seq anno comments: In DIAR7; unknown pathological significance.
up seq anno comments: Lumenal
up seq anno comments: Phosphoserine
up seq anno comments: Reduced diacylglycerol O-acyltransferase activity.
up seq anno comments: Slightly decreased diacylglycerol O-acyltransferase activity.
up seq anno comments: Strongly reduced diacylglycerol O-acyltransferase activity.
up seq anno feature ids: PRO_0000207654
up seq anno feature ids: VAR_082141

9606:CUL1
gene id: 9606:CUL1
uniprot id: A0A090N7U0
uniprot id: B3KTW0
uniprot id: Q13616
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 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: Strand
up seq anno labels: Turn
up seq anno comments: CULLIN_2
up seq anno comments: Cullin-1
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in NEDD8)
up seq anno comments: Omega-N-methylarginine
up seq anno feature ids: PRO_0000119787

9606:RMC1
gene id: 9606:RMC1
uniprot id: A0A087WZD4
uniprot id: B7Z201
uniprot id: B7Z2Y1
uniprot id: B7Z3Q1
uniprot id: K7ENL9
uniprot id: Q96DM3
up seq anno parent labels: Experimental Information
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: Sequence Conflict
up seq anno comments: Mic1
up seq anno comments: Regulator of MON1-CCZ1 complex
up seq anno feature ids: PRO_0000096481

9606:NIBAN2
gene id: 9606:NIBAN2
uniprot id: A0A024R872
uniprot id: Q96TA1
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: Secondary Structure
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: 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: In isoform 2.
up seq anno comments: Loss of melanoma cell invasion; when associated with A-641; A-646; A-665; A-668 and A-679.
up seq anno comments: Loss of melanoma cell invasion; when associated with A-641; A-646; A-665; A-668 and A-683.
up seq anno comments: Loss of melanoma cell invasion; when associated with A-641; A-646; A-665; A-679 and A-683.
up seq anno comments: Loss of melanoma cell invasion; when associated with A-641; A-646; A-681; A-679 and A-683.
up seq anno comments: Loss of melanoma cell invasion; when associated with A-641; A-665; A-681; A-679 and A-683.
up seq anno comments: Loss of melanoma cell invasion; when associated with A-646; A-665; A-681; A-679 and A-683.
up seq anno comments: N-myristoyl glycine
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: Promotes melanoma cell invasion; when associated with D/E-628; D/E-633; D/E-652; D/E-668 and D/E-679.
up seq anno comments: Promotes melanoma cell invasion; when associated with D/E-628; D/E-633; D/E-652; D/E-668 and D/E-683.
up seq anno comments: Promotes melanoma cell invasion; when associated with D/E-628; D/E-633; D/E-652; D/E-679 and D/E-683.
up seq anno comments: Promotes melanoma cell invasion; when associated with D/E-628; D/E-633; D/E-668; D/E-679 and D/E-683.
up seq anno comments: Promotes melanoma cell invasion; when associated with D/E-628; D/E-652; D/E-668; D/E-679 and D/E-683.
up seq anno comments: Promotes melanoma cell invasion; when associated with D/E-633; D/E-652; D/E-668; D/E-679 and D/E-683.
up seq anno comments: Protein Niban 2
up seq anno comments: Removed
up seq anno feature ids: PRO_0000213121
up seq anno feature ids: VSP_041810

9606:RPE
gene id: 9606:RPE
uniprot id: C9IZU8
uniprot id: C9J9T0
uniprot id: Q96AT9
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: Secondary Structure
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: 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: Alters protein structure.
up seq anno comments: Alters protein structure. Nearly abolishes enzyme activity.
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 5.
up seq anno comments: In isoform 4.
up seq anno comments: Lowers enzyme activity by 10%.
up seq anno comments: N-acetylalanine
up seq anno comments: Nearly abolishes enzyme activity.
up seq anno comments: No effect on enzyme activity.
up seq anno comments: Proton acceptor
up seq anno comments: Proton donor
up seq anno comments: Reduces enzyme activity by half.
up seq anno comments: Removed
up seq anno comments: Ribulose-phosphate 3-epimerase
up seq anno comments: Substrate; via amide nitrogen
up seq anno feature ids: PRO_0000171587
up seq anno feature ids: VSP_008317
up seq anno feature ids: VSP_008318
up seq anno feature ids: VSP_047117
up seq anno feature ids: VSP_055265

9606:ICA1L
gene id: 9606:ICA1L
uniprot id: A0A024R3W3
uniprot id: Q8NDH6
uniprot id: Q96Q33
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: AH
up seq anno comments: In isoform 2.
up seq anno comments: Islet cell autoantigen 1-like protein
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000076175
up seq anno feature ids: VSP_017107

9606:ITLN2
gene id: 9606:ITLN2
uniprot id: Q8WWU7
up 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: 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: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Fibrinogen C-terminal
up seq anno comments: In isoform 2.
up seq anno comments: Intelectin-2
up seq anno feature ids: PRO_0000009149
up seq anno feature ids: VAR_019926
up seq anno feature ids: VAR_049076
up seq anno feature ids: VSP_055093

9606:MYL7
gene id: 9606:MYL7
uniprot id: Q01449
up seq anno parent labels: Modification
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: Initiator Methionine
up seq anno labels: Modified Residue
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: Myosin regulatory light chain 2, atrial isoform
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000198725

9606:AUTS2
gene id: 9606:AUTS2
uniprot id: Q8WXX7
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Autism susceptibility gene 2 protein
up seq anno comments: Basic and acidic residues
up seq anno comments: In isoform 2 and isoform 5.
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: Pro residues
up seq anno feature ids: PRO_0000064767
up seq anno feature ids: VAR_013864
up seq anno feature ids: VSP_003792
up seq anno feature ids: VSP_043556
up seq anno feature ids: VSP_043557
up seq anno feature ids: VSP_057063

9606:IKBKE
gene id: 9606:IKBKE
uniprot id: A0A075B7B4
uniprot id: Q14164
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: 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: Crosslink
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: Decrease in kinase activity.
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 ubiquitin)
up seq anno comments: In isoform 2.
up seq anno comments: Inhibitor of nuclear factor kappa-B kinase subunit epsilon
up seq anno comments: Loss of autophosphorylation and of kinase activity.
up seq anno comments: Loss of kinase activity and loss of nuclear import.
up seq anno comments: Loss of sumoylation and loss of targeting to nuclear bodies.
up seq anno comments: Loss of ubiquitination and decreased kinase activity. Decreases interaction with IKBKB, IKBKG and MYD88. No effect on homodimerization.
up seq anno comments: Loss of ubiquitination and decreased kinase activity. No effect on homodimerization.
up seq anno comments: No effect on ubiquitination.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by autocatalysis and IKKB
up seq anno comments: Phosphothreonine
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Slight decrease of kinase activity.
up seq anno feature ids: PRO_0000086017
up seq anno feature ids: VAR_019989
up seq anno feature ids: VAR_038816
up seq anno feature ids: VAR_038817
up seq anno feature ids: VAR_038818
up seq anno feature ids: VAR_038819
up seq anno feature ids: VAR_038820
up seq anno feature ids: VAR_040571
up seq anno feature ids: VAR_040572
up seq anno feature ids: VSP_044305

9606:SLC24A1
gene id: 9606:SLC24A1
uniprot id: B4DUG1
uniprot id: B4E1W0
uniprot id: F5H127
uniprot id: F5H483
uniprot id: O60721
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 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: 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: Acidic residues
up seq anno comments: Alpha-1
up seq anno comments: Alpha-2
up seq anno comments: Basic and acidic residues
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-linked (GlcNAc...) asparagine
up seq anno comments: Na_Ca_ex
up seq anno comments: Not cleaved
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Sodium/potassium/calcium exchanger 1
up seq anno feature ids: PRO_0000223303
up seq anno feature ids: VAR_050221
up seq anno feature ids: VAR_050222
up seq anno feature ids: VAR_050223
up seq anno feature ids: VSP_006160
up seq anno feature ids: VSP_054491

9606:OR9Q2
gene id: 9606:OR9Q2
uniprot id: A0A126GW85
uniprot id: Q8NGE9
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 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_RECEP_F1_2
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 9Q2
up seq anno feature ids: PRO_0000150684
up seq anno feature ids: VAR_062061

9606:CIDEC
gene id: 9606:CIDEC
uniprot id: A0A0A0MRY9
uniprot id: Q96AQ7
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 labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: CIDE-N
up seq anno comments: Cell death activator CIDE-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 feature ids: PRO_0000144722
up seq anno feature ids: VSP_012738
up seq anno feature ids: VSP_012739
up seq anno feature ids: VSP_012740
up seq anno feature ids: VSP_045051

9606:KATNBL1
gene id: 9606:KATNBL1
uniprot id: A0A024R9P5
uniprot id: Q9H079
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 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 comments: Complete redistribution from the nucleus to the cytoplasm; when associated with A-10; A-11; A-26; A-27; A-28; A-71; A-72; A-73 and A-74.
up seq anno comments: Complete redistribution from the nucleus to the cytoplasm; when associated with A-9; A-10; A-11; A-26; A-27; A-71; A-72; A-73 and A-74.
up seq anno comments: Complete redistribution from the nucleus to the cytoplasm; when associated with A-9; A-10; A-11; A-26; A-28; A-71; A-72; A-73 and A-74.
up seq anno comments: Complete redistribution from the nucleus to the cytoplasm; when associated with A-9; A-10; A-11; A-27; A-28; A-71; A-72; A-73 and A-74.
up seq anno comments: Complete redistribution from the nucleus to the cytoplasm; when associated with A-9; A-10; A-26; A-27; A-28; A-71; A-72; A-73 and A-74.
up seq anno comments: Complete redistribution from the nucleus to the cytoplasm; when associated with A-9; A-11; A-26; A-27; A-28; A-71; A-72; A-73 and A-74.
up seq anno comments: KATNB1-like protein 1
up seq anno comments: Katanin_con80
up seq anno comments: Nuclear localization signal 1
up seq anno comments: Nuclear localization signal 2
up seq anno comments: Phosphoserine
up seq anno comments: Redistributes from the nucleus to both nucleus and cytoplasm; when associated with A-71; A-72 and A-73. Complete redistribution from the nucleus to the cytoplasm; when associated with A-9; A-10; A-11; A-26; A-27; A-28; A-71; A-72 and A-73.
up seq anno comments: Redistributes from the nucleus to both nucleus and cytoplasm; when associated with A-71; A-72 and A-74. Complete redistribution from the nucleus to the cytoplasm; when associated with A-9; A-10; A-11; A-26; A-27; A-28; A-71; A-72 and A-74.
up seq anno comments: Redistributes from the nucleus to both nucleus and cytoplasm; when associated with A-71; A-73 and A-74. Complete redistribution from the nucleus to the cytoplasm; when associated with A-9; A-10; A-11; A-26; A-27; A-28; A-71; A-73 and A-74.
up seq anno comments: Redistributes from the nucleus to both nucleus and cytoplasm; when associated with A-72; A-73 and A-74. Complete redistribution from the nucleus to the cytoplasm; when associated with A-9; A-10; A-11; A-26; A-27; A-28; A-72; A-73 and A-74.
up seq anno feature ids: PRO_0000089981

9606:THOC7
gene id: 9606:THOC7
uniprot id: Q6I9Y2
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 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 comments: N-acetylglycine
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno comments: THO complex subunit 7 homolog
up seq anno feature ids: PRO_0000310754

9606:OR10A6
gene id: 9606:OR10A6
uniprot id: A0A126GVN8
uniprot id: Q8NH74
up 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 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_RECEP_F1_2
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 10A6
up seq anno feature ids: PRO_0000150689
up seq anno feature ids: VAR_053263
up seq anno feature ids: VAR_053264
up seq anno feature ids: VAR_053265

9606:CCL17
gene id: 9606:CCL17
uniprot id: Q92583
up 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 labels: Chain
up seq anno labels: Disulfide Bond
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 comments: C-C motif chemokine 17
up seq anno feature ids: PRO_0000005211
up seq anno feature ids: VAR_048708
up seq anno feature ids: VAR_048709

9606:MINAR2
gene id: 9606:MINAR2
uniprot id: P59773
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: Modified Residue
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: Major intrinsically disordered NOTCH2-binding receptor 1-like
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000157135

9606:COX20
gene id: 9606:COX20
uniprot id: Q5RI15
up 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 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 labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytochrome c oxidase assembly protein COX20, mitochondrial
up seq anno comments: Helical
up seq anno comments: In MC4DN11; reduced protein expression; defective mitochondrial respiratory chain complex IV assembly; decreased interaction with MT-CO2/COX2; increased interaction with TMEM177.
up seq anno comments: In isoform 2.
up seq anno comments: Mitochondrial intermembrane
up seq anno comments: Mitochondrial matrix
up seq anno comments: N-acetylalanine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000186815
up seq anno feature ids: VAR_080123
up seq anno feature ids: VAR_080124
up seq anno feature ids: VSP_014855

9606:VPS35
gene id: 9606:VPS35
uniprot id: Q96QK1
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: Secondary Structure
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: Strand
up seq anno labels: Turn
up seq anno comments: Disrupts interaction with VPS26; no effect on interaction with VPS29.
up seq anno comments: Disrupts interaction with VPS29. Does not effect interaction with VPS26.
up seq anno comments: Found in a consanguineous family with intellectual disability; unknown pathological significance.
up seq anno comments: Found in a patient with Parkinson disease.
up seq anno comments: In PARK17; decreases interaction with WASHC2C, FKBP15 and the WASH complex; impairs recruitment of the WASH complex to endosomes; shows reduced retrograde transport of selective cargo between lysosomes and the Golgi apparatus; shows a progressive reduction in neurite length and branching.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Vacuolar protein sorting-associated protein 35
up seq anno feature ids: PRO_0000065896
up seq anno feature ids: VAR_054046
up seq anno feature ids: VAR_066653
up seq anno feature ids: VAR_066654
up seq anno feature ids: VAR_066655
up seq anno feature ids: VAR_066656
up seq anno feature ids: VAR_066657
up seq anno feature ids: VAR_066658
up seq anno feature ids: VAR_066659
up seq anno feature ids: VAR_066660
up seq anno feature ids: VAR_066661
up seq anno feature ids: VAR_080769

9606:SMAD5
gene id: 9606:SMAD5
uniprot id: Q68DB7
uniprot id: Q99717
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: 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: Sequence Conflict
up seq anno labels: Strand
up seq anno comments: Loss of phosphorylation.
up seq anno comments: MH1
up seq anno comments: MH2
up seq anno comments: Mothers against decapentaplegic homolog 5
up seq anno comments: N-acetylthreonine
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 feature ids: PRO_0000090865

9606:STIP1
gene id: 9606:STIP1
uniprot id: P31948
uniprot id: V9HW72
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: Secondary Structure
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: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Bipartite nuclear localization signal
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: N-acetylmethionine
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: STI1
up seq anno comments: STI1 1
up seq anno comments: STI1 2
up seq anno comments: Stress-induced-phosphoprotein 1
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: TPR 8
up seq anno comments: TPR 9
up seq anno feature ids: PRO_0000106372
up seq anno feature ids: VSP_055034
up seq anno feature ids: VSP_055035

9606:ZNF496
gene id: 9606:ZNF496
uniprot id: Q96IT1
up 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 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: Splice Variant
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: 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: Polar residues
up seq anno comments: SCAN box
up seq anno comments: Zinc finger protein 496
up seq anno feature ids: PRO_0000047617
up seq anno feature ids: VSP_038755

9606:USP9Y
gene id: 9606:USP9Y
uniprot id: O00507
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: 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: 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 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:MBD2
gene id: 9606:MBD2
uniprot id: A0A024R2B8
uniprot id: Q9UBB5
up 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 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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic residues
up seq anno comments: In isoform 3.
up seq anno comments: MBD
up seq anno comments: Methyl-CpG-binding domain protein 2
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000096260
up seq anno feature ids: VSP_011077
up seq anno feature ids: VSP_011078

9606:RSAD1
gene id: 9606:RSAD1
uniprot id: Q9HA92
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: 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 labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transit Peptide
up seq anno comments: In isoform 2.
up seq anno comments: Mitochondrion
up seq anno comments: Radical S-adenosyl methionine domain-containing protein 1, mitochondrial
up seq anno comments: Radical SAM core
up seq anno feature ids: PRO_0000284609
up seq anno feature ids: VAR_031777
up seq anno feature ids: VAR_031778
up seq anno feature ids: VAR_061126
up seq anno feature ids: VSP_056130
up seq anno feature ids: VSP_056131
up seq anno feature ids: VSP_056132

9606:PRSS48
gene id: 9606:PRSS48
uniprot id: A0A140VJJ1
uniprot id: Q7RTY5
up 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: 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: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
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: Peptidase S1
up seq anno comments: Serine protease 48
up seq anno feature ids: PRO_5000095975
up seq anno feature ids: PRO_5007491737
up seq anno feature ids: VAR_042920
up seq anno feature ids: VAR_042921
up seq anno feature ids: VAR_042922
up seq anno feature ids: VSP_033287

9606:KIF1B
gene id: 9606:KIF1B
uniprot id: O60333
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: Secondary Structure
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: 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: Confers susceptibility to neuroblastoma; found as germline mutation in a neuroblastoma patient; loss of ability to induce apoptosis.
up seq anno comments: Confers susceptibility to pheochromocytoma; found as germline mutation in a pheochromocytoma family; loss of ability to induce apoptosis.
up seq anno comments: FHA
up seq anno comments: In CMT2A1.
up seq anno comments: In a medulloblastoma sample; somatic mutation; loss of ability to induce apoptosis.
up seq anno comments: In a pheochromocytoma sample; loss of ability to induce apoptosis.
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: Kinesin motor
up seq anno comments: Kinesin-like protein KIF1B
up seq anno comments: N-acetylserine
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: Removed
up seq anno feature ids: PRO_0000125407
up seq anno feature ids: VAR_011515
up seq anno feature ids: VAR_063531
up seq anno feature ids: VAR_063532
up seq anno feature ids: VAR_063533
up seq anno feature ids: VAR_063534
up seq anno feature ids: VAR_063535
up seq anno feature ids: VAR_063536
up seq anno feature ids: VAR_063537
up seq anno feature ids: VAR_063538
up seq anno feature ids: VSP_002858
up seq anno feature ids: VSP_002859
up seq anno feature ids: VSP_002860
up seq anno feature ids: VSP_002861
up seq anno feature ids: VSP_009381

9606:CGB5
gene id: 9606:CGB5
uniprot id: A0A0F7RQP8
uniprot id: P0DN86
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: Secondary Structure
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: 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: Choriogonadotropin subunit beta 3
up seq anno comments: Cys_knot
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: O-linked (GalNAc...) serine
up seq anno comments: Pro residues
up seq anno comments: Requires 2 nucleotide substitutions.
up seq anno feature ids: CAR_000042
up seq anno feature ids: CAR_000043
up seq anno feature ids: PRO_0000011676
up seq anno feature ids: PRO_5014227020
up seq anno feature ids: VAR_003188
up seq anno feature ids: VAR_014585
up seq anno feature ids: VAR_014586
up seq anno feature ids: VAR_014587
up seq anno feature ids: VAR_015231
up seq anno feature ids: VAR_015232
up seq anno feature ids: VAR_015233
up seq anno feature ids: VAR_015234
up seq anno feature ids: VAR_015235
up seq anno feature ids: VSP_038396

9606:ACSS2
gene id: 9606:ACSS2
uniprot id: Q4G0E8
uniprot id: Q6DKJ3
uniprot id: Q96FY7
uniprot id: Q9NR19
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: 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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: ACAS_N
up seq anno comments: AMP-binding
up seq anno comments: AMP-binding_C
up seq anno comments: Acetyl-coenzyme A synthetase, cytoplasmic
up seq anno comments: In isoform 2.
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000208423
up seq anno feature ids: VSP_046376

9606:PPP1R3G
gene id: 9606:PPP1R3G
uniprot id: B7ZBB8
up 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 labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno comments: CBM21
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:GFPT1
gene id: 9606:GFPT1
uniprot id: Q06210
up 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: 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: 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 labels: Turn
up seq anno comments: For GATase activity
up seq anno comments: Glutamine amidotransferase type-2
up seq anno comments: Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1
up seq anno comments: In CMS12.
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno comments: SIS 1
up seq anno comments: SIS 2
up seq anno feature ids: PRO_0000135280
up seq anno feature ids: VAR_065339
up seq anno feature ids: VAR_065340
up seq anno feature ids: VAR_065341
up seq anno feature ids: VAR_065342
up seq anno feature ids: VAR_065343
up seq anno feature ids: VAR_065344
up seq anno feature ids: VAR_065345
up seq anno feature ids: VAR_065346
up seq anno feature ids: VAR_065347
up seq anno feature ids: VAR_065348
up seq anno feature ids: VAR_065349
up seq anno feature ids: VAR_065350
up seq anno feature ids: VAR_065351
up seq anno feature ids: VSP_007497

9606:FAM20A
gene id: 9606:FAM20A
uniprot id: B7Z4Y3
uniprot id: L8B8N7
uniprot id: Q8IYA5
uniprot id: Q96MK3
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: Secondary Structure
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: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Able to hydrolyze ATP and display some protein kinase activity.
up seq anno comments: Fam20C
up seq anno comments: In AI1G.
up seq anno comments: In AI1G; impaired folding of the protein; abolishes ability to activate FAM20C protein kinase activity.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: Pseudokinase FAM20A
up seq anno feature ids: PRO_0000008743
up seq anno feature ids: VAR_059282
up seq anno feature ids: VAR_059283
up seq anno feature ids: VAR_066859
up seq anno feature ids: VAR_072170
up seq anno feature ids: VAR_072171
up seq anno feature ids: VAR_072172

9606:TNRC6A
gene id: 9606:TNRC6A
uniprot id: Q8NDV7
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 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: 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: Does not impair interaction with AGO2; when associated with A-313; A-345; A-370 and A-420.
up seq anno comments: Does not impair interaction with AGO2; when associated with A-313; A-345; A-370 and A-483.
up seq anno comments: Does not impair interaction with AGO2; when associated with A-313; A-345; A-420 and A-483.
up seq anno comments: Does not impair interaction with AGO2; when associated with A-313; A-370; A-420 and A-483.
up seq anno comments: Does not impair interaction with AGO2; when associated with A-345; A-370; A-420 and A-483.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3 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: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: RRM
up seq anno comments: Trinucleotide repeat-containing gene 6A protein
up seq anno feature ids: PRO_0000081980
up seq anno feature ids: VAR_057251
up seq anno feature ids: VAR_057252
up seq anno feature ids: VAR_057253
up seq anno feature ids: VAR_057254
up seq anno feature ids: VSP_013292
up seq anno feature ids: VSP_013294
up seq anno feature ids: VSP_013295
up seq anno feature ids: VSP_037287
up seq anno feature ids: VSP_037288
up seq anno feature ids: VSP_037289

9606:RECK
gene id: 9606:RECK
uniprot id: A8K9D8
uniprot id: O95980
uniprot id: Q6P9E2
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 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: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
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:SERPINC1
gene id: 9606:SERPINC1
uniprot id: A0A024R944
uniprot id: P01008
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: Secondary Structure
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: Helix
up seq anno labels: Mass
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: Strand
up seq anno labels: Turn
up seq anno comments: Antithrombin-III
up seq anno comments: In AT3D.
up seq anno comments: In AT3D; Dreux; complete loss af heparin binding.
up seq anno comments: In AT3D; Tours/Alger/Amiens/Toyama/Paris-1/Paris-2/Padua-2/Barcelona-2/Kumamoto/Omura/Sasebo; lacks heparin-binding ability.
up seq anno comments: In AT3D; severely decreased antithrombin activity.
up seq anno comments: In AT3D; severely decreased antithrombin activity; low affinity for heparin.
up seq anno comments: In AT3D; type I and type-II.
up seq anno comments: In AT3D; type I.
up seq anno comments: In AT3D; type-I and -II; Whitechapel.
up seq anno comments: In AT3D; type-I.
up seq anno comments: In AT3D; type-I; Budapest-6.
up seq anno comments: In AT3D; type-I; does not undergo post-translational glycosylation.
up seq anno comments: In AT3D; type-I; severely decreased antithrombin activity.
up seq anno comments: In AT3D; type-II.
up seq anno comments: In AT3D; type-II; Budapest-3/Budapest-7.
up seq anno comments: In AT3D; type-II; Budapest-5.
up seq anno comments: In AT3D; type-II; Budapest.
up seq anno comments: In AT3D; type-II; Cambridge-2.
up seq anno comments: In AT3D; type-II; Charleville/Sudbury/Vicenza/Cambridge-1.
up seq anno comments: In AT3D; type-II; Denver/Milano-2; deprived of inhibitory activity.
up seq anno comments: In AT3D; type-II; Geneva.
up seq anno comments: In AT3D; type-II; Glasgow-3.
up seq anno comments: In AT3D; type-II; Glasgow/Sheffield/Chicago/Avranches/Kumamoto-2; increases affinity for heparin; deprived of inhibitory activity.
up seq anno comments: In AT3D; type-II; Hamilton/Glasgow-2; reduces interaction with thrombin by 90%.
up seq anno comments: In AT3D; type-II; Haslar/Whitechapel.
up seq anno comments: In AT3D; type-II; Kyoto.
up seq anno comments: In AT3D; type-II; La Rochelle.
up seq anno comments: In AT3D; type-II; Maisons-Laffite.
up seq anno comments: In AT3D; type-II; Nagasaki; defective heparin binding associated with thrombosis.
up seq anno comments: In AT3D; type-II; Oslo/Paris-3.
up seq anno comments: In AT3D; type-II; Pescara; deprived of inhibitory of activity.
up seq anno comments: In AT3D; type-II; Rosny.
up seq anno comments: In AT3D; type-II; Rouen-1/Padua-1/Bligny/Budapest-2; lack of heparin-binding properties.
up seq anno comments: In AT3D; type-II; Rouen-2; lack of heparin-binding properties.
up seq anno comments: In AT3D; type-II; Rouen-3; lack of heparin-binding properties.
up seq anno comments: In AT3D; type-II; Rouen-4; lack of heparin-binding properties.
up seq anno comments: In AT3D; type-II; Rouen-6; increases affinity for heparin.
up seq anno comments: In AT3D; type-II; Southport.
up seq anno comments: In AT3D; type-II; Stockholm.
up seq anno comments: In AT3D; type-II; Torino.
up seq anno comments: In AT3D; type-II; Truro; increases affinity for heparin.
up seq anno comments: In AT3D; type-II; Utah; deprived of inhibitory activity.
up seq anno comments: In AT3D; type-II; Vienna.
up seq anno comments: In AT3D; type-II; lacks heparin-binding ability.
up seq anno comments: In Dublin.
up seq anno comments: N-linked (GlcNAc...) (complex) asparagine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine; by FAM20C
up seq anno comments: Phosphothreonine; by FAM20C
up seq anno comments: Previously Whitechapel.
up seq anno comments: Reduces interaction with thrombin by 80%.
up seq anno comments: Reduces interaction with thrombin by 99%.
up seq anno comments: SERPIN
up seq anno comments: Variant Thr-414.
up seq anno comments: Variant of uncertain significance.
up seq anno feature ids: PRO_0000032489

9606:WBP11
gene id: 9606:WBP11
uniprot id: A0A024RAW9
uniprot id: Q9Y2W2
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 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: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In VCTRL.
up seq anno comments: In VCTRL; unknown pathological significance.
up seq anno comments: Loss of PQBP1-binding; when associated with A-192 and A-197.
up seq anno comments: Loss of PQBP1-binding; when associated with A-192 and A-198.
up seq anno comments: Loss of PQBP1-binding; when associated with A-197 and A-198.
up seq anno comments: N6-acetyllysine
up seq anno comments: Omega-N-methylarginine
up seq anno comments: PGR
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: WW domain-binding protein 11
up seq anno feature ids: PRO_0000065945
up seq anno feature ids: VAR_085325
up seq anno feature ids: VAR_085326
up seq anno feature ids: VAR_085327
up seq anno feature ids: VAR_085328

9606:PCDHGC5
gene id: 9606:PCDHGC5
uniprot id: Q9Y5F6
up 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 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: 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: 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-C5
up seq anno feature ids: PRO_0000003989
up seq anno feature ids: VAR_024394
up seq anno feature ids: VAR_048574
up seq anno feature ids: VSP_008702
up seq anno feature ids: VSP_008703

9606:DLEC1
gene id: 9606:DLEC1
uniprot id: B1B5Y4
uniprot id: Q9Y238
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Deleted in lung and esophageal cancer 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: Polar residues
up seq anno feature ids: PRO_0000079929
up seq anno feature ids: VAR_035908
up seq anno feature ids: VAR_056860
up seq anno feature ids: VAR_056861
up seq anno feature ids: VAR_056862
up seq anno feature ids: VAR_056863
up seq anno feature ids: VAR_056864
up seq anno feature ids: VSP_051847
up seq anno feature ids: VSP_051848
up seq anno feature ids: VSP_051849
up seq anno feature ids: VSP_051850

9606:DPH6
gene id: 9606:DPH6
uniprot id: Q7L8W6
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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 comments: Diphthine--ammonia ligase
up seq anno comments: In isoform 2.
up seq anno comments: Phosphotyrosine
up seq anno feature ids: PRO_0000282397
up seq anno feature ids: VAR_031403
up seq anno feature ids: VAR_031404
up seq anno feature ids: VSP_042933

9606:ASIP
gene id: 9606:ASIP
uniprot id: P42127
up 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 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: Strand
up seq anno comments: Agouti
up seq anno comments: Agouti-signaling protein
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000001028
up seq anno feature ids: VAR_005003
up seq anno feature ids: VAR_022125

9606:KIAA1191
gene id: 9606:KIAA1191
uniprot id: A0A024R7Q7
uniprot id: A0A087WT18
uniprot id: Q96A73
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Basic and acidic residues
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:CASP8
gene id: 9606:CASP8
uniprot id: A0A024R3Z8
uniprot id: Q14790
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: Secondary Structure
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: 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: (Microbial infection) ADP-riboxanated arginine
up seq anno comments: Abolished ADP-riboxanation by C.violaceum CopC.
up seq anno comments: Abolishes binding to FLASH. Induces NF-kappa-B activation.
up seq anno comments: Abolishes interaction with UBR2.
up seq anno comments: Associated with protection against breast cancer; also associated with a lower risk of cutaneous melanoma.
up seq anno comments: CASPASE_P10
up seq anno comments: CASPASE_P20
up seq anno comments: Caspase-8 subunit p10
up seq anno comments: Caspase-8 subunit p18
up seq anno comments: DED
up seq anno comments: DED 1
up seq anno comments: DED 2
up seq anno comments: Impaired CDK1-mediated phosphorylation and enhanced apoptosis.
up seq anno comments: In CASP8D.
up seq anno comments: In isoform 2, isoform 4 and isoform 8.
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 and isoform 8.
up seq anno comments: In isoform 9.
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CDK1
up seq anno comments: Phosphotyrosine
up seq anno feature ids: PRO_0000004628
up seq anno feature ids: PRO_0000004629
up seq anno feature ids: PRO_0000004630
up seq anno feature ids: PRO_0000004631
up seq anno feature ids: VAR_014204
up seq anno feature ids: VAR_020127
up seq anno feature ids: VAR_025816
up seq anno feature ids: VSP_000808
up seq anno feature ids: VSP_000809
up seq anno feature ids: VSP_000810
up seq anno feature ids: VSP_000811
up seq anno feature ids: VSP_000812
up seq anno feature ids: VSP_000813
up seq anno feature ids: VSP_000814
up seq anno feature ids: VSP_000815
up seq anno feature ids: VSP_000816
up seq anno feature ids: VSP_000817

9606:CKAP5
gene id: 9606:CKAP5
uniprot id: Q14008
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: Secondary Structure
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: 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 localization to spindle microtubules, no effect on localization to centrosomes and kinetochores; when associated with A-1939.
up seq anno comments: Abolishes localization to spindle microtubules, no effect on localization to centrosomes and kinetochores; when associated with A-1942.
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoskeleton-associated protein 5
up seq anno comments: Disrupts interaction with TACC3.
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 isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000089663
up seq anno feature ids: VAR_045627
up seq anno feature ids: VSP_035668
up seq anno feature ids: VSP_036400

9606:OR5V1
gene id: 9606:OR5V1
uniprot id: A0A126GV99
uniprot id: Q9UGF6
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 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: Found in a renal cell carcinoma sample; somatic mutation.
up seq anno comments: G_PROTEIN_RECEP_F1_2
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 5V1
up seq anno feature ids: PRO_0000150617
up seq anno feature ids: VAR_053211
up seq anno feature ids: VAR_053212
up seq anno feature ids: VAR_064740

9606:PPP3CA
gene id: 9606:PPP3CA
uniprot id: A0A0S2Z4B5
uniprot id: A0A0S2Z4C6
uniprot id: Q08209
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: Secondary Structure
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: Motif
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: Strand
up seq anno labels: Turn
up seq anno comments: 3'-nitrotyrosine
up seq anno comments: In ACCIID.
up seq anno comments: In IECEE1.
up seq anno comments: In IECEE1; results in constitutive phosphatase activity in the absence of calmodulin.
up seq anno comments: In IECEE1; 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: In isoform 5.
up seq anno comments: Loss of Ca(2+)-mediated transcription factor NFAT activation; when associated with F-341.
up seq anno comments: N-acetylserine
up seq anno comments: Partial loss of Ca(2+)-mediated transcription factor NFAT activation; when associated with F-341.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Protein phosphatase 3 catalytic subunit alpha
up seq anno comments: Proton donor
up seq anno comments: Removed
up seq anno comments: Resistant to cyclosporin A-mediated inhibition. Loss of Ca(2+)-mediated transcription factor NFAT activation; when associated with N-288, A-228 or 328-V--R-332 DEL. Partial loss in Ca(2+)-mediated transcription factor NFAT activation; when associated with F-288.
up seq anno comments: SAPNY motif
up seq anno comments: SER_THR_PHOSPHATASE
up seq anno feature ids: PRO_0000058822
up seq anno feature ids: VAR_080348
up seq anno feature ids: VAR_080349
up seq anno feature ids: VAR_080350
up seq anno feature ids: VAR_080351
up seq anno feature ids: VAR_080352
up seq anno feature ids: VAR_081900
up seq anno feature ids: VAR_081901
up seq anno feature ids: VAR_081902
up seq anno feature ids: VAR_081903
up seq anno feature ids: VAR_085829
up seq anno feature ids: VSP_018562
up seq anno feature ids: VSP_043378
up seq anno feature ids: VSP_047755
up seq anno feature ids: VSP_054467

9606:GIMD1
gene id: 9606:GIMD1
uniprot id: P0DJR0
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 comments: AIG1-type G
up seq anno comments: GTPase IMAP family member GIMD1
up seq anno feature ids: PRO_0000419199

9606:OR5J2
gene id: 9606:OR5J2
uniprot id: A0A126GVP0
uniprot id: Q8NH18
up 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 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_RECEP_F1_2
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 5J2
up seq anno feature ids: PRO_0000150599
up seq anno feature ids: VAR_034226

9606:NCR2
gene id: 9606:NCR2
uniprot id: O95944
up 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 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 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 and isoform 3.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Natural cytotoxicity triggering receptor 2
up seq anno feature ids: PRO_0000015031
up seq anno feature ids: VAR_018634
up seq anno feature ids: VAR_018635
up seq anno feature ids: VAR_018636
up seq anno feature ids: VAR_018637
up seq anno feature ids: VSP_010409
up seq anno feature ids: VSP_010410

9606:GPATCH4
gene id: 9606:GPATCH4
uniprot id: A0A0A0MRK1
uniprot id: A8KAG1
uniprot id: E9PAV9
up seq anno parent labels: Region
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno comments: Basic and acidic residues
up seq anno comments: G-patch

9606:TST
gene id: 9606:TST
uniprot id: A0A384NKQ2
uniprot id: Q16762
up 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: 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: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno comments: Cysteine persulfide intermediate
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: Removed
up seq anno comments: Rhodanese
up seq anno comments: Rhodanese 1
up seq anno comments: Rhodanese 2
up seq anno comments: Thiosulfate sulfurtransferase
up seq anno feature ids: PRO_0000139395
up seq anno feature ids: VAR_051799
up seq anno feature ids: VAR_051800

9606:CCDC116
gene id: 9606:CCDC116
uniprot id: Q8IYX3
up 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 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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Acidic residues
up seq anno comments: Coiled-coil domain-containing protein 116
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_0000254052
up seq anno feature ids: VAR_028803
up seq anno feature ids: VAR_028804
up seq anno feature ids: VAR_028805
up seq anno feature ids: VAR_028806
up seq anno feature ids: VAR_028807
up seq anno feature ids: VAR_061578
up seq anno feature ids: VSP_059645
up seq anno feature ids: VSP_059646

9606:CREB3L4
gene id: 9606:CREB3L4
uniprot id: Q8TEY5
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 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 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 cleavage by SP1.
up seq anno comments: Cyclic AMP-responsive element-binding protein 3-like protein 4
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: Processed cyclic AMP-responsive element-binding protein 3-like protein 4
up seq anno comments: bZIP
up seq anno feature ids: PRO_0000288079
up seq anno feature ids: PRO_0000296219
up seq anno feature ids: VAR_048444
up seq anno feature ids: VSP_045426

9606:POLD1
gene id: 9606:POLD1
uniprot id: A0A024R4F4
uniprot id: A0A087WYJ2
uniprot id: M0R2B7
uniprot id: P28340
uniprot id: Q308M6
uniprot id: Q59FA0
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: Secondary Structure
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: 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: 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: CysA-type
up seq anno comments: CysB motif
up seq anno comments: DNA polymerase delta catalytic subunit
up seq anno comments: DNA_pol_B
up seq anno comments: DNA_pol_B_exo1
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 comments: zf-C4pol
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:DEFB123
gene id: 9606:DEFB123
uniprot id: Q8N688
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Disulfide Bond
up seq anno labels: Peptide
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Beta-defensin 123
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000006994
up seq anno feature ids: VSP_057460
up seq anno feature ids: VSP_057461

9606:SMN1
gene id: 9606:SMN1
uniprot id: B4DP61
uniprot id: E7EQZ4
uniprot id: Q16637
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: Secondary Structure
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: 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: Impairs GEMIN2 binding.
up seq anno comments: Impairs GEMIN8 binding.
up seq anno comments: Impairs SMN binding to RPP20/POP7. Abolishes the interaction with ELAVL4. Abolishes interaction with SNRPD1 and SNRPD3. Impairs binding to substrate containing dimethylated arginine.
up seq anno comments: Impairs binding to substrate containing dimethylated arginine.
up seq anno comments: Impairs homooligomerization and GEMIN8 binding.
up seq anno comments: Impairs homooligomerization.
up seq anno comments: In SMA1; abolishes SMN1 binding to RPP20/POP7 and severely impairs binding to SNRPB, GEMIN8 and homooligomerization.
up seq anno comments: In SMA1; abolishes the interaction with ELAVL4.
up seq anno comments: In SMA1; slightly reduces SMN binding to RPP20/POP7. Impairs homooligomerization and axon localization.
up seq anno comments: In SMA2 and SMA3.
up seq anno comments: In SMA2 and SMA3; Impairs SMN1 binding to RPP20/POP7, GEMIN8 and homooligomerization.
up seq anno comments: In SMA2.
up seq anno comments: In SMA2; reduces SMN binding to Sm proteins; abolishes the interaction with ELAVL4.
up seq anno comments: In SMA3.
up seq anno comments: In SMA3; impairs GEMIN2 binding.
up seq anno comments: In SMA3; impairs homooligomerization..
up seq anno comments: In SMA3; reduces SMN binding to Sm proteins.
up seq anno comments: In SMA3; slightly reduces SMN binding to RPP20/POP7.
up seq anno comments: In isoform SMN-delta5 and isoform SMN-delta57.
up seq anno comments: In isoform SMN-delta7 and isoform SMN-delta57.
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PKA
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by PKA
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Removed
up seq anno comments: SMN
up seq anno comments: Survival motor neuron protein
up seq anno comments: Tudor
up seq anno feature ids: PRO_0000218903
up seq anno feature ids: VAR_005615
up seq anno feature ids: VAR_005616
up seq anno feature ids: VAR_005617
up seq anno feature ids: VAR_005618
up seq anno feature ids: VAR_005619
up seq anno feature ids: VAR_005620
up seq anno feature ids: VAR_007990
up seq anno feature ids: VAR_010051
up seq anno feature ids: VAR_034803
up seq anno feature ids: VAR_034804
up seq anno feature ids: VAR_034805
up seq anno feature ids: VAR_034806
up seq anno feature ids: VAR_034807
up seq anno feature ids: VAR_034808
up seq anno feature ids: VAR_034809
up seq anno feature ids: VSP_006183
up seq anno feature ids: VSP_006184
up seq anno feature ids: VSP_006185

9606:LY75
gene id: 9606:LY75
uniprot id: O60449
uniprot id: Q59H44
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: Secondary Structure
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:COMMD4
gene id: 9606:COMMD4
uniprot id: A0A0B4J287
uniprot id: Q9H0A8
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Splice Variant
up seq anno comments: COMM
up seq anno comments: COMM domain-containing protein 4
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno feature ids: PRO_0000077393
up seq anno feature ids: VSP_011394
up seq anno feature ids: VSP_055664

9606:IPO4
gene id: 9606:IPO4
uniprot id: B3KT38
uniprot id: Q8TEX9
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: Secondary Structure
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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: HEAT
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: HEAT 6
up seq anno comments: Importin N-terminal
up seq anno comments: Importin-4
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylmethionine
up seq anno comments: TOG
up seq anno feature ids: PRO_0000120748
up seq anno feature ids: VAR_030758
up seq anno feature ids: VAR_030759
up seq anno feature ids: VSP_009339

9606:A2ML1
gene id: 9606:A2ML1
uniprot id: A8K2U0
uniprot id: B3KVV6
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: A2M
up seq anno comments: A2M_N_2
up seq anno comments: A2M_recep
up seq anno comments: Alpha-2-macroglobulin-like protein 1
up seq anno comments: In isoform 2.
up seq anno comments: Isoglutamyl cysteine thioester (Cys-Gln)
up seq anno comments: May be a risk factor for otitis media.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Risk factor for otitis media.
up seq anno feature ids: PRO_0000318074
up seq anno feature ids: VAR_055463
up seq anno feature ids: VAR_055464
up seq anno feature ids: VAR_055465
up seq anno feature ids: VAR_055466
up seq anno feature ids: VAR_059083
up seq anno feature ids: VAR_059084
up seq anno feature ids: VAR_071854
up seq anno feature ids: VAR_071855
up seq anno feature ids: VAR_071856
up seq anno feature ids: VAR_081009
up seq anno feature ids: VAR_081010
up seq anno feature ids: VAR_081011
up seq anno feature ids: VAR_081012
up seq anno feature ids: VAR_081013
up seq anno feature ids: VAR_081014
up seq anno feature ids: VAR_081015
up seq anno feature ids: VSP_057135

9606:LOC102724652
gene id: 9606:LOC102724652
uniprot id: A0A8C8KJZ9
uniprot id: P02489
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: 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: Mass
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: Alpha-crystallin A chain
up seq anno comments: Alpha-crystallin A(1-162)
up seq anno comments: Alpha-crystallin A(1-168)
up seq anno comments: Alpha-crystallin A(1-172)
up seq anno comments: Deamidated asparagine; partial
up seq anno comments: Deamidated glutamine; partial
up seq anno comments: Impairs chaperone activity.
up seq anno comments: In CTRCT9.
up seq anno comments: In CTRCT9; associated with macular hypoplasia and a generally hypopigmented fundus.
up seq anno comments: In CTRCT9; decreases oligomer formation.
up seq anno comments: In CTRCT9; delays HSP70 expression increase in response to heat shock.
up seq anno comments: In CTRCT9; forms inclusion bodies, decreases chaperone activity, decreases protein stability at 45 degrees Celsius and increases protein aggregate formation in response to DTT in vitro.
up seq anno comments: In CTRCT9; reduces protein solubility.
up seq anno comments: In CTRCT9; results in protein aggregation in the cytoplasm.
up seq anno comments: In CTRCT9; reverse phase-high-performance liquid chromatography suggests an increased hydrophobicity of the mutant protein; loss of chaperone activity of the mutant is seen in DL-dithiothreitol-induced insulin aggregation assay; fast protein liquid chromatography purification shows that the mutant protein has increased binding affinity to lysozyme.
up seq anno comments: In CTRCT9; unknown pathological significance.
up seq anno comments: In CTRCT9; unknown pathological significance; reduced chaperone-like activity in vitro.
up seq anno comments: In CTRCT9; zonular central nuclear cataract; reduced chaperone-like activity and increased membrane-binding capacity.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: N-acetylmethionine
up seq anno comments: N6-acetyllysine
up seq anno comments: O-linked (GlcNAc) serine
up seq anno comments: Phosphoserine
up seq anno comments: SHSP
up seq anno comments: With 1 phosphate group.
up seq anno comments: sHSP
up seq anno feature ids: PRO_0000125865
up seq anno feature ids: PRO_0000226639
up seq anno feature ids: PRO_0000423503
up seq anno feature ids: PRO_0000423504
up seq anno feature ids: VAR_003819
up seq anno feature ids: VAR_036564
up seq anno feature ids: VAR_038375
up seq anno feature ids: VAR_046892
up seq anno feature ids: VAR_046893
up seq anno feature ids: VAR_070032
up seq anno feature ids: VAR_084768
up seq anno feature ids: VAR_084769
up seq anno feature ids: VAR_084770
up seq anno feature ids: VAR_084771
up seq anno feature ids: VAR_084772
up seq anno feature ids: VAR_084773
up seq anno feature ids: VAR_084774
up seq anno feature ids: VAR_084775
up seq anno feature ids: VAR_084776
up seq anno feature ids: VAR_084777
up seq anno feature ids: VAR_084778
up seq anno feature ids: VAR_084779
up seq anno feature ids: VAR_084780
up seq anno feature ids: VAR_084781

9606:SRPRB
gene id: 9606:SRPRB
uniprot id: Q549N5
uniprot id: Q9Y5M8
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: 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 labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Signal recognition particle receptor subunit beta
up seq anno feature ids: PRO_0000101227
up seq anno feature ids: VAR_057335

9606:MYH14
gene id: 9606:MYH14
uniprot id: A1L2Z2
uniprot id: B3KWH4
uniprot id: Q7Z406
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: Secondary Structure
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: 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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: IQ
up seq anno comments: In DFNA4A.
up seq anno comments: In PNMHH.
up seq anno comments: In isoform 2 and isoform 6.
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: Myosin N-terminal SH3-like
up seq anno comments: Myosin motor
up seq anno comments: Myosin-14
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000123431
up seq anno feature ids: VAR_022866
up seq anno feature ids: VAR_022867
up seq anno feature ids: VAR_022868
up seq anno feature ids: VAR_022869
up seq anno feature ids: VAR_022870
up seq anno feature ids: VAR_037302
up seq anno feature ids: VAR_056176
up seq anno feature ids: VAR_056177
up seq anno feature ids: VAR_056178
up seq anno feature ids: VAR_066338
up seq anno feature ids: VAR_066339
up seq anno feature ids: VSP_014628
up seq anno feature ids: VSP_014629
up seq anno feature ids: VSP_014630
up seq anno feature ids: VSP_040881
up seq anno feature ids: VSP_040882

9606:ZNF221
gene id: 9606:ZNF221
uniprot id: Q9UK13
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 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:SLC9A3R1
gene id: 9606:SLC9A3R1
uniprot id: O14745
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: Secondary Structure
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: 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: 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:TRIM71
gene id: 9606:TRIM71
uniprot id: Q2Q1W2
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: 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: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: Abolishes repression on mRNA. Abolishes interaction with AGO2, PABPC1 and PUM2. Increases interaction with HSP90AA1.
up seq anno comments: B box-type 1; atypical
up seq anno comments: B box-type 2
up seq anno comments: Decreases repression on mRNA. Abolishes interaction with AGO2, HSP90AA1, PABPC1 and PUM2.
up seq anno comments: Decreases repression on mRNA. Decreases interaction with HSP90AA1. Abolishes interaction with PABPC1 and PUM2. Increases interaction with AGO2.
up seq anno comments: E3 ubiquitin-protein ligase TRIM71
up seq anno comments: Filamin
up seq anno comments: In HYDCC1.
up seq anno comments: N-acetylalanine
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: NHL 6
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: RING-type
up seq anno comments: Removed
up seq anno comments: Strongly decreases repression on mRNA.
up seq anno feature ids: PRO_0000279511
up seq anno feature ids: VAR_083426
up seq anno feature ids: VAR_083427

9606:TSPY10
gene id: 9606:TSPY10
uniprot id: P0CV98
uniprot id: P0CW01
uniprot id: Q01534
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Testis-specific Y-encoded protein 1
up seq anno comments: Testis-specific Y-encoded protein 10
up seq anno comments: Testis-specific Y-encoded protein 3
up seq anno feature ids: PRO_0000185668
up seq anno feature ids: PRO_0000408001
up seq anno feature ids: PRO_0000408004
up seq anno feature ids: VAR_016226
up seq anno feature ids: VAR_016227
up seq anno feature ids: VAR_016228
up seq anno feature ids: VSP_008012

9606:OR10T2
gene id: 9606:OR10T2
uniprot id: A0A126GV74
uniprot id: Q8NGX3
up 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 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_RECEP_F1_2
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 10T2
up seq anno feature ids: PRO_0000150717
up seq anno feature ids: VAR_053284
up seq anno feature ids: VAR_053285
up seq anno feature ids: VAR_053286
up seq anno feature ids: VAR_053287
up seq anno feature ids: VAR_053288
up seq anno feature ids: VAR_053289

9606:TAS2R31
gene id: 9606:TAS2R31
uniprot id: P59538
up 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 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:GCH1
gene id: 9606:GCH1
uniprot id: A0A024R642
uniprot id: P30793
uniprot id: Q8IZH9
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: Secondary Structure
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: Helix
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 labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Found in patients with DRD; unknown pathological significance.
up seq anno comments: GTP cyclohydrolase 1
up seq anno comments: GTP_cyclohydroI
up seq anno comments: In DRD.
up seq anno comments: In HGCH-3.
up seq anno comments: In HPABH4B and DRD; phenotype presenting with dystonia and myoclonus.
up seq anno comments: In HPABH4B; intermediate phenotype presenting with dystonia and motor delay.
up seq anno comments: In HPABH4B; severe hyperphenylalaninemia.
up seq anno comments: In isoform GCH-2.
up seq anno comments: In isoform GCH-3.
up seq anno comments: In isoform GCH-4.
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000119478
up seq anno feature ids: VAR_002632
up seq anno feature ids: VAR_002633
up seq anno feature ids: VAR_002634
up seq anno feature ids: VAR_002635
up seq anno feature ids: VAR_002636
up seq anno feature ids: VAR_002637
up seq anno feature ids: VAR_002638
up seq anno feature ids: VAR_002639
up seq anno feature ids: VAR_002640
up seq anno feature ids: VAR_002641
up seq anno feature ids: VAR_002642
up seq anno feature ids: VAR_002643
up seq anno feature ids: VAR_002644
up seq anno feature ids: VAR_002645
up seq anno feature ids: VAR_002646
up seq anno feature ids: VAR_002647
up seq anno feature ids: VAR_002648
up seq anno feature ids: VAR_002649
up seq anno feature ids: VAR_016888
up seq anno feature ids: VAR_016889
up seq anno feature ids: VAR_016890
up seq anno feature ids: VAR_016891
up seq anno feature ids: VAR_016892
up seq anno feature ids: VAR_016893
up seq anno feature ids: VAR_016894
up seq anno feature ids: VAR_016895
up seq anno feature ids: VAR_016896
up seq anno feature ids: VAR_016897
up seq anno feature ids: VAR_016898
up seq anno feature ids: VAR_016899
up seq anno feature ids: VAR_016900
up seq anno feature ids: VAR_016901
up seq anno feature ids: VAR_016902
up seq anno feature ids: VAR_016903
up seq anno feature ids: VAR_016904
up seq anno feature ids: VAR_016905
up seq anno feature ids: VAR_016906
up seq anno feature ids: VAR_016907
up seq anno feature ids: VAR_054112
up seq anno feature ids: VAR_072733
up seq anno feature ids: VAR_072734
up seq anno feature ids: VAR_072735
up seq anno feature ids: VSP_001610

9606:BAIAP2L1
gene id: 9606:BAIAP2L1
uniprot id: Q9UHR4
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: Secondary Structure
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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno comments: Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1
up seq anno comments: IMD
up seq anno comments: Loss ability to induce the formation of actin clusters; induce the formation of long filopodia.
up seq anno comments: Loss ability to induce the formation of actin clusters; when associated with K-141; K-142 and K-146.
up seq anno comments: Loss ability to induce the formation of actin clusters; when associated with K-141; K-142 and R-145.
up seq anno comments: Loss ability to induce the formation of actin clusters; when associated with K-141; R-145 and K-146.
up seq anno comments: Loss ability to induce the formation of actin clusters; when associated with K-142; R-145 and K-146.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: SH3
up seq anno feature ids: PRO_0000247854
up seq anno feature ids: VAR_033515

9606:CDK2AP1
gene id: 9606:CDK2AP1
uniprot id: O14519
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: Secondary Structure
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: 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: Interchain
up seq anno comments: Phosphoserine; by IKKE
up seq anno feature ids: PRO_0000089452
up seq anno feature ids: VSP_046436

9606:OR2M5
gene id: 9606:OR2M5
uniprot id: A3KFT3
up 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 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:EPB41L4A
gene id: 9606:EPB41L4A
uniprot id: Q8N8X1
uniprot id: Q8NEH8
uniprot id: Q9HCS5
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Band 4.1-like protein 4A
up seq anno comments: Basic and acidic residues
up seq anno comments: FERM
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000219401
up seq anno feature ids: VAR_055537

9606:ELK3
gene id: 9606:ELK3
uniprot id: A0A024RBE2
uniprot id: P41970
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 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: Motif
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: CTBP-binding motif
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:RFPL4A
gene id: 9606:RFPL4A
uniprot id: A6NLU0
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: Domain Extent
up seq anno labels: Helix
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: B30.2/SPRY
up seq anno comments: RING-type; degenerate
up seq anno comments: Ret finger protein-like 4A
up seq anno feature ids: PRO_0000300811

9606:GNB5
gene id: 9606:GNB5
uniprot id: A0A024R5R9
uniprot id: A0A024R5V3
uniprot id: O14775
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 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: Guanine nucleotide-binding protein subunit beta-5
up seq anno comments: In LADCI; severe, but incomplete loss of activation of RGS9 GTPase activator activity, affecting the deactivation of D(2) dopamine receptor-mediated signaling; decreased stability; decreased RGS9 stabilization.
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
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_0000127705
up seq anno feature ids: VAR_049270
up seq anno feature ids: VAR_077994
up seq anno feature ids: VSP_008765
up seq anno feature ids: VSP_039101

9606:PRSS21
gene id: 9606:PRSS21
uniprot id: Q9Y6M0
up 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: 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: Glycosylation Site
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 comments: Charge relay system
up seq anno comments: GPI-anchor amidated serine
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 S1
up seq anno comments: Removed in mature form
up seq anno comments: Testisin
up seq anno feature ids: PRO_0000027849
up seq anno feature ids: PRO_0000027850
up seq anno feature ids: PRO_0000027851
up seq anno feature ids: VAR_051840
up seq anno feature ids: VSP_005389
up seq anno feature ids: VSP_005390

9606:RAD54L2
gene id: 9606:RAD54L2
uniprot id: B3KV54
uniprot id: Q9Y4B4
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: 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: 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: DEAH box
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Helicase ARIP4
up seq anno comments: Helicase ATP-binding
up seq anno comments: Helicase C-terminal
up seq anno comments: LXXLL motif 1
up seq anno comments: LXXLL motif 2
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000315781
up seq anno feature ids: VAR_038302

9606:H4C15
gene id: 9606:H4C15
uniprot id: B2R4R0
uniprot id: P62805
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: Secondary Structure
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: 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: 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 TEVANED1.
up seq anno comments: In TEVANED1; 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 TEVANED2 and TEVANED3; unknown pathological significance; does not affect early development when expressed in zebrafish embryos.
up seq anno comments: In TEVANED2; results in severe early developmental defects when expressed in zebrafish embryos.
up seq anno comments: In TEVANED3.
up seq anno comments: In TEVANED3; results in early developmental defects when expressed in zebrafish embryos.
up seq anno comments: In TEVANED4; results in early developmental defects when expressed in zebrafish embryos.
up seq anno comments: In TEVANED4; 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: TAF
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
up seq anno feature ids: VAR_086993
up seq anno feature ids: VAR_086994
up seq anno feature ids: VAR_086995
up seq anno feature ids: VAR_086996
up seq anno feature ids: VAR_086997
up seq anno feature ids: VAR_086998
up seq anno feature ids: VAR_086999
up seq anno feature ids: VAR_087000
up seq anno feature ids: VAR_087001
up seq anno feature ids: VAR_087002
up seq anno feature ids: VAR_087003
up seq anno feature ids: VAR_087004
up seq anno feature ids: VAR_087005

9606:SIPA1L1
gene id: 9606:SIPA1L1
uniprot id: O43166
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Asymmetric dimethylarginine
up seq anno comments: Basic and acidic residues
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 3.
up seq anno comments: PDZ
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CDK5
up seq anno comments: Phosphoserine; by PLK2
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by PLK2
up seq anno comments: Polar residues
up seq anno comments: Rap-GAP
up seq anno comments: Signal-induced proliferation-associated 1-like protein 1
up seq anno feature ids: PRO_0000056746
up seq anno feature ids: VAR_035549
up seq anno feature ids: VAR_049152
up seq anno feature ids: VSP_010917
up seq anno feature ids: VSP_054774

9606:KLHDC10
gene id: 9606:KLHDC10
uniprot id: Q6PID8
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 labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
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: 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 10
up seq anno comments: Loss of interaction with CUL2. No effect on MAP3K5 activation.
up seq anno comments: Omega-N-methylarginine
up seq anno feature ids: PRO_0000319436
up seq anno feature ids: VAR_039005
up seq anno feature ids: VAR_039006
up seq anno feature ids: VAR_039007
up seq anno feature ids: VAR_039008
up seq anno feature ids: VAR_039009
up seq anno feature ids: VSP_031484

9606:CX3CL1
gene id: 9606:CX3CL1
uniprot id: A0N0N7
uniprot id: P78423
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: Secondary Structure
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: 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: Dominant-negative mutant, reduced binding to integrins ITGAV:ITGB3 and ITGA4:ITGB1, no effect on binding to CX3CR1, defective in ternary complex formation, integrin activation and fractalkine signaling and suppression of leukocyte recruitment in the peritonitis model in vivo; when associated with E-60.
up seq anno comments: Dominant-negative mutant, reduced binding to integrins ITGAV:ITGB3 and ITGA4:ITGB1, no effect on binding to CX3CR1, defective in ternary complex formation, integrin activation and fractalkine signaling and suppression of leukocyte recruitment in the peritonitis model in vivo; when associated with E-61.
up seq anno comments: Extracellular
up seq anno comments: Fractalkine
up seq anno comments: Helical
up seq anno comments: Little or no effect on binding to integrin ITGAV:ITGB3.
up seq anno comments: Little or no effect on binding to integrin ITGAV:ITGB3; when associated with A-78.
up seq anno comments: Little or no effect on binding to integrin ITGAV:ITGB3; when associated with A-83.
up seq anno comments: Loss of binding to CX3CR1 and ability to induce chemotaxis but no effect on binding to integrins.
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 comments: Processed fractalkine
up seq anno comments: Reduced binding to integrin ITGAV:ITGB3, but no effect on binding to CX3CR1; when associated with A-60.
up seq anno comments: Reduced binding to integrin ITGAV:ITGB3, but no effect on binding to CX3CR1; when associated with A-61.
up seq anno comments: SCY
up seq anno feature ids: PRO_0000005252
up seq anno feature ids: PRO_0000296224
up seq anno feature ids: PRO_5014296589
up seq anno feature ids: VAR_048714

9606:AIMP2
gene id: 9606:AIMP2
uniprot id: A0A024QZY1
uniprot id: A8MU58
uniprot id: Q13155
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 labels: Chain
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: AIMP2_LysRS_bd
up seq anno comments: Aminoacyl tRNA synthase complex-interacting multifunctional protein 2
up seq anno comments: GST C-terminal
up seq anno comments: GST_C
up seq anno comments: In HLD17.
up seq anno comments: In a lung cancer cell line; no effect on proapoptotic activity.
up seq anno comments: In a lung cancer cell line; reduced interaction with TP53, loss of TP53 activation and loss of proapoptotic activity.
up seq anno comments: In isoform 2.
up seq anno comments: Nearly abolishes interaction with EPRS1.
up seq anno comments: Reduced interaction with TP53, loss of TP53 activation and loss of proapoptotic activity.
up seq anno comments: Thioredoxin_16
up seq anno feature ids: PRO_0000221129
up seq anno feature ids: VAR_025521
up seq anno feature ids: VAR_050125
up seq anno feature ids: VAR_058392
up seq anno feature ids: VAR_058393
up seq anno feature ids: VAR_058394
up seq anno feature ids: VAR_081108
up seq anno feature ids: VSP_059914

9606:USP10
gene id: 9606:USP10
uniprot id: A0A7G6J4N4
uniprot id: Q14694
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: 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: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Abolishes de-ubiquitinating activity.
up seq anno comments: Abolishes phosphorylation by ATM; when associated with A-337.
up seq anno comments: Abolishes phosphorylation by ATM; when associated with A-42.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-acetylalanine
up seq anno comments: Nucleophile
up seq anno comments: Phospho-mimetic mutant that translocates to the nucleus in absence of genotoxic stress; when associated with D-337.
up seq anno comments: Phospho-mimetic mutant that translocates to the nucleus in absence of genotoxic stress; when associated with E-42.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by ATM
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by ATM
up seq anno comments: Polar residues
up seq anno comments: Proton acceptor
up seq anno comments: Removed
up seq anno comments: USP
up seq anno comments: Ubiquitin carboxyl-terminal hydrolase 10
up seq anno feature ids: PRO_0000080629
up seq anno feature ids: VAR_015859
up seq anno feature ids: VAR_015860
up seq anno feature ids: VAR_015861
up seq anno feature ids: VSP_038868
up seq anno feature ids: VSP_038869

9606:RPL30
gene id: 9606:RPL30
uniprot id: A0A024R9D3
uniprot id: P62888
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 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: Strand
up seq anno comments: 60S ribosomal protein L30
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: Phosphoserine
up seq anno comments: Ribosomal_L7Ae
up seq anno feature ids: PRO_0000146120

9606:ACVR1
gene id: 9606:ACVR1
uniprot id: D3DPA4
uniprot id: Q04771
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: Secondary Structure
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: 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:OR6X1
gene id: 9606:OR6X1
uniprot id: A0A126GVM0
uniprot id: Q8NH79
up 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 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_RECEP_F1_2
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 6X1
up seq anno feature ids: PRO_0000150640
up seq anno feature ids: VAR_024110

9606:CDIPT
gene id: 9606:CDIPT
uniprot id: A8K3L7
uniprot id: O14735
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: Site
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 labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: CDP-diacylglycerol--inositol 3-phosphatidyltransferase
up seq anno comments: Cytoplasmic
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: Proton acceptor
up seq anno feature ids: PRO_0000056802
up seq anno feature ids: VAR_048734
up seq anno feature ids: VSP_013618
up seq anno feature ids: VSP_013619
up seq anno feature ids: VSP_013620
up seq anno feature ids: VSP_054767

9606:KCNN4
gene id: 9606:KCNN4
uniprot id: O15554
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: Secondary Structure
up seq anno labels: Chain
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: Strand
up seq anno labels: Transmembrane
up seq anno labels: Turn
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 S4
up seq anno comments: Helical; Name=Segment S5
up seq anno comments: Helical; Name=Segment S6
up seq anno comments: In DHS2.
up seq anno comments: In DHS2; no effect on plasma membrane localization; increases calcium-activated potassium channel activity.
up seq anno comments: Intermediate conductance calcium-activated potassium channel protein 4
up seq anno comments: Loss of sensitivity to triarylmethanes.
up seq anno comments: Phosphohistidine
up seq anno comments: Pore-forming; Name=Segment H5
up seq anno feature ids: PRO_0000155017
up seq anno feature ids: VAR_074485
up seq anno feature ids: VAR_074486
up seq anno feature ids: VAR_074487

9606:SLC30A6
gene id: 9606:SLC30A6
uniprot id: B3KU87
uniprot id: B5MCR8
uniprot id: Q6NXT4
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 labels: Chain
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: 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: No effect on heterodimer formation with SLC30A5 and no effect on zinc transport; when associated with A-205.
up seq anno comments: No effect on heterodimer formation with SLC30A5 and no effect on zinc transport; when associated with A-70.
up seq anno comments: No effect on heterodimer formation with SLC30A5 and no effect on zinc transport; when associated with H-201.
up seq anno comments: No effect on heterodimer formation with SLC30A5 and no effect on zinc transport; when associated with H-66.
up seq anno comments: Zinc transporter 6
up seq anno feature ids: PRO_0000312573
up seq anno feature ids: VSP_029861
up seq anno feature ids: VSP_029862
up seq anno feature ids: VSP_045198

9606:BET1L
gene id: 9606:BET1L
uniprot id: A0A0C4DH16
uniprot id: Q9NYM9
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: 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:ZNF300
gene id: 9606:ZNF300
uniprot id: Q96RE9
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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 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: 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:POLR3F
gene id: 9606:POLR3F
uniprot id: Q9H1D9
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: 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno comments: DNA-directed RNA polymerase III subunit RPC6
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In IMD101; unknown pathological significance.
up seq anno comments: N-acetylalanine
up seq anno comments: Removed
up seq anno comments: Strongly impaired dsDNA-binding. No effect on interaction with POLR3C.
up seq anno feature ids: PRO_0000073972
up seq anno feature ids: VAR_087291

9606:MALT1
gene id: 9606:MALT1
uniprot id: A8K5S1
uniprot id: Q9UDY8
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: Secondary Structure
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: 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: 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 TRAF6.
up seq anno comments: CASPASE_P20
up seq anno comments: Death
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 IMD12.
up seq anno comments: In isoform 2.
up seq anno comments: Mucosa-associated lymphoid tissue lymphoma translocation protein 1
up seq anno comments: N-acetylserine
up seq anno comments: Nuclear export signal
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno comments: Slight decrease in NF-kappa-B activation.
up seq anno feature ids: PRO_0000072821
up seq anno feature ids: VAR_048620
up seq anno feature ids: VAR_070857
up seq anno feature ids: VSP_000844

9606:RAB8B
gene id: 9606:RAB8B
uniprot id: Q92930
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: Site
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 comments: Cysteine methyl ester
up seq anno comments: Effector region
up seq anno comments: Loss of phosphorylation. No effect on GDI1 and GDI2 binding. Reduced binding to CHM and CHML.
up seq anno comments: Phosphomimetic mutant. Loss of binding to GDI1, GDI2, CHM, and CHML.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine; by LRRK2
up seq anno comments: Ras-related protein Rab-8B
up seq anno comments: Removed in mature form
up seq anno comments: S-geranylgeranyl cysteine
up seq anno feature ids: PRO_0000121134
up seq anno feature ids: PRO_0000370800

9606:ZNF641
gene id: 9606:ZNF641
uniprot id: Q96N77
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 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: 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: 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: 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:SPANXN5
gene id: 9606:SPANXN5
uniprot id: Q5MJ07
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno comments: Sperm protein associated with the nucleus on the X chromosome N5
up seq anno feature ids: PRO_0000285542

9606:ABCC6
gene id: 9606:ABCC6
uniprot id: O95255
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: Secondary Structure
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: 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: 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-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 6
up seq anno comments: Associated with lower plasma triglycerides and higher plasma HDL cholesterol.
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Found in patient with putative diagnosis of PEX; uncertain pathological significance.
up seq anno comments: Found in patient with putative diagnosis of PEX; uncertain pathological significance; loss-of-function mutation; localization comparable to wild-type.
up seq anno comments: Found in patient with putative diagnosis of PEX; uncertain pathological significance; mutant protein is retained in the cytoplasm.
up seq anno comments: Found in patient with putative diagnosis of PXE; uncertain pathological significance.
up seq anno comments: Found in patient with putative diagnosis of PXE; uncertain pathological significance; localization comparable to wild-type.
up seq anno comments: Found in patient with putative diagnosis of PXE; uncertain pathological significance; loss-of-function mutation; localization comparable to wild-type.
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=15
up seq anno comments: Helical; Name=16
up seq anno comments: Helical; Name=17
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 GACI2 and PXE; autosomal recessive.
up seq anno comments: In GACI2.
up seq anno comments: In PXE.
up seq anno comments: In PXE; affects protein expression and trafficking; affects protein expression and trafficking; expression is reduced to less than 10%, when compared with the WT protein.
up seq anno comments: In PXE; affects protein expression and trafficking; expression is reduced to less than 10%, when compared with the WT protein.
up seq anno comments: In PXE; autosomal dominant and autosomal recessive.
up seq anno comments: In PXE; autosomal dominant and autosomal recessive; abolishes LTC4 and NEM-GS transport.
up seq anno comments: In PXE; autosomal dominant and autosomal recessive; affects protein expression and trafficking; expression is reduced to less than 10%, when compared with the WT protein.
up seq anno comments: In PXE; autosomal dominant.
up seq anno comments: In PXE; autosomal dominant; abolishes LTC4 and NEM-GS transport.
up seq anno comments: In PXE; autosomal dominant; abolishes LTC4 and NEM-GS transport; does not affect plasma membrane localization; does not increase extracellular pyrophosphate levels.
up seq anno comments: In PXE; autosomal dominant; affects protein expression and trafficking; expression is reduced to less than 10%, when compared with the WT protein.
up seq anno comments: In PXE; autosomal recessive.
up seq anno comments: In PXE; autosomal recessive; affects protein expression and trafficking.
up seq anno comments: In PXE; autosomal recessive; affects protein expression and trafficking; expression is reduced to less than 10%, when compared with the WT protein.
up seq anno comments: In PXE; autosomal recessive; protein level is 15-20% that of the WT proteins; maturation of glycan chains is not affected indicating normal trafficking from the endoplasmic reticulum to the cell membrane.
up seq anno comments: In PXE; does not change protein biosynthesis and folding.
up seq anno comments: In PXE; loss-of-function variant; localization comparable to wild-type.
up seq anno comments: In PXE; protein level is 15-20% that of the WT proteins; maturation of glycan chains is not affected indicating normal trafficking from the endoplasmic reticulum to the cell membrane.
up seq anno comments: In PXE; pseudodominant.
up seq anno comments: In PXE; putative autosomal dominant.
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

9606:GPR108
gene id: 9606:GPR108
uniprot id: G5E9L6
uniprot id: Q9NPR9
up 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 labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
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: Helical; Name=7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Protein GPR108
up seq anno feature ids: PRO_0000045083
up seq anno feature ids: VAR_056112
up seq anno feature ids: VAR_060483

9606:TNIP3
gene id: 9606:TNIP3
uniprot id: Q96KP6
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 labels: Chain
up seq anno labels: Coiled-Coil
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: Abolishes ubiquitin binding; loss of inhibitory activity on NF-kappa-B activation.
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 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:CHST15
gene id: 9606:CHST15
uniprot id: B4DH74
uniprot id: Q7LFX5
up 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: Site
up seq anno labels: Binding Site
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: Carbohydrate sulfotransferase 15
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 isoform 2.
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000225623
up seq anno feature ids: VSP_017387

9606:NRDC
gene id: 9606:NRDC
uniprot id: G3V1R5
uniprot id: O43847
uniprot id: Q6UUU9
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: 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: Sequence Conflict
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: In isoform 2.
up seq anno comments: Nardilysin
up seq anno comments: Peptidase_M16
up seq anno comments: Peptidase_M16_C
up seq anno comments: Peptidase_M16_M
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000026755
up seq anno feature ids: VAR_057058
up seq anno feature ids: VAR_080827
up seq anno feature ids: VSP_007114

9606:C9orf92
gene id: 9606:C9orf92
uniprot id: A6NGG3
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Putative uncharacterized protein encoded by LINC03041
up seq anno feature ids: PRO_0000316783
up seq anno feature ids: VSP_030775

9606:NDUFB8
gene id: 9606:NDUFB8
uniprot id: O95169
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 labels: Chain
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 labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: In MC1DN32.
up seq anno comments: In MC1DN32; due to a nucleotide substitution that results in exon 4 skipping or in missense variant W-144; patient cells contain both type of transcripts; transcript lacking exon 4 is the most abundant.
up seq anno comments: In MC1DN32; due to a nucleotide substitution that results in exon 4 skipping or missense variant W-144; patient cells contain both type of transcripts; transcript with the missense variant is the less abundant.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Mitochondrion
up seq anno comments: NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial
up seq anno feature ids: PRO_0000020046
up seq anno feature ids: VAR_081466
up seq anno feature ids: VAR_081467
up seq anno feature ids: VAR_081468
up seq anno feature ids: VAR_081469
up seq anno feature ids: VSP_054842
up seq anno feature ids: VSP_054843
up seq anno feature ids: VSP_054844

9606:AMBN
gene id: 9606:AMBN
uniprot id: Q546D7
uniprot id: Q9NP70
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 labels: Chain
up seq anno labels: Glycosylation Site
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: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: 1
up seq anno comments: 2
up seq anno comments: Ameloblastin
up seq anno comments: Hydroxyproline
up seq anno comments: In ameloblastoma.
up seq anno comments: In an ameloblastoma sample.
up seq anno comments: In isoform 2.
up seq anno comments: O-linked (GalNAc...) serine
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000001192
up seq anno feature ids: PRO_5014309647
up seq anno feature ids: VAR_014066
up seq anno feature ids: VAR_014067
up seq anno feature ids: VAR_014068
up seq anno feature ids: VAR_014069
up seq anno feature ids: VAR_048225
up seq anno feature ids: VSP_000224

9606:GUCD1
gene id: 9606:GUCD1
uniprot id: A0A087WVD9
uniprot id: Q7Z629
uniprot id: Q96NT3
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: Protein GUCD1
up seq anno feature ids: PRO_0000079574
up seq anno feature ids: VSP_044730
up seq anno feature ids: VSP_055753

9606:TCF12
gene id: 9606:TCF12
uniprot id: A0A024R5T1
uniprot id: A0A024R5Z0
uniprot id: F5GY10
uniprot id: Q99081
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: Secondary Structure
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: 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: Decreases interaction with RUNX1T1.
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: 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:IQCA1L
gene id: 9606:IQCA1L
uniprot id: A6NCM1
uniprot id: E0ZS59
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: Site
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 comments: IQ
up seq anno comments: IQ and AAA domain-containing protein 1-like
up seq anno feature ids: PRO_0000341249

9606:GDF2
gene id: 9606:GDF2
uniprot id: B2RC63
uniprot id: Q9UK05
up 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 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: 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: Basic and acidic residues
up seq anno comments: Growth/differentiation factor 2
up seq anno comments: In HHT5; impaired protein processing and function.
up seq anno comments: Interchain
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: TGF_BETA_2
up seq anno feature ids: PRO_0000033902
up seq anno feature ids: PRO_0000033903
up seq anno feature ids: PRO_5002781578
up seq anno feature ids: VAR_070689
up seq anno feature ids: VAR_070690
up seq anno feature ids: VAR_070691

9606:RAB26
gene id: 9606:RAB26
uniprot id: Q9ULW5
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: Secondary Structure
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: Helix
up seq anno labels: Lipid Binding
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: Constitutively activated.
up seq anno comments: Effector region
up seq anno comments: In isoform 2.
up seq anno comments: Inactive, constitutively GDP-bound. Abolishes location at Golgi membranes. Impairs transport of ADRA2A and ADRA2B from the Golgi to the cell membrane.
up seq anno comments: Inactive, due to loss of GNP binding. Abolishes location at Golgi membranes. Impairs transport of ADRA2A and ADRA2B from the Golgi to the cell membrane.
up seq anno comments: Polar residues
up seq anno comments: Ras-related protein Rab-26
up seq anno comments: S-geranylgeranyl cysteine
up seq anno feature ids: PRO_0000121218
up seq anno feature ids: VSP_056879

9606:SLC7A3
gene id: 9606:SLC7A3
uniprot id: Q8WY07
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 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:HPGDS
gene id: 9606:HPGDS
uniprot id: A0A384P5J0
uniprot id: O60760
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: Secondary Structure
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: 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:DEFB4B
gene id: 9606:DEFB4B
uniprot id: O15263
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: Secondary Structure
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: 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 feature ids: PRO_0000006968

9606:MRPS14
gene id: 9606:MRPS14
uniprot id: O60783
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno comments: 28S ribosomal protein S14, mitochondrial
up seq anno comments: In COXPD38.
up seq anno feature ids: PRO_0000131013
up seq anno feature ids: VAR_082116

9606:APH1B
gene id: 9606:APH1B
uniprot id: Q8WW43
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 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: Gamma-secretase subunit APH-1B
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 feature ids: PRO_0000221052
up seq anno feature ids: VAR_048315
up seq anno feature ids: VSP_042945

9606:MLH3
gene id: 9606:MLH3
uniprot id: Q2M1Z1
uniprot id: Q9UHC1
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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: DNA mismatch repair protein Mlh3
up seq anno comments: DNA_mis_repair
up seq anno comments: In HNPCC7.
up seq anno comments: In isoform 2.
up seq anno comments: MutL_C
up seq anno feature ids: PRO_0000178003
up seq anno feature ids: VAR_010790
up seq anno feature ids: VAR_012946
up seq anno feature ids: VAR_012947
up seq anno feature ids: VAR_012948
up seq anno feature ids: VAR_012949
up seq anno feature ids: VAR_012950
up seq anno feature ids: VAR_012951
up seq anno feature ids: VAR_012952
up seq anno feature ids: VAR_012953
up seq anno feature ids: VAR_012954
up seq anno feature ids: VAR_023338
up seq anno feature ids: VAR_023339
up seq anno feature ids: VAR_023340
up seq anno feature ids: VAR_023341
up seq anno feature ids: VAR_023342
up seq anno feature ids: VAR_023343
up seq anno feature ids: VAR_023344
up seq anno feature ids: VAR_023345
up seq anno feature ids: VAR_023346
up seq anno feature ids: VAR_023347
up seq anno feature ids: VAR_023348
up seq anno feature ids: VAR_023349
up seq anno feature ids: VAR_023350
up seq anno feature ids: VAR_023351
up seq anno feature ids: VAR_023352
up seq anno feature ids: VAR_023353
up seq anno feature ids: VAR_023354
up seq anno feature ids: VAR_023355
up seq anno feature ids: VAR_023356
up seq anno feature ids: VAR_036781
up seq anno feature ids: VSP_003290

9606:HECW2
gene id: 9606:HECW2
uniprot id: A0A2R8Y6F3
uniprot id: Q9P2P5
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: Secondary Structure
up seq anno parent labels: Site
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: 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: 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: 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:FAM120C
gene id: 9606:FAM120C
uniprot id: F8W881
uniprot id: Q9NX05
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Constitutive coactivator of PPAR-gamma-like protein 2
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: Omega-N-methylarginine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000221628
up seq anno feature ids: VAR_047538
up seq anno feature ids: VAR_062001
up seq anno feature ids: VSP_010519
up seq anno feature ids: VSP_010520

9606:RPS25
gene id: 9606:RPS25
uniprot id: P62851
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Strand
up seq anno comments: 40S ribosomal protein S25
up seq anno comments: Basic and acidic residues
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-succinyllysine; alternate
up seq anno feature ids: PRO_0000192869

9606:NR1H3
gene id: 9606:NR1H3
uniprot id: B4DXU5
uniprot id: B5MBY7
uniprot id: F1D8N1
uniprot id: Q13133
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 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: 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 NCOA2 without affecting interaction with GPS2; when associated with 268-A--A-273.
up seq anno comments: Abolishes interaction with NCOA2 without affecting interaction with GPS2; when associated with 438-A-A-439.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: NR C4-type
up seq anno comments: NR LBD
up seq anno comments: Nuclear receptor
up seq anno comments: Oxysterols receptor LXR-alpha
up seq anno feature ids: PRO_0000053535
up seq anno feature ids: VAR_050580
up seq anno feature ids: VSP_003664
up seq anno feature ids: VSP_044960

9606:PRRC2B
gene id: 9606:PRRC2B
uniprot id: Q5JSZ5
uniprot id: Q9BU62
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: BAT2_N
up seq anno comments: Basic and acidic residues
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, isoform 3 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: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Protein PRRC2B
up seq anno feature ids: PRO_0000274481
up seq anno feature ids: VAR_030289
up seq anno feature ids: VAR_030290
up seq anno feature ids: VAR_057735
up seq anno feature ids: VSP_022760
up seq anno feature ids: VSP_022761
up seq anno feature ids: VSP_022762
up seq anno feature ids: VSP_039905

9606:BLOC1S1
gene id: 9606:BLOC1S1
uniprot id: P78537
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Splice Variant
up seq anno comments: Biogenesis of lysosome-related organelles complex 1 subunit 1
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000156331
up seq anno feature ids: VSP_040954

9606:SREK1IP1
gene id: 9606:SREK1IP1
uniprot id: Q8N9Q2
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: Modified Residue
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: CCHC-type
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Protein SREK1IP1
up seq anno feature ids: PRO_0000311922

9606:HSD11B2
gene id: 9606:HSD11B2
uniprot id: P80365
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: Site
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 comments: 11-beta-hydroxysteroid dehydrogenase type 2
up seq anno comments: Abolishes cofactor specificity.
up seq anno comments: Almost complete loss of enzyme activity.
up seq anno comments: Complete loss of enzyme activity.
up seq anno comments: In AME.
up seq anno comments: In AME; abolishes enzyme activity.
up seq anno comments: In AME; abolishes enzyme activity; decreased half-life from 21 to 3 hours compared to wild-type, probably due to degradation via the proteasomal pathway.
up seq anno comments: In AME; associated with N-244.
up seq anno comments: In AME; associated with R-250.
up seq anno comments: In AME; decreased half-life from 21 to 4 hours compared to wild-type, probably due to degradation via the proteasomal pathway.
up seq anno comments: In AME; decreases enzyme activity by 33%.
up seq anno comments: In AME; decreases enzyme activity.
up seq anno comments: In AME; reduces enzyme activity by 90%.
up seq anno comments: In AME; reduces enzyme activity by at least 95%.
up seq anno comments: In AME; reduces enzyme activity to about 6% of wild type.
up seq anno comments: In AME; reduces enzyme activity.
up seq anno comments: In hypertension; decreases affinity for cortisol.
up seq anno comments: No effect on enzyme activity.
up seq anno comments: Proton acceptor
up seq anno comments: Reduced enzyme activity.
up seq anno feature ids: PRO_0000054627
up seq anno feature ids: VAR_006958
up seq anno feature ids: VAR_006959
up seq anno feature ids: VAR_015634
up seq anno feature ids: VAR_015635
up seq anno feature ids: VAR_015636
up seq anno feature ids: VAR_015637
up seq anno feature ids: VAR_015638
up seq anno feature ids: VAR_015639
up seq anno feature ids: VAR_015640
up seq anno feature ids: VAR_015641
up seq anno feature ids: VAR_015642
up seq anno feature ids: VAR_015643
up seq anno feature ids: VAR_015644
up seq anno feature ids: VAR_015645
up seq anno feature ids: VAR_015646
up seq anno feature ids: VAR_015647
up seq anno feature ids: VAR_052317
up seq anno feature ids: VAR_066514
up seq anno feature ids: VAR_066515
up seq anno feature ids: VAR_085553

9606:C5orf63
gene id: 9606:C5orf63
uniprot id: A6NC05
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Glutaredoxin-like protein C5orf63
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno comments: Redox-active
up seq anno feature ids: PRO_0000328756
up seq anno feature ids: VSP_044904

9606:AHNAK2
gene id: 9606:AHNAK2
uniprot id: Q8IVF2
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: Secondary Structure
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: 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: 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: N6-acetyllysine
up seq anno comments: PDZ
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Protein AHNAK2
up seq anno feature ids: PRO_0000319962
up seq anno feature ids: VAR_039069
up seq anno feature ids: VAR_039070
up seq anno feature ids: VAR_039071
up seq anno feature ids: VAR_039072
up seq anno feature ids: VAR_039073
up seq anno feature ids: VAR_039074
up seq anno feature ids: VAR_039075
up seq anno feature ids: VAR_039076
up seq anno feature ids: VAR_050635
up seq anno feature ids: VAR_050636
up seq anno feature ids: VAR_050637
up seq anno feature ids: VAR_050638
up seq anno feature ids: VAR_050639
up seq anno feature ids: VAR_050640
up seq anno feature ids: VAR_050641
up seq anno feature ids: VAR_050642
up seq anno feature ids: VAR_050643
up seq anno feature ids: VAR_050644
up seq anno feature ids: VAR_050645
up seq anno feature ids: VAR_050646
up seq anno feature ids: VAR_050647
up seq anno feature ids: VAR_050648
up seq anno feature ids: VAR_050649
up seq anno feature ids: VAR_059560
up seq anno feature ids: VAR_059561
up seq anno feature ids: VAR_059562
up seq anno feature ids: VAR_059563
up seq anno feature ids: VAR_059564
up seq anno feature ids: VAR_059565
up seq anno feature ids: VAR_059566
up seq anno feature ids: VAR_059567
up seq anno feature ids: VAR_059568
up seq anno feature ids: VAR_059569
up seq anno feature ids: VAR_059570
up seq anno feature ids: VAR_059571
up seq anno feature ids: VAR_059572
up seq anno feature ids: VAR_059573
up seq anno feature ids: VAR_059574
up seq anno feature ids: VAR_061548
up seq anno feature ids: VAR_061549
up seq anno feature ids: VAR_061550
up seq anno feature ids: VSP_031550
up seq anno feature ids: VSP_031551

9606:RIOK2
gene id: 9606:RIOK2
uniprot id: Q9BVS4
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: Secondary Structure
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: 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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes autophosphorylation; impairs release of pre-40S trans-acting factors and rRNA processing; when associated with A-123.
up seq anno comments: Abolishes autophosphorylation; impairs release of pre-40S trans-acting factors and rRNA processing; when associated with A-246.
up seq anno comments: Does not affect autophosphorylation activity; when associated with A-335 and A-380. Does not affect the timing of metaphase-anaphase transition; when associated with A-335 and A-380.
up seq anno comments: Does not affect autophosphorylation activity; when associated with A-335 and A-548. Does not affect the timing of metaphase-anaphase transition; when associated with A-335 and A-548.
up seq anno comments: Does not affect autophosphorylation activity; when associated with A-380 and A-548. Does not affect the timing of metaphase-anaphase transition; when associated with A-380 and A-548.
up seq anno comments: In a renal clear cell carcinoma sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Increases time spent in metaphase; when associated with D-335 and D-380.
up seq anno comments: Increases time spent in metaphase; when associated with D-335 and D-548.
up seq anno comments: Increases time spent in metaphase; when associated with D-380 and D-548.
up seq anno comments: Nuclear export signal
up seq anno comments: Nuclear relocalization; when associated with A-400.
up seq anno comments: Nuclear relocalization; when associated with A-403.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Serine/threonine-protein kinase RIO2
up seq anno feature ids: PRO_0000213527
up seq anno feature ids: VAR_031597
up seq anno feature ids: VAR_031598
up seq anno feature ids: VAR_031599
up seq anno feature ids: VAR_042347
up seq anno feature ids: VAR_042348
up seq anno feature ids: VAR_042349
up seq anno feature ids: VAR_042350
up seq anno feature ids: VAR_042351
up seq anno feature ids: VAR_042352
up seq anno feature ids: VAR_042353
up seq anno feature ids: VAR_042354
up seq anno feature ids: VSP_046388

9606:UGT3A2
gene id: 9606:UGT3A2
uniprot id: Q3SY77
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 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: 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: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: UDP-glucuronosyltransferase 3A2
up seq anno feature ids: PRO_0000299153
up seq anno feature ids: VAR_036036
up seq anno feature ids: VAR_057329
up seq anno feature ids: VSP_046099

9606:ASB16
gene id: 9606:ASB16
uniprot id: Q96NS5
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 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 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 16
up seq anno comments: Found in a clear cell renal carcinoma case; somatic mutation.
up seq anno comments: SOCS box
up seq anno feature ids: PRO_0000066956
up seq anno feature ids: VAR_059127
up seq anno feature ids: VAR_064697

9606:PCTP
gene id: 9606:PCTP
uniprot id: I3L2M9
uniprot id: I3L3H0
uniprot id: Q549N3
uniprot id: Q9UKL6
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: Secondary Structure
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: 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: In isoform 2.
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphatidylcholine transfer protein
up seq anno comments: Phosphoserine
up seq anno comments: Reduces activity by 20%.
up seq anno comments: START
up seq anno feature ids: PRO_0000220658
up seq anno feature ids: VAR_052070
up seq anno feature ids: VSP_041363

9606:MRGBP
gene id: 9606:MRGBP
uniprot id: Q9NV56
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 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: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: MRG/MORF4L-binding protein
up seq anno comments: N-acetylglycine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000215876

9606:TGDS
gene id: 9606:TGDS
uniprot id: O95455
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Sequence Variant
up seq anno comments: In CATMANS.
up seq anno comments: Proton acceptor
up seq anno comments: Proton donor
up seq anno comments: dTDP-D-glucose 4,6-dehydratase
up seq anno feature ids: PRO_0000183250
up seq anno feature ids: VAR_049122
up seq anno feature ids: VAR_072682
up seq anno feature ids: VAR_072683
up seq anno feature ids: VAR_072684
up seq anno feature ids: VAR_072685
up seq anno feature ids: VAR_072686

9606:TMED10
gene id: 9606:TMED10
uniprot id: A0A024R6I3
uniprot id: P49755
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 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: 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: COPI vesicle coat-binding
up seq anno comments: COPII vesicle coat-binding
up seq anno comments: Cytoplasmic
up seq anno comments: Dimethylated arginine
up seq anno comments: Disrupts interaction with COPG1 and association with coatomer; when associated with 211-A-A-212.
up seq anno comments: Disrupts interaction with COPG1 and association with coatomer; when associated with 215-A-A-216.
up seq anno comments: GOLD
up seq anno comments: Helical
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No decrease in binding to COPG1. Disrupts interaction with SEC23A.
up seq anno comments: Significant reduction in binding to COPG1.
up seq anno comments: Transmembrane emp24 domain-containing protein 10
up seq anno feature ids: PRO_0000010399
up seq anno feature ids: PRO_5014214232
up seq anno feature ids: VAR_012051
up seq anno feature ids: VAR_049111

9606:NUDT6
gene id: 9606:NUDT6
uniprot id: B4DG76
uniprot id: P53370
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 labels: Chain
up seq anno labels: Domain Extent
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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: In isoform 2.
up seq anno comments: Nucleoside diphosphate-linked moiety X motif 6
up seq anno comments: Nudix box
up seq anno comments: Nudix hydrolase
up seq anno feature ids: PRO_0000057107
up seq anno feature ids: VAR_021909
up seq anno feature ids: VAR_050412
up seq anno feature ids: VSP_003729

9606:EFEMP1
gene id: 9606:EFEMP1
uniprot id: A0A0S2Z3V1
uniprot id: A0A0S2Z4F1
uniprot id: B2R6M6
uniprot id: Q12805
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 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 labels: Splice Variant
up seq anno comments: EGF-containing fibulin-like extracellular matrix protein 1
up seq anno comments: EGF-like
up seq anno comments: EGF-like 1; atypical
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: EGF-like 6; calcium-binding
up seq anno comments: In DHRD; misfolded, accumulates in cells due to inefficient secretion; induces the formation of deposits between Bruch's membrane and the retinal pigment epithelium where it accumulates.
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 feature ids: PRO_0000007570
up seq anno feature ids: PRO_5002781797
up seq anno feature ids: PRO_5006608236
up seq anno feature ids: PRO_5014035617
up seq anno feature ids: VAR_009512
up seq anno feature ids: VAR_009513
up seq anno feature ids: VSP_001392
up seq anno feature ids: VSP_001393
up seq anno feature ids: VSP_001394
up seq anno feature ids: VSP_054372
up seq anno feature ids: VSP_054373

9606:SOX18
gene id: 9606:SOX18
uniprot id: P35713
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 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: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno comments: 9aaTAD
up seq anno comments: Basic residues
up seq anno comments: Greatly reduced transactivating activity.
up seq anno comments: HMG box
up seq anno comments: In HLTS.
up seq anno comments: Phosphoserine
up seq anno comments: Pro residues
up seq anno comments: Sox C-terminal
up seq anno comments: Transcription factor SOX-18
up seq anno feature ids: PRO_0000048767
up seq anno feature ids: VAR_016210
up seq anno feature ids: VAR_016211

9606:H2BC1
gene id: 9606:H2BC1
uniprot id: Q96A08
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 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: Sequence Conflict
up seq anno labels: Strand
up seq anno comments: Basic residues
up seq anno comments: Dimethylated arginine
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 H2B type 1-A
up seq anno comments: N-acetylproline
up seq anno comments: N6,N6,N6-trimethyllysine; alternate
up seq anno comments: N6,N6-dimethyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-crotonyllysine; alternate
up seq anno comments: N6-lactoyllysine; alternate
up seq anno comments: N6-methylated lysine; alternate
up seq anno comments: N6-methyllysine
up seq anno comments: N6-succinyllysine; alternate
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 feature ids: PRO_0000071842

9606:ARFGEF3
gene id: 9606:ARFGEF3
uniprot id: Q5TH69
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 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: 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: Brefeldin A-inhibited guanine nucleotide-exchange protein 3
up seq anno comments: Helical
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: SEC7
up seq anno feature ids: PRO_0000286671
up seq anno feature ids: VAR_032154
up seq anno feature ids: VAR_032155
up seq anno feature ids: VAR_032156
up seq anno feature ids: VAR_051925

9606:IL13RA2
gene id: 9606:IL13RA2
uniprot id: Q14627
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: Secondary Structure
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:RUSF1
gene id: 9606:RUSF1
uniprot id: A0A024QZE6
uniprot id: Q96GQ5
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 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: Transmembrane
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: N-acetylalanine
up seq anno comments: Phosphothreonine
up seq anno comments: RUS family member 1
up seq anno comments: Removed
up seq anno feature ids: PRO_0000282930
up seq anno feature ids: VAR_031439
up seq anno feature ids: VAR_036485
up seq anno feature ids: VSP_024255
up seq anno feature ids: VSP_024256

9606:PRKACA
gene id: 9606:PRKACA
uniprot id: A0A024R7J0
uniprot id: A8K8B9
uniprot id: P17612
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: Secondary Structure
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: 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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: AGC-kinase C-terminal
up seq anno comments: Deamidated asparagine
up seq anno comments: Enhanced basal kinase activity; when associated with Q-96, L-121, A-124, K-182 and A-184.
up seq anno comments: Enhanced basal kinase activity; when associated with R-48, L-121, A-124, K-182 and A-184.
up seq anno comments: Enhanced basal kinase activity; when associated with R-48, Q-96, A-124, K-182 and A-184.
up seq anno comments: Enhanced basal kinase activity; when associated with R-48, Q-96, L-121, A-124 and A-184.
up seq anno comments: Enhanced basal kinase activity; when associated with R-48, Q-96, L-121, A-124 and K-182.
up seq anno comments: Enhanced basal kinase activity; when associated with R-48, Q-96, L-121, K-182 and A-184.
up seq anno comments: In CAFD1; decreased interaction with regulatory subunit PRKAR2B.
up seq anno comments: In PPNAD4; somatic mutation; the mutation results in cAMP-independent basal protein kinase activity and constitutive activation of protein kinase A.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of allosteric regulation.
up seq anno comments: N-myristoyl glycine
up seq anno comments: No phosphorylation.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by autocatalysis
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by PDPK1
up seq anno comments: Phosphotyrosine
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Removed
up seq anno comments: cAMP-dependent protein kinase catalytic subunit alpha
up seq anno feature ids: PRO_0000086052
up seq anno feature ids: VAR_040591
up seq anno feature ids: VAR_040592
up seq anno feature ids: VAR_040593
up seq anno feature ids: VAR_071707
up seq anno feature ids: VAR_085198
up seq anno feature ids: VSP_004759

9606:DAZ2
gene id: 9606:DAZ2
uniprot id: B4DZ07
uniprot id: Q13117
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 labels: Chain
up seq anno labels: Domain Extent
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: 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:PTH1R
gene id: 9606:PTH1R
uniprot id: A1LPH3
uniprot id: Q03431
uniprot id: Q0VGD7
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: Secondary Structure
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: 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 hormone binding and homodimerization.
up seq anno comments: Abolishes hormone binding. No effect on homodimerization.
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G_PROTEIN_RECEP_F2_3
up seq anno comments: G_PROTEIN_RECEP_F2_4
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: Important for interaction with G proteins
up seq anno comments: In BOCD.
up seq anno comments: In MCDJ.
up seq anno comments: In MCDJ; constitutively activated.
up seq anno comments: In MCDJ; constitutively activated; constitutively increases adenylate cyclase-activating G-protein coupled receptor signaling pathway; decreases the degree of N-glycosylation; does not affect homodimerization.
up seq anno comments: In MCDJ; leads to agonist-independent cAMP formation which is less pronounced than that observed with the Pro-410 mutant.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Parathyroid hormone/parathyroid hormone-related peptide receptor
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000012845
up seq anno feature ids: PRO_5004178874
up seq anno feature ids: PRO_5033692053
up seq anno feature ids: VAR_003582
up seq anno feature ids: VAR_003583
up seq anno feature ids: VAR_016062
up seq anno feature ids: VAR_016063
up seq anno feature ids: VAR_016064
up seq anno feature ids: VAR_038811

9606:GRM6
gene id: 9606:GRM6
uniprot id: O15303
up 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: 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: 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 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:IL21R
gene id: 9606:IL21R
uniprot id: Q9HBE5
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: Secondary Structure
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: Box 1 motif
up seq anno comments: C-linked (Man) tryptophan
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 IMD56; loss of function mutation.
up seq anno comments: In IMD56; loss of function mutation; the mutation results in defective trafficking of the protein, with misfolding, impaired processing and abnormal subcellular distribution rather than proper expression at the plasma membrane.
up seq anno comments: Interleukin-21 receptor
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: WSXWS motif
up seq anno feature ids: PRO_0000010881
up seq anno feature ids: VAR_014360
up seq anno feature ids: VAR_014361
up seq anno feature ids: VAR_014362
up seq anno feature ids: VAR_069898
up seq anno feature ids: VAR_069899

9606:ZFAND2B
gene id: 9606:ZFAND2B
uniprot id: A0A087X0D9
uniprot id: Q8WV99
up 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: 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: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Propeptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Zinc Finger
up seq anno comments: AN1-type
up seq anno comments: AN1-type 1
up seq anno comments: AN1-type 2
up seq anno comments: AN1-type zinc finger protein 2B
up seq anno comments: CAAX motif
up seq anno comments: Cysteine methyl ester
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Removed in mature form
up seq anno comments: S-geranylgeranyl cysteine
up seq anno comments: UIM 1
up seq anno comments: UIM 2
up seq anno feature ids: PRO_0000232876
up seq anno feature ids: PRO_0000444335
up seq anno feature ids: VSP_018001

9606:GUCY1A1
gene id: 9606:GUCY1A1
uniprot id: B3KU69
uniprot id: Q02108
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: Secondary Structure
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: 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: Guanylate cyclase
up seq anno comments: Guanylate cyclase soluble subunit alpha-1
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000074110
up seq anno feature ids: VAR_049257
up seq anno feature ids: VSP_045477

9606:SEC24C
gene id: 9606:SEC24C
uniprot id: A0A024QZM6
uniprot id: P53992
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: Secondary Structure
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: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
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: In isoform 2.
up seq anno comments: Loss of packaging into COPII-coated vesicles of the IxM motif-containing cargos GOSR2 and STX5.
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Protein transport protein Sec24C
up seq anno comments: Sec23_BS
up seq anno comments: Sec23_helical
up seq anno comments: Sec23_trunk
up seq anno comments: zf-Sec23_Sec24
up seq anno feature ids: PRO_0000205156
up seq anno feature ids: VAR_057174
up seq anno feature ids: VAR_058690
up seq anno feature ids: VSP_056516

9606:AMER3
gene id: 9606:AMER3
uniprot id: Q8N944
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Sequence Variant
up seq anno comments: APC membrane recruitment protein 3
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000320594
up seq anno feature ids: VAR_039218

9606:OR11G2
gene id: 9606:OR11G2
uniprot id: A0A126GWS8
uniprot id: Q8NGC1
up 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 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_RECEP_F1_2
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 11G2
up seq anno feature ids: PRO_0000150723
up seq anno feature ids: VAR_047237
up seq anno feature ids: VAR_047238

9606:CLK4
gene id: 9606:CLK4
uniprot id: Q9HAZ1
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: Secondary Structure
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: Mutagenesis Site
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: Basic residues
up seq anno comments: Dual specificity protein kinase CLK4
up seq anno comments: Loss of function.
up seq anno comments: Phosphoserine
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000085873
up seq anno feature ids: VAR_040414
up seq anno feature ids: VAR_040415

9606:CATSPERE
gene id: 9606:CATSPERE
uniprot id: Q5SY80
up 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 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: Cation channel sperm-associated auxiliary subunit epsilon
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: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000251216
up seq anno feature ids: VAR_027661
up seq anno feature ids: VAR_035494
up seq anno feature ids: VAR_061566
up seq anno feature ids: VSP_020748
up seq anno feature ids: VSP_020749
up seq anno feature ids: VSP_044251

9606:C8orf33
gene id: 9606:C8orf33
uniprot id: Q9H7E9
up 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 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: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylalanine
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno comments: UPF0488 protein C8orf33
up seq anno feature ids: PRO_0000304982
up seq anno feature ids: VSP_028169

9606:NOL4L
gene id: 9606:NOL4L
uniprot id: A0A087X0N3
uniprot id: Q6P0R2
uniprot id: Q96MY1
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 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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
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:C22orf42
gene id: 9606:C22orf42
uniprot id: Q6IC83
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno comments: Uncharacterized protein C22orf42
up seq anno feature ids: PRO_0000344364
up seq anno feature ids: VAR_045606

9606:C10orf67
gene id: 9606:C10orf67
uniprot id: Q8IYJ2
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Splice Variant
up seq anno labels: Transit Peptide
up seq anno comments: In isoform 2.
up seq anno comments: Mitochondrion
up seq anno comments: Polar residues
up seq anno comments: Uncharacterized protein C10orf67, mitochondrial
up seq anno feature ids: PRO_0000089800
up seq anno feature ids: VSP_058394
up seq anno feature ids: VSP_058395

9606:LMNB1
gene id: 9606:LMNB1
uniprot id: B4DZT3
uniprot id: P20700
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: Secondary Structure
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: Disulfide Bond
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: Motif
up seq anno labels: Propeptide
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: Cysteine methyl ester
up seq anno comments: Found in a family with amyotrophic lateral sclerosis carrying a probable causative mutation in MATR3; unknown pathological significance.
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: IF rod
up seq anno comments: In ADLD; unknown pathological significance; no effect on localization to nuclear lamina.
up seq anno comments: In MCPH26; decreased localization to nuclear lamina; changed nuclear envelope organization; increased aggregation.
up seq anno comments: In MCPH26; decreased localization to nuclear lamina; increased aggregation; changed nuclear envelope organization.
up seq anno comments: In MCPH26; decreased protein abundance; changed localization to nuclear lamina; changed nuclear envelope organization.
up seq anno comments: In MCPH26; increased aggregation; changed nuclear envelope organization.
up seq anno comments: Interchain
up seq anno comments: LTD
up seq anno comments: Lamin-B1
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: No effect on localization to nuclear lamina.
up seq anno comments: Nuclear localization signal
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: Removed in mature form
up seq anno comments: S-farnesyl cysteine
up seq anno feature ids: PRO_0000063816
up seq anno feature ids: PRO_0000393945
up seq anno feature ids: VAR_031646
up seq anno feature ids: VAR_071077
up seq anno feature ids: VAR_085497
up seq anno feature ids: VAR_085498
up seq anno feature ids: VAR_085499
up seq anno feature ids: VAR_085500
up seq anno feature ids: VAR_085501
up seq anno feature ids: VAR_085502
up seq anno feature ids: VAR_085503

9606:CDC25A
gene id: 9606:CDC25A
uniprot id: A0A024R2R6
uniprot id: D8KXX0
uniprot id: K7N7S0
uniprot id: P30304
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: Secondary Structure
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: 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: 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: 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: Polar residues
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:DEPDC1
gene id: 9606:DEPDC1
uniprot id: Q5TB30
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: Secondary Structure
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: DEP
up seq anno comments: DEP domain-containing protein 1A
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Rho-GAP
up seq anno feature ids: PRO_0000284786
up seq anno feature ids: VAR_059798
up seq anno feature ids: VSP_024652
up seq anno feature ids: VSP_024653

9606:SESN2
gene id: 9606:SESN2
uniprot id: P58004
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: Secondary Structure
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: Crosslink
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: 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: 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: 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: 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:SDAD1
gene id: 9606:SDAD1
uniprot id: B4DT66
uniprot id: E7EW05
uniprot id: Q9NVU7
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 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: 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: In isoform 2.
up seq anno comments: NUC130_3NT
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Protein SDA1 homolog
up seq anno comments: SDA1
up seq anno feature ids: PRO_0000287482
up seq anno feature ids: VAR_032312
up seq anno feature ids: VAR_032313
up seq anno feature ids: VAR_032314
up seq anno feature ids: VAR_032315
up seq anno feature ids: VSP_025505

9606:ZNF506
gene id: 9606:ZNF506
uniprot id: Q5JVG8
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 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:SLC35E3
gene id: 9606:SLC35E3
uniprot id: A0A024RB82
uniprot id: Q7Z769
up seq anno parent labels: Experimental Information
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: Sequence Conflict
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: Solute carrier family 35 member E3
up seq anno comments: TPT
up seq anno feature ids: PRO_0000297899

9606:PABPC1L2A
gene id: 9606:PABPC1L2A
uniprot id: Q5JQF8
up seq anno parent labels: Experimental Information
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: Sequence Conflict
up seq anno comments: Polyadenylate-binding protein 1-like 2
up seq anno comments: RRM 1
up seq anno comments: RRM 2
up seq anno feature ids: PRO_0000304509

9606:PCDHA10
gene id: 9606:PCDHA10
uniprot id: Q9Y5I2
up 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 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: 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: 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: In isoform 3.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: PXXP 1
up seq anno comments: PXXP 2
up seq anno comments: PXXP 3
up seq anno comments: PXXP 4
up seq anno comments: PXXP 5
up seq anno comments: PXXP 6
up seq anno comments: Polar residues
up seq anno comments: Protocadherin alpha-10
up seq anno feature ids: PRO_0000003902
up seq anno feature ids: VAR_048535
up seq anno feature ids: VAR_048536
up seq anno feature ids: VAR_048537
up seq anno feature ids: VSP_000690
up seq anno feature ids: VSP_000691
up seq anno feature ids: VSP_000692

9606:WBP4
gene id: 9606:WBP4
uniprot id: O75554
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: Secondary Structure
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: 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: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Matrin-type
up seq anno comments: Nearly abolishes activation of pre-mRNA splicing. Abolishes interaction with WBP11.
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 comments: WW domain-binding protein 4
up seq anno feature ids: PRO_0000076065
up seq anno feature ids: VAR_036352
up seq anno feature ids: VSP_056413

9606:KRT28
gene id: 9606:KRT28
uniprot id: Q7Z3Y7
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Variant
up seq anno comments: IF rod
up seq anno comments: Keratin, type I cytoskeletal 28
up seq anno feature ids: PRO_0000312705
up seq anno feature ids: VAR_056009
up seq anno feature ids: VAR_056010
up seq anno feature ids: VAR_060236

9606:HTR3D
gene id: 9606:HTR3D
uniprot id: F6WC43
uniprot id: Q70Z44
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 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: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: 5-hydroxytryptamine receptor 3D
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: Helical; Name=3
up seq anno comments: Helical; Name=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 comments: Neur_chan_memb
up seq anno feature ids: PRO_0000312293
up seq anno feature ids: VAR_037478
up seq anno feature ids: VAR_037479
up seq anno feature ids: VAR_037480
up seq anno feature ids: VSP_029797
up seq anno feature ids: VSP_029798
up seq anno feature ids: VSP_029799
up seq anno feature ids: VSP_029800
up seq anno feature ids: VSP_029801
up seq anno feature ids: VSP_044828
up seq anno feature ids: VSP_044829
up seq anno feature ids: VSP_044830

9606:GARIN3
gene id: 9606:GARIN3
uniprot id: A0A140VJJ4
uniprot id: Q8TC56
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 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: 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: Bipartite nuclear localization signal
up seq anno comments: DUF3699
up seq anno comments: Golgi-associated RAB2 interactor protein 3
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000285643
up seq anno feature ids: VAR_032036
up seq anno feature ids: VAR_032037
up seq anno feature ids: VAR_032038

9606:MTFMT
gene id: 9606:MTFMT
uniprot id: Q96DP5
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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:SSB
gene id: 9606:SSB
uniprot id: P05455
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 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: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: HTH La-type RNA-binding
up seq anno comments: Lupus La protein
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CK2
up seq anno comments: Phosphothreonine
up seq anno comments: RRM
up seq anno comments: xRRM
up seq anno feature ids: PRO_0000207599

9606:ABI3BP
gene id: 9606:ABI3BP
uniprot id: Q7Z7G0
up 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 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: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Fibronectin type-III 1
up seq anno comments: Fibronectin type-III 2
up seq anno comments: Found in a patient with isolated coloboma; unknown pathological significance.
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 comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Target of Nesh-SH3
up seq anno feature ids: PRO_0000022472
up seq anno feature ids: VAR_079855
up seq anno feature ids: VSP_010860
up seq anno feature ids: VSP_010861
up seq anno feature ids: VSP_061186
up seq anno feature ids: VSP_061187

9606:MEIS1
gene id: 9606:MEIS1
uniprot id: O00470
up 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 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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Turn
up seq anno comments: Found in a patient with susceptibility to restless legs syndrome.
up seq anno comments: Homeobox protein Meis1
up seq anno comments: Homeobox; TALE-type
up seq anno comments: In isoform 2.
up seq anno comments: MEIS N-terminal
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000049105
up seq anno feature ids: VAR_063166
up seq anno feature ids: VSP_034957
up seq anno feature ids: VSP_034958

9606:THSD4
gene id: 9606:THSD4
uniprot id: Q6ZMP0
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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 comments: Basic and acidic residues
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: PLAC
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 comments: TSP type-1 6
up seq anno comments: Thrombospondin type-1 domain-containing protein 4
up seq anno feature ids: PRO_0000313583
up seq anno feature ids: VSP_030036
up seq anno feature ids: VSP_030037
up seq anno feature ids: VSP_030038
up seq anno feature ids: VSP_030039
up seq anno feature ids: VSP_030040
up seq anno feature ids: VSP_030041
up seq anno feature ids: VSP_054877
up seq anno feature ids: VSP_054878

9606:PTPN5
gene id: 9606:PTPN5
uniprot id: B7Z2F8
uniprot id: P54829
uniprot id: Q86TL3
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: Secondary Structure
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: 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: Transmembrane
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphocysteine intermediate
up seq anno comments: Phosphoserine; by MAPK
up seq anno comments: Phosphoserine; by PKA
up seq anno comments: Phosphothreonine; by MAPK
up seq anno comments: Pro residues
up seq anno comments: TYR_PHOSPHATASE_2
up seq anno comments: Tyrosine-protein phosphatase
up seq anno comments: Tyrosine-protein phosphatase non-receptor type 5
up seq anno feature ids: PRO_0000363657
up seq anno feature ids: VAR_054369
up seq anno feature ids: VAR_054370
up seq anno feature ids: VSP_042654
up seq anno feature ids: VSP_054561

9606:STAT5B
gene id: 9606:STAT5B
uniprot id: P51692
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: Secondary Structure
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: Abolishes interaction with INSR.
up seq anno comments: Abolishes phosphorylation by HCK.
up seq anno comments: In GHISID1; affects activation by growth hormone or interferon-gamma.
up seq anno comments: In GHISID1; transcriptionally inactive.
up seq anno comments: In GHISID2; exhibits strong growth hormone-induced phosphorylation, but no subsequent nuclear localization; when forming homodimers with the wild-type protein, may also prevent its nuclear localization following growth hormone-stimulation.
up seq anno comments: In GHISID2; loss of DNA-binding ability; when forming homodimers with the wild-type protein, may prevent wild-type binding to DNA; consequently, disruption of transcriptional activity.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Phosphotyrosine; by HCK, JAK and PTK6
up seq anno comments: SH2
up seq anno comments: Signal transducer and activator of transcription 5B
up seq anno feature ids: PRO_0000182429
up seq anno feature ids: VAR_018728
up seq anno feature ids: VAR_052074
up seq anno feature ids: VAR_067368
up seq anno feature ids: VAR_085463
up seq anno feature ids: VAR_085464
up seq anno feature ids: VAR_085465

9606:RHOB
gene id: 9606:RHOB
uniprot id: P62745
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: 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: 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:DCPS
gene id: 9606:DCPS
uniprot id: A0A384MTI8
uniprot id: Q96C86
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: Secondary Structure
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: 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Activates decapping activity to 120% of wild-type.
up seq anno comments: Basic and acidic residues
up seq anno comments: Histidine triad motif
up seq anno comments: In ARS; results in a severe decrease of decapase activity.
up seq anno comments: Increases cytoplasmic localization.
up seq anno comments: Increases decapping activity to 125% of wild-type.
up seq anno comments: Increases decapping activity to 140% of wild-type.
up seq anno comments: Increases decapping activity to 180% of wild-type.
up seq anno comments: Increases decapping activity to 250% of wild-type.
up seq anno comments: Inhibits nuclear export to the cytoplasm.
up seq anno comments: Loss of decapping activity.
up seq anno comments: Loss of decapping activity. Does not inhibit cap structure and capped RNA binding. Preferentially hydrolyzes cap structure (m7GpppG) at least 2500-fold more efficiently than capped RNA (m7Gppp-RNA).
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: No effect.
up seq anno comments: Nucleophile
up seq anno comments: Phosphoserine
up seq anno comments: Reduces decapping activity.
up seq anno comments: Removed
up seq anno comments: Strongly reduces decapping activity.
up seq anno comments: m7GpppX diphosphatase
up seq anno comments: nuclear export sequence (NES)
up seq anno comments: nuclear localization signal (NLS)
up seq anno feature ids: PRO_0000109794
up seq anno feature ids: VAR_027958
up seq anno feature ids: VAR_073956

9606:COMMD8
gene id: 9606:COMMD8
uniprot id: Q9NX08
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 labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: COMM
up seq anno comments: COMM domain-containing protein 8
up seq anno feature ids: PRO_0000077401
up seq anno feature ids: VAR_048814

9606:UBN1
gene id: 9606:UBN1
uniprot id: Q9NPG3
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: 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: Mutagenesis Site
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: 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: Strongly diminishes interaction with HIRA.
up seq anno comments: Strongly diminishes interaction with HIRA; when associated with E-138 and L-139.
up seq anno comments: Strongly diminishes interaction with HIRA; when associated with E-138 and L-140.
up seq anno comments: Strongly diminishes interaction with HIRA; when associated with E-139 and L-140.
up seq anno comments: Ubinuclein-1
up seq anno feature ids: PRO_0000065712
up seq anno feature ids: VAR_051465
up seq anno feature ids: VSP_036971

9606:ADCYAP1R1
gene id: 9606:ADCYAP1R1
uniprot id: A0A090N8F8
uniprot id: P41586
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: Secondary Structure
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: 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: G_PROTEIN_RECEP_F2_3
up seq anno comments: G_PROTEIN_RECEP_F2_4
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 N-HOP1 and isoform S-HOP1.
up seq anno comments: In isoform S, isoform S-HOP1 and isoform VS.
up seq anno comments: In isoform VS.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Pituitary adenylate cyclase-activating polypeptide type I receptor
up seq anno comments: Reduced affinity for ADCYAP1.
up seq anno comments: Strongly reduced affinity for ADCYAP1.
up seq anno feature ids: PRO_0000012841
up seq anno feature ids: PRO_5001860384
up seq anno feature ids: VSP_042669
up seq anno feature ids: VSP_042670
up seq anno feature ids: VSP_042671

9606:SAMD12
gene id: 9606:SAMD12
uniprot id: H0YEJ0
uniprot id: Q8N8I0
up seq anno parent labels: Experimental Information
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: Sequence Conflict
up seq anno comments: SAM
up seq anno comments: Sterile alpha motif domain-containing protein 12
up seq anno feature ids: PRO_0000279502

9606:CNPY2
gene id: 9606:CNPY2
uniprot id: Q9Y2B0
up 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 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: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Prevents secretion from ER
up seq anno comments: Protein canopy homolog 2
up seq anno comments: Saposin B-type
up seq anno feature ids: PRO_0000031666
up seq anno feature ids: VSP_010884
up seq anno feature ids: VSP_010885

9606:PDCD2
gene id: 9606:PDCD2
uniprot id: A0A087WYJ3
uniprot id: Q16342
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: 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 labels: Splice Variant
up seq anno labels: Zinc Finger
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 4.
up seq anno comments: In isoform 5.
up seq anno comments: MYND-type
up seq anno comments: MYND-type; atypical
up seq anno comments: Programmed cell death protein 2
up seq anno feature ids: PRO_0000218304
up seq anno feature ids: VSP_042828
up seq anno feature ids: VSP_042829
up seq anno feature ids: VSP_055159
up seq anno feature ids: VSP_055160
up seq anno feature ids: VSP_055161
up seq anno feature ids: VSP_055162

9606:ETFB
gene id: 9606:ETFB
uniprot id: P38117
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: Secondary Structure
up seq anno parent labels: 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: 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: Does not abolish electron transfer activity. Abolishes sensitivity to inhibition by lysine methyltransferase ETFBKMT.
up seq anno comments: Does not abolish electron transfer activity. Decreases sensitivity to inhibition by lysine methyltransferase ETFBKMT.
up seq anno comments: Does not abolish methylation by ETFBKMT.
up seq anno comments: Drastically increases interprotein electron transfer rates.
up seq anno comments: Electron transfer flavoprotein subunit beta
up seq anno comments: In GA2B; decreased protein stability.
up seq anno comments: In GA2B; reduced electron transfer activity.
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylalanine
up seq anno comments: N6,N6,N6-trimethyllysine; by ETFBKMT
up seq anno comments: N6,N6,N6-trimethyllysine; by ETFBKMT; 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: Removed
up seq anno comments: Severely impaired in complex formation with ACADM.
up seq anno feature ids: PRO_0000167870
up seq anno feature ids: VAR_002369
up seq anno feature ids: VAR_008548
up seq anno feature ids: VAR_025804
up seq anno feature ids: VSP_017850

9606:SC5D
gene id: 9606:SC5D
uniprot id: A0A024R3G4
uniprot id: O75845
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 labels: Chain
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 labels: Transmembrane
up seq anno comments: Fatty acid hydroxylase
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 LATHOS.
up seq anno comments: Lathosterol oxidase
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000117028
up seq anno feature ids: VAR_014423
up seq anno feature ids: VAR_014424
up seq anno feature ids: VAR_020829

9606:OC90
gene id: 9606:OC90
uniprot id: Q02509
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 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: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Otoconin-90
up seq anno feature ids: PRO_0000022993
up seq anno feature ids: VSP_059516

9606:MED23
gene id: 9606:MED23
uniprot id: Q05DL5
uniprot id: Q9ULK4
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Turn
up seq anno comments: In MRT18; specifically impairs the response of JUN and FOS immediate early genes to serum mitogens by altering the interaction between enhancer-bound transcription factors TCF7L2 and ELK1 and the Mediator complex.
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 5.
up seq anno comments: In isoform 6.
up seq anno comments: Mediator of RNA polymerase II transcription subunit 23
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000079358
up seq anno feature ids: VAR_082644
up seq anno feature ids: VSP_004034
up seq anno feature ids: VSP_004035
up seq anno feature ids: VSP_004036
up seq anno feature ids: VSP_004037
up seq anno feature ids: VSP_028380
up seq anno feature ids: VSP_047860
up seq anno feature ids: VSP_047861

9606:CPSF1
gene id: 9606:CPSF1
uniprot id: Q10570
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: Secondary Structure
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: 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: Cleavage and polyadenylation specificity factor subunit 1
up seq anno comments: In MYP27.
up seq anno comments: In MYP27; unknown pathological significance.
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000074387
up seq anno feature ids: VAR_083935
up seq anno feature ids: VAR_083936
up seq anno feature ids: VAR_083937

9606:PCDH11Y
gene id: 9606:PCDH11Y
uniprot id: Q70LR4
uniprot id: Q9BZA8
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 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 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: Cadherin 7
up seq anno comments: Cytoplasmic
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 3.
up seq anno comments: In isoform 4.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Protocadherin-11 Y-linked
up seq anno feature ids: PRO_0000232764
up seq anno feature ids: VAR_026020
up seq anno feature ids: VAR_026021
up seq anno feature ids: VAR_048576
up seq anno feature ids: VSP_017996
up seq anno feature ids: VSP_017997
up seq anno feature ids: VSP_017998
up seq anno feature ids: VSP_017999
up seq anno feature ids: VSP_018000

9606:KRTAP10-9
gene id: 9606:KRTAP10-9
uniprot id: P60411
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 labels: Chain
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
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: 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: 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 10-9
up seq anno feature ids: PRO_0000185217
up seq anno feature ids: VAR_017739
up seq anno feature ids: VAR_060052

9606:ZNF768
gene id: 9606:ZNF768
uniprot id: A0A024QZC8
uniprot id: H3BS42
uniprot id: Q9H5H4
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 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: Sequence 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 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: Increases protein stability.
up seq anno comments: No effect on protein stability.
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: Zinc finger protein 768
up seq anno feature ids: PRO_0000304408
up seq anno feature ids: VAR_035024
up seq anno feature ids: VAR_052900

9606:ZSCAN10
gene id: 9606:ZSCAN10
uniprot id: A0A5P9VN71
uniprot id: I3L1J3
uniprot id: Q96SZ4
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 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: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: Abolishes methylation by N6AMT1.
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
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: N5-methylglutamine
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: SCAN box
up seq anno comments: Zinc finger and SCAN domain-containing protein 10
up seq anno feature ids: PRO_0000047452
up seq anno feature ids: VSP_039221
up seq anno feature ids: VSP_054601
up seq anno feature ids: VSP_054602

9606:SPATA32
gene id: 9606:SPATA32
uniprot id: Q96LK8
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Spermatogenesis-associated protein 32
up seq anno feature ids: PRO_0000282906
up seq anno feature ids: VAR_060279

9606:SNTG1
gene id: 9606:SNTG1
uniprot id: A0A024R7Y0
uniprot id: A0A2R8Y5T2
uniprot id: A0A2R8Y631
uniprot id: B2RA84
uniprot id: Q9NSN8
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Splice Variant
up seq anno comments: Gamma-1-syntrophin
up seq anno comments: In isoform 2.
up seq anno comments: PDZ
up seq anno comments: PH
up seq anno feature ids: PRO_0000184013
up seq anno feature ids: VSP_006360

9606:CDS1
gene id: 9606:CDS1
uniprot id: A0A024RDG8
uniprot id: Q92903
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Basic and acidic residues
up seq anno comments: Helical
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphatidate cytidylyltransferase 1
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000090713
up seq anno feature ids: VAR_036129
up seq anno feature ids: VAR_048736

9606:PGBD1
gene id: 9606:PGBD1
uniprot id: Q96JS3
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 labels: Chain
up seq anno labels: Crosslink
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 comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Phosphoserine
up seq anno comments: PiggyBac transposable element-derived protein 1
up seq anno comments: SCAN box
up seq anno feature ids: PRO_0000288052
up seq anno feature ids: VAR_032384
up seq anno feature ids: VAR_032385
up seq anno feature ids: VAR_032386
up seq anno feature ids: VAR_032387
up seq anno feature ids: VAR_032388
up seq anno feature ids: VAR_032389
up seq anno feature ids: VAR_032390
up seq anno feature ids: VAR_051273

9606:PRADC1
gene id: 9606:PRADC1
uniprot id: Q9BSG0
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 labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Mutagenesis Site
up seq anno labels: Signal Peptide
up seq anno comments: Abolishes N-glycosylation. Abolishes N-glycosylation; when associated with Q-121.
up seq anno comments: Does not affect glycosylation state. Abolishes N-glycosylation; when associated with Q-171.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: PA
up seq anno comments: Protease-associated domain-containing protein 1
up seq anno feature ids: PRO_0000022001

9606:SEMA6C
gene id: 9606:SEMA6C
uniprot id: Q9H3T2
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 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: 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 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:B3GALNT2
gene id: 9606:B3GALNT2
uniprot id: Q8NCR0
up 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 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: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In MDDGA11.
up seq anno comments: In MDDGA11; affects subcellular localization.
up seq anno comments: In MDDGA11; does not affect subcellular localization.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2
up seq anno feature ids: PRO_0000248362
up seq anno feature ids: VAR_035860
up seq anno feature ids: VAR_069638
up seq anno feature ids: VAR_069639
up seq anno feature ids: VAR_069640
up seq anno feature ids: VAR_069641
up seq anno feature ids: VSP_020250
up seq anno feature ids: VSP_020251
up seq anno feature ids: VSP_020252

9606:CFAP95
gene id: 9606:CFAP95
uniprot id: Q5VTT2
up 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 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: Cilia- and flagella-associated protein 95
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_0000271063
up seq anno feature ids: VSP_056887

9606:KPNA3
gene id: 9606:KPNA3
uniprot id: A0A024RDV7
uniprot id: O00505
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 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: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: ARM
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: Basic and acidic residues
up seq anno comments: IBB
up seq anno comments: Importin subunit alpha-4
up seq anno comments: N-acetylalanine
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000120724
up seq anno feature ids: VAR_014454

9606:WFDC2
gene id: 9606:WFDC2
uniprot id: A0A384MTN6
uniprot id: Q14508
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 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 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: N-linked (GlcNAc...) asparagine
up seq anno comments: WAP
up seq anno comments: WAP 1
up seq anno comments: WAP 2
up seq anno comments: WAP four-disulfide core domain protein 2
up seq anno feature ids: PRO_0000041370
up seq anno feature ids: PRO_5035365865
up seq anno feature ids: VSP_007666
up seq anno feature ids: VSP_007667
up seq anno feature ids: VSP_007668
up seq anno feature ids: VSP_007669
up seq anno feature ids: VSP_007670
up seq anno feature ids: VSP_007671
up seq anno feature ids: VSP_007672

9606:MID2
gene id: 9606:MID2
uniprot id: Q6GX22
uniprot id: Q9UJV3
up 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 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: 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: B box-type
up seq anno comments: B box-type 1; degenerate
up seq anno comments: B box-type 2
up seq anno comments: B30.2/SPRY
up seq anno comments: COS
up seq anno comments: Fibronectin type-III
up seq anno comments: In XLID101; the mutant is abnormally localized in aggregates or enclosed in cytoplasmic vesicles rather than being bound to microtubules.
up seq anno comments: In isoform 2.
up seq anno comments: Probable E3 ubiquitin-protein ligase MID2
up seq anno comments: RING-type
up seq anno comments: The protein is normally bound to microtubules.
up seq anno feature ids: PRO_0000056193
up seq anno feature ids: VAR_052123
up seq anno feature ids: VAR_071835
up seq anno feature ids: VAR_071836
up seq anno feature ids: VSP_009009

9606:SHB
gene id: 9606:SHB
uniprot id: Q15464
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 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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
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: 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:TEKT4
gene id: 9606:TEKT4
uniprot id: A0A384MEB7
uniprot id: Q8WW24
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Sequence Variant
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: Polar residues
up seq anno comments: Tektin-4
up seq anno feature ids: PRO_0000261161
up seq anno feature ids: VAR_029085
up seq anno feature ids: VAR_029086
up seq anno feature ids: VAR_029087
up seq anno feature ids: VAR_035941
up seq anno feature ids: VAR_062151

9606:MYSM1
gene id: 9606:MYSM1
uniprot id: Q5VVJ2
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: Secondary Structure
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: 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: Abolishes H2A deubiquitination.
up seq anno comments: Deubiquitinase MYSM1
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In BMFS4.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: JAMM motif
up seq anno comments: LXXLL motif
up seq anno comments: MPN
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: SANT
up seq anno comments: SWIRM
up seq anno feature ids: PRO_0000234073
up seq anno feature ids: VAR_051814
up seq anno feature ids: VAR_051815
up seq anno feature ids: VAR_051816
up seq anno feature ids: VAR_081184
up seq anno feature ids: VAR_081185
up seq anno feature ids: VSP_018210
up seq anno feature ids: VSP_018211

9606:TMOD1
gene id: 9606:TMOD1
uniprot id: P28289
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: Secondary Structure
up seq anno labels: Chain
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.
up seq anno comments: Tropomodulin-1
up seq anno feature ids: PRO_0000186128
up seq anno feature ids: VSP_056863
up seq anno feature ids: VSP_056864

9606:ZCCHC8
gene id: 9606:ZCCHC8
uniprot id: Q6NZY4
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: Secondary Structure
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: 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: Basic and acidic residues
up seq anno comments: CCHC-type
up seq anno comments: Does not affect RNA helicase activity of NEXT complex; when associated with A-673.
up seq anno comments: Does not affect RNA helicase activity of NEXT complex; when associated with A-674.
up seq anno comments: Does not affect RNA helicase activity of NEXT complex; when associated with A-675.
up seq anno comments: Does not affect RNA helicase activity of NEXT complex; when associated with A-676.
up seq anno comments: Does not alter RNA helicase activity of NEXT complex; when associated with A-662.
up seq anno comments: Does not alter RNA helicase activity of NEXT complex; when associated with K-666.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Impaired interaction with ZCCHC8; when associated with E-295.
up seq anno comments: Impaired interaction with ZCCHC8; when associated with E-299.
up seq anno comments: Impaired phosphorylation by GSK3.
up seq anno comments: In PFBMFT5; decreased levels of mature TERC in patient cells consistent with impaired function in RNA processing; decreased levels of mutant protein in patient cells.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of RNA helicase activity of NEXT complex; when associated with E-688.
up seq anno comments: Loss of RNA helicase activity of NEXT complex; when associated with E-692.
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by GSK3
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Reduced interaction with ZCCHC8; when associated with A-309.
up seq anno comments: Reduced interaction with ZCCHC8; when associated with E-313.
up seq anno comments: Removed
up seq anno comments: Zinc finger CCHC domain-containing protein 8
up seq anno feature ids: PRO_0000150960
up seq anno feature ids: VAR_034585
up seq anno feature ids: VAR_083448
up seq anno feature ids: VSP_013717

9606:TMEM258
gene id: 9606:TMEM258
uniprot id: P61165
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 labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Strand
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: N-acetylmethionine
up seq anno comments: Transmembrane protein 258
up seq anno feature ids: PRO_0000221142

9606:FGF11
gene id: 9606:FGF11
uniprot id: Q92914
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno comments: Fibroblast growth factor 11
up seq anno feature ids: PRO_0000147602
up seq anno feature ids: VAR_018886

9606:ZSCAN29
gene id: 9606:ZSCAN29
uniprot id: Q05BJ4
uniprot id: Q8IWY8
uniprot id: Q96AG1
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 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: 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
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: 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: Myb_DNA-bind_4
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: SCAN box
up seq anno comments: Zinc finger and SCAN domain-containing protein 29
up seq anno feature ids: PRO_0000234011
up seq anno feature ids: VAR_057459
up seq anno feature ids: VAR_059949
up seq anno feature ids: VSP_018179
up seq anno feature ids: VSP_018180
up seq anno feature ids: VSP_018181
up seq anno feature ids: VSP_018182

9606:MAP4K4
gene id: 9606:MAP4K4
uniprot id: B7Z3V5
uniprot id: E7EN19
uniprot id: O95819
uniprot id: V9HWH3
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: Secondary Structure
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: 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: Basic and acidic residues
up seq anno comments: CNH
up seq anno comments: In isoform 2, isoform 3 and isoform 6.
up seq anno comments: In isoform 2, isoform 3, isoform 4 and isoform 5.
up seq anno comments: In isoform 2, isoform 4, isoform 5 and isoform 6.
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: Mitogen-activated protein kinase kinase kinase kinase 4
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: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Removed
up seq anno feature ids: PRO_0000086280
up seq anno feature ids: VAR_040746
up seq anno feature ids: VAR_082893
up seq anno feature ids: VSP_007054
up seq anno feature ids: VSP_007055
up seq anno feature ids: VSP_007056
up seq anno feature ids: VSP_007057
up seq anno feature ids: VSP_007058
up seq anno feature ids: VSP_058855
up seq anno feature ids: VSP_058856

9606:SSX1
gene id: 9606:SSX1
uniprot id: Q16384
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: Modified Residue
up seq anno comments: Basic and acidic residues
up seq anno comments: KRAB-related
up seq anno comments: Phosphoserine
up seq anno comments: Protein SSX1
up seq anno feature ids: PRO_0000181828

9606:DNAJA4
gene id: 9606:DNAJA4
uniprot id: Q69YX3
uniprot id: Q8WW22
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: Site
up seq anno labels: Binding 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: Non-terminal Residue
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: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: CR-type
up seq anno comments: CXXCXGXG motif
up seq anno comments: Cysteine methyl ester
up seq anno comments: DnaJ homolog subfamily A member 4
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: J
up seq anno comments: Phosphoserine
up seq anno comments: Removed in mature form
up seq anno comments: S-farnesyl cysteine
up seq anno feature ids: PRO_0000071014
up seq anno feature ids: PRO_0000396760
up seq anno feature ids: VAR_069064
up seq anno feature ids: VSP_038965
up seq anno feature ids: VSP_045696

9606:ANKRD26
gene id: 9606:ANKRD26
uniprot id: E7ESJ3
uniprot id: Q9UPS8
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 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: 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
up seq anno comments: DUF3496
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:FSD1L
gene id: 9606:FSD1L
uniprot id: A0A0C4DG97
uniprot id: B7Z3W5
uniprot id: F8W946
uniprot id: Q8N450
uniprot id: Q9BXM9
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 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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: B30.2/SPRY
up seq anno comments: Basic and acidic residues
up seq anno comments: COS
up seq anno comments: FSD1-like protein
up seq anno comments: Fibronectin type-III
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: Polar residues
up seq anno feature ids: PRO_0000089405
up seq anno feature ids: VSP_039645
up seq anno feature ids: VSP_039646
up seq anno feature ids: VSP_039647

9606:GYS1
gene id: 9606:GYS1
uniprot id: P13807
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: 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: 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: Glycogen [starch] synthase, muscle
up seq anno comments: In NIDDM.
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by AMPK and PKA
up seq anno comments: Phosphoserine; by CK2
up seq anno comments: Phosphoserine; by GSK3-alpha and GSK3-beta
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000194763
up seq anno feature ids: VAR_007859
up seq anno feature ids: VAR_014727
up seq anno feature ids: VAR_014728
up seq anno feature ids: VAR_014729
up seq anno feature ids: VAR_014730
up seq anno feature ids: VAR_014731
up seq anno feature ids: VAR_014732
up seq anno feature ids: VAR_037958
up seq anno feature ids: VSP_042745

9606:STARD8
gene id: 9606:STARD8
uniprot id: Q92502
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Asymmetric dimethylarginine
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:PNPLA5
gene id: 9606:PNPLA5
uniprot id: Q7Z6Z6
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: Site
up seq anno labels: Active 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: DGA/G
up seq anno comments: GXGXXG
up seq anno comments: GXSXG
up seq anno comments: In isoform 2.
up seq anno comments: Nucleophile
up seq anno comments: PNPLA
up seq anno comments: Patatin-like phospholipase domain-containing protein 5
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000292021
up seq anno feature ids: VAR_032932
up seq anno feature ids: VAR_032933
up seq anno feature ids: VAR_032934
up seq anno feature ids: VSP_026373

9606:POU1F1
gene id: 9606:POU1F1
uniprot id: P28069
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 labels: Chain
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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: 9aaTAD
up seq anno comments: Homeobox
up seq anno comments: In CPHD1.
up seq anno comments: In CPHD1; associated with less severe impairment of transactivation; has a similar DNA-binding affinity as the wild-type protein.
up seq anno comments: In CPHD1; associated with severe impairment of transactivation; has a greatly reduced DNA-binding affinity as the wild-type protein.
up seq anno comments: In CPHD1; loss of function.
up seq anno comments: In CPHD1; reduces transactivation capacity on the GH1 gene; increases the functional binding on the GH1 promoter; increases the interaction with ELK1, LHX3 and PITX1.
up seq anno comments: In CPHD1; reduces transactivation capacity on the PRL gene; increases instability of the protein.
up seq anno comments: In CPHD1; transactivation capacity of this mutant is markedly decreased on the GH1; PRL, TSHB and POU1F1 genes; abolishes the functional interaction of POU1F1 on the PRL promoter with the coactivator CREBBP but not with the transcription factor LHX3; displays normal nuclear accumulation but a markedly decreased binding to a DNA response element.
up seq anno comments: In isoform A.
up seq anno comments: Increases the interaction with LHX3 and PITX1. No effect on the interaction with ELK1.
up seq anno comments: Increases the interaction with LHX3. No effect on the interaction with ELK1.
up seq anno comments: No effect on the interaction with ELK1, LHX3 and PITX1.
up seq anno comments: POU-specific
up seq anno comments: Pituitary-specific positive transcription factor 1
up seq anno feature ids: PRO_0000100697
up seq anno feature ids: VAR_003776
up seq anno feature ids: VAR_003777
up seq anno feature ids: VAR_003778
up seq anno feature ids: VAR_003779
up seq anno feature ids: VAR_003780
up seq anno feature ids: VAR_003781
up seq anno feature ids: VAR_010574
up seq anno feature ids: VAR_010575
up seq anno feature ids: VAR_010576
up seq anno feature ids: VAR_015260
up seq anno feature ids: VAR_049361
up seq anno feature ids: VAR_063425
up seq anno feature ids: VAR_063426
up seq anno feature ids: VAR_063427
up seq anno feature ids: VAR_075530
up seq anno feature ids: VAR_075531
up seq anno feature ids: VSP_002314

9606:GALNT13
gene id: 9606:GALNT13
uniprot id: B3KY85
uniprot id: Q8IUC8
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: 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: 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: 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: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polypeptide N-acetylgalactosaminyltransferase 13
up seq anno comments: RICIN
up seq anno comments: Ricin B-type lectin
up seq anno feature ids: PRO_0000059130
up seq anno feature ids: VAR_049242
up seq anno feature ids: VSP_011218
up seq anno feature ids: VSP_011219
up seq anno feature ids: VSP_054411

9606:CASKIN1
gene id: 9606:CASKIN1
uniprot id: Q8WXD9
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 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: Repeat
up seq anno labels: Sequence Conflict
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: Basic and acidic residues
up seq anno comments: Caskin-1
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 comments: Pro residues
up seq anno comments: SAM 1
up seq anno comments: SAM 2
up seq anno comments: SH3
up seq anno feature ids: PRO_0000066980

9606:COL26A1
gene id: 9606:COL26A1
uniprot id: Q96A83
up 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 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: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Collagen alpha-1(XXVI) chain
up seq anno comments: Collagen-like 1
up seq anno comments: Collagen-like 2
up seq anno comments: EMI
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: Pro residues
up seq anno feature ids: PRO_0000007825
up seq anno feature ids: VAR_057530
up seq anno feature ids: VSP_008447

9606:TMPRSS6
gene id: 9606:TMPRSS6
uniprot id: Q8IU80
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: 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: Glycosylation Site
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: CUB 1
up seq anno comments: CUB 2
up seq anno comments: Charge relay system
up seq anno comments: Cytoplasmic
up seq anno comments: Does not undergo proteolytic processing.
up seq anno comments: Extracellular
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In IRIDA.
up seq anno comments: In IRIDA; does not undergo proteolytic processing; loss of activity.
up seq anno comments: In IRIDA; no effect on HJV-mediated inhibition of HAMP transcription; no effect on catalytic activity; autoproteolytic and HJV processing are not affected.
up seq anno comments: In IRIDA; no effect on HJV-mediated inhibition of HAMP transcription; no effect on localization to the cell membrane; no effect on catalytic activity; HJV processing is not affected.
up seq anno comments: In IRIDA; reduced HJV-mediated inhibition of HAMP transcription; does not undergo proteolytic processing; impaired localization to the cell membrane; able to interact with HJV.
up seq anno comments: In IRIDA; reduced HJV-mediated inhibition of HAMP transcription; loss of catalytic activity; autoproteolytic and HJV processing are impaired.
up seq anno comments: In IRIDA; reduced HJV-mediated inhibition of HAMP transcription; reduced localization to the cell membrane; altered catalytic activity; autoproteolytic processing is reduced but it retains the ability to process HJV; able to interact with HJV.
up seq anno comments: In IRIDA; reduced HJV-mediated inhibition of HAMP transcription; reduced localization to the cell membrane; loss of catalytic activity; no ability to process HJV.
up seq anno comments: In IRIDA; reduced HJV-mediated inhibition of HAMP transcription; reduced localization to the cell membrane; no effect on catalytic activity.
up seq anno comments: In IRIDA; reduced expression at the cell surface; partially retained in the Golgi apparatus; does not undergo proteolytic processing; able to interact with HJV; results in reduced inhibition of HAMP promoter.
up seq anno comments: In IRIDA; reduced proteolytic processing; reduced expression to plasma membrane; does not affect binding to HJV.
up seq anno comments: In IRIDA; results in reduced inhibition of HAMP promoter.
up seq anno comments: In IRIDA; severely reduced proteolytic processing; loss of activity.
up seq anno comments: In IRIDA; slightly reduced HJV-mediated inhibition of HAMP transcription; loss of catalytic activity; autoproteolytic and HJV processing are significantly reduced.
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.
up seq anno comments: In isoform 4.
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: N-linked (GlcNAc...) asparagine
up seq anno comments: Peptidase S1
up seq anno comments: SEA
up seq anno comments: Transmembrane protease serine 6
up seq anno feature ids: PRO_0000088696
up seq anno feature ids: VAR_036296
up seq anno feature ids: VAR_036297
up seq anno feature ids: VAR_044434
up seq anno feature ids: VAR_044435
up seq anno feature ids: VAR_044436
up seq anno feature ids: VAR_044437
up seq anno feature ids: VAR_051841
up seq anno feature ids: VAR_051842
up seq anno feature ids: VAR_051843
up seq anno feature ids: VAR_051844
up seq anno feature ids: VAR_064075
up seq anno feature ids: VAR_064076
up seq anno feature ids: VAR_064077
up seq anno feature ids: VAR_064078
up seq anno feature ids: VAR_064079
up seq anno feature ids: VAR_068665
up seq anno feature ids: VAR_068666
up seq anno feature ids: VAR_068667
up seq anno feature ids: VAR_068668
up seq anno feature ids: VAR_068669
up seq anno feature ids: VAR_068670
up seq anno feature ids: VAR_068671
up seq anno feature ids: VAR_068672
up seq anno feature ids: VAR_068673
up seq anno feature ids: VAR_068674
up seq anno feature ids: VAR_068675
up seq anno feature ids: VAR_072901
up seq anno feature ids: VAR_072902

9606:EXO5
gene id: 9606:EXO5
uniprot id: Q9H790
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: Secondary Structure
up seq anno parent labels: 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: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes iron-sulfur-binding and affects exonuclease activity; when associated with A-343.
up seq anno comments: Abolishes iron-sulfur-binding and affects exonuclease activity; when associated with A-346.
up seq anno comments: Does not affect exonuclease activity.
up seq anno comments: Exonuclease V
up seq anno comments: Nearly abolishes exonuclease activity.
up seq anno feature ids: PRO_0000307320
up seq anno feature ids: VAR_035407
up seq anno feature ids: VAR_035408

9606:RBM28
gene id: 9606:RBM28
uniprot id: A0A024R753
uniprot id: Q9NW13
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 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: 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: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In ANES.
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: RNA-binding protein 28
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: RRM 4
up seq anno comments: Removed
up seq anno feature ids: PRO_0000081785
up seq anno feature ids: VAR_045654
up seq anno feature ids: VAR_045655
up seq anno feature ids: VSP_046111

9606:CRX
gene id: 9606:CRX
uniprot id: O43186
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: DNA Binding
up seq anno labels: Sequence Variant
up seq anno comments: Cone-rod homeobox protein
up seq anno comments: Homeobox
up seq anno comments: In CORD2.
up seq anno comments: In CORD2; exhibits reduced DNA binding, transcriptional synergy and interaction with NRL.
up seq anno comments: In LCA7.
up seq anno comments: In LCA7; reduced DNA-binding ability, transcriptional synergy and interaction with NRL.
up seq anno comments: In LCA7; reduces NRL transactivation and reduces steady state levels of CRX and NRL; altered localization to the cytoplasm.
up seq anno comments: In LCA7; unknown pathological significance.
up seq anno comments: In RP.
up seq anno comments: In RP; unknown pathological significance.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno feature ids: PRO_0000048862
up seq anno feature ids: VAR_003750
up seq anno feature ids: VAR_003751
up seq anno feature ids: VAR_007946
up seq anno feature ids: VAR_007947
up seq anno feature ids: VAR_007948
up seq anno feature ids: VAR_007949
up seq anno feature ids: VAR_008282
up seq anno feature ids: VAR_008714
up seq anno feature ids: VAR_036438
up seq anno feature ids: VAR_063919
up seq anno feature ids: VAR_067189
up seq anno feature ids: VAR_067190
up seq anno feature ids: VAR_076956
up seq anno feature ids: VAR_076957
up seq anno feature ids: VAR_076958

9606:TRIM55
gene id: 9606:TRIM55
uniprot id: Q9BYV6
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: 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: 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: B box-type
up seq anno comments: COS
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: Pro residues
up seq anno comments: RING-type
up seq anno comments: Rare variant; found in a patient with hypertrophic cardiomyopathy; unknown pathological significance.
up seq anno comments: Tripartite motif-containing protein 55
up seq anno feature ids: PRO_0000056286
up seq anno feature ids: VAR_052144
up seq anno feature ids: VAR_074078
up seq anno feature ids: VAR_074079
up seq anno feature ids: VAR_074080
up seq anno feature ids: VAR_074081
up seq anno feature ids: VAR_074082
up seq anno feature ids: VAR_074083
up seq anno feature ids: VAR_074084
up seq anno feature ids: VAR_074085
up seq anno feature ids: VAR_074086
up seq anno feature ids: VAR_074087
up seq anno feature ids: VAR_074088
up seq anno feature ids: VAR_074089
up seq anno feature ids: VAR_074090
up seq anno feature ids: VAR_074091
up seq anno feature ids: VAR_082913
up seq anno feature ids: VSP_015996
up seq anno feature ids: VSP_015997
up seq anno feature ids: VSP_015998

9606:DNAJC25
gene id: 9606:DNAJC25
uniprot id: Q9H1X3
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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: DnaJ homolog subfamily C member 25
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: J
up seq anno feature ids: PRO_0000348569
up seq anno feature ids: VSP_035180
up seq anno feature ids: VSP_035181
up seq anno feature ids: VSP_035182

9606:ARNTL
gene id: 9606:ARNTL
uniprot id: A0A140VKD3
uniprot id: A0A669KBF4
uniprot id: B2RCL8
uniprot id: O00327
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: Secondary Structure
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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: 2-2.5-fold increase in CLOCK-BMAL1 transcriptional activity in the absence of CRY1. No change in repression activity in the presence of CRY1.
up seq anno comments: BHLH
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic helix-loop-helix ARNT-like protein 1
up seq anno comments: Enhanced PER1 reporter activity by CLOCK-BMAL1.
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: Impaired CLOCK binding.
up seq anno comments: In isoform 8 and isoform 9.
up seq anno comments: In isoform BMAL1A and isoform 9.
up seq anno comments: In isoform BMAL1C.
up seq anno comments: In isoform BMAL1D.
up seq anno comments: In isoform BMAL1E.
up seq anno comments: In isoform BMAL1F.
up seq anno comments: In isoform MOP3.
up seq anno comments: Increased desensitization to CRY1, in the presence of CLOCK. Approximately 2-fold increase in CLOCK-BMAL1 transcriptional activity in the absence of CRY1.
up seq anno comments: Increased desensitization to CRY1, in the presence of CLOCK. Approximately 2-fold increase in CLOCK-BMAL1 transcriptional activity in the absence of CRY1; when associated with E-407.
up seq anno comments: N6-acetyllysine
up seq anno comments: No effect on CLOCK binding.
up seq anno comments: Nuclear export signal 1
up seq anno comments: Nuclear export signal 2
up seq anno comments: Nuclear localization signal
up seq anno comments: PAC
up seq anno comments: PAS
up seq anno comments: PAS 1
up seq anno comments: PAS 2
up seq anno comments: Phosphomimetic mutant which severely impairs DNA binding and CLOCK-BMAL1 transcriptional activity.
up seq anno comments: Phosphomimetic mutant with no effect on DNA binding or CLOCK-BMAL1 transcriptional activity.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CK2
up seq anno comments: Phosphoserine; by GSK3-beta
up seq anno comments: Phosphothreonine; by GSK3-beta
up seq anno comments: Polar residues
up seq anno comments: bHLH
up seq anno feature ids: PRO_0000127156
up seq anno feature ids: VSP_002094
up seq anno feature ids: VSP_002095
up seq anno feature ids: VSP_002096
up seq anno feature ids: VSP_002097
up seq anno feature ids: VSP_002098
up seq anno feature ids: VSP_002099
up seq anno feature ids: VSP_002100
up seq anno feature ids: VSP_002101
up seq anno feature ids: VSP_002102
up seq anno feature ids: VSP_035457

9606:S100A1
gene id: 9606:S100A1
uniprot id: A0A0S2Z4H2
uniprot id: P23297
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: 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: EF-hand
up seq anno comments: EF-hand 1
up seq anno comments: EF-hand 2
up seq anno comments: Protein S100-A1
up seq anno comments: S-nitrosocysteine
up seq anno feature ids: PRO_0000143961

9606:PHKA1
gene id: 9606:PHKA1
uniprot id: P46020
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: In GSD9D.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PKA
up seq anno comments: Phosphoserine; by autocatalysis
up seq anno comments: Polar residues
up seq anno comments: S-farnesyl cysteine
up seq anno feature ids: PRO_0000057726
up seq anno feature ids: VAR_020856
up seq anno feature ids: VSP_004697
up seq anno feature ids: VSP_042517
up seq anno feature ids: VSP_042518

9606:LIN37
gene id: 9606:LIN37
uniprot id: Q96GY3
up 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 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: Sequence Variant
up seq anno labels: Strand
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Pro residues
up seq anno comments: Protein lin-37 homolog
up seq anno feature ids: PRO_0000238479
up seq anno feature ids: VAR_051093
up seq anno feature ids: VAR_061674

9606:LSM2
gene id: 9606:LSM2
uniprot id: Q9Y333
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: Domain Extent
up seq anno labels: Modified Residue
up seq anno comments: Phosphothreonine
up seq anno comments: Sm
up seq anno comments: U6 snRNA-associated Sm-like protein LSm2
up seq anno feature ids: PRO_0000125556

9606:ZMYM5
gene id: 9606:ZMYM5
uniprot id: Q9UJ78
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: Secondary Structure
up seq anno labels: Chain
up seq anno labels: Crosslink
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: 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 ETV5. Abolished repression activity.
up seq anno comments: Abolishes interaction with ETV5. No effect on repression activity.
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: In isoform 3.
up seq anno comments: In isoform 5.
up seq anno comments: Increases repression activity.
up seq anno comments: MYM-type 1
up seq anno comments: MYM-type 2
up seq anno comments: MYM-type 3
up seq anno comments: MYM-type 4
up seq anno comments: No effect on repression activity.
up seq anno comments: Zinc finger MYM-type protein 5
up seq anno feature ids: PRO_0000191380
up seq anno feature ids: VAR_025508
up seq anno feature ids: VAR_025509
up seq anno feature ids: VAR_062160
up seq anno feature ids: VSP_011442
up seq anno feature ids: VSP_011443
up seq anno feature ids: VSP_011444
up seq anno feature ids: VSP_011445
up seq anno feature ids: VSP_034645
up seq anno feature ids: VSP_034646
up seq anno feature ids: VSP_034647

9606:ASB2
gene id: 9606:ASB2
uniprot id: A0A024R6E7
uniprot id: Q96Q27
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 labels: Chain
up seq anno labels: Domain Extent
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: Splice Variant
up seq anno comments: ANK
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 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: Abolishes monoubiquitination.
up seq anno comments: Abolishes phosphorylation. Abolishes degradation of FLNA. No effect on assembly into ubiquitin-protein ligase complex.
up seq anno comments: Ankyrin repeat and SOCS box protein 2
up seq anno comments: In isoform 2.
up seq anno comments: No interaction with CUL5 or RNF7.
up seq anno comments: No interaction with Elongin BC complex.
up seq anno comments: Phosphomimetic mutant. No effect on isoform 2 FLNA degradation. No effect on assembly into ubiquitin-protein ligase complex.
up seq anno comments: Phosphoserine; by MAPK
up seq anno comments: SOCS box
up seq anno comments: UIM
up seq anno feature ids: PRO_0000066925
up seq anno feature ids: VAR_022089
up seq anno feature ids: VSP_061164

9606:SLC38A8
gene id: 9606:SLC38A8
uniprot id: A6NNN8
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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: In FVH2.
up seq anno comments: Putative sodium-coupled neutral amino acid transporter 8
up seq anno feature ids: PRO_0000319593
up seq anno feature ids: VAR_048125
up seq anno feature ids: VAR_071252
up seq anno feature ids: VAR_071253
up seq anno feature ids: VAR_071254
up seq anno feature ids: VAR_071255
up seq anno feature ids: VAR_071256
up seq anno feature ids: VAR_071257

9606:SYNJ2
gene id: 9606:SYNJ2
uniprot id: A0A1W2PR85
uniprot id: B4DG94
uniprot id: O15056
up 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 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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: In isoform 2A.
up seq anno comments: In isoform 2B1.
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: SAC
up seq anno comments: Synaptojanin-2
up seq anno feature ids: PRO_0000209733
up seq anno feature ids: VAR_024507
up seq anno feature ids: VSP_012911
up seq anno feature ids: VSP_012912
up seq anno feature ids: VSP_012913

9606:KRTAP10-11
gene id: 9606:KRTAP10-11
uniprot id: P60411
uniprot id: P60412
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 labels: Chain
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
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: 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: 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 10-11
up seq anno comments: Keratin-associated protein 10-9
up seq anno feature ids: PRO_0000185217
up seq anno feature ids: PRO_0000185219
up seq anno feature ids: VAR_017739
up seq anno feature ids: VAR_060052
up seq anno feature ids: VAR_060056

9606:GALC
gene id: 9606:GALC
uniprot id: A0A0A0MQV0
uniprot id: P54803
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: 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: 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: Galactocerebrosidase
up seq anno comments: Glyco_hydro_59M
up seq anno comments: In GLD.
up seq anno comments: In GLD; Arab patients.
up seq anno comments: In GLD; adult.
up seq anno comments: In GLD; adult; reduction of activity; when associated with V-2105.
up seq anno comments: In GLD; bilateral cherry red spots.
up seq anno comments: In GLD; infantile.
up seq anno comments: In GLD; infantile; Druze patients.
up seq anno comments: In GLD; infantile; significant reduction of activity.
up seq anno comments: In GLD; late infantile.
up seq anno comments: In GLD; loss of activity.
up seq anno comments: In GLD; significant reduction of activity.
up seq anno comments: In GLD; unknown pathological significance.
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: Nucleophile
up seq anno comments: Proton donor/acceptor
up seq anno feature ids: PRO_0000012230
up seq anno feature ids: PRO_5014220091
up seq anno feature ids: VAR_003380
up seq anno feature ids: VAR_003381
up seq anno feature ids: VAR_003382
up seq anno feature ids: VAR_003383
up seq anno feature ids: VAR_003384
up seq anno feature ids: VAR_003385
up seq anno feature ids: VAR_003386
up seq anno feature ids: VAR_003387
up seq anno feature ids: VAR_003388
up seq anno feature ids: VAR_003389
up seq anno feature ids: VAR_003390
up seq anno feature ids: VAR_003391
up seq anno feature ids: VAR_003392
up seq anno feature ids: VAR_003393
up seq anno feature ids: VAR_003394
up seq anno feature ids: VAR_003395
up seq anno feature ids: VAR_003396
up seq anno feature ids: VAR_003397
up seq anno feature ids: VAR_003398
up seq anno feature ids: VAR_003399
up seq anno feature ids: VAR_003400
up seq anno feature ids: VAR_003401
up seq anno feature ids: VAR_003402
up seq anno feature ids: VAR_003403
up seq anno feature ids: VAR_003404
up seq anno feature ids: VAR_003405
up seq anno feature ids: VAR_003406
up seq anno feature ids: VAR_003407
up seq anno feature ids: VAR_013956
up seq anno feature ids: VAR_013957
up seq anno feature ids: VAR_013958
up seq anno feature ids: VAR_013959
up seq anno feature ids: VAR_013960
up seq anno feature ids: VAR_013961
up seq anno feature ids: VAR_013962
up seq anno feature ids: VAR_013963
up seq anno feature ids: VAR_013964
up seq anno feature ids: VAR_013965
up seq anno feature ids: VAR_013966

9606:CASP7
gene id: 9606:CASP7
uniprot id: A0A0A0MRL7
uniprot id: B4DWA2
uniprot id: P55210
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: Secondary Structure
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: 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: 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) ADP-riboxanated arginine
up seq anno comments: Abolished ADP-riboxanation by C.violaceum CopC.
up seq anno comments: Abolished cleavage at the N-terminus, leading to impaired activation and thiol protease activity. In P7-D2A mutant; abolished cleavage and activation, leading to decreased but mesureable activity; when associated with A-198.
up seq anno comments: Abolished phosphorylation by PAK2; when associated with A-173 and A-239.
up seq anno comments: Abolished phosphorylation by PAK2; when associated with A-30 and A-173.
up seq anno comments: Abolished phosphorylation by PAK2; when associated with A-30 and A-239.
up seq anno comments: Abolished thiol protease activity.
up seq anno comments: Acidic residues
up seq anno comments: CASPASE_P10
up seq anno comments: CASPASE_P20
up seq anno comments: Caspase-7 subunit p11
up seq anno comments: Caspase-7 subunit p20
up seq anno comments: Decreased ability to cleave PARP1 and PTGES3.
up seq anno comments: Decreased ability to cleave PARP1.
up seq anno comments: Decreased ability to cleave PARP1. Decreased RNA-binding.
up seq anno comments: Decreased phosphorylation by PAK2.
up seq anno comments: Does not affect ability to cleave PARP1.
up seq anno comments: Does not significantly affect thiol protease catalytic activity.
up seq anno comments: Does not significantly affect thiol protease catalytic efficiency.
up seq anno comments: In dsCasp-7 mutant; unable to cleave DEVD and VEID peptides; when associated with F-276.
up seq anno comments: In dsCasp-7 mutant; unable to cleave DEVD sand VEID peptides; when associated with 232-H--E-234.
up seq anno comments: In esCasp-7 V3 mutant; promotes specificity toward alternate peptides with VEID, YVAD, WEHD, LETD or LEHD sequence; when associated with 230-V--V-234.
up seq anno comments: In esCasp-7 V3 mutant; promotes specificity toward alternate peptides with VEID, YVAD, WEHD, LETD or LEHD sequence; when associated with C-276. In esCasp-7 V4 mutant; promotes specificity toward alternate peptides with VEID, YVAD, WEHD, LETD or LEHD sequence; when associated with D-276.
up seq anno comments: In esCasp-7 V4 mutant; promotes specificity toward alternate peptides with VEID, YVAD, WEHD, LETD or LEHD sequence; when associated with 230-V--V-234.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform Alpha'.
up seq anno comments: In isoform Beta.
up seq anno comments: In mutant II; prevents cleavage of loop L2 region; retains significant thiol protease activity.
up seq anno comments: In mutant III; prevents cleavage of loop L2 region; abolished thiol protease activity.
up seq anno comments: In mutant IV; prevents cleavage of loop L2 region; retains significant thiol protease activity.
up seq anno comments: Mimics phosphorylation; does not affect thiol protease activity.
up seq anno comments: Mimics phosphorylation; leading to inactivate thiol protease activity.
up seq anno comments: N-acetylalanine
up seq anno comments: N-terminally processed
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PAK2
up seq anno comments: Phosphothreonine; by PAK2
up seq anno comments: Reduced cleavage and activation by initiator caspases. Abolished cleavage and activation by initiator caspases; when associated with A-198.
up seq anno comments: Reduced thiol protease catalytic efficiency.
up seq anno comments: Removed
up seq anno comments: Strongly reduced cleavage and activation by initiator caspases. Abolished cleavage and activation by initiator caspases; when associated with A-206. In P7-D2A mutant; abolished cleavage and activation, leading to decreased but mesureable activity; when associated with A-23.
up seq anno comments: Strongly reduced thiol protease activity.
up seq anno comments: Strongly reduced thiol protease catalytic efficiency.
up seq anno feature ids: PRO_0000004616
up seq anno feature ids: PRO_0000004617
up seq anno feature ids: PRO_0000004618
up seq anno feature ids: PRO_0000004619
up seq anno feature ids: VAR_048617
up seq anno feature ids: VAR_048618
up seq anno feature ids: VSP_000806
up seq anno feature ids: VSP_000807
up seq anno feature ids: VSP_045325

9606:MSH5
gene id: 9606:MSH5
uniprot id: A0A024RCM1
uniprot id: A0A024RCV6
uniprot id: O43196
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: 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 labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: DNA_MISMATCH_REPAIR_2
up seq anno comments: In POF13; decreased function in DNA repair as suggested by the persistence of gamma-H2AX foci following cell treatment with etoposide.
up seq anno comments: In POF13; unknown pathological significance.
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 4.
up seq anno comments: MutS protein homolog 5
up seq anno feature ids: PRO_0000115202
up seq anno feature ids: VAR_025082
up seq anno feature ids: VAR_025083
up seq anno feature ids: VAR_025084
up seq anno feature ids: VAR_025085
up seq anno feature ids: VAR_025086
up seq anno feature ids: VAR_025087
up seq anno feature ids: VAR_025088
up seq anno feature ids: VAR_078116
up seq anno feature ids: VAR_078117
up seq anno feature ids: VAR_078118
up seq anno feature ids: VSP_017113
up seq anno feature ids: VSP_017114
up seq anno feature ids: VSP_017115

9606:ATP13A4
gene id: 9606:ATP13A4
uniprot id: Q4VNC1
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: Site
up seq anno labels: Active Site
up seq anno labels: Binding Site
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: 4-aspartylphosphate intermediate
up seq anno comments: Cytoplasmic
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: Lumenal
up seq anno comments: Probable cation-transporting ATPase 13A4
up seq anno feature ids: PRO_0000318675
up seq anno feature ids: VAR_038849
up seq anno feature ids: VAR_038850
up seq anno feature ids: VAR_038851
up seq anno feature ids: VSP_031258
up seq anno feature ids: VSP_031259
up seq anno feature ids: VSP_031260
up seq anno feature ids: VSP_031261

9606:TOR4A
gene id: 9606:TOR4A
uniprot id: Q9NXH8
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: 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: Transmembrane
up seq anno comments: Helical
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Torsin-4A
up seq anno feature ids: PRO_0000287489

9606:PAX3
gene id: 9606:PAX3
uniprot id: P23760
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: Secondary Structure
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: 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: Homeobox
up seq anno comments: In CDHS.
up seq anno comments: In WS1 and WS3.
up seq anno comments: In WS1.
up seq anno comments: In WS1; associated with H-271 in one family; unknown pathological significance.
up seq anno comments: In WS1; associated with K-273 in one family.
up seq anno comments: In WS1; associated with meningomyelocele.
up seq anno comments: In WS1; important hearing loss.
up seq anno comments: In WS1; originally classified as Waardenburg syndrome type 2.
up seq anno comments: In WS1; results in decreased transcriptional activation of MITF; no effect on localization to nucleus; no effect on interaction with SOX10.
up seq anno comments: In WS3.
up seq anno comments: In isoform 6 and isoform 7.
up seq anno comments: In isoform 6.
up seq anno comments: In isoform Pax3A.
up seq anno comments: In isoform Pax3B.
up seq anno comments: In isoform Pax3E.
up seq anno comments: In isoform Pax3G.
up seq anno comments: In isoform Pax3H.
up seq anno comments: Paired
up seq anno comments: Paired box protein Pax-3
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000050178
up seq anno feature ids: VAR_003790
up seq anno feature ids: VAR_003791
up seq anno feature ids: VAR_003792
up seq anno feature ids: VAR_003793
up seq anno feature ids: VAR_003794
up seq anno feature ids: VAR_003795
up seq anno feature ids: VAR_003796
up seq anno feature ids: VAR_003797
up seq anno feature ids: VAR_003798
up seq anno feature ids: VAR_003799
up seq anno feature ids: VAR_003800
up seq anno feature ids: VAR_003801
up seq anno feature ids: VAR_003802
up seq anno feature ids: VAR_003803
up seq anno feature ids: VAR_003804
up seq anno feature ids: VAR_003805
up seq anno feature ids: VAR_003806
up seq anno feature ids: VAR_003807
up seq anno feature ids: VAR_013619
up seq anno feature ids: VAR_013640
up seq anno feature ids: VAR_013641
up seq anno feature ids: VAR_017533
up seq anno feature ids: VAR_017534
up seq anno feature ids: VAR_017535
up seq anno feature ids: VAR_017536
up seq anno feature ids: VAR_017537
up seq anno feature ids: VAR_017538
up seq anno feature ids: VAR_017539
up seq anno feature ids: VAR_079619
up seq anno feature ids: VAR_079620
up seq anno feature ids: VAR_079621
up seq anno feature ids: VSP_002355
up seq anno feature ids: VSP_002356
up seq anno feature ids: VSP_002357
up seq anno feature ids: VSP_002358
up seq anno feature ids: VSP_042004
up seq anno feature ids: VSP_042005
up seq anno feature ids: VSP_043634
up seq anno feature ids: VSP_043635
up seq anno feature ids: VSP_044915

9606:HOXC6
gene id: 9606:HOXC6
uniprot id: P09630
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Motif
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Antp-type hexapeptide
up seq anno comments: Basic and acidic residues
up seq anno comments: Homeobox
up seq anno comments: Homeobox protein Hox-C6
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000200174
up seq anno feature ids: VSP_002392

9606:SPINT1
gene id: 9606:SPINT1
uniprot id: O43278
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: Secondary Structure
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: BPTI/Kunitz inhibitor 1
up seq anno comments: BPTI/Kunitz inhibitor 2
up seq anno comments: In isoform 2.
up seq anno comments: Kunitz-type protease inhibitor 1
up seq anno comments: LDL-receptor class A
up seq anno comments: MANSC
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000016883
up seq anno feature ids: VAR_050065
up seq anno feature ids: VAR_050066
up seq anno feature ids: VAR_050067
up seq anno feature ids: VSP_013019

9606:WLS
gene id: 9606:WLS
uniprot id: Q5T9L3
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 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: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
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: Helical; Name=8
up seq anno comments: In ZKS; results in decreased secretion of WNT3A and WNT5A; decreased activation of WNT signaling.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Lumenal
up seq anno comments: Protein wntless homolog
up seq anno feature ids: PRO_0000271777
up seq anno feature ids: VAR_029991
up seq anno feature ids: VAR_086565
up seq anno feature ids: VAR_086566
up seq anno feature ids: VAR_086567
up seq anno feature ids: VAR_086568
up seq anno feature ids: VSP_022346
up seq anno feature ids: VSP_022347
up seq anno feature ids: VSP_046143

9606:PIGY
gene id: 9606:PIGY
uniprot id: Q3MUY2
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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 comments: Cytoplasmic
up seq anno comments: Helical
up seq anno comments: In HPMRS6; may diminish protein expression and/or stability; decreases cell surface expression of GPI-anchored proteins, including CD55 and CD59, in skin fibroblasts from affected individual.
up seq anno comments: Lumenal
up seq anno comments: Phosphatidylinositol N-acetylglucosaminyltransferase subunit Y
up seq anno feature ids: PRO_0000246311
up seq anno feature ids: VAR_076351

9606:CT62
gene id: 9606:CT62
uniprot id: P0C5K7
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno comments: Cancer/testis antigen 62
up seq anno feature ids: PRO_0000308968

9606:OGN
gene id: 9606:OGN
uniprot id: A8K0R3
uniprot id: P20774
uniprot id: Q7Z532
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: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Repeat
up seq anno labels: Signal Peptide
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: Mimecan
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: O-linked (GalNAc...) threonine
up seq anno feature ids: PRO_0000032760
up seq anno feature ids: PRO_5004295239
up seq anno feature ids: PRO_5014297550

9606:EEF1AKMT3
gene id: 9606:EEF1AKMT3
uniprot id: Q96AZ1
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: 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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: EEF1A lysine methyltransferase 3
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno feature ids: PRO_0000291850
up seq anno feature ids: VAR_032869
up seq anno feature ids: VSP_026268
up seq anno feature ids: VSP_026269
up seq anno feature ids: VSP_026270
up seq anno feature ids: VSP_026271

9606:CT47A8
gene id: 9606:CT47A8
uniprot id: Q5JQC4
up seq anno parent labels: Experimental Information
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: Sequence Conflict
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Cancer/testis antigen 47A
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000284450

9606:TRPM2
gene id: 9606:TRPM2
uniprot id: B4DVI8
uniprot id: O94759
uniprot id: Q14DR2
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: Secondary Structure
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: Helix
up seq anno labels: INTRAMEM
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: 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: 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
up seq anno feature ids: VAR_025220
up seq anno feature ids: VAR_025221
up seq anno feature ids: VAR_025222
up seq anno feature ids: VAR_025223
up seq anno feature ids: VAR_025224
up seq anno feature ids: VAR_025225
up seq anno feature ids: VAR_025226
up seq anno feature ids: VAR_025227
up seq anno feature ids: VSP_006574
up seq anno feature ids: VSP_006575
up seq anno feature ids: VSP_013018

9606:FNBP1L
gene id: 9606:FNBP1L
uniprot id: B4DSI7
uniprot id: Q5T0N5
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 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: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: F-BAR
up seq anno comments: Formin-binding protein 1-like
up seq anno comments: Impairs interaction with CDC42 and reduces CDC42-induced actin assembly.
up seq anno comments: Impairs interaction with WASL and reduces CDC42-induced actin assembly.
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 5.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: REM-1
up seq anno comments: SH3
up seq anno feature ids: PRO_0000261434
up seq anno feature ids: VSP_021709
up seq anno feature ids: VSP_021710
up seq anno feature ids: VSP_021711

9606:HSD11B1
gene id: 9606:HSD11B1
uniprot id: P28845
uniprot id: X5D2L1
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: Secondary Structure
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: 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:ERO1B
gene id: 9606:ERO1B
uniprot id: Q86YB8
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: 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 Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Alternate
up seq anno comments: ERO1-like protein beta
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No effect on catalytic activity when DTT is used as an electron donor; when associated with A-90. Loss of catalytic activity when P4HB is used as an electron donor; when associated with A-90.
up seq anno comments: No effect on catalytic activity when DTT is used as an electron donor; when associated with A-95. Loss of catalytic activity when P4HB is used as an electron donor; when associated with A-95.
up seq anno comments: Redox-active
up seq anno comments: Redox-active; alternate
up seq anno comments: Slightly decrease in activity. Significant increased activity; when associated with A-130.
up seq anno comments: Small increase in activity. Significant increased activity; when associated with A-130.
up seq anno comments: Some decrease in P4HB-binding. Efficient homodimerization with wild-type protein, but loss of homodimerization with A-396 mutated protein. Loss of catalytic activity when DTT or P4HB are used as an electron donor; when associated with A-393.
up seq anno comments: Some decrease in P4HB-binding. Efficient homodimerization with wild-type protein. Loss of catalytic activity when DTT or P4HB are used as an electron donor; when associated with A-396.
up seq anno comments: Strong decrease in P4HB-binding. Efficient homodimerization with both wild-type and A-390 mutated protein.
up seq anno feature ids: PRO_0000008418
up seq anno feature ids: VAR_019492
up seq anno feature ids: VAR_028012
up seq anno feature ids: VSP_056988

9606:TMEM267
gene id: 9606:TMEM267
uniprot id: A0A024R0B8
uniprot id: Q0VDI3
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
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 267
up seq anno feature ids: PRO_0000281921

9606:RCL1
gene id: 9606:RCL1
uniprot id: Q5VZU3
uniprot id: Q9Y2P8
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 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-like protein
up seq anno comments: RTC
up seq anno comments: RTC_insert
up seq anno feature ids: PRO_0000156438
up seq anno feature ids: VSP_056452
up seq anno feature ids: VSP_056453

9606:EIF1
gene id: 9606:EIF1
uniprot id: P41567
uniprot id: Q6IAV3
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: Secondary Structure
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 labels: Turn
up seq anno comments: Eukaryotic translation initiation factor 1
up seq anno comments: N-acetylserine
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno comments: SUI1
up seq anno feature ids: PRO_0000130554
up seq anno feature ids: VAR_052505
up seq anno feature ids: VAR_052506

9606:NCKAP5L
gene id: 9606:NCKAP5L
uniprot id: Q9HCH0
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 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: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: (S/T)X(I/L)P motif 1
up seq anno comments: (S/T)X(I/L)P motif 2
up seq anno comments: (S/T)X(I/L)P motif 3; required for interaction with MAPRE1
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 4.
up seq anno comments: Loss of interaction with MAPRE1 and significantly reduced localization to microtubule plus ends. Loss of interaction with MAPRE1 and localization to microtubule plus ends; when associated with 486-A-A-487 and 818-A-A-819.
up seq anno comments: Nck-associated protein 5-like
up seq anno comments: No decrease in localization to microtubule plus ends. Loss of interaction with MAPRE1 and localization to microtubule plus ends; when associated with 486-A-A-487 and 928-A-A-929.
up seq anno comments: No decrease in localization to microtubule plus ends. Loss of interaction with MAPRE1 and localization to microtubule plus ends; when associated with 818-A-A-819 and 928-A-A-929.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CDK1
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000288447
up seq anno feature ids: VSP_025678
up seq anno feature ids: VSP_033818
up seq anno feature ids: VSP_033819

9606:INAVA
gene id: 9606:INAVA
uniprot id: Q3KP66
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Decreases interaction with YWHAQ, cellular signaling pathway activation and cytokine secretion.
up seq anno comments: In IBD29; decreases protein stability.
up seq anno comments: In isoform 2.
up seq anno comments: Innate immunity activator protein
up seq anno comments: No effect on nuclear translocation upon induction by MDP. Abolishes nuclear translocation upon induction by MDP and slightly decreases NOD2-induced AP-1 and NF-kappaB activation and IL6 secretion; when associated with 164-A--A-170 and 335-A--A-338.
up seq anno comments: No effect on nuclear translocation upon induction by MDP. Abolishes nuclear translocation upon induction by MDP and slightly decreases NOD2-induced AP-1 and NF-kappaB activation and IL6 secretion; when associated with 164-A--A-170 and 423-A--A-426.
up seq anno comments: No effect on nuclear translocation upon induction by MDP. Abolishes nuclear translocation upon induction by MDP and slightly decreases NOD2-induced AP-1 and NF-kappaB activation and IL6 secretion; when associated with 335-A--A-338 and 423-A--A-426.
up seq anno comments: Nuclear localization signal (NLS) 1
up seq anno comments: Nuclear localization signal (NLS) 2
up seq anno comments: Nuclear localization signal (NLS) 3
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000251729
up seq anno feature ids: VAR_030835
up seq anno feature ids: VAR_080249
up seq anno feature ids: VSP_046048

9606:NUDT11
gene id: 9606:NUDT11
uniprot id: Q96G61
up 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 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: Motif
up seq anno labels: Sequence Variant
up seq anno comments: Diphosphoinositol polyphosphate phosphohydrolase 3-beta
up seq anno comments: Nudix box
up seq anno comments: Nudix hydrolase
up seq anno comments: Polar residues
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000057065
up seq anno feature ids: VAR_022738

9606:DIP2A
gene id: 9606:DIP2A
uniprot id: Q14689
uniprot id: Q96NX2
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 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: 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: AMP-binding
up seq anno comments: Basic and acidic residues
up seq anno comments: DMAP1-binding
up seq anno comments: Disco-interacting protein 2 homolog A
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: PXXP motif; required for interaction with CTTN
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000079906
up seq anno feature ids: VAR_047372
up seq anno feature ids: VAR_047373
up seq anno feature ids: VSP_007748
up seq anno feature ids: VSP_007749
up seq anno feature ids: VSP_007750
up seq anno feature ids: VSP_007751
up seq anno feature ids: VSP_045408
up seq anno feature ids: VSP_045409
up seq anno feature ids: VSP_045410
up seq anno feature ids: VSP_047246

9606:ZBTB14
gene id: 9606:ZBTB14
uniprot id: B2R850
uniprot id: O43829
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
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: Zinc Finger
up seq anno comments: Acidic residues
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: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Nuclear localization signal
up seq anno comments: Polar residues
up seq anno comments: Zinc finger and BTB domain-containing protein 14
up seq anno feature ids: PRO_0000047317
up seq anno feature ids: VAR_027810
up seq anno feature ids: VAR_027811

9606:ASAP3
gene id: 9606:ASAP3
uniprot id: A0A024RAB1
uniprot id: B4DRP2
uniprot id: Q8TDY4
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 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: 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: ANK
up seq anno comments: ANK 1
up seq anno comments: ANK 2
up seq anno comments: Arf-GAP
up seq anno comments: Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3
up seq anno comments: C4-type
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: PH
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000232887
up seq anno feature ids: VAR_035612
up seq anno feature ids: VAR_048295
up seq anno feature ids: VSP_018013
up seq anno feature ids: VSP_039827

9606:CNTNAP5
gene id: 9606:CNTNAP5
uniprot id: Q8WYK1
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 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: Contactin-associated protein-like 5
up seq anno comments: Cytoplasmic
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: 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_0000317377
up seq anno feature ids: VAR_038518
up seq anno feature ids: VAR_038519

9606:MED24
gene id: 9606:MED24
uniprot id: O75448
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: Secondary Structure
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: 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: 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: LXXLL motif 6
up seq anno comments: Mediator of RNA polymerase II transcription subunit 24
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000065582
up seq anno feature ids: VAR_053969
up seq anno feature ids: VSP_041125

9606:TMEM214
gene id: 9606:TMEM214
uniprot id: Q6NUQ4
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 labels: Chain
up seq anno labels: Glycosylation Site
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: Transmembrane
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylalanine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Removed
up seq anno comments: Transmembrane protein 214
up seq anno feature ids: PRO_0000321897
up seq anno feature ids: VAR_039370
up seq anno feature ids: VSP_041155

9606:CD7
gene id: 9606:CD7
uniprot id: P09564
uniprot id: Q29VG3
up 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 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: 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: Cytoplasmic
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:OR5B12
gene id: 9606:OR5B12
uniprot id: Q96R08
up 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 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 5B12
up seq anno feature ids: PRO_0000150587
up seq anno feature ids: VAR_053191
up seq anno feature ids: VAR_053192

9606:HOMEZ
gene id: 9606:HOMEZ
uniprot id: Q8IX15
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: Secondary Structure
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: Motif
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Homeobox 1
up seq anno comments: Homeobox 2
up seq anno comments: Homeobox 3
up seq anno comments: Homeobox and leucine zipper protein Homez
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: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000049135
up seq anno feature ids: VAR_055956
up seq anno feature ids: VSP_054303

9606:KAT2A
gene id: 9606:KAT2A
uniprot id: Q92830
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: Secondary Structure
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: 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 Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolised protein acetyltransferase activity.
up seq anno comments: Bromo
up seq anno comments: Catalytically dead mutant; abolished acyltransferase activity; when associated with A-575.
up seq anno comments: Catalytically dead mutant; abolished acyltransferase activity; when associated with A-615.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Histone acetyltransferase KAT2A
up seq anno comments: In isoform 2.
up seq anno comments: Mimics acetylation; reduced ability to acetylate and inhibit PPARGC1A. Strongly reduced ability to acetylate and inhibit PPARGC1A; when associated with A-307 and A-735.
up seq anno comments: N-acetylalanine
up seq anno comments: N-acetyltransferase
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: Proton donor/acceptor
up seq anno comments: Reduced ability to acetylate and inhibit PPARGC1A.
up seq anno comments: Reduced histone succinylation without affecting histone acetylation. Reduced gene expression.
up seq anno comments: Removed
up seq anno comments: Slightly reduced ability to acetylate and inhibit PPARGC1A. Strongly reduced ability to acetylate and inhibit PPARGC1A; when associated with A-307 and Q-549.
up seq anno comments: Slightly reduced ability to acetylate and inhibit PPARGC1A. Strongly reduced ability to acetylate and inhibit PPARGC1A; when associated with Q-549 and A-735.
up seq anno feature ids: PRO_0000211202
up seq anno feature ids: VSP_000556

9606:SLC17A2
gene id: 9606:SLC17A2
uniprot id: A0A024QZY2
uniprot id: O00624
up 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 labels: Chain
up seq anno labels: Domain Extent
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: In isoform 3.
up seq anno comments: MFS
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Sodium-dependent phosphate transport protein 3
up seq anno feature ids: PRO_0000220940
up seq anno feature ids: VSP_020638
up seq anno feature ids: VSP_054712

9606:MTR
gene id: 9606:MTR
uniprot id: A0A6Q8PGK3
uniprot id: Q99707
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: Secondary Structure
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: 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: AdoMet activation
up seq anno comments: B12-binding
up seq anno comments: B12-binding N-terminal
up seq anno comments: Decreases binding to MTRR; when associated with E-963.
up seq anno comments: Decreases binding to MTRR; when associated with N-1071.
up seq anno comments: Hcy-binding
up seq anno comments: In HMAG.
up seq anno comments: In isoform 2.
up seq anno comments: Methionine synthase
up seq anno comments: Phosphothreonine
up seq anno comments: Pterin-binding
up seq anno comments: axial binding residue
up seq anno feature ids: PRO_0000204530
up seq anno feature ids: VAR_004326
up seq anno feature ids: VAR_004327
up seq anno feature ids: VAR_004328
up seq anno feature ids: VAR_004329
up seq anno feature ids: VAR_004330
up seq anno feature ids: VAR_004331
up seq anno feature ids: VAR_050033
up seq anno feature ids: VAR_061338
up seq anno feature ids: VSP_057283

9606:SURF6
gene id: 9606:SURF6
uniprot id: O75683
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Basic and acidic residues
up seq anno comments: Basic residues
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:C19orf18
gene id: 9606:C19orf18
uniprot id: Q8NEA5
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
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: Helical
up seq anno comments: Uncharacterized protein C19orf18
up seq anno feature ids: PRO_0000019567
up seq anno feature ids: VAR_050909

9606:PPP6R1
gene id: 9606:PPP6R1
uniprot id: Q9UPN7
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: Modified Residue
up seq anno comments: Acidic residues
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: Serine/threonine-protein phosphatase 6 regulatory subunit 1
up seq anno feature ids: PRO_0000046096

9606:N4BP1
gene id: 9606:N4BP1
uniprot id: O75113
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 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 comments: Abolihsed ability to degrade HIV-1 mRNAs.
up seq anno comments: Abolished ability to interact with ubiquitin.
up seq anno comments: Abolished cleavage by MALT1.
up seq anno comments: KH-like
up seq anno comments: NEDD4-binding protein 1
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: RNase NYN
up seq anno feature ids: PRO_0000096680

9606:LCLAT1
gene id: 9606:LCLAT1
uniprot id: B4DM26
uniprot id: B4DYR5
uniprot id: Q6UWP7
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 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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Abolishes LPIAT activity. No effect on LPGAT activity.
up seq anno comments: Abolishes LPIAT and LPGAT activities.
up seq anno comments: Acyltransf_C
up seq anno comments: Does not increase enzyme activity.
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: Lysocardiolipin acyltransferase 1
up seq anno comments: N6-acetyllysine
up seq anno comments: PlsC
up seq anno feature ids: PRO_0000291577
up seq anno feature ids: VAR_032830
up seq anno feature ids: VSP_026181
up seq anno feature ids: VSP_026182
up seq anno feature ids: VSP_044307

9606:HHIPL1
gene id: 9606:HHIPL1
uniprot id: F1T0G3
uniprot id: Q96JK4
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: HHIP-like protein 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 comments: SRCR
up seq anno feature ids: PRO_0000314962
up seq anno feature ids: PRO_5003270892
up seq anno feature ids: VAR_060163
up seq anno feature ids: VSP_030455
up seq anno feature ids: VSP_030456

9606:CRACR2B
gene id: 9606:CRACR2B
uniprot id: Q8N4Y2
up 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 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: EF-hand 1
up seq anno comments: EF-hand 2
up seq anno comments: EF-hand calcium-binding domain-containing protein 4A
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_0000283044
up seq anno feature ids: VAR_031479
up seq anno feature ids: VAR_031480
up seq anno feature ids: VAR_031481
up seq anno feature ids: VAR_031482
up seq anno feature ids: VSP_024290
up seq anno feature ids: VSP_024291
up seq anno feature ids: VSP_024292
up seq anno feature ids: VSP_024293
up seq anno feature ids: VSP_039545

9606:ELOVL4
gene id: 9606:ELOVL4
uniprot id: Q9GZR5
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Di-lysine motif
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:PLEKHA7
gene id: 9606:PLEKHA7
uniprot id: E9PKC0
uniprot id: Q6IQ23
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: 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: 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: 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 comments: Phosphothreonine
up seq anno comments: Pleckstrin homology domain-containing family A member 7
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: WW
up seq anno comments: WW 1
up seq anno comments: WW 2
up seq anno feature ids: PRO_0000287692
up seq anno feature ids: VAR_032346
up seq anno feature ids: VAR_032347
up seq anno feature ids: VAR_032348
up seq anno feature ids: VAR_032349
up seq anno feature ids: VAR_061517
up seq anno feature ids: VSP_025592
up seq anno feature ids: VSP_039543

9606:PLAGL1
gene id: 9606:PLAGL1
uniprot id: A1YLA1
uniprot id: A1YLA2
uniprot id: Q9UM63
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 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: 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: C2H2-type 7
up seq anno comments: In isoform 2.
up seq anno comments: Zinc finger protein PLAGL1
up seq anno feature ids: PRO_0000047222
up seq anno feature ids: VAR_052729
up seq anno feature ids: VSP_028123

9606:PXDN
gene id: 9606:PXDN
uniprot id: Q92626
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: 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: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
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: Does not affect protein homooligomerization. Loss of protein homooligomerization; when associated with S-1315 and S-1316.
up seq anno comments: Does not affect protein homooligomerization. Loss of protein homooligomerization; when associated with S-1315 and S-1319.
up seq anno comments: Does not affect the proteolytic processing.
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 ASGD7.
up seq anno comments: In isoform 2.
up seq anno comments: Interchain (with C-1315); in homotrimer
up seq anno comments: Interchain (with C-736); in homotrimer
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: LRRCT
up seq anno comments: LRRNT
up seq anno comments: Loss of bromide oxidation. Loss of tubulogenesis. Does not induce angiogenesis.
up seq anno comments: Loss of peroxidase activity. Does not affect oligomerization. Loss of peroxidase activity; when associated with E-823. Does not support the formation of collagen IV cross-links; when associated with W-823. Reduces the proteolytic processing; when associated with W-823. Loss of collagen IV cross-link; when associated with W-823.
up seq anno comments: Loss of peroxidase activity. Does not affect oligomerization. Loss of peroxidase activity; when associated with E-826. Does not support the formation of collagen IV cross-links; when associated with E-826. Reduces the proteolytic processing; when associated with E-826. Loss of collagen IV cross-link; when associated with E-826.
up seq anno comments: Loss of protein homooligomerization. Loss of protein homooligomerization; when associated with S-1315. Does not affect peroxidase activity; when associated with S-1315. Retains the ability to support the collagen IV cross-links; when associated with S-1315. Slightly reduces proteolysis; when associated with S-1315.
up seq anno comments: Loss of protein homooligomerization. Loss of protein homooligomerization; when associated with S-1316 and S-1319. Loss of protein homooligomerization; when associated with S-736. Does not affect peroxydase activity; when associated with S-736. Affects cell surface location; when associated with S-736. Slightly reduces proteolysis; when associated with S-736.
up seq anno comments: Loss of proteolytic cleavage. Decreases the formation of sulfilimine cross-links in collagen IV. Reduces the proteolytic processing. Affects collagen IV cross-linking.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: PXDN active fragment
up seq anno comments: Peroxidasin homolog
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: VWFC
up seq anno comments: axial binding residue
up seq anno comments: covalent
up seq anno feature ids: PRO_0000319619
up seq anno feature ids: PRO_0000455175
up seq anno feature ids: VAR_039048
up seq anno feature ids: VAR_050487
up seq anno feature ids: VAR_071389
up seq anno feature ids: VSP_031516
up seq anno feature ids: VSP_031517

9606:TYW5
gene id: 9606:TYW5
uniprot id: A2RUC4
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: 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 Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes enzyme activity and ability to bind tRNA.
up seq anno comments: In isoform 2.
up seq anno comments: JmjC
up seq anno comments: tRNA wybutosine-synthesizing protein 5
up seq anno feature ids: PRO_0000309274
up seq anno feature ids: VAR_036926
up seq anno feature ids: VSP_029106

9606:TSEN54
gene id: 9606:TSEN54
uniprot id: Q7Z6J9
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Found in familial late-onset hereditary ataxia; unknown pathological significance.
up seq anno comments: In PCH2A and PCH4.
up seq anno comments: In PCH2A.
up seq anno comments: In PCH4.
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylmethionine
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: tRNA-splicing endonuclease subunit Sen54
up seq anno feature ids: PRO_0000194029
up seq anno feature ids: VAR_019459
up seq anno feature ids: VAR_019461
up seq anno feature ids: VAR_019462
up seq anno feature ids: VAR_019463
up seq anno feature ids: VAR_054812
up seq anno feature ids: VAR_054813
up seq anno feature ids: VAR_057721
up seq anno feature ids: VAR_057722
up seq anno feature ids: VAR_073350
up seq anno feature ids: VAR_073351
up seq anno feature ids: VSP_010988
up seq anno feature ids: VSP_010989

9606:NMU
gene id: 9606:NMU
uniprot id: A0A0B4J202
uniprot id: A0A250SH36
uniprot id: E9PDJ7
uniprot id: P48645
uniprot id: Q86WB6
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 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: Peptide
up seq anno labels: Propeptide
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Asparagine amide
up seq anno comments: Methionine sulfoxide; partial
up seq anno comments: NMU
up seq anno comments: Neuromedin precursor-related peptide 33
up seq anno comments: Neuromedin precursor-related peptide 36
up seq anno comments: Neuromedin-U-25
up seq anno feature ids: PRO_0000019772
up seq anno feature ids: PRO_0000019773
up seq anno feature ids: PRO_0000019774
up seq anno feature ids: PRO_0000445765
up seq anno feature ids: PRO_0000445766
up seq anno feature ids: PRO_5002105570
up seq anno feature ids: PRO_5003244990
up seq anno feature ids: PRO_5014281889
up seq anno feature ids: VAR_053538
up seq anno feature ids: VAR_053539

9606:KLK10
gene id: 9606:KLK10
uniprot id: O43240
up 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: 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: 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: Charge relay system
up seq anno comments: Kallikrein-10
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Peptidase S1
up seq anno feature ids: PRO_0000027953
up seq anno feature ids: VAR_027979
up seq anno feature ids: VAR_027980

9606:TMEM216
gene id: 9606:TMEM216
uniprot id: J3QT25
uniprot id: Q9P0N5
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 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 JBTS2 and MKS2.
up seq anno comments: In JBTS2.
up seq anno comments: In MKS2.
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 2.
up seq anno comments: Transmembrane protein 216
up seq anno feature ids: PRO_0000318955
up seq anno feature ids: VAR_063388
up seq anno feature ids: VAR_064028
up seq anno feature ids: VAR_064029
up seq anno feature ids: VAR_064030
up seq anno feature ids: VAR_064031
up seq anno feature ids: VAR_068170
up seq anno feature ids: VSP_040295
up seq anno feature ids: VSP_040296

9606:RALGDS
gene id: 9606:RALGDS
uniprot id: Q12967
uniprot id: Q8N4Y1
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: Secondary Structure
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: 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 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 and isoform 6.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: N-terminal Ras-GEF
up seq anno comments: Phosphotyrosine; by MET
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Ral guanine nucleotide dissociation stimulator
up seq anno comments: Ras-GEF
up seq anno comments: Ras-associating
up seq anno feature ids: PRO_0000068877
up seq anno feature ids: VAR_035822
up seq anno feature ids: VSP_035301
up seq anno feature ids: VSP_043659
up seq anno feature ids: VSP_055215
up seq anno feature ids: VSP_055216
up seq anno feature ids: VSP_055217

9606:ZNF8
gene id: 9606:ZNF8
uniprot id: B3KS94
uniprot id: P17098
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: 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: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: KRAB
up seq anno comments: Polar residues
up seq anno comments: Zinc finger protein 8
up seq anno feature ids: PRO_0000047331

9606:AATF
gene id: 9606:AATF
uniprot id: A0A7P0TAR0
uniprot id: Q9NY61
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 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: Sequence Conflict
up seq anno comments: AATF-Che1
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Protein AATF
up seq anno comments: Removed
up seq anno comments: TRAUB
up seq anno feature ids: PRO_0000056616

9606:CCL4L2
gene id: 9606:CCL4L2
uniprot id: Q8NHW4
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 labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: C-C motif chemokine 4-like
up seq anno comments: In isoform 10.
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: In isoform 9.
up seq anno feature ids: PRO_0000326234
up seq anno feature ids: VSP_032625
up seq anno feature ids: VSP_032626
up seq anno feature ids: VSP_032627
up seq anno feature ids: VSP_032628
up seq anno feature ids: VSP_032629
up seq anno feature ids: VSP_032630
up seq anno feature ids: VSP_032631
up seq anno feature ids: VSP_032632
up seq anno feature ids: VSP_032633

9606:DYRK1A
gene id: 9606:DYRK1A
uniprot id: A0A2R8Y6I6
uniprot id: Q13627
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: Secondary Structure
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: 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: Abolished protein kinase activity.
up seq anno comments: Basic residues
up seq anno comments: Bipartite nuclear localization signal
up seq anno comments: Dual specificity tyrosine-phosphorylation-regulated kinase 1A
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: Mildly reduces kinase activity. Does not abolish autophosphorylation on tyrosine residues.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by autocatalysis
up seq anno comments: Phosphothreonine; by autocatalysis
up seq anno comments: Phosphotyrosine
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 feature ids: PRO_0000085931
up seq anno feature ids: VAR_009395
up seq anno feature ids: VAR_009396
up seq anno feature ids: VAR_040453
up seq anno feature ids: VSP_004917
up seq anno feature ids: VSP_004918
up seq anno feature ids: VSP_004919
up seq anno feature ids: VSP_004920
up seq anno feature ids: VSP_004921
up seq anno feature ids: VSP_004922
up seq anno feature ids: VSP_004923

9606:ATP6V1F
gene id: 9606:ATP6V1F
uniprot id: Q16864
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: Secondary Structure
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: V-type proton ATPase subunit F
up seq anno feature ids: PRO_0000144799
up seq anno feature ids: VAR_048348
up seq anno feature ids: VSP_045952

9606:MYOM2
gene id: 9606:MYOM2
uniprot id: P54296
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 labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
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: 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: Myomesin-2
up seq anno feature ids: PRO_0000072686
up seq anno feature ids: VAR_020083
up seq anno feature ids: VAR_020084
up seq anno feature ids: VAR_033613
up seq anno feature ids: VAR_033614
up seq anno feature ids: VAR_033615
up seq anno feature ids: VAR_033616
up seq anno feature ids: VAR_033617
up seq anno feature ids: VAR_033618
up seq anno feature ids: VAR_033619
up seq anno feature ids: VAR_054501
up seq anno feature ids: VAR_061320

9606:IQCJ
gene id: 9606:IQCJ
uniprot id: Q1A5X6
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Splice Variant
up seq anno comments: IQ
up seq anno comments: IQ domain-containing protein J
up seq anno comments: In isoform IQCJ-2.
up seq anno comments: In isoform IQCJ-3.
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000315661
up seq anno feature ids: VSP_030597
up seq anno feature ids: VSP_043259

9606:C1orf226
gene id: 9606:C1orf226
uniprot id: A1L170
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
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:ODF2
gene id: 9606:ODF2
uniprot id: A0A024R8A4
uniprot id: A0A024R8A5
uniprot id: A0A8J8Z1C3
uniprot id: B3KSD5
uniprot id: B4DUU0
uniprot id: B4DX03
uniprot id: B4DX85
uniprot id: Q5BJF6
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic residues
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 10.
up seq anno comments: In isoform 2, isoform 3, isoform 5 and isoform 8.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3, isoform 4 and isoform 9.
up seq anno comments: In isoform 5, isoform 6, isoform 7, isoform 8, isoform 9 and isoform 10.
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: Outer dense fiber protein 2
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by TSSK4
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000299455
up seq anno feature ids: VAR_034821
up seq anno feature ids: VSP_027665
up seq anno feature ids: VSP_027666
up seq anno feature ids: VSP_027667
up seq anno feature ids: VSP_027668
up seq anno feature ids: VSP_027669
up seq anno feature ids: VSP_042070
up seq anno feature ids: VSP_042071
up seq anno feature ids: VSP_042072
up seq anno feature ids: VSP_044946

9606:MAML2
gene id: 9606:MAML2
uniprot id: Q8IZL2
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Mastermind-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_0000129495
up seq anno feature ids: VAR_063127

9606:RER1
gene id: 9606:RER1
uniprot id: O15258
uniprot id: Q5T094
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 labels: Chain
up seq anno labels: Initiator Methionine
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-acetylserine
up seq anno comments: Phosphoserine
up seq anno comments: Protein RER1
up seq anno comments: Removed
up seq anno feature ids: PRO_0000207589

9606:FOXN3
gene id: 9606:FOXN3
uniprot id: A0A024R6I1
uniprot id: O00409
up 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 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: 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: Fork-head
up seq anno comments: Forkhead box protein N3
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000091869
up seq anno feature ids: VAR_049163
up seq anno feature ids: VSP_001551

9606:SERPINB7
gene id: 9606:SERPINB7
uniprot id: A8K3Q8
uniprot id: O75635
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 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: Phosphoserine
up seq anno comments: SERPIN
up seq anno comments: Serpin B7
up seq anno feature ids: PRO_0000094108
up seq anno feature ids: VAR_034512
up seq anno feature ids: VSP_044711

9606:OR4A5
gene id: 9606:OR4A5
uniprot id: A0A126GWJ2
uniprot id: Q8NH83
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 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_RECEP_F1_2
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 4A5
up seq anno feature ids: PRO_0000150524
up seq anno feature ids: VAR_031741
up seq anno feature ids: VAR_062033
up seq anno feature ids: VAR_062034

9606:ACTR3C
gene id: 9606:ACTR3C
uniprot id: Q9C0K3
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Actin-related protein 3C
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000324333
up seq anno feature ids: VSP_032218

9606:TYMP
gene id: 9606:TYMP
uniprot id: B2RBL3
uniprot id: E5KRG5
uniprot id: P19971
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: Secondary Structure
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: Modified Residue
up seq anno labels: Mutagenesis 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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes catalytic activity.
up seq anno comments: In MTDPS1.
up seq anno comments: In isoform 2.
up seq anno comments: PYNP_C
up seq anno comments: Phosphothreonine
up seq anno comments: R-A-L-X-X-A-L-V-L
up seq anno comments: R-V-A-A-A-L-X(5,6)-L-G-R
up seq anno comments: Reduced catalytic activity.
up seq anno comments: Thymidine phosphorylase
up seq anno feature ids: PRO_0000035874
up seq anno feature ids: PRO_0000035875
up seq anno feature ids: VAR_007643
up seq anno feature ids: VAR_007644
up seq anno feature ids: VAR_007645
up seq anno feature ids: VAR_007646
up seq anno feature ids: VAR_007647
up seq anno feature ids: VAR_007648
up seq anno feature ids: VAR_016777
up seq anno feature ids: VSP_045556

9606:CMTM7
gene id: 9606:CMTM7
uniprot id: F8WDZ3
uniprot id: Q96FZ5
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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: CKLF-like MARVEL transmembrane domain-containing protein 7
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: MARVEL
up seq anno feature ids: PRO_0000186110
up seq anno feature ids: VSP_042566

9606:CACNA1F
gene id: 9606:CACNA1F
uniprot id: O60840
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: 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: 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: Acidic residues
up seq anno comments: Basic and acidic residues
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=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 AIED and CSNB2A.
up seq anno comments: In CSNB2A.
up seq anno comments: In CSNB2A; increases the number of mutant channels open at physiologic membrane potential and allows for persistent Ca(2+) entry due to reduced channel inactivation resulting in a gain-of-function defect.
up seq anno comments: In CSNB2A; 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 and isoform 6.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: Voltage-dependent L-type calcium channel subunit alpha-1F
up seq anno feature ids: PRO_0000053950
up seq anno feature ids: VAR_001504
up seq anno feature ids: VAR_001505
up seq anno feature ids: VAR_001506
up seq anno feature ids: VAR_001507
up seq anno feature ids: VAR_029376
up seq anno feature ids: VAR_030807
up seq anno feature ids: VAR_030808
up seq anno feature ids: VAR_030809
up seq anno feature ids: VAR_030810
up seq anno feature ids: VAR_030811
up seq anno feature ids: VAR_030812
up seq anno feature ids: VAR_030813
up seq anno feature ids: VAR_030814
up seq anno feature ids: VAR_030815
up seq anno feature ids: VAR_030816
up seq anno feature ids: VAR_030817
up seq anno feature ids: VAR_030818
up seq anno feature ids: VAR_030819

9606:ITGA11
gene id: 9606:ITGA11
uniprot id: B3KTN6
uniprot id: Q9UKX5
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: 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: Mutagenesis Site
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: 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: Integrin alpha-11
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No effect on RAB21-binding.
up seq anno comments: VWFA
up seq anno feature ids: PRO_0000016318
up seq anno feature ids: PRO_5002788440
up seq anno feature ids: VAR_009889
up seq anno feature ids: VAR_009890
up seq anno feature ids: VAR_009891
up seq anno feature ids: VAR_009892
up seq anno feature ids: VAR_009894
up seq anno feature ids: VAR_020038
up seq anno feature ids: VAR_020039
up seq anno feature ids: VSP_053416

9606:CXCR2
gene id: 9606:CXCR2
uniprot id: P25025
uniprot id: Q53PC4
up 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 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: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: C-X-C chemokine receptor type 2
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G_PROTEIN_RECEP_F1_2
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: Phosphoserine
up seq anno feature ids: PRO_0000069337
up seq anno feature ids: VAR_014679

9606:SLC35G5
gene id: 9606:SLC35G5
uniprot id: Q96KT7
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
up seq anno comments: EamA 1
up seq anno comments: EamA 2
up seq anno comments: Helical
up seq anno comments: Solute carrier family 35 member G5
up seq anno feature ids: PRO_0000269556
up seq anno feature ids: VAR_059579
up seq anno feature ids: VAR_059580

9606:FGD2
gene id: 9606:FGD2
uniprot id: Q7Z6J4
up 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: 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: 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: DH
up seq anno comments: FYVE, RhoGEF and PH domain-containing protein 2
up seq anno comments: FYVE-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: PH 1
up seq anno comments: PH 2
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000080942
up seq anno feature ids: VAR_021491
up seq anno feature ids: VSP_013065
up seq anno feature ids: VSP_013066
up seq anno feature ids: VSP_013067
up seq anno feature ids: VSP_013068
up seq anno feature ids: VSP_013070
up seq anno feature ids: VSP_013071
up seq anno feature ids: VSP_013072
up seq anno feature ids: VSP_038219

9606:LIPA
gene id: 9606:LIPA
uniprot id: A0A0A0MT32
uniprot id: P38571
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: Secondary Structure
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: Glycosylation Site
up seq anno labels: Helix
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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: AB hydrolase-1
up seq anno comments: Charge relay system
up seq anno comments: In CESD and WOD.
up seq anno comments: In CESD; significant loss of enzyme activity.
up seq anno comments: In isoform 2.
up seq anno comments: Lysosomal acid lipase/cholesteryl ester hydrolase
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No effect on enzyme activity.
up seq anno comments: Removed in mature form
up seq anno comments: Significant loss of enzyme activity.
up seq anno feature ids: PRO_0000017799
up seq anno feature ids: PRO_0000450225
up seq anno feature ids: VAR_004247
up seq anno feature ids: VAR_004248
up seq anno feature ids: VAR_004249
up seq anno feature ids: VAR_004250
up seq anno feature ids: VAR_026523
up seq anno feature ids: VAR_026524
up seq anno feature ids: VAR_049821
up seq anno feature ids: VSP_018596
up seq anno feature ids: VSP_018597

9606:ERC1
gene id: 9606:ERC1
uniprot id: G8JLD3
uniprot id: Q8IUD2
uniprot id: X6RLX0
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: ELKS/Rab6-interacting/CAST family member 1
up seq anno comments: FIP-RBD
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: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000097176
up seq anno feature ids: VAR_051304
up seq anno feature ids: VAR_051305
up seq anno feature ids: VSP_011450
up seq anno feature ids: VSP_011451
up seq anno feature ids: VSP_011452
up seq anno feature ids: VSP_011453
up seq anno feature ids: VSP_011454
up seq anno feature ids: VSP_011455

9606:ZNF304
gene id: 9606:ZNF304
uniprot id: E7EQD3
uniprot id: M0QZ59
uniprot id: Q2T9G7
uniprot id: Q2T9G8
uniprot id: Q9HCX3
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 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 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: KRAB
up seq anno comments: Zinc finger protein 304
up seq anno feature ids: PRO_0000047523
up seq anno feature ids: VAR_019979
up seq anno feature ids: VAR_033563

9606:SLC10A4
gene id: 9606:SLC10A4
uniprot id: Q96EP9
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: 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: N-linked (GlcNAc...) asparagine
up seq anno comments: Sodium/bile acid cotransporter 4
up seq anno feature ids: PRO_0000263742

9606:SLC26A2
gene id: 9606:SLC26A2
uniprot id: P50443
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 labels: Chain
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: Transmembrane
up seq anno comments: Helical
up seq anno comments: In ACG1B.
up seq anno comments: In AO2 and EDM4.
up seq anno comments: In AO2.
up seq anno comments: In EDM4.
up seq anno comments: In diatrophic dysplasia; broad bone-platyspondylic variant.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: STAS
up seq anno comments: Sulfate transporter
up seq anno feature ids: PRO_0000080158
up seq anno feature ids: VAR_007434
up seq anno feature ids: VAR_007435
up seq anno feature ids: VAR_007436
up seq anno feature ids: VAR_007437
up seq anno feature ids: VAR_007438
up seq anno feature ids: VAR_007439
up seq anno feature ids: VAR_018654
up seq anno feature ids: VAR_018655
up seq anno feature ids: VAR_020402
up seq anno feature ids: VAR_058415
up seq anno feature ids: VAR_066835

9606:SYNJ1
gene id: 9606:SYNJ1
uniprot id: A0A0D9SGJ6
uniprot id: B9EGN3
uniprot id: C9JFZ1
uniprot id: J3KQV8
uniprot id: O43426
uniprot id: Q05CZ1
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: Secondary Structure
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: 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: 1
up seq anno comments: 2
up seq anno comments: 3
up seq anno comments: In DEE53; decreased inositol phosphate phosphatase activity.
up seq anno comments: In PARK20.
up seq anno comments: In PARK20; impairs the phosphatase activity of the enzyme toward phosphatidylinositol-3-phosphate and phosphatidylinositol-4-phosphate.
up seq anno comments: In PARK20; unknown pathological significance; the patient also carries a heterozygous PINK1 truncating 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: Likely benign variant; no effect on inositol phosphate phosphatase activity.
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: Pro residues
up seq anno comments: RRM
up seq anno comments: SAC
up seq anno comments: Synaptojanin-1
up seq anno feature ids: PRO_0000209730
up seq anno feature ids: VAR_047308
up seq anno feature ids: VAR_047309
up seq anno feature ids: VAR_049603
up seq anno feature ids: VAR_070905
up seq anno feature ids: VAR_070906
up seq anno feature ids: VAR_078803
up seq anno feature ids: VAR_078804
up seq anno feature ids: VAR_078805
up seq anno feature ids: VAR_078806
up seq anno feature ids: VSP_002682
up seq anno feature ids: VSP_002683
up seq anno feature ids: VSP_035709
up seq anno feature ids: VSP_035710
up seq anno feature ids: VSP_035711
up seq anno feature ids: VSP_041578

9606:PPP1R9A
gene id: 9606:PPP1R9A
uniprot id: A4D1I0
uniprot id: B7ZLX4
uniprot id: Q9ULJ8
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: 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: 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: Basic and acidic residues
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.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: Neurabin-1
up seq anno comments: PDZ
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: SAM
up seq anno feature ids: PRO_0000071507
up seq anno feature ids: VAR_051746
up seq anno feature ids: VSP_005121
up seq anno feature ids: VSP_011139
up seq anno feature ids: VSP_044469
up seq anno feature ids: VSP_044470
up seq anno feature ids: VSP_044471
up seq anno feature ids: VSP_053808

9606:LRRC36
gene id: 9606:LRRC36
uniprot id: B7Z4G3
uniprot id: Q1X8D7
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 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: 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: 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:PELI1
gene id: 9606:PELI1
uniprot id: Q96FA3
up seq anno parent labels: Experimental Information
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: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno comments: E3 ubiquitin-protein ligase pellino homolog 1
up seq anno comments: FHA; atypical
up seq anno comments: Loss of ability to ubiquitinate RIPK3. Loss of interaction with RIPK1, IRAK1 and RIPK3.
up seq anno comments: Loss of ability to ubiquitinate RIPK3. No loss of interaction with RIPK3.
up seq anno feature ids: PRO_0000194172

9606:GGT5
gene id: 9606:GGT5
uniprot id: P36269
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: 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: 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: Glutathione hydrolase 5 heavy chain
up seq anno comments: Glutathione hydrolase 5 light chain
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 comments: Nucleophile
up seq anno feature ids: PRO_0000011072
up seq anno feature ids: PRO_0000011073
up seq anno feature ids: VAR_024455
up seq anno feature ids: VAR_028006
up seq anno feature ids: VAR_028007
up seq anno feature ids: VAR_028008
up seq anno feature ids: VSP_008146
up seq anno feature ids: VSP_043470

9606:SLC25A25
gene id: 9606:SLC25A25
uniprot id: Q6KCM7
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: Site
up seq anno labels: Binding 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 labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Calcium-binding mitochondrial carrier protein SCaMC-2
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: 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: Mitochondrial intermembrane
up seq anno comments: Mitochondrial matrix
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: VSP_031067
up seq anno feature ids: VSP_031068
up seq anno feature ids: VSP_031069
up seq anno feature ids: VSP_031070

9606:TRAPPC2
gene id: 9606:TRAPPC2
uniprot id: P0DI81
uniprot id: P0DI82
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 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 SEDT; loss of interaction with ENO1, PITX1 and SF1.
up seq anno comments: In SEDT; loss-of-function mutation.
up seq anno comments: In SEDT; mild form; loss of interaction with ENO1, PITX1 and SF1.
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: Trafficking protein particle complex subunit 2
up seq anno comments: Trafficking protein particle complex subunit 2B
up seq anno feature ids: PRO_0000211566
up seq anno feature ids: PRO_0000412454
up seq anno feature ids: VAR_012358
up seq anno feature ids: VAR_012359
up seq anno feature ids: VAR_012360
up seq anno feature ids: VAR_012361
up seq anno feature ids: VSP_006040
up seq anno feature ids: VSP_041681
up seq anno feature ids: VSP_041682

9606:RIDA
gene id: 9606:RIDA
uniprot id: P52758
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: 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 labels: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 2-iminobutanoate/2-iminopropanoate deaminase
up seq anno comments: N-acetylserine
up seq anno comments: N6-succinyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000170308

9606:GLCE
gene id: 9606:GLCE
uniprot id: O94923
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: Secondary Structure
up seq anno parent labels: 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: Almost abolishes enzyme activity.
up seq anno comments: Cytoplasmic
up seq anno comments: D-glucuronyl C5-epimerase
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: Loss of enzyme activity.
up seq anno comments: Lumenal
up seq anno comments: Mildly decreased enzyme activity.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Reduces enzyme activity by about 30%.
up seq anno comments: Reduces enzyme activity by about 60%.
up seq anno comments: Reduces enzyme activity by about 75%.
up seq anno feature ids: PRO_0000192645
up seq anno feature ids: VAR_055837
up seq anno feature ids: VAR_057958

9606:CEP164
gene id: 9606:CEP164
uniprot id: Q9UPV0
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: 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: 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: Basic and acidic residues
up seq anno comments: Centrosomal protein of 164 kDa
up seq anno comments: In NPHP15.
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by ATR and ATM
up seq anno comments: Polar residues
up seq anno comments: Prevents phosphorylation.
up seq anno comments: Pro residues
up seq anno comments: WW
up seq anno feature ids: PRO_0000312494
up seq anno feature ids: VAR_037511
up seq anno feature ids: VAR_037512
up seq anno feature ids: VAR_037513
up seq anno feature ids: VAR_068503
up seq anno feature ids: VAR_068504
up seq anno feature ids: VSP_029843
up seq anno feature ids: VSP_029844

9606:NPY5R
gene id: 9606:NPY5R
uniprot id: Q15761
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: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Lipid Binding
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: Neuropeptide Y receptor type 5
up seq anno comments: S-palmitoyl cysteine
up seq anno feature ids: PRO_0000069939

9606:DUSP2
gene id: 9606:DUSP2
uniprot id: Q05923
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: Secondary Structure
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: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Dual specificity protein phosphatase 2
up seq anno comments: Loss of tyrosine phosphatase activity.
up seq anno comments: Phosphocysteine intermediate
up seq anno comments: Rhodanese
up seq anno comments: Tyrosine-protein phosphatase
up seq anno feature ids: PRO_0000094793

9606:OR52E6
gene id: 9606:OR52E6
uniprot id: A0A126GVK5
uniprot id: Q96RD3
up 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 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_RECEP_F1_2
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 52E6
up seq anno feature ids: PRO_0000150775
up seq anno feature ids: VAR_048066
up seq anno feature ids: VAR_048067
up seq anno feature ids: VAR_048068
up seq anno feature ids: VAR_048069
up seq anno feature ids: VAR_048070
up seq anno feature ids: VAR_048071
up seq anno feature ids: VAR_048072
up seq anno feature ids: VAR_048073

9606:IFT43
gene id: 9606:IFT43
uniprot id: A0A024R6A9
uniprot id: Q96FT9
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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 RP81; results in cilia shortening.
up seq anno comments: In SRTD18; patient cells show reduced amount of IFT43 protein and do not have cilia.
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: Intraflagellar transport protein 43 homolog
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000254041
up seq anno feature ids: VAR_056839
up seq anno feature ids: VAR_080629
up seq anno feature ids: VAR_080630
up seq anno feature ids: VAR_082868
up seq anno feature ids: VSP_021169
up seq anno feature ids: VSP_041319
up seq anno feature ids: VSP_047398

9606:PPP2R5E
gene id: 9606:PPP2R5E
uniprot id: Q16537
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 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: In isoform 2.
up seq anno comments: In isoform 3.
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: Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit epsilon isoform
up seq anno feature ids: PRO_0000071454
up seq anno feature ids: VSP_054588
up seq anno feature ids: VSP_055163

9606:CYP2C18
gene id: 9606:CYP2C18
uniprot id: P33260
uniprot id: Q7Z348
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: Site
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:AWAT1
gene id: 9606:AWAT1
uniprot id: Q58HT5
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Transmembrane
up seq anno comments: Acyl-CoA wax alcohol acyltransferase 1
up seq anno comments: Helical
up seq anno feature ids: PRO_0000249051

9606:SLC25A11
gene id: 9606:SLC25A11
uniprot id: Q02978
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 labels: Chain
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: Transmembrane
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 PGL6; loss of protein expression.
up seq anno comments: In isoform 2.
up seq anno comments: Mitochondrial 2-oxoglutarate/malate carrier protein
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-succinyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
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_0000090625
up seq anno feature ids: VAR_082966
up seq anno feature ids: VAR_082967
up seq anno feature ids: VAR_082968
up seq anno feature ids: VSP_046745

9606:ORMDL3
gene id: 9606:ORMDL3
uniprot id: A0A024R1W6
uniprot id: Q8N138
up 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 labels: Chain
up seq anno labels: Helix
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
up seq anno comments: In isoform 2.
up seq anno comments: Lumenal
up seq anno comments: ORM1-like protein 3
up seq anno feature ids: PRO_0000215639
up seq anno feature ids: VSP_016052

9606:CKAP2L
gene id: 9606:CKAP2L
uniprot id: Q8IYA6
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Abrogates sumoylation.
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoskeleton-associated protein 2-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); alternate
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: KEN box
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_0000324335
up seq anno feature ids: VAR_039735
up seq anno feature ids: VAR_039736
up seq anno feature ids: VAR_039737
up seq anno feature ids: VAR_039738
up seq anno feature ids: VAR_039739
up seq anno feature ids: VAR_039740
up seq anno feature ids: VAR_039741
up seq anno feature ids: VAR_039742
up seq anno feature ids: VAR_039743
up seq anno feature ids: VAR_039744
up seq anno feature ids: VSP_032219
up seq anno feature ids: VSP_032220
up seq anno feature ids: VSP_053717

9606:KCNK12
gene id: 9606:KCNK12
uniprot id: Q9HB15
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: Glycosylation Site
up seq anno labels: INTRAMEM
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: 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 12
up seq anno feature ids: PRO_0000101760

9606:ATOH7
gene id: 9606:ATOH7
uniprot id: F1T0H4
uniprot id: Q8N100
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 labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno comments: Abolishes heterodimerization with TCF3 isoform E47; no effect on nuclear localization.
up seq anno comments: BHLH
up seq anno comments: Does not affect DNA-binding activity or transcription activation.
up seq anno comments: Found in a sporadic case of optic nerve hypoplasia; unknown pathological significance; does not affect DNA-binding activity but reduces transcription activation.
up seq anno comments: Found in patients with bilateral optic nerve hypoplasia; unknown pathological significance; abolishes heterodimerization with TCF3 E47 isoform; reduces DNA-binding ability and abolishes transcriptional activation; no effect on nuclear localization.
up seq anno comments: In PHPVAR.
up seq anno comments: In PHPVAR; loss of function; polypeptide is stable, but does not bind DNA or activate transcription; does not restore retinal ganglion cell development in retinal explants from a mouse Atoh7 null mutant; abolishes heterodimerization with TCF3 E47 isoform; reduces DNA-binding ability and abolishes transcriptional activation; no effect on nuclear localization.
up seq anno comments: In PHPVAR; unknown pathological significance.
up seq anno comments: Loss of DNA-binding activity; loss of ability to restore retinal ganglion cell development in retinal explants from a mouse Atoh7 null mutant.
up seq anno comments: Transcription factor ATOH7
up seq anno comments: bHLH
up seq anno feature ids: PRO_0000292406
up seq anno feature ids: VAR_072398
up seq anno feature ids: VAR_072399
up seq anno feature ids: VAR_072400
up seq anno feature ids: VAR_072401
up seq anno feature ids: VAR_085727
up seq anno feature ids: VAR_085728
up seq anno feature ids: VAR_085729
up seq anno feature ids: VAR_085730
up seq anno feature ids: VAR_085731

9606:AMBP
gene id: 9606:AMBP
uniprot id: P02760
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: 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 Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Alpha-1-microglobulin
up seq anno comments: BPTI/Kunitz inhibitor 1
up seq anno comments: BPTI/Kunitz inhibitor 2
up seq anno comments: Impairs the reductase activity toward cytochrome c in the presence of NADPH; when associated with T-111 and T-137. Impairs the reductase activity toward oxidized collagen; when associated with T-111 and T-137.
up seq anno comments: Impairs the reductase activity toward cytochrome c in the presence of NADPH; when associated with T-111 and T-149. Impairs the reductase activity toward oxidized collagen; when associated with T-111 and T-149.
up seq anno comments: Impairs the reductase activity toward cytochrome c in the presence of NADPH; when associated with T-137 and T-149. Impairs the reductase activity toward oxidized collagen; when associated with T-137 and T-149.
up seq anno comments: Impairs the reductase activity toward cytochrome c independently of the electron donnor. Decreases the reductase activity toward methemoglobin. Decreases the reductase activity toward oxidized collagen.
up seq anno comments: Inter-alpha-trypsin inhibitor light chain
up seq anno comments: N-linked (GlcNAc...) (complex) asparagine
up seq anno comments: O-linked (GalNAc...) threonine
up seq anno comments: O-linked (Xyl...) (chondroitin sulfate) serine
up seq anno comments: Trypstatin
up seq anno comments: covalent
up seq anno feature ids: CAR_000172
up seq anno feature ids: PRO_0000017886
up seq anno feature ids: PRO_0000017887
up seq anno feature ids: PRO_0000318926

9606:GRAMD2B
gene id: 9606:GRAMD2B
uniprot id: Q96HH9
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 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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: GRAM
up seq anno comments: GRAM domain-containing protein 2B
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-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000087577
up seq anno feature ids: VSP_042883
up seq anno feature ids: VSP_042884
up seq anno feature ids: VSP_042885
up seq anno feature ids: VSP_044298
up seq anno feature ids: VSP_044299

9606:AHCTF1
gene id: 9606:AHCTF1
uniprot id: Q8WYP5
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: A.T hook
up seq anno comments: Basic and acidic residues
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 ELYS
up seq anno feature ids: PRO_0000246319
up seq anno feature ids: VAR_027037
up seq anno feature ids: VAR_027038
up seq anno feature ids: VSP_019844
up seq anno feature ids: VSP_042691

9606:CCL22
gene id: 9606:CCL22
uniprot id: O00626
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: C-C motif chemokine 22
up seq anno comments: MDC(3-69)
up seq anno comments: MDC(5-69)
up seq anno comments: MDC(7-69)
up seq anno feature ids: PRO_0000005224
up seq anno feature ids: PRO_0000005225
up seq anno feature ids: PRO_0000005226
up seq anno feature ids: PRO_0000005227
up seq anno feature ids: VAR_055117

9606:LZTR1
gene id: 9606:LZTR1
uniprot id: A0A384NL67
uniprot id: Q8N653
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 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: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: BTB
up seq anno comments: BTB 1
up seq anno comments: BTB 2
up seq anno comments: Has not effect on protein abundance; does not affect localization to Golgi apparatus; does not affect function in regulation of RAS-MAPK signaling.
up seq anno comments: In GLM; increased Ras signaling.
up seq anno comments: In GLM; increased Ras signaling; decreased ubiquitination of Ras.
up seq anno comments: In NS10 and GLM; increased RAS-MAPK signaling; decreased ubiquitination of Ras; decreased stability; no effect on localization to Golgi apparatus.
up seq anno comments: In NS10 and SWNTS2; increased RAS-MAPK signaling; decreased stability; no effect on localization to Golgi apparatus.
up seq anno comments: In NS10.
up seq anno comments: In NS10; increased RAS-MAPK signaling; decreased stability; no effect on localization to Golgi apparatus.
up seq anno comments: In NS10; increased Ras signaling.
up seq anno comments: In NS10; unknown pathological significance.
up seq anno comments: In NS2 and SWNTS2.
up seq anno comments: In NS2.
up seq anno comments: In NS2; decreased ubiquitination of Ras.
up seq anno comments: In NS2; unknown pathological significance.
up seq anno comments: In NS2; unknown pathological significance; no effect on RAS-MAPK signaling; decreased localization to Golgi apparatus; no effect on stability.
up seq anno comments: In NS2; unknown pathological significance; no effect on RAS-MAPK signaling; decreased stability.
up seq anno comments: In NS2; unknown pathological significance; no effect on RAS-MAPK signaling; no effect on stability.
up seq anno comments: In NS2; unknown pathological significance; no effect on RAS-MAPK signaling; strongly decreased stability.
up seq anno comments: In NS2; unknown pathological significance; when associated with W-170.
up seq anno comments: In NS2; when associated with T-205.
up seq anno comments: In SWNTS2.
up seq anno comments: In SWNTS2; decreased binding to Ras.
up seq anno comments: In SWNTS2; decreased interaction with CUL3; impaired subcellular location; decreased ubiquitination of Ras.
up seq anno comments: In SWNTS2; increased RAS-MAPK signaling.
up seq anno comments: In SWNTS2; increased Ras signaling.
up seq anno comments: In SWNTS2; increased Ras signaling; decreased binding to Ras.
up seq anno comments: In SWNTS2; increased Ras signaling; decreased interaction with CUL3; impaired subcellular location.
up seq anno comments: In SWNTS2; increased Ras signaling; decreased interaction with CUL3; impaired subcellular location; impaired subcellular location.
up seq anno comments: In SWNTS2; increased Ras signaling; impaired subcellular location.
up seq anno comments: In SWNTS2; unknown pathological significance.
up seq anno comments: In SWNTS2; unknown pathological significance; no effect on stability.
up seq anno comments: In SWNTS2; unknown pathological significance; no effect on stability; no effect on localization to Golgi apparatus.
up seq anno comments: In SWNTS2; unknown pathological significance; somatic mutation.
up seq anno comments: Increased RAS-MAPK signaling.
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: Leucine-zipper-like transcriptional regulator 1
up seq anno comments: N-acetylalanine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000119135
up seq anno feature ids: VAR_071145
up seq anno feature ids: VAR_071146
up seq anno feature ids: VAR_071147
up seq anno feature ids: VAR_071148
up seq anno feature ids: VAR_071149
up seq anno feature ids: VAR_071150
up seq anno feature ids: VAR_071151
up seq anno feature ids: VAR_075657
up seq anno feature ids: VAR_075658
up seq anno feature ids: VAR_075659
up seq anno feature ids: VAR_075660
up seq anno feature ids: VAR_075661
up seq anno feature ids: VAR_075662
up seq anno feature ids: VAR_075663
up seq anno feature ids: VAR_081292
up seq anno feature ids: VAR_081293
up seq anno feature ids: VAR_081294
up seq anno feature ids: VAR_081295

9606:S1PR5
gene id: 9606:S1PR5
uniprot id: Q9H228
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: 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: 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 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: S-palmitoyl cysteine
up seq anno comments: Sphingosine 1-phosphate receptor 5
up seq anno feature ids: PRO_0000069436
up seq anno feature ids: VAR_033466
up seq anno feature ids: VSP_013369
up seq anno feature ids: VSP_013370

9606:SPINK2
gene id: 9606:SPINK2
uniprot id: A0A024RD95
uniprot id: A0A087WTA9
uniprot id: D6RC51
uniprot id: D6RI10
uniprot id: P20155
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 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: Signal Peptide
up seq anno labels: Strand
up seq anno comments: Kazal-like
up seq anno comments: Loss of inhibitory activity towards trypsin.
up seq anno comments: No effect on inhibitory activity towards trypsin.
up seq anno comments: Pyrrolidone carboxylic acid
up seq anno comments: Reduces inhibitory activity towards trypsin.
up seq anno comments: Serine protease inhibitor Kazal-type 2
up seq anno feature ids: PRO_0000016561
up seq anno feature ids: PRO_5001533760
up seq anno feature ids: PRO_5001831900
up seq anno feature ids: PRO_5003087455
up seq anno feature ids: PRO_5003087590

9606:NKAIN4
gene id: 9606:NKAIN4
uniprot id: A6NNM2
uniprot id: B3KWY5
uniprot id: Q8IVV8
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: Sodium/potassium-transporting ATPase subunit beta-1-interacting protein
up seq anno comments: Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 4
up seq anno feature ids: PRO_0000079437
up seq anno feature ids: PRO_5002788463
up seq anno feature ids: VAR_037051
up seq anno feature ids: VAR_037052
up seq anno feature ids: VAR_037053
up seq anno feature ids: VAR_037054

9606:SMARCAL1
gene id: 9606:SMARCAL1
uniprot id: Q9NZC9
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: Secondary Structure
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: 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: DESH box
up seq anno comments: HARP 1
up seq anno comments: HARP 2
up seq anno comments: Helicase ATP-binding
up seq anno comments: Helicase C-terminal
up seq anno comments: In SIOD.
up seq anno comments: In SIOD; abolishes annealing helicase activity; no effect on specific binding to fork DNA; no effect on recruitment to sites of DNA damage.
up seq anno comments: In SIOD; impairs without abolishing annealing helicase activity; no effect on specific binding to fork DNA; no effect on recruitment to sites of DNA damage.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: Loss of interaction with RPA2 and impaired recruitment by the RPA complex to sites of DNA damage.
up seq anno comments: N-acetylserine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno comments: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1
up seq anno feature ids: PRO_0000074348
up seq anno feature ids: VAR_021363
up seq anno feature ids: VAR_021364
up seq anno feature ids: VAR_021366
up seq anno feature ids: VAR_021367
up seq anno feature ids: VAR_021368
up seq anno feature ids: VAR_021369
up seq anno feature ids: VAR_021370
up seq anno feature ids: VAR_021371
up seq anno feature ids: VAR_021372
up seq anno feature ids: VAR_021373
up seq anno feature ids: VAR_021374
up seq anno feature ids: VAR_021375
up seq anno feature ids: VAR_021376
up seq anno feature ids: VAR_021377
up seq anno feature ids: VAR_021378
up seq anno feature ids: VAR_021379
up seq anno feature ids: VAR_021380
up seq anno feature ids: VAR_021381
up seq anno feature ids: VAR_021382
up seq anno feature ids: VAR_036026
up seq anno feature ids: VAR_038370

9606:BRCC3
gene id: 9606:BRCC3
uniprot id: P46736
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: 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: 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 comments: Abolishes interaction with UIMC1 and SHMT2.
up seq anno comments: Abolishes localization to sites of DNA damage and interaction with ABRAXAS2; UIMC1; SHMT2; BABAM2 and BABAM1; when associated with R-23.
up seq anno comments: Abolishes localization to sites of DNA damage and interaction with ABRAXAS2; UIMC1; SHMT2; BARAM2 and BABAM1; when associated with R-27.
up seq anno comments: Abolishes metalloprotease activity and function in DNA repair.
up seq anno comments: In isoform 1 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: JAMM motif
up seq anno comments: Loss of deubiquitinase activity.
up seq anno comments: Lys-63-specific deubiquitinase BRCC36
up seq anno comments: MPN
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000213967
up seq anno feature ids: VAR_050097
up seq anno feature ids: VSP_003261
up seq anno feature ids: VSP_037257
up seq anno feature ids: VSP_037258
up seq anno feature ids: VSP_037259

9606:RSPH14
gene id: 9606:RSPH14
uniprot id: Q9UHP6
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
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: ARM 6
up seq anno comments: ARM 7
up seq anno comments: ARM 8
up seq anno comments: Radial spoke head 14 homolog
up seq anno feature ids: PRO_0000097511
up seq anno feature ids: VAR_015443

9606:MBD3L4
gene id: 9606:MBD3L4
uniprot id: A6NDZ8
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno comments: Putative methyl-CpG-binding domain protein 3-like 4
up seq anno feature ids: PRO_0000349234

9606:ZNF410
gene id: 9606:ZNF410
uniprot id: A0A024R691
uniprot id: Q53FM1
uniprot id: Q86VK4
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: 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: Non-terminal Residue
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: 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: 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 410
up seq anno feature ids: PRO_0000047571
up seq anno feature ids: VSP_008485
up seq anno feature ids: VSP_008486
up seq anno feature ids: VSP_008487
up seq anno feature ids: VSP_042424
up seq anno feature ids: VSP_043417
up seq anno feature ids: VSP_043418

9606:PTH2
gene id: 9606:PTH2
uniprot id: Q96A98
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Secondary Structure
up seq anno labels: Helix
up seq anno labels: Peptide
up seq anno labels: Propeptide
up seq anno labels: Signal Peptide
up seq anno comments: Tuberoinfundibular peptide of 39 residues
up seq anno feature ids: PRO_0000045942
up seq anno feature ids: PRO_0000045943

9606:KIF2C
gene id: 9606:KIF2C
uniprot id: A0A140VKF1
uniprot id: B7Z6Q6
uniprot id: B7Z7M6
uniprot id: Q99661
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: Secondary Structure
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: 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: 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: Alters interaction with MAPRE1 and association with microtubule growing ends; when associated with E-109 and E-111.
up seq anno comments: Alters interaction with MAPRE1 and association with microtubule growing ends; when associated with E-95 and E-109.
up seq anno comments: Alters interaction with MAPRE1 and association with microtubule growing ends; when associated with E-95 and E-111.
up seq anno comments: In isoform 2.
up seq anno comments: Kinesin motor
up seq anno comments: Kinesin-like protein KIF2C
up seq anno comments: Loss of interaction with MAPRE1 and association with microtubule growing ends.
up seq anno comments: Microtubule tip localization signal
up seq anno comments: N-acetylalanine
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by AURKB
up seq anno comments: Removed
up seq anno feature ids: PRO_0000125418
up seq anno feature ids: VAR_049683
up seq anno feature ids: VSP_002866

9606:ACTG1
gene id: 9606:ACTG1
uniprot id: P63261
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: 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: (Microbial infection) Isoglutamyl lysine isopeptide (Glu-Lys) (interchain with K-50); by Vibrio toxins RtxA and VgrG1
up seq anno comments: (Microbial infection) Isoglutamyl lysine isopeptide (Lys-Glu) (interchain with E-270); by Vibrio toxins RtxA and VgrG1
up seq anno comments: Actin, cytoplasmic 2
up seq anno comments: Actin, cytoplasmic 2, N-terminally processed
up seq anno comments: Found in a patient with isolated coloboma; decreased incorporation into F-actin; decreased interaction with cofilin; loss of interaction with TWF1, CAPZB and profilin.
up seq anno comments: In BRWS2.
up seq anno comments: In DFNA20.
up seq anno comments: In DFNA20; unknown pathological significance.
up seq anno comments: Methionine (R)-sulfoxide
up seq anno comments: N-acetylglutamate; in Actin, cytoplasmic 2, N-terminally processed; partial
up seq anno comments: N-acetylmethionine
up seq anno comments: N6-methyllysine
up seq anno comments: Removed; alternate
up seq anno comments: Tele-methylhistidine
up seq anno feature ids: PRO_0000000831
up seq anno feature ids: PRO_0000367100
up seq anno feature ids: VAR_032434
up seq anno feature ids: VAR_032435
up seq anno feature ids: VAR_032436
up seq anno feature ids: VAR_032437
up seq anno feature ids: VAR_032438
up seq anno feature ids: VAR_032439
up seq anno feature ids: VAR_048186
up seq anno feature ids: VAR_067814
up seq anno feature ids: VAR_067815
up seq anno feature ids: VAR_067816
up seq anno feature ids: VAR_067817
up seq anno feature ids: VAR_067818
up seq anno feature ids: VAR_067819
up seq anno feature ids: VAR_067824
up seq anno feature ids: VAR_067825
up seq anno feature ids: VAR_067826
up seq anno feature ids: VAR_079849
up seq anno feature ids: VAR_079878
up seq anno feature ids: VAR_079879

9606:FAM217B
gene id: 9606:FAM217B
uniprot id: B4E2D0
uniprot id: Q9NTX9
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 labels: Chain
up seq anno labels: Compositionally Biased 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: In a breast cancer sample; somatic mutation.
up seq anno comments: Polar residues
up seq anno comments: Protein FAM217B
up seq anno feature ids: PRO_0000079485
up seq anno feature ids: VAR_035691
up seq anno feature ids: VAR_050922

9606:GRM5
gene id: 9606:GRM5
uniprot id: A8K5P7
uniprot id: P41594
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: Secondary Structure
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: Helix
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
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: Decreased constitutive signaling activity.
up seq anno comments: Extracellular
up seq anno comments: G_PROTEIN_RECEP_F3_4
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 1.
up seq anno comments: In isoform 3.
up seq anno comments: Increased constitutive signaling activity.
up seq anno comments: Metabotropic glutamate receptor 5
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000012932
up seq anno feature ids: PRO_5002725515
up seq anno feature ids: VSP_002030
up seq anno feature ids: VSP_047710

9606:SNN
gene id: 9606:SNN
uniprot id: O75324
up 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 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: 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: Phosphoserine
up seq anno comments: Stannin
up seq anno feature ids: PRO_0000072014
up seq anno feature ids: VAR_018842
up seq anno feature ids: VAR_018843

9606:TIMM17A
gene id: 9606:TIMM17A
uniprot id: Q99595
up 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 labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
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:PFKFB3
gene id: 9606:PFKFB3
uniprot id: B7Z8A0
uniprot id: Q16875
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: Secondary Structure
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: 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: 20-fold decrease in Km for ATP and 3-fold decrease in Km for fructose-6 phsphate.
up seq anno comments: 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3
up seq anno comments: 6PF2K
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 activity.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by AMPK
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by PKC
up seq anno comments: Proton donor/acceptor
up seq anno comments: Tele-phosphohistidine intermediate
up seq anno feature ids: PRO_0000179968
up seq anno feature ids: VSP_004680
up seq anno feature ids: VSP_047165
up seq anno feature ids: VSP_054549

9606:NDUFS2
gene id: 9606:NDUFS2
uniprot id: B7Z792
uniprot id: O75306
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: Secondary Structure
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: 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: Complex1_49kDa
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: 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:WDR41
gene id: 9606:WDR41
uniprot id: A0A0S2Z5E0
uniprot id: Q9HAD4
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 labels: Chain
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: 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: No effect on interaction with SMCR8.
up seq anno comments: Reduces interaction with the C9ORF72-SMCR8 complex; when associated with R-445. No effect on interaction with SMCR8.
up seq anno comments: Reduces interaction with the C9ORF72-SMCR8 complex; when associated with R-449. No effect on interaction with SMCR8.
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 repeat-containing protein 41
up seq anno feature ids: PRO_0000051390
up seq anno feature ids: VAR_023777
up seq anno feature ids: VAR_031215
up seq anno feature ids: VAR_031216
up seq anno feature ids: VSP_054014

9606:FAM83H
gene id: 9606:FAM83H
uniprot id: Q6ZRV2
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Decreased interaction with CSNK1A1 and loss of function in keratin cytoskeleton organization.
up seq anno comments: In AI3A; mild form.
up seq anno comments: No effect on interaction with CSNK1A1 and function in keratin cytoskeleton organization.
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 FAM83H
up seq anno feature ids: PRO_0000324488
up seq anno feature ids: VAR_062189
up seq anno feature ids: VAR_073954

9606:TFAP2C
gene id: 9606:TFAP2C
uniprot id: Q92754
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 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: Splice Variant
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: Loss of interaction with WWOX; when associated with A-59.
up seq anno comments: Loss of interaction with WWOX; when associated with A-64.
up seq anno comments: PPxY motif
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PKA
up seq anno comments: Polar residues
up seq anno comments: Transcription factor AP-2 gamma
up seq anno feature ids: PRO_0000184803
up seq anno feature ids: VSP_056501

9606:DLX1
gene id: 9606:DLX1
uniprot id: P56177
uniprot id: X5D2F9
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 labels: Chain
up seq anno labels: DNA Binding
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 comments: Homeobox
up seq anno comments: Homeobox protein DLX-1
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000049020
up seq anno feature ids: VAR_028443
up seq anno feature ids: VSP_043589

9606:PSTPIP1
gene id: 9606:PSTPIP1
uniprot id: A0A0S2Z5P3
uniprot id: O43586
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: Secondary Structure
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 binding to MEFV. Cytoplasmic filaments are finer with fewer branches.
up seq anno comments: Decreases binding to MEFV.
up seq anno comments: F-BAR
up seq anno comments: In PAPAS.
up seq anno comments: In PAPAS; severely reduced binding with PTPN12; markedly increased binding to MEFV; accentuates IL1B secretion; increased induction of MEFV in response to retroviral infection.
up seq anno comments: In PAPAS; severely reduced binding with PTPN12; markedly increased binding to MEFV; accentuates IL1B secretion; no effect on filament formation; increased induction of MEFV in response to retroviral infection.
up seq anno comments: In isoform 2.
up seq anno comments: No effect on filament formation.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Proline-serine-threonine phosphatase-interacting protein 1
up seq anno comments: SH3
up seq anno feature ids: PRO_0000058539
up seq anno feature ids: VAR_023515
up seq anno feature ids: VAR_023516
up seq anno feature ids: VAR_023517
up seq anno feature ids: VAR_023518
up seq anno feature ids: VAR_023519
up seq anno feature ids: VAR_023520
up seq anno feature ids: VAR_023521
up seq anno feature ids: VAR_023522
up seq anno feature ids: VAR_023523
up seq anno feature ids: VAR_070635
up seq anno feature ids: VSP_015627

9606:FOXC1
gene id: 9606:FOXC1
uniprot id: Q12948
uniprot id: W6CJ52
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 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: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Decreased nuclear localization. Decreased DNA-binding activity. Decreased transcriptional activity.
up seq anno comments: Decreased nuclear localization. No effect on DNA-binding activity. Decreased transcriptional activity.
up seq anno comments: Decreased protein stability. Decreased transcriptional activity.
up seq anno comments: Decreased protein stability. No effect on transcriptional activity.
up seq anno comments: Fork-head
up seq anno comments: Forkhead box protein C1
up seq anno comments: In ASGD3 and RIEG3; decreased location at the nucleus; decreased transcription regulatory region DNA binding; decreased sequence-specific DNA binding transcription factor activity.
up seq anno comments: In ASGD3 and RIEG3; with glaucoma; decreased location at the nucleus; decreased transcription regulatory region DNA binding; decreased sequence-specific DNA binding transcription factor activity.
up seq anno comments: In ASGD3.
up seq anno comments: In ASGD3; no change in protein abundance; changed post-translational phosphorylation; changed protein structure; decreased location at the nucleus; novel location at the cytoplasm; increased protein aggregation, aggregation do not correspond to microtubule-dependent inclusion bodies; loss of transcription regulatory region DNA binding; loss of sequence-specific DNA binding transcription factor activity.
up seq anno comments: In ASGD3; no effect on protein abundance; increased protein stability; no effect on nuclear location; no effect on transcription regulatory region DNA binding; decreased sequence-specific DNA binding transcription factor activity.
up seq anno comments: In RIEG3 and ASGD3; no change in location at the nucleus; decreased transcription regulatory region DNA binding; decreased sequence-specific DNA binding transcription factor activity.
up seq anno comments: In RIEG3 and ASGD3; with glaucoma; decreased location at the nucleus; decreased transcription regulatory region DNA binding; decreased sequence-specific DNA binding transcription factor activity.
up seq anno comments: In RIEG3.
up seq anno comments: In RIEG3; decreased location at the nucleus; decreased transcription regulatory region DNA binding; decreased sequence-specific DNA binding transcription factor activity.
up seq anno comments: In RIEG3; decreased location at the nucleus; decreased transcription regulatory region DNA binding; decreased sequence-specific DNA binding transcription factor activity; no change on DNA bending activity.
up seq anno comments: In RIEG3; decreased protein abundance; decreased protein stability; decreased location at nucleus; loss of transcription regulatory region DNA binding; loss of sequence-specific DNA binding transcription factor activity.
up seq anno comments: In RIEG3; hypomorphic mutation; decreased protein abundance; decreased protein stability; changed post-translational phosphorylation; decreased location at the nucleus; novel location at the cytoplasm; decreased transcription regulatory region DNA binding; decreased sequence-specific DNA binding transcription factor activity.
up seq anno comments: In RIEG3; loss of protein stability.
up seq anno comments: In RIEG3; no change in location at the nucleus; decreased transcription regulatory region DNA binding; decreased sequence-specific DNA binding transcription factor activity.
up seq anno comments: In RIEG3; no change in location at the nucleus; no effect on transcription regulatory region DNA binding; decreased sequence-specific DNA binding transcription factor activity.
up seq anno comments: In RIEG3; no effect on protein abundance; changed post-translational phosphorylation; novel location at aggresome, aggregation correspond to microtubule-dependent inclusion bodies; decreased location at the nucleus; decreased transcription regulatory region DNA binding; decreased sequence-specific DNA binding transcription factor activity.
up seq anno comments: In RIEG3; no effect on protein abundance; increased protein stability; decreased location at nucleus; loss of transcription regulatory region DNA binding; loss of sequence-specific DNA binding transcription factor activity.
up seq anno comments: In RIEG3; no effect on protein abundance; no effect on protein stability; no effect on location at nucleus; no effect on transcription regulatory region DNA binding; decreased sequence-specific DNA binding transcription factor activity.
up seq anno comments: In RIEG3; unknown pathological significance.
up seq anno comments: Loss of protein stability.
up seq anno comments: No effect on protein abundance; no effect on protein stability; no effect on nuclear location; no effect on transcription regulatory region DNA binding; no effect on sequence-specific DNA binding transcription factor activity.
up seq anno comments: No effect on protein stability. No effect on transcriptional activity.
up seq anno comments: Nuclear localization signal 1 (NLS 1)
up seq anno comments: Nuclear localization signal 2 (NLS 2)
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Severely disrupts the protein function.
up seq anno feature ids: PRO_0000091806
up seq anno feature ids: VAR_007815
up seq anno feature ids: VAR_007816
up seq anno feature ids: VAR_007817
up seq anno feature ids: VAR_007944
up seq anno feature ids: VAR_007945
up seq anno feature ids: VAR_018150
up seq anno feature ids: VAR_058722
up seq anno feature ids: VAR_058723
up seq anno feature ids: VAR_058724
up seq anno feature ids: VAR_058725
up seq anno feature ids: VAR_058726
up seq anno feature ids: VAR_058727
up seq anno feature ids: VAR_058728
up seq anno feature ids: VAR_058729
up seq anno feature ids: VAR_058730
up seq anno feature ids: VAR_058731
up seq anno feature ids: VAR_058732
up seq anno feature ids: VAR_058733
up seq anno feature ids: VAR_058734
up seq anno feature ids: VAR_078501
up seq anno feature ids: VAR_078502
up seq anno feature ids: VAR_078503
up seq anno feature ids: VAR_078504
up seq anno feature ids: VAR_078505
up seq anno feature ids: VAR_078506
up seq anno feature ids: VAR_078507
up seq anno feature ids: VAR_078508

9606:TMEM52
gene id: 9606:TMEM52
uniprot id: Q8NDY8
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 labels: Chain
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: 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:DAB2IP
gene id: 9606:DAB2IP
uniprot id: Q5VWQ8
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 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: 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: Disabled homolog 2-interacting protein
up seq anno comments: Does not inhibit interaction with MAP3K5. Does not reduce GSK3B-induced beta-catenin transcription activity, TNF-alpha-induced apoptosis, ARF6-mediated TLR4-TIRAP-MyD88 signaling inhibition, Ras and NF-kappa-B activities and tumor development. Does not suppress tumor development; when associated with A-728.
up seq anno comments: Does not reduce interaction with 14-3-3 proteins.
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 3.
up seq anno comments: In isoform 5.
up seq anno comments: Inhibits phosphorylation and TNF-alpha-induced MAP3K5 dephosphorylation. Reduces interaction with 14-3-3 proteins, AKT1, a regulatory p85 subunit, MAP3K5, RIPK1, TRAF2 and TNF-alpha-induced MAP3K5-JNK signaling and apoptosis. Reduces RAS activity. Does not reduce GSK3B-induced beta catenin-mediated transcription activity. Does not reduce NF-kappa-B activity, cell invasion, epithelial-to-mesenchymal transition (EMT) and tumor development. Does not suppress tumor development; when associated with R-413.
up seq anno comments: PH
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by MAP3K5 and RIPK1
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Ras-GAP
up seq anno comments: Reduces interaction with KDR/VEGFR2. Does not inhibit interaction with MAP3K5.
up seq anno comments: Reduces interaction with a regulatory p85 subunit of the PI3K complex. Inhibits MAP3K5 active form increase, AKT1 active form decrease, PI3K-p85 complex activity inhibition and TNF-induced apoptosis.
up seq anno comments: Significantly reduces interaction with MAP3K5. Does not reduce interaction with KDR/VEGFR2.
up seq anno feature ids: PRO_0000252407
up seq anno feature ids: VAR_056858
up seq anno feature ids: VSP_020952
up seq anno feature ids: VSP_020953
up seq anno feature ids: VSP_020954
up seq anno feature ids: VSP_047361

9606:OTUB2
gene id: 9606:OTUB2
uniprot id: Q96DC9
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: Site
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: Abolishes deubiquitinase activity.
up seq anno comments: Affects its ability to cleave 'K63'-linked ubiquitin.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of function in vitro.
up seq anno comments: Nucleophile
up seq anno comments: OTU
up seq anno comments: Ubiquitin thioesterase OTUB2
up seq anno feature ids: PRO_0000221010
up seq anno feature ids: VSP_009465

9606:PPT2
gene id: 9606:PPT2
uniprot id: A0A1U9X8D2
uniprot id: Q9UMR5
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: Secondary Structure
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: 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: Abolishes enzymatic activity.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Lysosomal thioesterase PPT2
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No effect on enzymatic activity.
up seq anno comments: Nucleophile
up seq anno feature ids: PRO_0000025554
up seq anno feature ids: PRO_5010700917
up seq anno feature ids: VAR_027107
up seq anno feature ids: VAR_027108
up seq anno feature ids: VSP_005188
up seq anno feature ids: VSP_054027

9606:GJA8
gene id: 9606:GJA8
uniprot id: P48165
uniprot id: X5D7G1
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 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: INTRAMEM
up seq anno labels: Initiator Methionine
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: Basic and acidic residues
up seq anno comments: CNX
up seq anno comments: Connexin_CCC
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Gap junction alpha-8 protein
up seq anno comments: Helical
up seq anno comments: In CTRCT1.
up seq anno comments: In CTRCT1; cataract with microcornea.
up seq anno comments: In CTRCT1; decreased gap junction channel activity.
up seq anno comments: In CTRCT1; nuclear progressive cataract.
up seq anno comments: In CTRCT1; severely decreased gap junction channel activity; does not localize to the cell membrane.
up seq anno comments: In CTRCT1; unknown pathological significance.
up seq anno comments: In CTRCT1; unknown pathological significance; abolishes localization to the plasma membrane and function.
up seq anno comments: In CTRCT1; zonular pulverulent and nuclear progressive cataract.
up seq anno comments: In CTRCT1; zonular pulverulent.
up seq anno comments: Likely benign variant; does not affect gap junctions formation and gap junctional currents.
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno feature ids: PRO_0000057830
up seq anno feature ids: VAR_002005
up seq anno feature ids: VAR_037642
up seq anno feature ids: VAR_038797
up seq anno feature ids: VAR_038798
up seq anno feature ids: VAR_038799
up seq anno feature ids: VAR_038800
up seq anno feature ids: VAR_038801
up seq anno feature ids: VAR_069579
up seq anno feature ids: VAR_070021
up seq anno feature ids: VAR_070022
up seq anno feature ids: VAR_084810
up seq anno feature ids: VAR_084811
up seq anno feature ids: VAR_084812
up seq anno feature ids: VAR_084813
up seq anno feature ids: VAR_084814
up seq anno feature ids: VAR_084815
up seq anno feature ids: VAR_084816
up seq anno feature ids: VAR_086591
up seq anno feature ids: VAR_086592

9606:GPN2
gene id: 9606:GPN2
uniprot id: Q9H9Y4
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: 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: Motif
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: GPN-loop GTPase 2
up seq anno comments: Gly-Pro-Asn (GPN)-loop; involved in dimer interface
up seq anno comments: N-acetylalanine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000247829
up seq anno feature ids: VAR_027153
up seq anno feature ids: VAR_027154

9606:VNN1
gene id: 9606:VNN1
uniprot id: O95497
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: Secondary Structure
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: 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 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: Abolishes enzyme activity.
up seq anno comments: CN hydrolase
up seq anno comments: GPI-anchor amidated glycine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Nucleophile
up seq anno comments: Pantetheinase
up seq anno comments: Proton acceptor
up seq anno comments: Proton donor
up seq anno comments: Removed in mature form
up seq anno feature ids: PRO_0000019712
up seq anno feature ids: PRO_0000019713
up seq anno feature ids: VAR_023529
up seq anno feature ids: VAR_023967
up seq anno feature ids: VAR_023968
up seq anno feature ids: VAR_023969
up seq anno feature ids: VAR_023970
up seq anno feature ids: VAR_023971
up seq anno feature ids: VAR_023972
up seq anno feature ids: VAR_023973
up seq anno feature ids: VAR_023974

9606:PLA2G4B
gene id: 9606:PLA2G4B
uniprot id: P0C869
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: 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 labels: Splice Variant
up seq anno comments: Abolishes enzyme activity.
up seq anno comments: C2
up seq anno comments: Cytosolic phospholipase A2 beta
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.
up seq anno comments: In isoform 4.
up seq anno comments: No effect.
up seq anno comments: Nucleophile
up seq anno comments: PLA2c
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000247021
up seq anno feature ids: VAR_027047
up seq anno feature ids: VAR_027048
up seq anno feature ids: VAR_034365
up seq anno feature ids: VAR_060082
up seq anno feature ids: VSP_019871
up seq anno feature ids: VSP_039387
up seq anno feature ids: VSP_039388
up seq anno feature ids: VSP_039389
up seq anno feature ids: VSP_039390

9606:TTC23
gene id: 9606:TTC23
uniprot id: Q5W5X9
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 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: In isoform 3.
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: Tetratricopeptide repeat protein 23
up seq anno feature ids: PRO_0000289548
up seq anno feature ids: VSP_026017
up seq anno feature ids: VSP_026018

9606:NUMA1
gene id: 9606:NUMA1
uniprot id: A0A024R5M9
uniprot id: Q14980
uniprot id: Q3SYK8
uniprot id: Q4LE64
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: Secondary Structure
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: 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 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: 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: 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: 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: Tankyrase-binding domain
up seq anno feature ids: PRO_0000057998
up seq anno feature ids: VAR_031679
up seq anno feature ids: VAR_031680
up seq anno feature ids: VAR_031681
up seq anno feature ids: VAR_031682
up seq anno feature ids: VAR_031683
up seq anno feature ids: VAR_051248
up seq anno feature ids: VSP_012910
up seq anno feature ids: VSP_044378
up seq anno feature ids: VSP_044379
up seq anno feature ids: VSP_054146

9606:ACYP2
gene id: 9606:ACYP2
uniprot id: A0A140VJD7
uniprot id: P14621
uniprot id: U3KQL2
up seq anno parent labels: Modification
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: Domain Extent
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno comments: Acylphosphatase-2
up seq anno comments: Acylphosphatase-like
up seq anno comments: N-acetylserine
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000158542

9606:C2CD6
gene id: 9606:C2CD6
uniprot id: A0A140VJE2
uniprot id: Q53TS8
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: C2
up seq anno comments: Cation channel sperm-associated targeting subunit tau
up seq anno comments: In SPGF68; 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: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000076174
up seq anno feature ids: VAR_024769
up seq anno feature ids: VAR_035787
up seq anno feature ids: VAR_086977
up seq anno feature ids: VSP_061598
up seq anno feature ids: VSP_061599
up seq anno feature ids: VSP_061600
up seq anno feature ids: VSP_061601
up seq anno feature ids: VSP_061602

9606:ZNF81
gene id: 9606:ZNF81
uniprot id: P51508
up 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 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 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: Found in a family with intellectual disability; unknown pathological significance.
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 81
up seq anno feature ids: PRO_0000047395
up seq anno feature ids: VAR_019939
up seq anno feature ids: VAR_019940
up seq anno feature ids: VAR_019941
up seq anno feature ids: VAR_019942
up seq anno feature ids: VAR_019943
up seq anno feature ids: VAR_038806
up seq anno feature ids: VAR_052765

9606:SMR3B
gene id: 9606:SMR3B
uniprot id: P02814
uniprot id: Q504X8
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: Modified Residue
up seq anno labels: Peptide
up seq anno labels: Signal Peptide
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:BTK
gene id: 9606:BTK
uniprot id: Q06187
uniprot id: Q5JY90
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: Secondary Structure
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: 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: 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: Btk-type
up seq anno comments: CAV1-binding
up seq anno comments: Defective in mediating calcium response.
up seq anno comments: Found in patients with chronic lymphocytic leukemia; unknown pathological significance; results in resistance to ibrutinib therapy; results in a protein that is reversibly inhibited by ibrutinib; disrupts the covalent binding between the enzyme and ibrutinib.
up seq anno comments: In XLA.
up seq anno comments: In XLA; growth hormone deficiency.
up seq anno comments: In XLA; loss of activity.
up seq anno comments: In XLA; loss of phosphorylation of GTF2I.
up seq anno comments: In XLA; mild.
up seq anno comments: In XLA; mild; interferes with substrate binding and/or domain interactions.
up seq anno comments: In XLA; mild; interferes with substrate binding.
up seq anno comments: In XLA; moderate.
up seq anno comments: In XLA; moderate; interferes with substrate binding.
up seq anno comments: In XLA; no effect on phosphorylation of GTF2I.
up seq anno comments: In XLA; severe.
up seq anno comments: In XLA; severe; disturbs ATP-binding.
up seq anno comments: In XLA; severe; prevents activation due to absence of contact between the catalytic loop and the regulatory phosphorylated residue.
up seq anno comments: In a lung large cell carcinoma sample; somatic mutation; requires 2 nucleotide substitutions.
up seq anno comments: In isoform BTK-C.
up seq anno comments: Large decrease in binding by SH3BP5.
up seq anno comments: Loss of phosphorylation of GTF2I.
up seq anno comments: N-acetylalanine
up seq anno comments: No effect on phosphorylation of GTF2I.
up seq anno comments: PH
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PKC/PRKCB
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Phosphotyrosine; by LYN and SYK
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: SH2
up seq anno comments: SH3
up seq anno comments: Tyrosine-protein kinase BTK
up seq anno feature ids: PRO_0000088065
up seq anno feature ids: VAR_006216
up seq anno feature ids: VAR_006217
up seq anno feature ids: VAR_006218
up seq anno feature ids: VAR_006219
up seq anno feature ids: VAR_006220
up seq anno feature ids: VAR_006221
up seq anno feature ids: VAR_006222
up seq anno feature ids: VAR_006223
up seq anno feature ids: VAR_006224
up seq anno feature ids: VAR_006225
up seq anno feature ids: VAR_006226
up seq anno feature ids: VAR_006227
up seq anno feature ids: VAR_006228
up seq anno feature ids: VAR_006229
up seq anno feature ids: VAR_006230
up seq anno feature ids: VAR_006231
up seq anno feature ids: VAR_006232
up seq anno feature ids: VAR_006233

9606:LYG1
gene id: 9606:LYG1
uniprot id: Q8N1E2
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Signal Peptide
up seq anno comments: Lysozyme g-like protein 1
up seq anno feature ids: PRO_0000012023

9606:CBY3
gene id: 9606:CBY3
uniprot id: A6NI87
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 comments: Polar residues
up seq anno comments: Protein chibby homolog 3
up seq anno feature ids: PRO_0000340100

9606:PARD6G
gene id: 9606:PARD6G
uniprot id: Q9BYG4
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
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:ZNF227
gene id: 9606:ZNF227
uniprot id: B7Z6M2
uniprot id: Q658S5
uniprot id: Q86WZ6
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 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:MYH8
gene id: 9606:MYH8
uniprot id: P13535
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: 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: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: IQ
up seq anno comments: In CACOV and DA7.
up seq anno comments: Myosin N-terminal SH3-like
up seq anno comments: Myosin motor
up seq anno comments: Myosin-8
up seq anno comments: N6,N6,N6-trimethyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Pros-methylhistidine
up seq anno feature ids: PRO_0000123413
up seq anno feature ids: VAR_019810
up seq anno feature ids: VAR_030207
up seq anno feature ids: VAR_030208
up seq anno feature ids: VAR_030209
up seq anno feature ids: VAR_050202
up seq anno feature ids: VAR_050203
up seq anno feature ids: VAR_050204

9606:RAP1GDS1
gene id: 9606:RAP1GDS1
uniprot id: B3KNU0
uniprot id: P52306
uniprot id: Q6U7G8
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: Secondary Structure
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: 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
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: In isoform 2 and isoform 3.
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 6.
up seq anno comments: N6-acetyllysine
up seq anno comments: Nuclear export signal (NES)
up seq anno comments: Rap1 GTPase-GDP dissociation stimulator 1
up seq anno feature ids: PRO_0000056759
up seq anno feature ids: VAR_049158
up seq anno feature ids: VAR_069149
up seq anno feature ids: VSP_001658
up seq anno feature ids: VSP_043660
up seq anno feature ids: VSP_046214
up seq anno feature ids: VSP_047041

9606:SLC9A8
gene id: 9606:SLC9A8
uniprot id: B4DIX7
uniprot id: Q9Y2E8
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 labels: Chain
up seq anno labels: Domain Extent
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: Na_H_Exchanger
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Sodium/hydrogen exchanger 8
up seq anno feature ids: PRO_0000052365
up seq anno feature ids: VSP_037686

9606:TRIP13
gene id: 9606:TRIP13
uniprot id: Q15645
up 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: 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 MVA3; loss of protein expression; impairment of spindle assembly checkpoint.
up seq anno comments: In OOMD9; decreased protein level in patient cells.
up seq anno comments: In OOMD9; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylmethionine
up seq anno comments: Pachytene checkpoint protein 2 homolog
up seq anno feature ids: PRO_0000084782
up seq anno feature ids: VAR_079275
up seq anno feature ids: VAR_084761
up seq anno feature ids: VAR_084762
up seq anno feature ids: VAR_084763
up seq anno feature ids: VAR_084764
up seq anno feature ids: VAR_084765
up seq anno feature ids: VSP_016957

9606:OR13G1
gene id: 9606:OR13G1
uniprot id: Q8NGZ3
up 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 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 13G1
up seq anno feature ids: PRO_0000150739
up seq anno feature ids: VAR_048038
up seq anno feature ids: VAR_062067
up seq anno feature ids: VAR_062068
up seq anno feature ids: VAR_062069

9606:KPNA6
gene id: 9606:KPNA6
uniprot id: O60684
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 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: 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-7
up seq anno comments: N-acetylmethionine
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000120729

9606:BATF3
gene id: 9606:BATF3
uniprot id: Q9NR55
up 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 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: 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: 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:GCNT3
gene id: 9606:GCNT3
uniprot id: A0A024R5T9
uniprot id: O95395
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: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 3
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 feature ids: PRO_0000288545

9606:OR2T2
gene id: 9606:OR2T2
uniprot id: Q6IF00
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: 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:TBX1
gene id: 9606:TBX1
uniprot id: D9ZGG0
uniprot id: O43435
uniprot id: Q152R5
up 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 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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: In CTHM and VCFS.
up seq anno comments: In DGS.
up seq anno comments: In VCFS.
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform B.
up seq anno comments: In isoform C.
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: T-box
up seq anno comments: T-box transcription factor TBX1
up seq anno feature ids: PRO_0000184423
up seq anno feature ids: VAR_024657
up seq anno feature ids: VAR_034545
up seq anno feature ids: VAR_035025
up seq anno feature ids: VAR_035026
up seq anno feature ids: VAR_036065
up seq anno feature ids: VSP_006383
up seq anno feature ids: VSP_007423

9606:EPHA2
gene id: 9606:EPHA2
uniprot id: A0A024QZA8
uniprot id: P29317
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: Secondary Structure
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: 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: 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: Eph LBD
up seq anno comments: Ephrin type-A 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: Helical
up seq anno comments: In CTRCT6; reduced protein stability and reduced ability to stimulate cell migration in absence of its ephrin ligand.
up seq anno comments: In CTRCT6; retained in the cytoplasm and constitutively active it alters EPHA2 signaling.
up seq anno comments: In a gastric adenocarcinoma sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Increases serum-induced chemotaxis. Loss of EFNA1-dependent regulation of cell migration.
up seq anno comments: Loss of kinase activity.
up seq anno comments: Loss of serum-induced phosphorylation by PKB. Loss of serum-induced chemotaxis.
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 PKB/AKT1, RPS6KA1, RPS6KA3 AND PKA
up seq anno comments: Phosphothreonine
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: SAM
up seq anno comments: Significantly reduced response to EFNA1.
up seq anno comments: receptor protein-tyrosine kinase
up seq anno feature ids: PRO_0000016800
up seq anno feature ids: PRO_5001536526
up seq anno feature ids: VAR_042121
up seq anno feature ids: VAR_042122
up seq anno feature ids: VAR_042123
up seq anno feature ids: VAR_042124
up seq anno feature ids: VAR_042125
up seq anno feature ids: VAR_055989
up seq anno feature ids: VAR_055990
up seq anno feature ids: VAR_058907
up seq anno feature ids: VAR_058908
up seq anno feature ids: VAR_062532
up seq anno feature ids: VSP_056014
up seq anno feature ids: VSP_056015

9606:GPR137B
gene id: 9606:GPR137B
uniprot id: O60478
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: 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 GPR137B
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_0000072583

9606:LYSMD1
gene id: 9606:LYSMD1
uniprot id: Q96S90
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: Secondary Structure
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: 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: 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:PRSS36
gene id: 9606:PRSS36
uniprot id: B4DNP1
uniprot id: Q5K4E3
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: 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: 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 comments: Charge relay system
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 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: Polyserase-2
up seq anno feature ids: PRO_0000027879
up seq anno feature ids: PRO_0000027880
up seq anno feature ids: VSP_044718
up seq anno feature ids: VSP_046639

9606:RALB
gene id: 9606:RALB
uniprot id: P11234
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: Secondary Structure
up seq anno parent labels: Site
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: Propeptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Converts geranyl-geranylation to farnesylation. No effect on membrane localization. Confers resistance to GGTI-induced pancreatic cancer cell apoptosis, but not to GGTI-dependent inhibition of anchorage-independent proliferation.
up seq anno comments: Cysteine methyl ester
up seq anno comments: Effector region
up seq anno comments: Impaired abscission, the last step of cytokinesis, as shown by the accumulation of bridged cells. No effect on cytokinesis; when associated with V-23. Decreased interaction with EXOC2 and EXOC8; when associated with V-23.
up seq anno comments: Impaired abscission, the last step of cytokinesis. No effect on cytokinesis; when associated with V-23.
up seq anno comments: Impaired cytokinesis, as shown by increased number of binucleate cells. Impaired cytokinesis; when associated with 1-M--S-11 or N-49. No effect on cytokinesis; when associated with R-38, W-48 or E-49. No effect on interaction with EXOC2 and EXOC8. Decreased interaction with EXOC2 and EXOC8; when associated with R-38 or W-48.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of GTPase activity.
up seq anno comments: Loss of geranylgeranylation and membrane localization.
up seq anno comments: No effect on cytokinesis. Impaired cytokinesis, as shown by increased number of binucleate cells; when associated with V-23.
up seq anno comments: No effect on cytokinesis. No effect on cytokinesis; when associated with V-23. Decreased interaction with EXOC2 and EXOC8; when associated with V-23.
up seq anno comments: Ras-related protein Ral-B
up seq anno comments: Reduces the binding affinity to EXOC2 effector.
up seq anno comments: Removed in mature form
up seq anno comments: S-geranylgeranyl cysteine
up seq anno feature ids: PRO_0000082698
up seq anno feature ids: PRO_0000281349
up seq anno feature ids: VSP_055843
up seq anno feature ids: VSP_055844

9606:HACL1
gene id: 9606:HACL1
uniprot id: B4DXR1
uniprot id: Q9UJ83
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: 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: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: 2-hydroxyacyl-CoA lyase 1
up seq anno comments: Does not affect subcellular localization. Abolishes lyase activity. Does not affect subcellular localization, abolishes lyase activity, does not affect oligomerisation and does not bind TTP; when associated with S-455.
up seq anno comments: Does not affect subcellular localization. Abolishes lyase activity. Does not affect subcellular localization, abolishes lyase activity, does not affect oligomerisation and does not bind TTP; when associated with S-456.
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-succinyllysine
up seq anno comments: Phosphoserine
up seq anno comments: TPP_enzyme_C
up seq anno comments: TPP_enzyme_M
up seq anno comments: TPP_enzyme_N
up seq anno feature ids: PRO_0000090816
up seq anno feature ids: VSP_054191
up seq anno feature ids: VSP_054192
up seq anno feature ids: VSP_054749
up seq anno feature ids: VSP_054750

9606:ZNF680
gene id: 9606:ZNF680
uniprot id: Q8NEM1
up 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 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 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: 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 680
up seq anno feature ids: PRO_0000234000
up seq anno feature ids: VAR_027892
up seq anno feature ids: VAR_027893
up seq anno feature ids: VAR_027894
up seq anno feature ids: VSP_043114
up seq anno feature ids: VSP_043115

9606:KLHL4
gene id: 9606:KLHL4
uniprot id: A5PKX1
uniprot id: Q9C0H6
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Repeat
up seq anno labels: Splice Variant
up seq anno comments: BTB
up seq anno comments: Basic and acidic residues
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 4
up seq anno feature ids: PRO_0000119104
up seq anno feature ids: VSP_002818

9606:CXCR5
gene id: 9606:CXCR5
uniprot id: A0N0R2
uniprot id: A8K647
uniprot id: P32302
uniprot id: Q2YD84
up 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 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: C-X-C chemokine receptor type 5
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G_PROTEIN_RECEP_F1_2
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 breast cancer sample; somatic mutation.
up seq anno comments: In isoform Short.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000069360
up seq anno feature ids: VAR_011838
up seq anno feature ids: VAR_035757
up seq anno feature ids: VSP_001892

9606:USP17L1
gene id: 9606:USP17L1
uniprot id: Q7RTZ2
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: Domain Extent
up seq anno comments: Nucleophile
up seq anno comments: Proton acceptor
up seq anno comments: USP
up seq anno comments: Ubiquitin carboxyl-terminal hydrolase 17-like protein 1
up seq anno feature ids: PRO_0000253963

9606:AJUBA
gene id: 9606:AJUBA
uniprot id: Q96IF1
up 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 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: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: In isoform 2.
up seq anno comments: LIM domain-containing protein ajuba
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: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000312625
up seq anno feature ids: VSP_044227

9606:RPL39
gene id: 9606:RPL39
uniprot id: P62891
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno comments: 60S ribosomal protein L39
up seq anno feature ids: PRO_0000127024

9606:CCT7
gene id: 9606:CCT7
uniprot id: Q99832
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: 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: 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 and isoform 4.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-acetylmethionine
up seq anno comments: N6-acetyllysine
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Removed; alternate
up seq anno comments: T-complex protein 1 subunit eta
up seq anno comments: T-complex protein 1 subunit eta, N-terminally processed
up seq anno feature ids: PRO_0000128365
up seq anno feature ids: PRO_0000434391
up seq anno feature ids: VAR_052269
up seq anno feature ids: VSP_043572
up seq anno feature ids: VSP_043573
up seq anno feature ids: VSP_043574

9606:CYP4F12
gene id: 9606:CYP4F12
uniprot id: Q9HCS2
up 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 labels: Binding Site
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: Cytochrome P450 4F12
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: axial binding residue
up seq anno feature ids: PRO_0000051857
up seq anno feature ids: VAR_013244
up seq anno feature ids: VAR_013245
up seq anno feature ids: VAR_013246
up seq anno feature ids: VAR_013247
up seq anno feature ids: VAR_048459
up seq anno feature ids: VAR_048460
up seq anno feature ids: VSP_055581
up seq anno feature ids: VSP_055582

9606:WDR47
gene id: 9606:WDR47
uniprot id: O94967
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 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: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: CTLH
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:PHTF1
gene id: 9606:PHTF1
uniprot id: Q9UMS5
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 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: 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: Helical
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: PHTF
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Protein PHTF1
up seq anno feature ids: PRO_0000127423
up seq anno feature ids: VSP_002144
up seq anno feature ids: VSP_002145

9606:EPHB3
gene id: 9606:EPHB3
uniprot id: P54753
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: Secondary Structure
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: 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:EMC4
gene id: 9606:EMC4
uniprot id: A0A024R9N3
uniprot id: A0A0S2Z598
uniprot id: Q5J8M3
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: 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 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 comments: Cytoplasmic
up seq anno comments: ER membrane protein complex subunit 4
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-acetylthreonine
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000251914
up seq anno feature ids: VAR_053775
up seq anno feature ids: VSP_020798
up seq anno feature ids: VSP_020799
up seq anno feature ids: VSP_037374
up seq anno feature ids: VSP_037375

9606:BFAR
gene id: 9606:BFAR
uniprot id: H3BMP2
uniprot id: Q9NZS9
up 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 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: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Zinc Finger
up seq anno comments: Bifunctional apoptosis regulator
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: RING-type
up seq anno comments: SAM
up seq anno feature ids: PRO_0000055822
up seq anno feature ids: VAR_052075
up seq anno feature ids: VAR_052076
up seq anno feature ids: VSP_055879
up seq anno feature ids: VSP_055880

9606:OSGIN2
gene id: 9606:OSGIN2
uniprot id: Q9Y236
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Oxidative stress-induced growth inhibitor 2
up seq anno feature ids: PRO_0000165372
up seq anno feature ids: VAR_050421
up seq anno feature ids: VAR_050422
up seq anno feature ids: VSP_041210

9606:ZNF35
gene id: 9606:ZNF35
uniprot id: P13682
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 labels: Chain
up seq anno labels: Crosslink
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: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Zinc finger protein 35
up seq anno feature ids: PRO_0000047366

9606:CFAP44
gene id: 9606:CFAP44
uniprot id: Q96MT7
uniprot id: Q9NUU0
uniprot id: Q9UF55
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 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: 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: 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:KIF12
gene id: 9606:KIF12
uniprot id: Q96FN5
up 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: 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: Sequence Variant
up seq anno comments: In PFIC8.
up seq anno comments: In PFIC8; unknown pathological significance.
up seq anno comments: Kinesin motor
up seq anno comments: Kinesin-like protein KIF12
up seq anno comments: Phosphoserine
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000125444
up seq anno feature ids: VAR_086702
up seq anno feature ids: VAR_086703
up seq anno feature ids: VAR_086704
up seq anno feature ids: VAR_086705

9606:TMEM11
gene id: 9606:TMEM11
uniprot id: P17152
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: Transmembrane protein 11, mitochondrial
up seq anno feature ids: PRO_0000072562

9606:TCTA
gene id: 9606:TCTA
uniprot id: P57738
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 labels: Chain
up seq anno labels: Glycosylation Site
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: Extracellular
up seq anno comments: Helical
up seq anno comments: N-acetylalanine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Removed
up seq anno comments: T-cell leukemia translocation-altered gene protein
up seq anno feature ids: PRO_0000072470

9606:RPS27
gene id: 9606:RPS27
uniprot id: P42677
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 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 labels: Zinc Finger
up seq anno comments: 40S ribosomal protein S27
up seq anno comments: C4-type
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000149051

9606:ZNF664
gene id: 9606:ZNF664
uniprot id: A0A024RBR7
uniprot id: Q8N3J9
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 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
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: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Zinc finger protein 664
up seq anno feature ids: PRO_0000296273

9606:BMERB1
gene id: 9606:BMERB1
uniprot id: A0A024QZI8
uniprot id: Q96MC5
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Splice Variant
up seq anno comments: BMERB
up seq anno comments: Basic and acidic residues
up seq anno comments: In isoform 2.
up seq anno comments: bMERB
up seq anno comments: bMERB domain-containing protein 1
up seq anno feature ids: PRO_0000079281
up seq anno feature ids: VSP_047232

9606:SPATA20
gene id: 9606:SPATA20
uniprot id: Q8TB22
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 labels: Chain
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: 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: Spermatogenesis-associated protein 20
up seq anno feature ids: PRO_0000278450
up seq anno feature ids: VAR_030777
up seq anno feature ids: VAR_030778
up seq anno feature ids: VAR_030779
up seq anno feature ids: VSP_023288
up seq anno feature ids: VSP_023289
up seq anno feature ids: VSP_023290
up seq anno feature ids: VSP_023291
up seq anno feature ids: VSP_023292

9606:NELFB
gene id: 9606:NELFB
uniprot id: Q8WX92
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: Secondary Structure
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: Turn
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:RUFY3
gene id: 9606:RUFY3
uniprot id: B4DG59
uniprot id: B4DKC2
uniprot id: Q7L099
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 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 Conflict
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: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Protein RUFY3
up seq anno comments: RUN
up seq anno feature ids: PRO_0000245833
up seq anno feature ids: VSP_041250
up seq anno feature ids: VSP_041251
up seq anno feature ids: VSP_041252
up seq anno feature ids: VSP_041253
up seq anno feature ids: VSP_041254
up seq anno feature ids: VSP_041255

9606:GALM
gene id: 9606:GALM
uniprot id: A0A384MDW6
uniprot id: Q96C23
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: Secondary Structure
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: 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: Strand
up seq anno labels: Turn
up seq anno comments: Decreased activity by 300-fold.
up seq anno comments: Decreased activity by 5-fold.
up seq anno comments: Galactose mutarotase
up seq anno comments: In GALAC4; decreased protein stability.
up seq anno comments: In GALAC4; loss of protein accumulation.
up seq anno comments: In GALAC4; unknown pathological significance; decreased protein stability.
up seq anno comments: Loss of activity.
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Proton acceptor
up seq anno comments: Proton donor
up seq anno comments: Removed
up seq anno feature ids: PRO_0000197433
up seq anno feature ids: VAR_024451
up seq anno feature ids: VAR_083547
up seq anno feature ids: VAR_083548
up seq anno feature ids: VAR_083549
up seq anno feature ids: VAR_083550

9606:IL36G
gene id: 9606:IL36G
uniprot id: Q9NZH8
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno labels: Chain
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: Interleukin-36 gamma
up seq anno feature ids: PRO_0000153648
up seq anno feature ids: PRO_0000430549
up seq anno feature ids: VAR_024505
up seq anno feature ids: VSP_013002

9606:GPR139
gene id: 9606:GPR139
uniprot id: A0A142CHG1
uniprot id: Q6DWJ6
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 labels: Chain
up seq anno labels: Domain Extent
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: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G_PROTEIN_RECEP_F1_2
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 139
up seq anno feature ids: PRO_0000069615

9606:CDK5R1
gene id: 9606:CDK5R1
uniprot id: Q15078
uniprot id: Q8N619
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 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: Strand
up seq anno labels: Turn
up seq anno comments: Absent from the cell periphery.
up seq anno comments: Cyclin-dependent kinase 5 activator 1, p25
up seq anno comments: Cyclin-dependent kinase 5 activator 1, p35
up seq anno comments: In L-3A mutant; abolished recognition and ubiquitination by the CRL2(FEM1B) complex.
up seq anno comments: In L-3R mutant; abolished recognition and ubiquitination by the CRL2(FEM1B) complex, while promoting recognition and ubiquitination by the CRL2(FEM1B) complex.
up seq anno comments: Increased susceptibility to calpain.
up seq anno comments: N-myristoyl glycine
up seq anno comments: Phosphoserine; by CDK5
up seq anno comments: Phosphothreonine; by CDK5
up seq anno comments: Polar residues
up seq anno comments: Reduced susceptibility to calpain.
up seq anno comments: Removed
up seq anno feature ids: PRO_0000004794
up seq anno feature ids: PRO_0000004795

9606:HTR5A
gene id: 9606:HTR5A
uniprot id: A4D2N2
uniprot id: P47898
up 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 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: 5-hydroxytryptamine receptor 5A
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G_PROTEIN_RECEP_F1_2
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 colorectal cancer sample; somatic mutation.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000068969
up seq anno feature ids: VAR_035753

9606:SEM1
gene id: 9606:SEM1
uniprot id: P60896
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno comments: 26S proteasome complex subunit SEM1
up seq anno feature ids: PRO_0000122961
up seq anno feature ids: VAR_012003

9606:FLRT1
gene id: 9606:FLRT1
uniprot id: A0A6E1VY70
uniprot id: Q9NZU1
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 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: 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: Fibronectin type-III
up seq anno comments: Helical
up seq anno comments: LRR 1
up seq anno comments: LRR 10
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 transmembrane protein FLRT1
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000021278

9606:SUMO4
gene id: 9606:SUMO4
uniprot id: Q6EEV6
up 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 labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Propeptide
up seq anno labels: Sequence Variant
up seq anno comments: Glycyl lysine isopeptide (Gly-Lys) (interchain with K-? in acceptor proteins)
up seq anno comments: Small ubiquitin-related modifier 4
up seq anno comments: Ubiquitin-like
up seq anno feature ids: PRO_0000042710
up seq anno feature ids: PRO_0000042711
up seq anno feature ids: VAR_023740

9606:KCNJ5-AS1
gene id: 9606:KCNJ5-AS1
uniprot id: Q8TAV5
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: Glycosylation Site
up seq anno labels: Signal Peptide
up seq anno comments: Basic and acidic residues
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Uncharacterized protein KCNJ5-AS1
up seq anno feature ids: PRO_0000251890

9606:MOG
gene id: 9606:MOG
uniprot id: Q16653
uniprot id: Q5SSB8
up 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 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 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
up seq anno comments: Ig-like V-type
up seq anno comments: In NRCLP7.
up seq anno comments: In isoform 10.
up seq anno comments: In isoform 11.
up seq anno comments: In isoform 13.
up seq anno comments: In isoform 2 and isoform 6.
up seq anno comments: In isoform 3, isoform 7 and isoform 12.
up seq anno comments: In isoform 4 and isoform 12.
up seq anno comments: In isoform 5, isoform 6, isoform 7 and isoform 8.
up seq anno comments: In isoform 8.
up seq anno comments: In isoform 9.
up seq anno comments: Myelin-oligodendrocyte glycoprotein
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000014888
up seq anno feature ids: PRO_5014586883
up seq anno feature ids: VAR_056056
up seq anno feature ids: VAR_060215
up seq anno feature ids: VAR_066415
up seq anno feature ids: VSP_002539
up seq anno feature ids: VSP_002540
up seq anno feature ids: VSP_002541
up seq anno feature ids: VSP_002542
up seq anno feature ids: VSP_002543
up seq anno feature ids: VSP_002544
up seq anno feature ids: VSP_002545
up seq anno feature ids: VSP_040344
up seq anno feature ids: VSP_040345
up seq anno feature ids: VSP_046856
up seq anno feature ids: VSP_055600

9606:GHITM
gene id: 9606:GHITM
uniprot id: Q9H3K2
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Topological Domain
up seq anno labels: Transit Peptide
up seq anno labels: Transmembrane
up seq anno comments: Growth hormone-inducible transmembrane protein
up seq anno comments: Helical
up seq anno comments: Mitochondrial intermembrane
up seq anno comments: Mitochondrial matrix
up seq anno comments: Mitochondrion
up seq anno feature ids: PRO_0000179119

9606:TCF4
gene id: 9606:TCF4
uniprot id: A0A024R2C0
uniprot id: A0A1B0GW91
uniprot id: A0A1B0GWD5
uniprot id: B3KVA4
uniprot id: E9PH57
uniprot id: H3BPJ7
uniprot id: H3BTP3
uniprot id: P15884
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: Secondary Structure
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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: 9aaTAD
up seq anno comments: BHLH
up seq anno comments: Basic and acidic residues
up seq anno comments: In PTHS.
up seq anno comments: In PTHS; also expressed in the nucleus with a pattern indistinguishable from the wild-type; does not have a major impact on homodimer formation; affects transcriptional activity in a context-dependent manner.
up seq anno comments: In PTHS; loss of function.
up seq anno comments: In PTHS; loss of function; also expressed in the nucleus with a pattern indistinguishable from the wild-type; does not have a major impact on homodimer formation; affects transcriptional activity in a context-dependent manner.
up seq anno comments: In PTHS; loss of function; mislocalized to small spherical punctae that are dispersed throughout the nucleus; can attenuate homo- and heterodimer formation; affects transcriptional activity in a context-dependent manner.
up seq anno comments: In PTHS; mislocalized to small spherical punctae that are dispersed throughout the nucleus; can attenuate homo- and heterodimer formation; affects transcriptional activity in a context-dependent manner.
up seq anno comments: In isoform 11.
up seq anno comments: In isoform 13, isoform C- and isoform C-delta.
up seq anno comments: In isoform A-, isoform B-delta, isoform B+delta and isoform C-delta.
up seq anno comments: In isoform A-.
up seq anno comments: In isoform B+delta, isoform SEF2-1A, isoform SEF2-1D, isoform 11 and isoform 13.
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- and isoform 11.
up seq anno comments: In isoform G-.
up seq anno comments: In isoform H-.
up seq anno comments: In isoform I-.
up seq anno comments: In isoform SEF2-1A.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Probable disease-associated variant found in a family with symmetrical acral keratoderma.
up seq anno comments: Transcription factor 4
up seq anno comments: bHLH
up seq anno feature ids: PRO_0000127256
up seq anno feature ids: VAR_034704
up seq anno feature ids: VAR_034705
up seq anno feature ids: VAR_049545
up seq anno feature ids: VAR_058632
up seq anno feature ids: VAR_058633
up seq anno feature ids: VAR_058634
up seq anno feature ids: VAR_066839
up seq anno feature ids: VAR_066840
up seq anno feature ids: VAR_066841
up seq anno feature ids: VAR_066970
up seq anno feature ids: VAR_066971
up seq anno feature ids: VAR_066972
up seq anno feature ids: VAR_066973
up seq anno feature ids: VAR_066974
up seq anno feature ids: VAR_078644
up seq anno feature ids: VAR_079726
up seq anno feature ids: VSP_002111
up seq anno feature ids: VSP_002112
up seq anno feature ids: VSP_030819
up seq anno feature ids: VSP_044334
up seq anno feature ids: VSP_044335
up seq anno feature ids: VSP_044336
up seq anno feature ids: VSP_044337
up seq anno feature ids: VSP_044338
up seq anno feature ids: VSP_044339
up seq anno feature ids: VSP_044340
up seq anno feature ids: VSP_045149
up seq anno feature ids: VSP_045150

9606:IQCN
gene id: 9606:IQCN
uniprot id: A0JP07
uniprot id: Q9H0B3
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Basic and acidic residues
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: IQ 5
up seq anno comments: IQ 6
up seq anno comments: IQ domain-containing protein N
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_0000050801
up seq anno feature ids: VAR_023418
up seq anno feature ids: VAR_023419
up seq anno feature ids: VAR_023420
up seq anno feature ids: VAR_023421
up seq anno feature ids: VAR_023422
up seq anno feature ids: VAR_034042
up seq anno feature ids: VAR_034043
up seq anno feature ids: VAR_049520
up seq anno feature ids: VAR_049521
up seq anno feature ids: VAR_049522
up seq anno feature ids: VAR_049523
up seq anno feature ids: VAR_049524
up seq anno feature ids: VAR_049525
up seq anno feature ids: VSP_015473
up seq anno feature ids: VSP_015474
up seq anno feature ids: VSP_015475
up seq anno feature ids: VSP_015476
up seq anno feature ids: VSP_045713
up seq anno feature ids: VSP_045714

9606:RAB30
gene id: 9606:RAB30
uniprot id: Q15771
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: Secondary Structure
up seq anno parent labels: Site
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: 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 2.
up seq anno comments: Ras-related protein Rab-30
up seq anno comments: Removed in mature form
up seq anno comments: S-geranylgeranyl cysteine
up seq anno feature ids: PRO_0000121230
up seq anno feature ids: PRO_0000370826
up seq anno feature ids: VSP_055833
up seq anno feature ids: VSP_055834

9606:TMEM131
gene id: 9606:TMEM131
uniprot id: Q92545
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: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Helical
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: Transmembrane protein 131
up seq anno feature ids: PRO_0000097538

9606:C7orf50
gene id: 9606:C7orf50
uniprot id: Q9BRJ6
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: Modified Residue
up seq anno comments: Basic and acidic residues
up seq anno comments: Phosphoserine
up seq anno comments: Uncharacterized protein C7orf50
up seq anno feature ids: PRO_0000309510

9606:SPATA31D4
gene id: 9606:SPATA31D4
uniprot id: Q6ZUB0
up seq anno parent labels: Experimental Information
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: Sequence Conflict
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Helical
up seq anno comments: Polar residues
up seq anno comments: Spermatogenesis-associated protein 31D4
up seq anno feature ids: PRO_0000332289

9606:DENND2A
gene id: 9606:DENND2A
uniprot id: A2RUF6
uniprot id: Q9ULE3
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 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: 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: DENN domain-containing protein 2A
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: UDENN
up seq anno comments: cDENN
up seq anno comments: dDENN
up seq anno comments: uDENN
up seq anno feature ids: PRO_0000242682
up seq anno feature ids: VAR_026856
up seq anno feature ids: VAR_026857
up seq anno feature ids: VAR_026858
up seq anno feature ids: VSP_019466
up seq anno feature ids: VSP_019467

9606:APOA1
gene id: 9606:APOA1
uniprot id: A0A024R3E3
uniprot id: P02647
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: Secondary Structure
up seq anno labels: Chain
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: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Turn
up seq anno comments: 1
up seq anno comments: 10
up seq anno comments: 2
up seq anno comments: 3; half-length
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; half-length
up seq anno comments: Apolipoprotein A-I
up seq anno comments: Confirmed at protein level.
up seq anno comments: In AMYL8.
up seq anno comments: In AMYL8; also found in a family with amyloid polyneuropathy-nephropathy Iowa.
up seq anno comments: In AMYL8; plasma level of HDL and apoA-I protein were significantly lower in the patient.
up seq anno comments: In AMYL8; unknown pathological significance.
up seq anno comments: In Baltimore.
up seq anno comments: In Boston; no evidence of association with premature coronary heart disease; associated with decreased levels of HDL cholesterol; associated with decreased serum cellular cholesterol efflux; associated with decreased lecithin-cholesterol acyltransferase (LCAT) activity.
up seq anno comments: In FHA2; missing protein expression.
up seq anno comments: In FHA2; no protein expression.
up seq anno comments: In Fukuoka.
up seq anno comments: In Giessen.
up seq anno comments: In HDL deficiency; with periorbital xanthelasmas; decreased protein abundance.
up seq anno comments: In Hita.
up seq anno comments: In Marburg/Munster-2.
up seq anno comments: In Milano; no evidence of association with premature vascular disease; associated with decreased HDL levels and moderate increase in triglycerides; allows the formation of disulfide-linked homodimers via the introduced cysteine; assembles properly in HDL; alters protein structure; has no tendency to form fibrils and aggregates.
up seq anno comments: In Munster-3A.
up seq anno comments: In Munster-3B.
up seq anno comments: In Munster-3C.
up seq anno comments: In Munster-4.
up seq anno comments: In Norway.
up seq anno comments: In Oita; 60% of normal apoA-I and normal HDL cholesterol levels; rapidly cleared from plasma.
up seq anno comments: In Tsushima.
up seq anno comments: In Zaragoza.
up seq anno comments: Methionine sulfoxide
up seq anno comments: N-linked (Glc) (glycation) lysine
up seq anno comments: Proapolipoprotein A-I
up seq anno comments: Truncated apolipoprotein A-I
up seq anno comments: With 1 methionine sulfoxide, oxidation at Met-110.
up seq anno comments: With 1 methionine sulfoxide, oxidation at Met-136.
up seq anno comments: With 2 methionine sulfoxides, oxidation at Met-110 and Met-136.
up seq anno comments: Without methionine sulfoxide.
up seq anno feature ids: PRO_0000001939
up seq anno feature ids: PRO_0000001940
up seq anno feature ids: PRO_0000425323
up seq anno feature ids: PRO_5014214223
up seq anno feature ids: VAR_000605
up seq anno feature ids: VAR_000606
up seq anno feature ids: VAR_000607
up seq anno feature ids: VAR_000608
up seq anno feature ids: VAR_000609
up seq anno feature ids: VAR_000610
up seq anno feature ids: VAR_000611
up seq anno feature ids: VAR_000612
up seq anno feature ids: VAR_000613
up seq anno feature ids: VAR_000614
up seq anno feature ids: VAR_000615
up seq anno feature ids: VAR_000616
up seq anno feature ids: VAR_000617
up seq anno feature ids: VAR_000618
up seq anno feature ids: VAR_000619

9606:MLLT6
gene id: 9606:MLLT6
uniprot id: P55198
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Basic and acidic residues
up seq anno comments: C2HC pre-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: Protein AF-17
up seq anno feature ids: PRO_0000215937
up seq anno feature ids: VAR_022076
up seq anno feature ids: VAR_080170

9606:GPR183
gene id: 9606:GPR183
uniprot id: A0A024RDX2
uniprot id: P32249
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: Secondary Structure
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: 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: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: 10-fold reduction in receptor activation.
up seq anno comments: 10-fold reduction in receptor activation. Strongly reduced localization to the cell membrane.
up seq anno comments: 500-fold decrease of IC(50) for GSK682753A. No effect on oxysterol agonist-binding and receptor activation.
up seq anno comments: Abolishes localization to the cell membrane without affecting protein expression levels.
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G-protein coupled receptor 183
up seq anno comments: G_PROTEIN_RECEP_F1_2
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 an acute myeloid leukemia sample; somatic mutation.
up seq anno comments: Increased receptor activation.
up seq anno comments: Increased receptor activation. Strongly reduced localization to the cell membrane.
up seq anno comments: Loss of receptor activation without affecting oxysterol agonist-binding.
up seq anno comments: No effect.
up seq anno comments: Phosphoserine
up seq anno comments: Reduced localization to the cell membrane and reduced receptor function, without affecting oxysterol agonist-binding.
up seq anno comments: Reduced localization to the cell membrane and reduced receptor function.
up seq anno comments: Reduced localization to the cell membrane and reduced receptor function. Reduced oxysterol agonist-binding.
up seq anno comments: Slight decrease in oxysterol agonist-binding and receptor activation.
up seq anno comments: Strong decrease in oxysterol agonist-binding and receptor activation.
up seq anno comments: Strong reduction in ligand potency.
up seq anno comments: Strongly reduced localization to the cell membrane and reduced protein expression levels.
up seq anno comments: Strongly reduced localization to the cell membrane.
up seq anno feature ids: PRO_0000069411
up seq anno feature ids: VAR_054147

9606:UQCRH
gene id: 9606:UQCRH
uniprot id: P07919
uniprot id: Q567R0
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: Secondary Structure
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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: Acidic residues
up seq anno comments: Cytochrome b-c1 complex subunit 6, mitochondrial
up seq anno comments: Mitochondrion
up seq anno comments: N6-acetyllysine
up seq anno comments: UCR_hinge
up seq anno feature ids: PRO_0000035990
up seq anno feature ids: PRO_5014309659
up seq anno feature ids: VAR_034579

9606:CIB3
gene id: 9606:CIB3
uniprot id: Q96Q77
up 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 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: Calcium and integrin-binding family member 3
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 feature ids: PRO_0000073536
up seq anno feature ids: VAR_060268
up seq anno feature ids: VSP_055509

9606:FGF1
gene id: 9606:FGF1
uniprot id: P05230
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: Secondary Structure
up seq anno parent labels: 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: 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: Decrease in LRRC59-binding.
up seq anno comments: Dominant-negative mutant. Defective in integrin-binding and in ternary complex formation with integrin and FGFR1. No effect on heparin- and FGFR1-binding. Defective in inducing FGF1 signaling, cell proliferation and cell migration. Defective in inducing angiogenesis, and suppression of angiogenesis in different in vitro and in vivo angiogenesis models.
up seq anno comments: Fibroblast growth factor 1
up seq anno comments: In isoform 2.
up seq anno comments: Loss of CSNK2A-, CSNK2B- and LRRC59-binding. Reduced integrin-binding; when associated with E-134. Defective in integrin-, heparin- and FGFR1-binding, and defective in inducing FGF1 signaling, cell proliferation and cell migration; when associated with E-128; E-133 and E-134.
up seq anno comments: Loss of LRRC59-binding.
up seq anno comments: Loss of nuclear import leading to loss of phosphorylation by PKC/PRKCD.
up seq anno comments: N-acetylalanine
up seq anno comments: No effect on LRRC59-binding.
up seq anno comments: No effect on integrin- and heparin-binding, loss of FGFR1-binding, defective in inducing FGF1 signaling, cell proliferation and cell migration; when associated with A-102 and A-110.
up seq anno comments: No effect on integrin-binding.
up seq anno comments: No effect on integrin-binding. No effect on integrin- and heparin-binding, loss of FGFR1-binding, defective in inducing FGF1 signaling, cell proliferation and cell migration; when associated with A-102 and A-109.
up seq anno comments: No effect on integrin-binding. No effect on integrin- and heparin-binding, loss of FGFR1-binding, defective in inducing FGF1 signaling, cell proliferation and cell migration; when associated with A-109 and A-110.
up seq anno comments: Nuclear localization signal
up seq anno comments: Reduced integrin-binding; when associated with E-127. Defective in integrin-, heparin- and FGFR1-binding, and defective in inducing FGF1 signaling, cell proliferation and cell migration; when associated with E-127; E-133 and E-134.
up seq anno comments: Reduced integrin-binding; when associated with E-128. Defective in integrin-, heparin- and FGFR1-binding, and defective in inducing FGF1 signaling, cell proliferation and cell migration; when associated with E-128; E-133 and E-134.
up seq anno comments: Reduced integrin-binding; when associated with E-133. Defective in integrin-, heparin- and FGFR1-binding, and defective in inducing FGF1 signaling, cell proliferation and cell migration; when associated with E-127; E-128 and E-133.
up seq anno comments: Removed
up seq anno feature ids: PRO_0000008907
up seq anno feature ids: PRO_0000008908
up seq anno feature ids: VAR_021357
up seq anno feature ids: VSP_036536
up seq anno feature ids: VSP_036537

9606:RPS4X
gene id: 9606:RPS4X
uniprot id: B2R491
uniprot id: P62701
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 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: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 40S ribosomal protein S4, X isoform
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: Removed
up seq anno comments: S4
up seq anno comments: S4 RNA-binding
up seq anno feature ids: PRO_0000130805

9606:FAM133B
gene id: 9606:FAM133B
uniprot id: Q5BKY9
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Protein FAM133B
up seq anno feature ids: PRO_0000287616
up seq anno feature ids: VSP_025571

9606:NR2F6
gene id: 9606:NR2F6
uniprot id: F1D8R3
uniprot id: P10588
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 labels: Chain
up seq anno labels: DNA Binding
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: Zinc Finger
up seq anno comments: Loss of DNA (TRE) binding. Reduces the corepressor activity towards THRB.
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 2 group F member 6
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000053613

9606:ANKRD7
gene id: 9606:ANKRD7
uniprot id: A0A140VJE5
uniprot id: Q92527
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 labels: Chain
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
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 7
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000066902
up seq anno feature ids: VSP_037160

9606:TP53INP2
gene id: 9606:TP53INP2
uniprot id: Q8IXH6
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Sequence Conflict
up seq anno comments: Basic and acidic residues
up seq anno comments: LIR
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Tumor protein p53-inducible nuclear protein 2
up seq anno feature ids: PRO_0000072409

9606:C2CD5
gene id: 9606:C2CD5
uniprot id: B7ZLK1
uniprot id: Q86YS7
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: 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: 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: 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:KLF8
gene id: 9606:KLF8
uniprot id: A0A024R9X4
uniprot id: O95600
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 labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
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: Zinc Finger
up seq anno comments: 9aaTAD; inactive
up seq anno comments: Abolishes sumoylation. No change in nuclear location. Increases transcriptional activity and cell cycle progression. Abolishes sumoylation; when associated with R-217.
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: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
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: Krueppel-like factor 8
up seq anno comments: No change in sumoylation. Abolishes sumoylation; when associated with R-67.
up seq anno feature ids: PRO_0000047176
up seq anno feature ids: VSP_045460
up seq anno feature ids: VSP_047480
up seq anno feature ids: VSP_047481

9606:DFFB
gene id: 9606:DFFB
uniprot id: B4DZS0
uniprot id: O76075
uniprot id: Q96P72
uniprot id: Q96P73
uniprot id: Q96P74
up 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 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: CIDE-N
up seq anno comments: DNA fragmentation factor subunit beta
up seq anno comments: In isoform Beta.
up seq anno comments: In isoform Delta.
up seq anno comments: In isoform Gamma.
up seq anno feature ids: PRO_0000144713
up seq anno feature ids: VAR_009305
up seq anno feature ids: VAR_048737
up seq anno feature ids: VSP_001080
up seq anno feature ids: VSP_001081
up seq anno feature ids: VSP_001082
up seq anno feature ids: VSP_001083
up seq anno feature ids: VSP_001084

9606:DEPDC4
gene id: 9606:DEPDC4
uniprot id: A0A024RBI9
uniprot id: Q8N2C3
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 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 4
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000284783
up seq anno feature ids: VAR_031815
up seq anno feature ids: VSP_024646
up seq anno feature ids: VSP_024647

9606:XPNPEP2
gene id: 9606:XPNPEP2
uniprot id: O43895
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: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
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: GPI-anchor amidated alanine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Removed in mature form
up seq anno comments: Xaa-Pro aminopeptidase 2
up seq anno feature ids: PRO_0000026829
up seq anno feature ids: PRO_0000026830
up seq anno feature ids: VAR_071310
up seq anno feature ids: VAR_071311
up seq anno feature ids: VAR_071312

9606:LTO1
gene id: 9606:LTO1
uniprot id: A0A024R5H3
uniprot id: Q8WV07
up 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 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 Variant
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Protein LTO1 homolog
up seq anno comments: Removed
up seq anno comments: Yae1_N
up seq anno feature ids: PRO_0000058075
up seq anno feature ids: VAR_062231

9606:APOBEC3H
gene id: 9606:APOBEC3H
uniprot id: B7TQM3
uniprot id: B7TQM4
uniprot id: B7TQM9
uniprot id: Q6NTF7
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: 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: 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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: CMP/dCMP-type deaminase
up seq anno comments: DNA dC->dU-editing enzyme APOBEC-3H
up seq anno comments: Decreases protein stability.
up seq anno comments: In allele A3H-Var; haplotype 2; allele presenting a higher expression and more effective in retrotransposons and HIV-1 restriction.
up seq anno comments: In allele A3H-Var; haplotype 2; allele presenting a higher expression and which is more effective in retrotransposons and HIV-1 restriction; increases protein stability.
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: Proton donor
up seq anno comments: Reduces the ability to inhibit the retrotransposition of LINE-1 elements.
up seq anno feature ids: PRO_0000291663
up seq anno feature ids: VAR_032835
up seq anno feature ids: VAR_032836
up seq anno feature ids: VAR_032837
up seq anno feature ids: VAR_032838
up seq anno feature ids: VAR_032839
up seq anno feature ids: VAR_065622
up seq anno feature ids: VAR_067444
up seq anno feature ids: VSP_035034
up seq anno feature ids: VSP_039975
up seq anno feature ids: VSP_047044

9606:ZNF280A
gene id: 9606:ZNF280A
uniprot id: A0A0G2JN84
uniprot id: P59817
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Sequence 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 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: Polar residues
up seq anno comments: Zinc finger protein 280A
up seq anno feature ids: PRO_0000047055
up seq anno feature ids: VAR_028218
up seq anno feature ids: VAR_028219
up seq anno feature ids: VAR_028220
up seq anno feature ids: VAR_028221
up seq anno feature ids: VAR_028222
up seq anno feature ids: VAR_028223
up seq anno feature ids: VAR_028224
up seq anno feature ids: VAR_028225
up seq anno feature ids: VAR_028226

9606:BHLHE23
gene id: 9606:BHLHE23
uniprot id: A0A087WXG3
uniprot id: Q8NDY6
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 comments: BHLH
up seq anno comments: Basic and acidic residues
up seq anno comments: Class E basic helix-loop-helix protein 23
up seq anno comments: bHLH
up seq anno feature ids: PRO_0000245526

9606:PDCD5
gene id: 9606:PDCD5
uniprot id: O14737
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: 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 labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
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: Programmed cell death protein 5
up seq anno comments: Removed
up seq anno feature ids: PRO_0000121545
up seq anno feature ids: VSP_056203

9606:CHTF8
gene id: 9606:CHTF8
uniprot id: P0CG13
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno comments: Chromosome transmission fidelity protein 8 homolog
up seq anno feature ids: PRO_0000327253

9606:MRPL15
gene id: 9606:MRPL15
uniprot id: Q9P015
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: Secondary Structure
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
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: 39S ribosomal protein L15, mitochondrial
up seq anno comments: Basic residues
up seq anno comments: Mitochondrion
up seq anno feature ids: PRO_0000257838

9606:KRTAP9-1
gene id: 9606:KRTAP9-1
uniprot id: A8MXZ3
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
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: 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:SAFB2
gene id: 9606:SAFB2
uniprot id: Q14151
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 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: Motif
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
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: 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-acetylalanine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: Nuclear localization signal
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: RRM
up seq anno comments: Removed
up seq anno comments: SAP
up seq anno comments: Scaffold attachment factor B2
up seq anno feature ids: PRO_0000081907
up seq anno feature ids: VSP_056404
up seq anno feature ids: VSP_056405

9606:DNAJC18
gene id: 9606:DNAJC18
uniprot id: Q9H819
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: Transmembrane
up seq anno comments: DnaJ homolog subfamily C member 18
up seq anno comments: Helical
up seq anno comments: J
up seq anno feature ids: PRO_0000244085

9606:MBTPS1
gene id: 9606:MBTPS1
uniprot id: Q14703
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: 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: Glycosylation Site
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: 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: Cytoplasmic
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: 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

9606:SLC12A9
gene id: 9606:SLC12A9
uniprot id: Q9BXP2
uniprot id: Q9H7I6
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 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 Conflict
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: AA_permease
up seq anno comments: Cytoplasmic
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 4.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: SLC12
up seq anno comments: Solute carrier family 12 member 9
up seq anno feature ids: PRO_0000331415
up seq anno feature ids: VSP_033192
up seq anno feature ids: VSP_033193
up seq anno feature ids: VSP_033194
up seq anno feature ids: VSP_045591
up seq anno feature ids: VSP_045592

9606:ACACA
gene id: 9606:ACACA
uniprot id: A0A024R0Y2
uniprot id: Q13085
uniprot id: Q7Z5W8
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: Secondary Structure
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: 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: ATP-grasp
up seq anno comments: Abolishes interaction with BRCA1.
up seq anno comments: Acetyl-CoA carboxylase 1
up seq anno comments: Biotin carboxylation
up seq anno comments: Biotinyl-binding
up seq anno comments: CoA carboxyltransferase C-terminal
up seq anno comments: CoA carboxyltransferase N-terminal
up seq anno comments: Frequency <0.004; may play a role in breast cancer susceptibility.
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: Lipoyl-binding
up seq anno comments: N-acetylmethionine
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-biotinyllysine
up seq anno comments: No effect on interaction with BRCA1.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000146764
up seq anno feature ids: VAR_028929
up seq anno feature ids: VAR_036514
up seq anno feature ids: VAR_042941
up seq anno feature ids: VSP_026098
up seq anno feature ids: VSP_026099
up seq anno feature ids: VSP_026100

9606:TMEFF1
gene id: 9606:TMEFF1
uniprot id: Q8IYR6
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 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: 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: EGF-like
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Kazal-like 1
up seq anno comments: Kazal-like 2
up seq anno comments: Polar residues
up seq anno comments: Tomoregulin-1
up seq anno feature ids: PRO_0000286056
up seq anno feature ids: VAR_032060
up seq anno feature ids: VSP_024959

9606:SPATA31A7
gene id: 9606:SPATA31A7
uniprot id: Q8IWB4
up seq anno parent labels: Experimental Information
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: Sequence Conflict
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Helical
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Spermatogenesis-associated protein 31A7
up seq anno feature ids: PRO_0000280245

9606:FOXC2
gene id: 9606:FOXC2
uniprot id: Q99958
up 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 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: Sequence Variant
up seq anno labels: Strand
up seq anno comments: Asymmetric dimethylarginine
up seq anno comments: Basic and acidic residues
up seq anno comments: Fork-head
up seq anno comments: Forkhead box protein C2
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In LPHDST.
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: Pro residues
up seq anno feature ids: PRO_0000091808
up seq anno feature ids: VAR_018418
up seq anno feature ids: VAR_060950

9606:MERTK
gene id: 9606:MERTK
uniprot id: Q12866
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: Secondary Structure
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: 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: 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: Found in a patient with Leber congenital amaurosis.
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 RP38.
up seq anno comments: In a head & Neck squamous cell carcinoma sample; somatic mutation.
up seq anno comments: In a renal clear cell carcinoma sample; somatic mutation.
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: Tyrosine-protein kinase Mer
up seq anno feature ids: PRO_0000024443
up seq anno feature ids: VAR_020285
up seq anno feature ids: VAR_021039
up seq anno feature ids: VAR_021040
up seq anno feature ids: VAR_021041
up seq anno feature ids: VAR_021042
up seq anno feature ids: VAR_021043
up seq anno feature ids: VAR_021044
up seq anno feature ids: VAR_021045
up seq anno feature ids: VAR_021046
up seq anno feature ids: VAR_021047
up seq anno feature ids: VAR_021048
up seq anno feature ids: VAR_021049
up seq anno feature ids: VAR_029237
up seq anno feature ids: VAR_041741
up seq anno feature ids: VAR_041742
up seq anno feature ids: VAR_041743
up seq anno feature ids: VAR_041744
up seq anno feature ids: VAR_041745
up seq anno feature ids: VAR_041746
up seq anno feature ids: VAR_041747
up seq anno feature ids: VAR_051698
up seq anno feature ids: VAR_067194
up seq anno feature ids: VAR_067195

9606:STUB1
gene id: 9606:STUB1
uniprot id: Q9UNE7
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: Secondary Structure
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: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Abolishes E3 ligase activity.
up seq anno comments: E3 ubiquitin-protein ligase CHIP
up seq anno comments: Found in a patient with progressive myoclonus epilepsy; unknown pathological significance.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: In SCAR16.
up seq anno comments: In SCAR16; inhibits ubiquitin ligase activity and autoubiquitination.
up seq anno comments: In SCAR16; reduces protein level; does not reduce ubiquitin ligase activity and autoubiquitination.
up seq anno comments: In SCAR16; reduces protein level; reduces ubiquitin ligase activity; does not change autoubiquitination.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of ability to ubiquitinate FOXP3 and SIRT6.
up seq anno comments: Loss of interaction with FOXP3 and its ability to ubiquitinate FOXP3. Loss of interaction with SMAD3, HSPA8, HSP90AA1 and HSP90AB1.
up seq anno comments: Phosphoserine
up seq anno comments: TPR 1
up seq anno comments: TPR 2
up seq anno comments: TPR 3
up seq anno comments: U-box
up seq anno feature ids: PRO_0000106329
up seq anno feature ids: VAR_071293
up seq anno feature ids: VAR_071294
up seq anno feature ids: VAR_071295
up seq anno feature ids: VAR_071296
up seq anno feature ids: VAR_071297
up seq anno feature ids: VAR_071298
up seq anno feature ids: VAR_071299
up seq anno feature ids: VAR_071300
up seq anno feature ids: VAR_071301
up seq anno feature ids: VAR_072348
up seq anno feature ids: VAR_072349
up seq anno feature ids: VAR_072350
up seq anno feature ids: VAR_085041
up seq anno feature ids: VSP_015947

9606:GALNT11
gene id: 9606:GALNT11
uniprot id: A0A090N7X6
uniprot id: B7Z5G5
uniprot id: Q8NCW6
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: 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: 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: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Abolishes glycosyltransferase activity and ability to rescue left-right patterning defects induced by galnt11 knockdown in X.tropicalis.
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 isoform 2.
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Polypeptide N-acetylgalactosaminyltransferase 11
up seq anno comments: RICIN
up seq anno comments: Ricin B-type lectin
up seq anno feature ids: PRO_0000059125
up seq anno feature ids: VAR_019589
up seq anno feature ids: VAR_019590
up seq anno feature ids: VSP_011215
up seq anno feature ids: VSP_011216

9606:HCFC1R1
gene id: 9606:HCFC1R1
uniprot id: Q9NWW0
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 labels: Chain
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 comments: Host cell factor C1 regulator 1
up seq anno comments: In isoform 2.
up seq anno comments: Loss of interaction with HCFC1.
up seq anno comments: Nuclear export signal
up seq anno comments: Reduces nuclear export.
up seq anno feature ids: PRO_0000338978
up seq anno feature ids: VAR_043849
up seq anno feature ids: VSP_034082

9606:BEX1
gene id: 9606:BEX1
uniprot id: Q9HBH7
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 labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Phosphoserine
up seq anno comments: Protein BEX1
up seq anno feature ids: PRO_0000229772
up seq anno feature ids: VAR_025756
up seq anno feature ids: VAR_025757
up seq anno feature ids: VAR_042667
up seq anno feature ids: VAR_042668
up seq anno feature ids: VAR_042669
up seq anno feature ids: VAR_042670
up seq anno feature ids: VAR_042671

9606:ZFP69
gene id: 9606:ZFP69
uniprot id: Q49AA0
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 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 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: SCAN box
up seq anno comments: Zinc finger protein 69 homolog
up seq anno feature ids: PRO_0000252161
up seq anno feature ids: VAR_033583

9606:COX14
gene id: 9606:COX14
uniprot id: Q96I36
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
up seq anno comments: Cytochrome c oxidase assembly protein COX14
up seq anno comments: Helical
up seq anno comments: In MC4DN10.
up seq anno feature ids: PRO_0000263677
up seq anno feature ids: VAR_067038

9606:PKIB
gene id: 9606:PKIB
uniprot id: Q9C010
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: In isoform 2.
up seq anno comments: cAMP-dependent protein kinase inhibitor beta
up seq anno feature ids: PRO_0000154538
up seq anno feature ids: VSP_046922

9606:PBX2
gene id: 9606:PBX2
uniprot id: A0A024RCR3
uniprot id: P40425
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 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: Sequence Conflict
up seq anno comments: Homeobox
up seq anno comments: Homeobox; TALE-type
up seq anno comments: PBC
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pre-B-cell leukemia transcription factor 2
up seq anno feature ids: PRO_0000049237

9606:CMAS
gene id: 9606:CMAS
uniprot id: Q8NFW8
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: 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: Modified Residue
up seq anno labels: Motif
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: BC1 motif
up seq anno comments: BC2 motif
up seq anno comments: BC3 motif
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylmethionine
up seq anno comments: N-acylneuraminate cytidylyltransferase
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000213199
up seq anno feature ids: VSP_012764

9606:RUFY4
gene id: 9606:RUFY4
uniprot id: Q6ZNE9
up 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 labels: Binding Site
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: FYVE-type
up seq anno comments: In isoform 2.
up seq anno comments: RUN
up seq anno comments: RUN and FYVE domain-containing protein 4
up seq anno feature ids: PRO_0000284671
up seq anno feature ids: VSP_035815
up seq anno feature ids: VSP_035816

9606:CACNG8
gene id: 9606:CACNG8
uniprot id: Q8WXS5
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Voltage-dependent calcium channel gamma-8 subunit
up seq anno feature ids: PRO_0000164690

9606:CPPED1
gene id: 9606:CPPED1
uniprot id: Q9BRF8
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: 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 labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno comments: Serine/threonine-protein phosphatase CPPED1
up seq anno feature ids: PRO_0000320556
up seq anno feature ids: VAR_039204
up seq anno feature ids: VAR_039205
up seq anno feature ids: VAR_039206
up seq anno feature ids: VAR_039207
up seq anno feature ids: VSP_031658
up seq anno feature ids: VSP_055218
up seq anno feature ids: VSP_055219

9606:ACBD4
gene id: 9606:ACBD4
uniprot id: A0A0S2Z5Q0
uniprot id: A0A0S2Z5W7
uniprot id: A0A0S2Z5Y4
uniprot id: B4DJP3
uniprot id: K7EM05
uniprot id: Q8NC06
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: Secondary Structure
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: 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 labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: ACB
up seq anno comments: Acyl-CoA-binding domain-containing protein 4
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 feature ids: PRO_0000214032
up seq anno feature ids: VAR_055478
up seq anno feature ids: VAR_059109
up seq anno feature ids: VSP_014088
up seq anno feature ids: VSP_014089
up seq anno feature ids: VSP_014090

9606:HAT1
gene id: 9606:HAT1
uniprot id: O14929
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: Secondary Structure
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: 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: Complete loss of activity after pulsatile shear stress.
up seq anno comments: Histone acetyltransferase type B catalytic subunit
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform B.
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: No loss of activity after pulsatile shear stress.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by AMPK
up seq anno comments: Proton donor/acceptor
up seq anno comments: Removed
up seq anno comments: Strongly reduces HAT activity.
up seq anno feature ids: PRO_0000083902
up seq anno feature ids: VAR_035997
up seq anno feature ids: VSP_041129

9606:AP1S3
gene id: 9606:AP1S3
uniprot id: Q96PC3
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: AP-1 complex subunit sigma-3
up seq anno comments: In PSORS15; results in decreased TLR3 targeting to the endosomes indicating impaired function.
up seq anno comments: In PSORS15; results in decreased protein levels.
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_0000193801
up seq anno feature ids: VAR_072545
up seq anno feature ids: VAR_072546
up seq anno feature ids: VAR_072547
up seq anno feature ids: VAR_072548
up seq anno feature ids: VAR_072549
up seq anno feature ids: VAR_072550
up seq anno feature ids: VAR_072551
up seq anno feature ids: VAR_072552
up seq anno feature ids: VSP_015942
up seq anno feature ids: VSP_015943
up seq anno feature ids: VSP_015944
up seq anno feature ids: VSP_040384

9606:TEPP
gene id: 9606:TEPP
uniprot id: A0A140VJW9
uniprot id: Q6URK8
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
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: Testis, prostate and placenta-expressed protein
up seq anno feature ids: PRO_0000325777
up seq anno feature ids: PRO_5014247030
up seq anno feature ids: VAR_060223
up seq anno feature ids: VSP_032403

9606:TEX51
gene id: 9606:TEX51
uniprot id: A0A1B0GUA7
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
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: Testis-expressed protein 51
up seq anno feature ids: PRO_0000441046

9606:LETM2
gene id: 9606:LETM2
uniprot id: A8K1M9
uniprot id: E9PMA4
uniprot id: Q2VYF4
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 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: 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: Helical
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: LETM1 domain-containing protein LETM2, mitochondrial
up seq anno comments: LETM2_N
up seq anno comments: Letm1 RBD
up seq anno comments: Mitochondrial intermembrane
up seq anno comments: Mitochondrial matrix
up seq anno comments: Mitochondrion
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000307137
up seq anno feature ids: VSP_028588
up seq anno feature ids: VSP_028589
up seq anno feature ids: VSP_028590
up seq anno feature ids: VSP_028591

9606:DSG4
gene id: 9606:DSG4
uniprot id: Q86SJ6
up 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 labels: Chain
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 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-4
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In HYPT6.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000003855
up seq anno feature ids: PRO_0000003856
up seq anno feature ids: VAR_021291
up seq anno feature ids: VAR_024387
up seq anno feature ids: VAR_033700
up seq anno feature ids: VAR_048514
up seq anno feature ids: VSP_012907

9606:SH3BGRL2
gene id: 9606:SH3BGRL2
uniprot id: Q9UJC5
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: Secondary Structure
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Motif
up seq anno labels: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: SH3 domain-binding glutamic acid-rich-like protein 2
up seq anno comments: SH3-binding
up seq anno feature ids: PRO_0000220747

9606:ATG9B
gene id: 9606:ATG9B
uniprot id: Q674R7
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: INTRAMEM
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 labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Autophagy-related protein 9B
up seq anno comments: Cytoplasmic
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: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Tyrosine-based sorting signal
up seq anno feature ids: PRO_0000314867
up seq anno feature ids: VAR_061030
up seq anno feature ids: VSP_030410
up seq anno feature ids: VSP_030411
up seq anno feature ids: VSP_030412
up seq anno feature ids: VSP_030413

9606:MYCT1
gene id: 9606:MYCT1
uniprot id: Q8N699
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 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: Bipartite nuclear localization signal
up seq anno comments: Myc target protein 1
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000310959
up seq anno feature ids: VAR_037115
up seq anno feature ids: VAR_037116

9606:UQCRQ
gene id: 9606:UQCRQ
uniprot id: O14949
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: 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 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 b-c1 complex subunit 8
up seq anno comments: Helical
up seq anno comments: In MC3DN4.
up seq anno comments: Mitochondrial intermembrane
up seq anno comments: Mitochondrial matrix
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000193544
up seq anno feature ids: VAR_045911

9606:SDHC
gene id: 9606:SDHC
uniprot id: A0A0S2Z4B7
uniprot id: A0A0S2Z4C9
uniprot id: Q99643
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: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Non-terminal Residue
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: 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: In isoform 5.
up seq anno comments: Mitochondrial intermembrane
up seq anno comments: Mitochondrial matrix
up seq anno comments: Mitochondrion
up seq anno comments: Succinate dehydrogenase cytochrome b560 subunit, mitochondrial
up seq anno comments: axial binding residue
up seq anno feature ids: PRO_0000003634
up seq anno feature ids: PRO_5013289043
up seq anno feature ids: VSP_041381
up seq anno feature ids: VSP_041382
up seq anno feature ids: VSP_041383

9606:PCDHA3
gene id: 9606:PCDHA3
uniprot id: Q9Y5H8
up 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 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: 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: 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: PXXP 1
up seq anno comments: PXXP 2
up seq anno comments: PXXP 3
up seq anno comments: PXXP 4
up seq anno comments: PXXP 5
up seq anno comments: PXXP 6
up seq anno comments: Polar residues
up seq anno comments: Protocadherin alpha-3
up seq anno feature ids: PRO_0000003888
up seq anno feature ids: VAR_021874
up seq anno feature ids: VAR_021875
up seq anno feature ids: VAR_048524
up seq anno feature ids: VAR_048525
up seq anno feature ids: VAR_061060
up seq anno feature ids: VSP_000675
up seq anno feature ids: VSP_000676

9606:YPEL4
gene id: 9606:YPEL4
uniprot id: A0A024R4Y8
uniprot id: Q96NS1
up seq anno parent labels: Modification
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 comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Protein yippee-like 4
up seq anno comments: Yippee
up seq anno feature ids: PRO_0000212392

9606:KRT79
gene id: 9606:KRT79
uniprot id: Q5XKE5
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Sequence Variant
up seq anno comments: IF rod
up seq anno comments: Keratin, type II cytoskeletal 79
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000314893
up seq anno feature ids: VAR_038113
up seq anno feature ids: VAR_038114
up seq anno feature ids: VAR_038115
up seq anno feature ids: VAR_038116

9606:WDR20
gene id: 9606:WDR20
uniprot id: A0A088AWN2
uniprot id: Q5JPH5
uniprot id: Q8TBZ3
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: Secondary Structure
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: 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: 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:GPR62
gene id: 9606:GPR62
uniprot id: Q8TAM0
uniprot id: Q9BZJ7
up 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 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 receptor 62
up seq anno comments: G_PROTEIN_RECEP_F1_2
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 feature ids: PRO_0000069580
up seq anno feature ids: VAR_055920
up seq anno feature ids: VAR_067702
up seq anno feature ids: VAR_067703

9606:PPAT
gene id: 9606:PPAT
uniprot id: A8K4H7
uniprot id: Q06203
uniprot id: Q59G63
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: 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: 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: Pribosyltran
up seq anno feature ids: PRO_0000029283
up seq anno feature ids: PRO_0000029284

9606:MAP1LC3B2
gene id: 9606:MAP1LC3B2
uniprot id: A6NCE7
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno labels: Lipid Binding
up seq anno labels: Propeptide
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:FCER2
gene id: 9606:FCER2
uniprot id: K3W4U1
uniprot id: P06734
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: Secondary Structure
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: Helix
up seq anno labels: Lipid Binding
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: 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
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: Low affinity immunoglobulin epsilon Fc receptor membrane-bound form
up seq anno comments: Low affinity immunoglobulin epsilon Fc receptor soluble form
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: S-palmitoyl cysteine
up seq anno feature ids: PRO_0000017391
up seq anno feature ids: PRO_0000017392
up seq anno feature ids: VAR_035387
up seq anno feature ids: VAR_035388
up seq anno feature ids: VAR_069800

9606:ACAA1
gene id: 9606:ACAA1
uniprot id: A0A024R2M6
uniprot id: A0A140VJX0
uniprot id: P09110
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: Secondary Structure
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: 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: Transit Peptide
up seq anno labels: Turn
up seq anno comments: 3-ketoacyl-CoA thiolase, peroxisomal
up seq anno comments: Abolished localization to peroxisomes.
up seq anno comments: Acyl-thioester intermediate
up seq anno comments: Does not affect localization to peroxisomes.
up seq anno comments: In S3E mutant; Abolished localization to peroxisomes.
up seq anno comments: In isoform 2.
up seq anno comments: Peroxisome
up seq anno comments: Phosphothreonine
up seq anno comments: Proton acceptor
up seq anno comments: Thiolase_C
up seq anno comments: Thiolase_N
up seq anno feature ids: PRO_0000034067
up seq anno feature ids: VAR_011904
up seq anno feature ids: VAR_069148
up seq anno feature ids: VSP_046195
up seq anno feature ids: VSP_046196

9606:SSR3
gene id: 9606:SSR3
uniprot id: C9J365
uniprot id: Q9UNL2
up 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 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
up seq anno comments: In isoform 2.
up seq anno comments: Lumenal
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno comments: Translocon-associated protein subunit gamma
up seq anno feature ids: PRO_0000191690
up seq anno feature ids: VSP_056195

9606:NAA50
gene id: 9606:NAA50
uniprot id: E7EQ69
uniprot id: Q9GZZ1
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: Secondary Structure
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: 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:MIR1-1HG
gene id: 9606:MIR1-1HG
uniprot id: Q9H1L0
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno comments: Uncharacterized protein MIR1-1HG
up seq anno feature ids: PRO_0000079480
up seq anno feature ids: VAR_019655

9606:GABRQ
gene id: 9606:GABRQ
uniprot id: Q9UN88
up 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 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: Topological Domain
up seq anno labels: Transmembrane
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:INTS2
gene id: 9606:INTS2
uniprot id: Q9H0H0
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 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:STX17
gene id: 9606:STX17
uniprot id: P56962
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 labels: Chain
up seq anno labels: Coiled-Coil
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: Sequence Conflict
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Alters localization to the autophagosome; when associated with Leu-244.
up seq anno comments: Alters localization to the autophagosome; when associated with Leu-248.
up seq anno comments: Alters localization to the autophagosome; when associated with Leu-264.
up seq anno comments: Alters localization to the autophagosome; when associated with Leu-268.
up seq anno comments: Cytoplasmic
up seq anno comments: Endoplasmic reticulum retention signal
up seq anno comments: Helical
up seq anno comments: Localizes to the Golgi instead of the endoplasmic reticulum.
up seq anno comments: Lumenal
up seq anno comments: N-acetylserine
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine; by ABL1
up seq anno comments: Removed
up seq anno comments: Syntaxin-17
up seq anno comments: t-SNARE coiled-coil homology
up seq anno feature ids: PRO_0000210228

9606:SEC61A1
gene id: 9606:SEC61A1
uniprot id: B3KME8
uniprot id: B3KNF6
uniprot id: P61619
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 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: Plug_translocon
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 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:SUN2
gene id: 9606:SUN2
uniprot id: A0A024R1P7
uniprot id: B4E2A6
uniprot id: Q9UH99
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: Secondary Structure
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: 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: Decreases interaction with SYNE2.
up seq anno comments: Decreases interaction with SYNE2. Disrupts interaction with SYNE2; when associated with E-603 and E-641.
up seq anno comments: Decreases interaction with SYNE2. Disrupts interaction with SYNE2; when associated with E-603 and E-703.
up seq anno comments: Decreases interaction with SYNE2. Disrupts interaction with SYNE2; when associated with E-641 and E-703.
up seq anno comments: Decreases stability of the SUN2:SYNE2/KASH2 complex under tensile forces and inhibits force transmission through the complex.
up seq anno comments: Disrupts interaction with SYNE2, impairs localization to the nuclear envelope.
up seq anno comments: Disrupts interaction with SYNE2.
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Interchain (with C-6862 in SYNE2)
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Nuclear
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 comments: SUN
up seq anno comments: SUN domain-containing protein 2
up seq anno feature ids: PRO_0000218913
up seq anno feature ids: VAR_024624
up seq anno feature ids: VAR_052282
up seq anno feature ids: VAR_052283
up seq anno feature ids: VAR_052284
up seq anno feature ids: VSP_045882
up seq anno feature ids: VSP_053702

9606:COPS7B
gene id: 9606:COPS7B
uniprot id: A0A024R471
uniprot id: A0A024R478
uniprot id: A0A087X1P5
uniprot id: J3KQ34
uniprot id: J3KQ41
uniprot id: Q6ZTQ7
uniprot id: Q9H9Q2
up 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 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: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: COP9 signalosome complex subunit 7b
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-acetylalanine
up seq anno comments: PCI
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000120999
up seq anno feature ids: VSP_011913
up seq anno feature ids: VSP_040266

9606:POU6F2
gene id: 9606:POU6F2
uniprot id: P78424
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Homeobox
up seq anno comments: In WT5.
up seq anno comments: In isoform 2.
up seq anno comments: POU domain, class 6, transcription factor 2
up seq anno comments: POU-specific
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000100762
up seq anno feature ids: VAR_022419
up seq anno feature ids: VAR_028410
up seq anno feature ids: VAR_028411
up seq anno feature ids: VAR_028412
up seq anno feature ids: VSP_002336

9606:PCDHB1
gene id: 9606:PCDHB1
uniprot id: Q9Y5F3
up 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 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: 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: 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-1
up seq anno feature ids: PRO_0000003914
up seq anno feature ids: VAR_048541
up seq anno feature ids: VAR_048542
up seq anno feature ids: VAR_048543
up seq anno feature ids: VAR_048544
up seq anno feature ids: VAR_048545
up seq anno feature ids: VAR_048546
up seq anno feature ids: VAR_048547

9606:H1-0
gene id: 9606:H1-0
uniprot id: P07305
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: Secondary Structure
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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: ADP-ribosylserine
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Citrulline
up seq anno comments: Deamidated asparagine; partial
up seq anno comments: H15
up seq anno comments: Histone H1.0
up seq anno comments: Histone H1.0, N-terminally processed
up seq anno comments: In RNA edited version.
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylmethionine
up seq anno comments: N-acetylthreonine; partial; in Histone H1.0, N-terminally processed
up seq anno comments: Removed; alternate
up seq anno feature ids: PRO_0000195904
up seq anno feature ids: PRO_0000423207
up seq anno feature ids: VAR_054789
up seq anno feature ids: VSP_042163

9606:CNTN1
gene id: 9606:CNTN1
uniprot id: A0A024R104
uniprot id: Q12860
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: Secondary Structure
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: Turn
up seq anno comments: Contactin-1
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 serine
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: 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: N-linked (GlcNAc...) (complex) asparagine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Removed in mature form
up seq anno feature ids: PRO_0000014685
up seq anno feature ids: PRO_0000014686
up seq anno feature ids: PRO_5014214190
up seq anno feature ids: VAR_011722
up seq anno feature ids: VAR_035506
up seq anno feature ids: VAR_049866
up seq anno feature ids: VSP_002500
up seq anno feature ids: VSP_011959
up seq anno feature ids: VSP_011960

9606:PDE12
gene id: 9606:PDE12
uniprot id: F6T1Q0
uniprot id: Q6L8Q7
up 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: 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: 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',5'-phosphodiesterase 12
up seq anno comments: Endo/exonuclease/phosphatase
up seq anno comments: In isoform 2.
up seq anno comments: Mitochondrion
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Proton donor/acceptor
up seq anno feature ids: PRO_0000324312
up seq anno feature ids: VAR_039698
up seq anno feature ids: VSP_032202
up seq anno feature ids: VSP_032203

9606:FAM72A
gene id: 9606:FAM72A
uniprot id: Q5TYM5
uniprot id: U3KPW2
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: Loss of UNG-binding.
up seq anno comments: Protein FAM72A
up seq anno feature ids: PRO_0000340256
up seq anno feature ids: VSP_034205

9606:CRLF3
gene id: 9606:CRLF3
uniprot id: Q8IUI8
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 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 Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Cytokine receptor-like factor 3
up seq anno comments: Fibronectin type-III
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylmethionine
up seq anno feature ids: PRO_0000288936
up seq anno feature ids: VAR_032539
up seq anno feature ids: VAR_049180
up seq anno feature ids: VSP_044648

9606:TRABD2A
gene id: 9606:TRABD2A
uniprot id: C9IYB5
uniprot id: Q86V40
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 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: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Metalloprotease TIKI
up seq anno comments: Metalloprotease TIKI1
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000325807
up seq anno feature ids: PRO_5002997061
up seq anno feature ids: VAR_039920
up seq anno feature ids: VAR_039921
up seq anno feature ids: VAR_039922
up seq anno feature ids: VSP_038837

9606:LCN6
gene id: 9606:LCN6
uniprot id: A0A024R8I9
uniprot id: P62502
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: Signal Peptide
up seq anno comments: Epididymal-specific lipocalin-6
up seq anno comments: Lipocln_cytosolic_FA-bd_dom
up seq anno feature ids: PRO_0000017914
up seq anno feature ids: PRO_5033208549

9606:PCDH9
gene id: 9606:PCDH9
uniprot id: A7E2D9
uniprot id: B7ZM79
uniprot id: Q5VT82
uniprot id: Q9HC56
uniprot id: X5D7N0
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: Secondary Structure
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: 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: 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: Cadherin 7
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: Polar residues
up seq anno comments: Protocadherin-9
up seq anno feature ids: PRO_0000003994
up seq anno feature ids: PRO_5002708111
up seq anno feature ids: PRO_5004955333
up seq anno feature ids: PRO_5014568446
up seq anno feature ids: PRO_5014587121
up seq anno feature ids: VSP_035430

9606:PTPRQ
gene id: 9606:PTPRQ
uniprot id: A0A087WZU1
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: Signal Peptide
up seq anno labels: Transmembrane
up seq anno comments: Fibronectin type-III
up seq anno comments: Helical
up seq anno comments: TYR_PHOSPHATASE_2
up seq anno comments: Tyrosine-protein phosphatase
up seq anno comments: protein-tyrosine-phosphatase
up seq anno feature ids: PRO_5001832099

9606:TRIM47
gene id: 9606:TRIM47
uniprot id: Q96LD4
up 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: 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: 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 TRIM47
up seq anno comments: In isoform 2.
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: Pro residues
up seq anno comments: RING-type
up seq anno feature ids: PRO_0000056270
up seq anno feature ids: VAR_057223
up seq anno feature ids: VSP_055440

9606:SPIC
gene id: 9606:SPIC
uniprot id: Q8N5J4
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 comments: ETS
up seq anno comments: Transcription factor Spi-C
up seq anno feature ids: PRO_0000204140

9606:ARHGEF11
gene id: 9606:ARHGEF11
uniprot id: O15085
up 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 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: 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: In isoform 2.
up seq anno comments: PDZ
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: RGSL
up seq anno comments: Rho guanine nucleotide exchange factor 11
up seq anno feature ids: PRO_0000080928
up seq anno feature ids: VAR_024285
up seq anno feature ids: VAR_061795
up seq anno feature ids: VSP_042003

9606:HTRA3
gene id: 9606:HTRA3
uniprot id: P83110
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: Secondary Structure
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: Helix
up seq anno labels: Mutagenesis Site
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 protease activity. Stabilizes the protein.
up seq anno comments: Charge relay system
up seq anno comments: IGFBP N-terminal
up seq anno comments: In isoform 2.
up seq anno comments: Kazal-like
up seq anno comments: PDZ
up seq anno comments: Serine protease HTRA3
up seq anno feature ids: PRO_0000026949
up seq anno feature ids: VSP_012570
up seq anno feature ids: VSP_012571

9606:B4GALT3
gene id: 9606:B4GALT3
uniprot id: A0A384NY44
uniprot id: A8K5Z0
uniprot id: O60512
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: 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: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Beta-1,4-galactosyltransferase 3
up seq anno comments: Cytoplasmic
up seq anno comments: Glyco_transf_7C
up seq anno comments: Glyco_transf_7N
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_0000080537
up seq anno feature ids: VSP_014106
up seq anno feature ids: VSP_014107

9606:NRF1
gene id: 9606:NRF1
uniprot id: A0A024R770
uniprot id: A0A024R774
uniprot id: Q16656
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 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: Motif
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
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: In isoform 4.
up seq anno comments: In isoform Short.
up seq anno comments: Nrf1_DNA-bind
up seq anno comments: Nuclear localization signal
up seq anno comments: Nuclear respiratory factor 1
up seq anno comments: Phosphoserine; by CK2
up seq anno feature ids: PRO_0000100208
up seq anno feature ids: VSP_003598
up seq anno feature ids: VSP_054330
up seq anno feature ids: VSP_054331

9606:HRC
gene id: 9606:HRC
uniprot id: P23327
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
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: 2-5
up seq anno comments: 2-6
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by FAM20C
up seq anno comments: Phosphothreonine; by FAM20C
up seq anno comments: Sarcoplasmic reticulum histidine-rich calcium-binding protein
up seq anno feature ids: PRO_0000022414
up seq anno feature ids: VAR_005623
up seq anno feature ids: VAR_011622
up seq anno feature ids: VAR_021931

9606:CFC1
gene id: 9606:CFC1
uniprot id: A0A087WWV2
uniprot id: A0A087WX98
uniprot id: P0CG37
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 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: 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 comments: Cryptic protein
up seq anno comments: Does not affect the cellular localization and the biological activity.
up seq anno comments: EGF-like
up seq anno comments: GPI-anchor amidated aspartate
up seq anno comments: In HTX2; complete loss of activity; abnormal cell surface localization.
up seq anno comments: Increased NODAL dependent signaling.
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_0000044630
up seq anno feature ids: PRO_0000395407
up seq anno feature ids: PRO_5001831989
up seq anno feature ids: PRO_5001832024
up seq anno feature ids: VAR_024322
up seq anno feature ids: VAR_024323
up seq anno feature ids: VAR_024324

9606:HMCN1
gene id: 9606:HMCN1
uniprot id: Q96RW7
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 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: 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: 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: Hemicentin-1
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 13
up seq anno comments: Ig-like C2-type 14
up seq anno comments: Ig-like C2-type 15
up seq anno comments: Ig-like C2-type 16
up seq anno comments: Ig-like C2-type 17
up seq anno comments: Ig-like C2-type 18
up seq anno comments: Ig-like C2-type 19
up seq anno comments: Ig-like C2-type 2
up seq anno comments: Ig-like C2-type 20
up seq anno comments: Ig-like C2-type 21
up seq anno comments: Ig-like C2-type 22
up seq anno comments: Ig-like C2-type 23
up seq anno comments: Ig-like C2-type 24
up seq anno comments: Ig-like C2-type 25
up seq anno comments: Ig-like C2-type 26
up seq anno comments: Ig-like C2-type 27
up seq anno comments: Ig-like C2-type 28
up seq anno comments: Ig-like C2-type 29
up seq anno comments: Ig-like C2-type 3
up seq anno comments: Ig-like C2-type 30
up seq anno comments: Ig-like C2-type 31
up seq anno comments: Ig-like C2-type 32
up seq anno comments: Ig-like C2-type 33
up seq anno comments: Ig-like C2-type 34
up seq anno comments: Ig-like C2-type 35
up seq anno comments: Ig-like C2-type 36
up seq anno comments: Ig-like C2-type 37
up seq anno comments: Ig-like C2-type 38
up seq anno comments: Ig-like C2-type 39
up seq anno comments: Ig-like C2-type 4
up seq anno comments: Ig-like C2-type 40
up seq anno comments: Ig-like C2-type 41
up seq anno comments: Ig-like C2-type 42
up seq anno comments: Ig-like C2-type 43
up seq anno comments: Ig-like C2-type 44
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 ARMD1.
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: Nidogen G2 beta-barrel
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: VWFA
up seq anno feature ids: PRO_0000045391

9606:PYDC2
gene id: 9606:PYDC2
uniprot id: Q56P42
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Variant
up seq anno comments: Pyrin
up seq anno comments: Pyrin domain-containing protein 2
up seq anno feature ids: PRO_0000348427
up seq anno feature ids: VAR_046150

9606:MIEN1
gene id: 9606:MIEN1
uniprot id: Q9BRT3
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: Secondary Structure
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
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: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes prenylation. Predominantly cysolic with little plasma membrane-associated expression. Reduces cell migration by affecting filopodia formation.
up seq anno comments: Migration and invasion enhancer 1
up seq anno comments: N-acetylserine
up seq anno comments: No effect on subcellular location. Low protein abundance, suggesting that stability is affected.
up seq anno comments: Redox-active
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_0000265099
up seq anno feature ids: PRO_0000396008

9606:WIF1
gene id: 9606:WIF1
uniprot id: Q9Y5W5
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 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: 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: 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: N-linked (GlcNAc...) asparagine
up seq anno comments: WIF
up seq anno comments: Wnt inhibitory factor 1
up seq anno feature ids: PRO_0000007775

9606:SHF
gene id: 9606:SHF
uniprot id: B3KTY1
uniprot id: B4DWP8
uniprot id: B4E1A9
uniprot id: H0YLM1
up seq anno parent labels: Region
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno comments: Basic and acidic residues
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: SH2

9606:TERT
gene id: 9606:TERT
uniprot id: O14746
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: Secondary Structure
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: 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: Abolishes oxidative stress-induced phosphorylation and RAN binding. Impaired nuclear export and enhanced antiapoptotic activity against ROS-dependent apoptosis induction. Impaired interaction with PTPN11. No dephosphorylation by PTPN11.
up seq anno comments: Abolishes phosphorylation by DYRK2.
up seq anno comments: Abolishes telomerase catalytic activity.
up seq anno comments: About 75% reduction in telomerase activity, about 50% reduction in repeat extension rate and 5.2-fold increase in nucleotide incorporation fidelity. Little further reduction in activity and 13.5-fold increase in nucleotide incorporation fidelity; when associated with Y-866.
up seq anno comments: About 75% reduction in telomerase activity, about 80% reduction in repeat reduction rate and 3.9-fold increase in nucleotide incorporation fidelity.
up seq anno comments: About 80% loss of enzymatic activity. Greatly reduced incorporation of second nucleotide. Altered strength of binding to ssDNA. Little effect on repeat addition processivity, nor on TR interaction nor on protein levels.
up seq anno comments: About 85% loss of enzymatic activity. Greatly reduced incorporation of second nucleotide. Altered strength of binding to ssDNA. No effect on protein levels nor on TR interaction.
up seq anno comments: About 90% loss of enzymatic activity. Greatly reduced incorporation of second nucleotide. Altered strength of binding to ssDNA. No effect on protein levels nor on TR interaction.
up seq anno comments: Associated with acute myeloid leukemia.
up seq anno comments: Bipartite nuclear localization signal
up seq anno comments: Completely abolishes telomerase-mediated primer extension and reduced binding to short telomeric primers. Complete loss of catalytic activity but no further loss of binding to telomeric primers; when associated with 137-A--A-141.
up seq anno comments: Defective in high-affinity TERC interactions.
up seq anno comments: In AA.
up seq anno comments: In AA; abolishes telomerase catalytic activity but no effect on binding to TERC.
up seq anno comments: In AA; associated with susceptibility to acute myeloid leukemia.
up seq anno comments: In AA; non-severe; abolishes telomerase catalytic activity but little effect on binding to TERC.
up seq anno comments: In AA; very severe; no effect on telomerase catalytic activity but shortened telomeres.
up seq anno comments: In DKCA2; abolishes telomerase catalytic activity but no effect on binding to TERC.
up seq anno comments: In DKCA2; severe; shortened telomeres but no effect on telomerase catalytic activity nor on binding to TERC.
up seq anno comments: In DKCA2; shortened telomeres but no effect on telomerase catalytic activity nor on binding to TERC.
up seq anno comments: In DKCB4; 50% reduction in telomerase activity.
up seq anno comments: In DKCB4; no effect on telomerase catalytic activity and little effect on binding to TERC.
up seq anno comments: In DKCB4; severe phenotype overlapping with Hoyeraal-Hreidarsson syndrome; very short telomeres and greatly reduced telomerase activity.
up seq anno comments: In DKCB4; the mutant protein has 13% residual activity.
up seq anno comments: In PFBMFT1 and AA; moderate.
up seq anno comments: In PFBMFT1 and AA; severe and moderate; associated with disease susceptibility; shorter telomeres.
up seq anno comments: In PFBMFT1, AA and DKCB4; severe and moderate; associated with susceptibility to acute myelogenous leukemia; the mutant protein has 36% residual activity.
up seq anno comments: In PFBMFT1.
up seq anno comments: In PFBMFT1; associated with Ile-791 in cis on the same allele; the double mutant shows severe defects in telomere repeat addition processivity; this mutation causes most if not all of the functional defects.
up seq anno comments: In PFBMFT1; associated with Met-867 in cis on the same allele; the double mutant shows severe defects in telomere repeat addition processivity.
up seq anno comments: In PFBMFT1; impaired telomerase activity.
up seq anno comments: In PFBMFT1; moderate.
up seq anno comments: In PFBMFT1; severe.
up seq anno comments: In PFBMFT1; the mutant protein is demonstrated to cause decreased telomerase activity.
up seq anno comments: In PFBMFT1; the mutant protein is demonstrated to cause severely compromised telomerase activity.
up seq anno comments: In PFBMFT1; unknown pathological significance; impaired telomerase 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: Increased incidence in sporadic acute myeloid leukemia.
up seq anno comments: Loss of telomerase activity.
up seq anno comments: Loss of telomerase activity. In the absence of TR, no loss of binding to telomeric primers.
up seq anno comments: Moderate reduction in telomerase activity, no change in repeat extension rate nor on nucleotide incorporation fidelity. Little further reduction in activity but 13.5-fold increase in nucleotide incorporation fidelity; when associated with M-867.
up seq anno comments: Phosphoserine; by DYRK2
up seq anno comments: Phosphoserine; by PKB/AKT1
up seq anno comments: Phosphotyrosine; by SRC-type Tyr-kinases
up seq anno comments: Reduced catalytic activity and repeat addition processivity. Complete loss of catalytic activity but no loss of binding to telomeric primers; when associated with 930-A--A-934.
up seq anno comments: Reverse transcriptase
up seq anno comments: Severe reduction in telomerase activity, about 50% reduction in repeat extension rate and 2.2-fold increase in nucleotide incorporation fidelity. No further reduction in activity but 2.8-fold increase in nucleotide incorporation fidelity; when associated with Y-866.
up seq anno comments: TFLY; involved in RNA binding
up seq anno comments: Telomerase reverse transcriptase
up seq anno feature ids: PRO_0000054925
up seq anno feature ids: VAR_025149
up seq anno feature ids: VAR_025150
up seq anno feature ids: VAR_036863
up seq anno feature ids: VAR_036864
up seq anno feature ids: VAR_036865
up seq anno feature ids: VAR_036866
up seq anno feature ids: VAR_036867

9606:OFD1
gene id: 9606:OFD1
uniprot id: A6NF31
uniprot id: E9KL37
uniprot id: O75665
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 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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Centriole and centriolar satellite protein OFD1
up seq anno comments: In JBTS10; unknown pathological significance.
up seq anno comments: In OFD1.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Increased protein stability.
up seq anno comments: LisH
up seq anno comments: Loss of phosphorylation by PKA. Loss of cAMP-dependent interaction with TBC1D31. Loss of ubiquitin-mediated proteasomal degradation. Loss of function in cilium assembly. Dominant negative effect.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PKA
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000058029
up seq anno feature ids: VAR_013753
up seq anno feature ids: VAR_013754
up seq anno feature ids: VAR_015574
up seq anno feature ids: VAR_030789
up seq anno feature ids: VAR_058758
up seq anno feature ids: VAR_069100
up seq anno feature ids: VAR_075701
up seq anno feature ids: VSP_004177
up seq anno feature ids: VSP_004178
up seq anno feature ids: VSP_023334

9606:ANKRD52
gene id: 9606:ANKRD52
uniprot id: B3KWN0
uniprot id: Q8NB46
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno comments: ANK
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 26
up seq anno comments: ANK 27
up seq anno comments: ANK 28
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: Basic and acidic residues
up seq anno comments: Phosphoserine
up seq anno comments: Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit C
up seq anno feature ids: PRO_0000244587

9606:ZSCAN5B
gene id: 9606:ZSCAN5B
uniprot id: A6NJL1
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: 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 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: Polar residues
up seq anno comments: SCAN box
up seq anno comments: Zinc finger and SCAN domain-containing protein 5B
up seq anno feature ids: PRO_0000332169
up seq anno feature ids: VAR_042965
up seq anno feature ids: VAR_042966
up seq anno feature ids: VAR_042967
up seq anno feature ids: VAR_042968
up seq anno feature ids: VAR_042969

9606:SLC44A5
gene id: 9606:SLC44A5
uniprot id: B7Z5Y4
uniprot id: Q8NCS7
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation 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: Basic and acidic residues
up seq anno comments: Choline transporter-like protein 5
up seq anno comments: Cytoplasmic
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 3.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000191726
up seq anno feature ids: VSP_059802
up seq anno feature ids: VSP_059803

9606:ST13
gene id: 9606:ST13
uniprot id: A0A140VKA6
uniprot id: B4E0U6
uniprot id: P50502
uniprot id: Q0IJ56
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 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: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: HipN
up seq anno comments: Hsc70-interacting protein
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine; by GRK5
up seq anno comments: STI1
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 feature ids: PRO_0000190811
up seq anno feature ids: VAR_011900

9606:L3HYPDH
gene id: 9606:L3HYPDH
uniprot id: Q96EM0
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: Site
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 comments: Proton acceptor
up seq anno comments: Regains racemase activity, catalyzing the conversion of trans-3-hydroxy-L-proline to cis-3-hydroxy-D-proline. Also catalyzes racemization of L-proline to D-proline, albeit at a very low level. Has lost its original dehydratase activity.
up seq anno comments: Trans-3-hydroxy-L-proline dehydratase
up seq anno feature ids: PRO_0000288949
up seq anno feature ids: VAR_032540
up seq anno feature ids: VAR_032541
up seq anno feature ids: VAR_032542
up seq anno feature ids: VAR_062192

9606:RHOBTB3
gene id: 9606:RHOBTB3
uniprot id: O94955
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 labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno comments: Abolishes ATP-binding.
up seq anno comments: Abolishes interaction with RAB9A.
up seq anno comments: BTB 1
up seq anno comments: BTB 2
up seq anno comments: Does not affect subcellular location, suggesting this protein is not prenylated.
up seq anno comments: Rho-related BTB domain-containing protein 3
up seq anno feature ids: PRO_0000198964
up seq anno feature ids: VAR_018481
up seq anno feature ids: VAR_018482
up seq anno feature ids: VAR_030490

9606:EIF3CL
gene id: 9606:EIF3CL
uniprot id: A0A024QYX7
uniprot id: B5ME19
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: Modified Residue
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Eukaryotic translation initiation factor 3 subunit C-like protein
up seq anno comments: N6-acetyllysine
up seq anno comments: PCI
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000422825

9606:PGBD4
gene id: 9606:PGBD4
uniprot id: Q96DM1
up seq anno parent labels: Experimental Information
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: Sequence Conflict
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: PiggyBac transposable element-derived protein 4
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000288055

9606:HPR
gene id: 9606:HPR
uniprot id: P00739
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 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: Haptoglobin-related protein
up seq anno comments: In isoform 2.
up seq anno comments: Not cleaved
up seq anno comments: Peptidase S1
up seq anno comments: Sushi
up seq anno feature ids: PRO_0000028486
up seq anno feature ids: VAR_014571
up seq anno feature ids: VAR_057161
up seq anno feature ids: VAR_057162
up seq anno feature ids: VAR_057163
up seq anno feature ids: VAR_057164
up seq anno feature ids: VAR_057165
up seq anno feature ids: VAR_059789
up seq anno feature ids: VSP_014529

9606:KCNMB1
gene id: 9606:KCNMB1
uniprot id: Q16558
up 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 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: Calcium-activated potassium channel subunit beta-1
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Has a protective effect against diastolic hypertension.
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000187046
up seq anno feature ids: VAR_019325
up seq anno feature ids: VAR_047009
up seq anno feature ids: VSP_009822
up seq anno feature ids: VSP_009823

9606:STAU1
gene id: 9606:STAU1
uniprot id: B3KRE0
uniprot id: O95793
uniprot id: Q59F99
uniprot id: Q6PJX3
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: Secondary Structure
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: 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: 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:POC1B-GALNT4
gene id: 9606:POC1B-GALNT4
uniprot id: F8VUJ3
uniprot id: Q8N4A0
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: Secondary Structure
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: Helix
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: Affects the glycopeptide specificity and abolishes ability to glycosylate Muc1, Muc2 and Muc5AC.
up seq anno comments: Basic and acidic residues
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: Polypeptide N-acetylgalactosaminyltransferase 4
up seq anno comments: RICIN
up seq anno comments: Ricin B-type lectin
up seq anno feature ids: PRO_0000059108
up seq anno feature ids: VAR_019576
up seq anno feature ids: VAR_019577
up seq anno feature ids: VAR_065257
up seq anno feature ids: VSP_045009
up seq anno feature ids: VSP_045010

9606:POU4F2
gene id: 9606:POU4F2
uniprot id: Q12837
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 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: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Absent from nuclear speckle; no change in transcriptional activity.
up seq anno comments: Basic residues
up seq anno comments: Homeobox
up seq anno comments: In isoform 2.
up seq anno comments: Nuclear speckle targeting signal
up seq anno comments: POU domain, class 4, transcription factor 2
up seq anno comments: POU-IV box
up seq anno comments: POU-specific
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000100740
up seq anno feature ids: VAR_059321
up seq anno feature ids: VSP_058837

9606:GALNT5
gene id: 9606:GALNT5
uniprot id: Q7Z7M9
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: 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: 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: In a breast cancer sample; somatic mutation.
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: Polypeptide N-acetylgalactosaminyltransferase 5
up seq anno comments: Ricin B-type lectin
up seq anno feature ids: PRO_0000059110
up seq anno feature ids: VAR_019578
up seq anno feature ids: VAR_019579
up seq anno feature ids: VAR_035991
up seq anno feature ids: VAR_035992

9606:RAB3IL1
gene id: 9606:RAB3IL1
uniprot id: Q8TBN0
up 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 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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Guanine nucleotide exchange factor for Rab-3A
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000305295
up seq anno feature ids: VAR_035203
up seq anno feature ids: VAR_035204
up seq anno feature ids: VSP_028344
up seq anno feature ids: VSP_028345

9606:COL4A5
gene id: 9606:COL4A5
uniprot id: A7MBN3
uniprot id: P29400
uniprot id: Q49AM6
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: Secondary Structure
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: 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: Collagen IV NC1
up seq anno comments: Collagen alpha-5(IV) chain
up seq anno comments: In ATS1.
up seq anno comments: In ATS1; adult and juvenile types.
up seq anno comments: In ATS1; adult type.
up seq anno comments: In ATS1; found on the same allele as variant Glu-1211.
up seq anno comments: In ATS1; found on the same allele as variant Val-953.
up seq anno comments: In ATS1; juvenile and adult types.
up seq anno comments: In ATS1; juvenile type.
up seq anno comments: In ATS1; juvenile type; unknown pathological significance.
up seq anno comments: In ATS1; mild phenotype.
up seq anno comments: In ATS1; presenting with dot-and-fleck retinopathy.
up seq anno comments: In isoform 2.
up seq anno comments: Interchain
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Or C-1476 with C-1564
up seq anno comments: Or C-1509 with C-1567
up seq anno comments: Or C-1586 with C-1678
up seq anno comments: Or C-1620 with C-1681
up seq anno comments: Pro residues
up seq anno comments: S-Lysyl-methionine sulfilimine (Lys-Met) (interchain with M-1549)
up seq anno comments: S-Lysyl-methionine sulfilimine (Met-Lys) (interchain with K-1667)
up seq anno feature ids: PRO_0000005852
up seq anno feature ids: PRO_5005660708
up seq anno feature ids: VAR_001914
up seq anno feature ids: VAR_001915
up seq anno feature ids: VAR_001916
up seq anno feature ids: VAR_001917
up seq anno feature ids: VAR_001918
up seq anno feature ids: VAR_001919
up seq anno feature ids: VAR_001920
up seq anno feature ids: VAR_001921
up seq anno feature ids: VAR_001922
up seq anno feature ids: VAR_001923
up seq anno feature ids: VAR_001924
up seq anno feature ids: VAR_001925
up seq anno feature ids: VAR_001926
up seq anno feature ids: VAR_001927
up seq anno feature ids: VAR_001928
up seq anno feature ids: VAR_001929
up seq anno feature ids: VAR_001930
up seq anno feature ids: VAR_001931
up seq anno feature ids: VAR_001932
up seq anno feature ids: VAR_001933
up seq anno feature ids: VAR_001934
up seq anno feature ids: VAR_001935
up seq anno feature ids: VAR_001936
up seq anno feature ids: VAR_001937
up seq anno feature ids: VAR_001938
up seq anno feature ids: VAR_001939
up seq anno feature ids: VAR_001940
up seq anno feature ids: VAR_001941
up seq anno feature ids: VAR_001942
up seq anno feature ids: VAR_001943
up seq anno feature ids: VAR_001944
up seq anno feature ids: VAR_001945

9606:TMTC2
gene id: 9606:TMTC2
uniprot id: B7Z639
uniprot id: F8VSH2
uniprot id: Q8N394
up 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 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: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Protein O-mannosyl-transferase TMTC2
up seq anno comments: TMTC_DUF1736
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:RBM41
gene id: 9606:RBM41
uniprot id: A0A8I5KYC8
uniprot id: Q96IZ5
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: Secondary Structure
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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
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: RNA-binding protein 41
up seq anno comments: RRM
up seq anno feature ids: PRO_0000256267
up seq anno feature ids: VAR_028897
up seq anno feature ids: VSP_021346
up seq anno feature ids: VSP_021347
up seq anno feature ids: VSP_021348
up seq anno feature ids: VSP_021349

9606:BTBD9
gene id: 9606:BTBD9
uniprot id: Q96Q07
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
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 9
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_0000186217
up seq anno feature ids: VSP_042543
up seq anno feature ids: VSP_042544
up seq anno feature ids: VSP_044247

9606:DEFB114
gene id: 9606:DEFB114
uniprot id: Q30KQ6
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno comments: Beta-defensin 114
up seq anno feature ids: PRO_0000045342

9606:DNAJC5B
gene id: 9606:DNAJC5B
uniprot id: A0A024R7Z1
uniprot id: Q9UF47
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 labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno comments: DnaJ homolog subfamily C member 5B
up seq anno comments: J
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000071055

9606:ARPIN
gene id: 9606:ARPIN
uniprot id: Q7Z6K5
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Arpin
up seq anno comments: In isoform C15orf38-AP3S2.
up seq anno feature ids: PRO_0000244265
up seq anno feature ids: VSP_047416

9606:NCOA5
gene id: 9606:NCOA5
uniprot id: Q9HCD5
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: Secondary Structure
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: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes E2-inducible strong interaction with ESR1, but not basal interaction.
up seq anno comments: Abolishes interaction with ESR1.
up seq anno comments: Basic and acidic residues
up seq anno comments: LXXLL motif
up seq anno comments: N-acetylmethionine
up seq anno comments: Nuclear receptor coactivator 5
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000094411
up seq anno feature ids: VAR_053530

9606:OR13F1
gene id: 9606:OR13F1
uniprot id: Q8NGS4
up 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 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 13F1
up seq anno feature ids: PRO_0000150738
up seq anno feature ids: VAR_024137
up seq anno feature ids: VAR_034309
up seq anno feature ids: VAR_034310
up seq anno feature ids: VAR_034311
up seq anno feature ids: VAR_053302
up seq anno feature ids: VAR_053303

9606:INCENP
gene id: 9606:INCENP
uniprot id: Q9NQS7
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: Secondary Structure
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: 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: In isoform 2.
up seq anno comments: Inner centromere protein
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 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:TBC1D3H
gene id: 9606:TBC1D3H
uniprot id: P0C7X1
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: Lipid Binding
up seq anno comments: Pro residues
up seq anno comments: Rab-GAP TBC
up seq anno comments: S-palmitoyl cysteine
up seq anno comments: TBC1 domain family member 3H
up seq anno feature ids: PRO_0000344624

9606:NKAIN1
gene id: 9606:NKAIN1
uniprot id: Q4KMZ8
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 labels: Chain
up seq anno labels: Glycosylation Site
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: 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: Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 1
up seq anno feature ids: PRO_0000412169
up seq anno feature ids: VSP_056113
up seq anno feature ids: VSP_056114

9606:ASCC2
gene id: 9606:ASCC2
uniprot id: A0A024R1E1
uniprot id: A0A024R1F9
uniprot id: Q9H1I8
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: Secondary Structure
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: 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: Activating signal cointegrator 1 complex subunit 2
up seq anno comments: Basic and acidic residues
up seq anno comments: CUE
up seq anno comments: Decreases ubiquitin binding.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of ubiquitin binding.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000064689
up seq anno feature ids: VAR_019464
up seq anno feature ids: VAR_025512
up seq anno feature ids: VAR_025513
up seq anno feature ids: VAR_025514
up seq anno feature ids: VAR_050675
up seq anno feature ids: VAR_050676
up seq anno feature ids: VAR_050677
up seq anno feature ids: VAR_050678
up seq anno feature ids: VSP_011009
up seq anno feature ids: VSP_011010
up seq anno feature ids: VSP_011011
up seq anno feature ids: VSP_045878
up seq anno feature ids: VSP_045879

9606:OR52J3
gene id: 9606:OR52J3
uniprot id: Q8NH60
up 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 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 52J3
up seq anno feature ids: PRO_0000150780
up seq anno feature ids: VAR_034343
up seq anno feature ids: VAR_034344
up seq anno feature ids: VAR_034345
up seq anno feature ids: VAR_034346

9606:PIN1
gene id: 9606:PIN1
uniprot id: Q13526
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 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: Strand
up seq anno labels: Turn
up seq anno comments: Loss of binding to phosphorylated target proteins, including to phosphorylated RBBP8/CtIP; decrease in DNA repair of double-strand breaks by homologous recombination less efficient than that observed with wild-type protein. Abolishes interaction with IRAK3/IRAK-M. Abolishes IL33-mediated increase of IRAK3/IRAK-M protein levels.
up seq anno comments: Loss of peptidyl-prolyl cis/trans isomerase activity, nuclear localization and cellular function.
up seq anno comments: Loss of peptidyl-prolyl cis/trans isomerase activity. No effect on the interaction with IRAK3/IRAK-M. Abolishes IL33-mediated increase of IRAK3/IRAK-M protein levels.
up seq anno comments: Loss of peptidyl-prolyl cis/trans isomerase activity; decrease in DNA repair of double-strand breaks by homologous recombination slightly less efficient than that observed with wild-type protein. No effect on RBBP8/CtIP.
up seq anno comments: N6-acetyllysine
up seq anno comments: Peptidyl-prolyl cis-trans isomerase NIMA-interacting 1
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by DAPK1
up seq anno comments: Polar residues
up seq anno comments: PpiC
up seq anno comments: Reduced affinity for KIF20B.
up seq anno comments: WW
up seq anno feature ids: PRO_0000193435

9606:TSC22D3
gene id: 9606:TSC22D3
uniprot id: Q99576
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 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: In isoform 4.
up seq anno comments: Phosphoserine
up seq anno comments: TSC22 domain family protein 3
up seq anno feature ids: PRO_0000219370
up seq anno feature ids: VSP_012689
up seq anno feature ids: VSP_061579

9606:CATSPER2
gene id: 9606:CATSPER2
uniprot id: F8W9H2
uniprot id: Q96P56
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
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: Basic and acidic residues
up seq anno comments: Cation channel sperm-associated protein 2
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
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 S4
up seq anno comments: Helical; Name=Segment S5
up seq anno comments: Helical; Name=Segment S6
up seq anno comments: Helical; Pore-forming
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: Ion_trans
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000295676
up seq anno feature ids: VAR_033307
up seq anno feature ids: VAR_033308
up seq anno feature ids: VSP_026973
up seq anno feature ids: VSP_026974
up seq anno feature ids: VSP_026975
up seq anno feature ids: VSP_026976
up seq anno feature ids: VSP_026977

9606:BAIAP2L2
gene id: 9606:BAIAP2L2
uniprot id: Q6UXY1
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 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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 2
up seq anno comments: IMD
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: SH3
up seq anno feature ids: PRO_0000256130
up seq anno feature ids: VSP_021324

9606:LONRF1
gene id: 9606:LONRF1
uniprot id: Q17RB8
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 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: 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: 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:EXOSC3
gene id: 9606:EXOSC3
uniprot id: Q9NQT5
uniprot id: Q9NYS3
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: 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: 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: Exosome complex component RRP40
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In PCH1B.
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylalanine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000087131
up seq anno feature ids: VAR_054098
up seq anno feature ids: VAR_068505
up seq anno feature ids: VAR_068506
up seq anno feature ids: VAR_068507
up seq anno feature ids: VAR_068508
up seq anno feature ids: VAR_074169
up seq anno feature ids: VSP_043457

9606:RPL19
gene id: 9606:RPL19
uniprot id: J3KTE4
uniprot id: P84098
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: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno comments: 60S ribosomal protein L19
up seq anno comments: Citrulline
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Ribosomal_L19e
up seq anno feature ids: PRO_0000131169

9606:SLCO2A1
gene id: 9606:SLCO2A1
uniprot id: Q92959
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: Secondary Structure
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:LRP8
gene id: 9606:LRP8
uniprot id: Q14114
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: Secondary Structure
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: 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: 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 susceptibility to myocardial infarction type 1; increases activation of MAPK14 by oxidized low density lipoprotein.
up seq anno comments: Cytoplasmic
up seq anno comments: EGF-like 1
up seq anno comments: EGF-like 2; calcium-binding
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 4.
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: LDL-receptor class A 5
up seq anno comments: LDL-receptor class A 6
up seq anno comments: LDL-receptor class A 7
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: Low-density lipoprotein receptor-related protein 8
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000017332
up seq anno feature ids: VAR_018468
up seq anno feature ids: VAR_018469
up seq anno feature ids: VAR_037624
up seq anno feature ids: VAR_037625
up seq anno feature ids: VAR_037626
up seq anno feature ids: VAR_037627
up seq anno feature ids: VAR_037628
up seq anno feature ids: VAR_046974
up seq anno feature ids: VAR_059079
up seq anno feature ids: VSP_010305
up seq anno feature ids: VSP_010306
up seq anno feature ids: VSP_010307
up seq anno feature ids: VSP_010308
up seq anno feature ids: VSP_038181

9606:OR10H1
gene id: 9606:OR10H1
uniprot id: A0A126GVU5
uniprot id: Q9Y4A9
up 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 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_RECEP_F1_2
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 10H1
up seq anno feature ids: PRO_0000150702
up seq anno feature ids: VAR_024127
up seq anno feature ids: VAR_054124
up seq anno feature ids: VAR_054125

9606:MTUS2
gene id: 9606:MTUS2
uniprot id: Q5JR59
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 labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
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: Microtubule-associated tumor suppressor candidate 2
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000280111
up seq anno feature ids: VAR_055941
up seq anno feature ids: VAR_058831
up seq anno feature ids: VSP_023540
up seq anno feature ids: VSP_023541
up seq anno feature ids: VSP_023543

9606:ZNF134
gene id: 9606:ZNF134
uniprot id: P52741
uniprot id: Q5U5N5
up 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 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:UBA6
gene id: 9606:UBA6
uniprot id: A0AVT1
uniprot id: A1LT96
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: 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: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Glycyl thioester intermediate
up seq anno comments: Impairs ubiquitin activation.
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: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: UBA_e1_C
up seq anno comments: Ubiquitin-like modifier-activating enzyme 6
up seq anno feature ids: PRO_0000277797
up seq anno feature ids: VAR_030594
up seq anno feature ids: VSP_023083
up seq anno feature ids: VSP_023084
up seq anno feature ids: VSP_023085
up seq anno feature ids: VSP_023086
up seq anno feature ids: VSP_023087

9606:BDNF
gene id: 9606:BDNF
uniprot id: A0A0E3SU01
uniprot id: P23560
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: Secondary Structure
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: 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 processing by MBTPS1.
up seq anno comments: BDNF precursor form
up seq anno comments: Brain-derived neurotrophic factor
up seq anno comments: Found in a patient with congenital central hypoventilation syndrome; unknown pathological significance.
up seq anno comments: Found in a small consanguineous family 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.
up seq anno comments: In isoform 5.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: NGF
up seq anno comments: Strongly associated with susceptibility to eating disorders such as anorexia nervosa and bulimia nervosa; associated with poorer episodic memory; may have a protective effect in obsessive-compulsive disorder; impairs localization to secretory granules or synapses; decreases density of dendritic mushroom spines and synapses.
up seq anno feature ids: PRO_0000019633
up seq anno feature ids: PRO_0000019634
up seq anno feature ids: PRO_0000447533
up seq anno feature ids: PRO_5014203264
up seq anno feature ids: VAR_004626
up seq anno feature ids: VAR_011797
up seq anno feature ids: VAR_011798
up seq anno feature ids: VAR_011799
up seq anno feature ids: VAR_018260
up seq anno feature ids: VAR_080766
up seq anno feature ids: VSP_037948
up seq anno feature ids: VSP_038099
up seq anno feature ids: VSP_038100
up seq anno feature ids: VSP_038101

9606:SLC43A3
gene id: 9606:SLC43A3
uniprot id: A0A024R4Y2
uniprot id: B0AZP8
uniprot id: Q8NBI5
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 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: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Equilibrative nucleobase transporter 1
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 feature ids: PRO_0000305036
up seq anno feature ids: VAR_035156
up seq anno feature ids: VSP_055620

9606:TRPS1
gene id: 9606:TRPS1
uniprot id: Q9UHF7
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 labels: Chain
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: 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; atypical
up seq anno comments: C2H2-type 2; atypical
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: C2H2-type 6
up seq anno comments: C2H2-type 7
up seq anno comments: GATA-type
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: Great loss of sumoylation and 30% reduction in repression activity. Almost complete loss of sumoylation and 70% reduction in repression activity; when associated with R-1192.
up seq anno comments: In TRPS1; prevents the transport into the nucleus and thus reduces the nuclear TRPS1 concentration consistent with haploinsufficiency.
up seq anno comments: In TRPS3.
up seq anno comments: In TRPS3; in heterozygous status has a milder effect causing TRPS1.
up seq anno comments: In TRPS3; severe.
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: Very little change in sumoylation and 30% reduction in repression activity. Almost complete loss of sumoylation and 70% reduction in repression activity; when associated with R-1201.
up seq anno comments: Zinc finger transcription factor Trps1
up seq anno feature ids: PRO_0000083508
up seq anno feature ids: VAR_012807
up seq anno feature ids: VAR_012808
up seq anno feature ids: VAR_012809
up seq anno feature ids: VAR_012810
up seq anno feature ids: VAR_012811
up seq anno feature ids: VAR_038197
up seq anno feature ids: VAR_038198
up seq anno feature ids: VAR_038199
up seq anno feature ids: VSP_037549
up seq anno feature ids: VSP_037550

9606:HSD3B2
gene id: 9606:HSD3B2
uniprot id: A0A024R0F9
uniprot id: P26439
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: 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 labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2
up seq anno comments: 3Beta_HSD
up seq anno comments: Helical
up seq anno comments: In AH2.
up seq anno comments: In AH2; activity abolished.
up seq anno comments: In AH2; late onset; almost normal activity.
up seq anno comments: In AH2; late onset; partial loss of activity.
up seq anno comments: In AH2; loss of 88% of activity.
up seq anno comments: In AH2; mild; 100% of activity.
up seq anno comments: In AH2; nonsalt-wasting form.
up seq anno comments: In AH2; nonsalt-wasting form; activity abolished.
up seq anno comments: In AH2; nonsalt-wasting form; loss of 75% of enzymatic activity for the conversion of pregnenolone to progesterone and dehydroepiandrosterone to androstenedione; no effect on endoplasmic reticulum location.
up seq anno comments: In AH2; strongly reduced activity.
up seq anno comments: In isoform 2.
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000087775
up seq anno feature ids: VAR_000006
up seq anno feature ids: VAR_000007
up seq anno feature ids: VAR_000008
up seq anno feature ids: VAR_000009
up seq anno feature ids: VAR_000010
up seq anno feature ids: VAR_000011
up seq anno feature ids: VAR_010517
up seq anno feature ids: VAR_010518
up seq anno feature ids: VAR_010519
up seq anno feature ids: VAR_010520
up seq anno feature ids: VAR_010521
up seq anno feature ids: VAR_010522
up seq anno feature ids: VAR_010523
up seq anno feature ids: VAR_010524
up seq anno feature ids: VAR_010525
up seq anno feature ids: VAR_010526
up seq anno feature ids: VAR_010527
up seq anno feature ids: VAR_010528
up seq anno feature ids: VAR_010529
up seq anno feature ids: VAR_010530
up seq anno feature ids: VAR_010531
up seq anno feature ids: VAR_010532
up seq anno feature ids: VAR_010533
up seq anno feature ids: VAR_010534
up seq anno feature ids: VAR_010535
up seq anno feature ids: VAR_014818
up seq anno feature ids: VAR_015411
up seq anno feature ids: VAR_048099
up seq anno feature ids: VAR_065665
up seq anno feature ids: VAR_070028
up seq anno feature ids: VAR_083841
up seq anno feature ids: VSP_037399
up seq anno feature ids: VSP_037400

9606:GALR3
gene id: 9606:GALR3
uniprot id: O60755
up 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 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: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Galanin receptor type 3
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: S-palmitoyl cysteine
up seq anno feature ids: PRO_0000069469
up seq anno feature ids: VAR_049387
up seq anno feature ids: VAR_059322

9606:PBK
gene id: 9606:PBK
uniprot id: Q96KB5
uniprot id: V9HWH0
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: Secondary Structure
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: 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: Decrease in the binding to DLG1.
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 activity.
up seq anno comments: Lymphokine-activated killer T-cell-originated protein kinase
up seq anno comments: N-acetylmethionine
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: TP53-binding.
up seq anno feature ids: PRO_0000086763
up seq anno feature ids: VAR_021162
up seq anno feature ids: VAR_041234
up seq anno feature ids: VAR_051676
up seq anno feature ids: VSP_055269

9606:CDC25B
gene id: 9606:CDC25B
uniprot id: B3KS38
uniprot id: B4DIG0
uniprot id: B4DQZ3
uniprot id: B4DRC3
uniprot id: E1YMX4
uniprot id: G8JLH2
uniprot id: P30305
uniprot id: Q6MZW8
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: Secondary Structure
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: Helix
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 labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: In isoform 1 and isoform 4.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 4.
up seq anno comments: M-phase inducer phosphatase 2
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by AURKA
up seq anno comments: Phosphoserine; by BRSK1 and MAPK14
up seq anno comments: Phosphoserine; by MELK
up seq anno comments: Phosphoserine; by MELK and MAPK14
up seq anno comments: Polar residues
up seq anno comments: Rhodanese
up seq anno feature ids: PRO_0000198644
up seq anno feature ids: VAR_020933
up seq anno feature ids: VSP_000861
up seq anno feature ids: VSP_000862
up seq anno feature ids: VSP_012587

9606:GJA9
gene id: 9606:GJA9
uniprot id: A0A654IBV8
uniprot id: P57773
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: 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: CNX
up seq anno comments: Connexin_CCC
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Gap junction alpha-9 protein
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000057840
up seq anno feature ids: VAR_019392
up seq anno feature ids: VSP_035808

9606:RD3L
gene id: 9606:RD3L
uniprot id: P0DJH9
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 comments: Protein RD3-like
up seq anno feature ids: PRO_0000417456

9606:EIF2AK4
gene id: 9606:EIF2AK4
uniprot id: Q9P2K8
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: Secondary Structure
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: 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: Basic and acidic residues
up seq anno comments: In PVOD2.
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: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by autocatalysis
up seq anno comments: Polar residues
up seq anno comments: Protein kinase 1
up seq anno comments: Protein kinase 2
up seq anno comments: Proton acceptor
up seq anno comments: RWD
up seq anno comments: eIF-2-alpha kinase GCN2
up seq anno feature ids: PRO_0000085947
up seq anno feature ids: VAR_040479
up seq anno feature ids: VAR_040480
up seq anno feature ids: VAR_040481
up seq anno feature ids: VAR_040482
up seq anno feature ids: VAR_040483
up seq anno feature ids: VAR_040484
up seq anno feature ids: VAR_040485
up seq anno feature ids: VAR_040486
up seq anno feature ids: VAR_040487
up seq anno feature ids: VAR_070990
up seq anno feature ids: VAR_070991
up seq anno feature ids: VSP_013038
up seq anno feature ids: VSP_039185
up seq anno feature ids: VSP_039186

9606:TKTL1
gene id: 9606:TKTL1
uniprot id: B7Z7I0
uniprot id: P51854
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: 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 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 2.
up seq anno comments: Proton donor
up seq anno comments: Transket_pyr
up seq anno comments: Transketolase-like protein 1
up seq anno feature ids: PRO_0000191899
up seq anno feature ids: VAR_029867
up seq anno feature ids: VAR_029868
up seq anno feature ids: VSP_022290
up seq anno feature ids: VSP_022291

9606:PRODH2
gene id: 9606:PRODH2
uniprot id: A0A590UKC3
uniprot id: Q9UF12
up 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 labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno comments: Hydroxyproline dehydrogenase
up seq anno comments: N6-acetyllysine
up seq anno comments: Pro_dh
up seq anno feature ids: PRO_0000308623
up seq anno feature ids: VAR_036852
up seq anno feature ids: VAR_036853

9606:COL10A1
gene id: 9606:COL10A1
uniprot id: A0A650AXN9
uniprot id: Q03692
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: 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: 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: In SMCD and spondylometaphyseal dysplasia Japanese type.
up seq anno comments: In SMCD.
up seq anno comments: Pro residues
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:CTF1
gene id: 9606:CTF1
uniprot id: Q16619
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Cardiotrophin-1
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000058762
up seq anno feature ids: VAR_014938
up seq anno feature ids: VSP_042725

9606:PRR7
gene id: 9606:PRR7
uniprot id: A0A024R7R8
uniprot id: Q8TB68
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 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: 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: Extracellular
up seq anno comments: Helical
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 feature ids: PRO_0000328649
up seq anno feature ids: VAR_042437
up seq anno feature ids: VSP_032750

9606:ADRB3
gene id: 9606:ADRB3
uniprot id: A8KAG8
uniprot id: P13945
up 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 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: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Beta-3 adrenergic receptor
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G_PROTEIN_RECEP_F1_2
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: S-palmitoyl cysteine
up seq anno feature ids: PRO_0000069143
up seq anno feature ids: VAR_003456
up seq anno feature ids: VAR_014166
up seq anno feature ids: VAR_025102
up seq anno feature ids: VAR_029205

9606:UNC13A
gene id: 9606:UNC13A
uniprot id: Q9UPW8
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: 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: Sequence Conflict
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: C2 1
up seq anno comments: C2 2
up seq anno comments: C2 3
up seq anno comments: MHD1
up seq anno comments: MHD2
up seq anno comments: Phorbol-ester/DAG-type
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Protein unc-13 homolog A
up seq anno feature ids: PRO_0000188573
up seq anno feature ids: VAR_061872

9606:CD81
gene id: 9606:CD81
uniprot id: A0A024RCB7
uniprot id: E9PJK1
uniprot id: P60033
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: 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: Mutagenesis Site
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: CD81 antigen
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Mildly reduced affinity for HCV protein E2.
up seq anno comments: No effect on integrin binding.
up seq anno comments: Reduced affinity for cholesterol binding.
up seq anno comments: Reduces binding to integrin.
up seq anno comments: Reduces binding to integrin; when associated with E-144.
up seq anno comments: Reduces binding to integrin; when associated with E-148.
up seq anno comments: Strongly reduced affinity for HCV protein E2.
up seq anno comments: Strongly reduced affinity for HCV protein E2; when associated with E-196.
up seq anno comments: Strongly reduced affinity for HCV protein E2; when associated with K-188 or Q-188.
up seq anno feature ids: PRO_0000219221

9606:HOXC11
gene id: 9606:HOXC11
uniprot id: O43248
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 labels: Chain
up seq anno labels: Crosslink
up seq anno labels: DNA Binding
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
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-C11
up seq anno feature ids: PRO_0000200192
up seq anno feature ids: VAR_031850
up seq anno feature ids: VAR_034002

9606:TRIM13
gene id: 9606:TRIM13
uniprot id: A0A024RDU3
uniprot id: L7MTJ6
uniprot id: O60858
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: 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: 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:SLC19A3
gene id: 9606:SLC19A3
uniprot id: Q9BZV2
up 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 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: In THMD2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Thiamine transporter 2
up seq anno feature ids: PRO_0000232656
up seq anno feature ids: VAR_025992
up seq anno feature ids: VAR_025993
up seq anno feature ids: VAR_052405
up seq anno feature ids: VAR_061864

9606:PRICKLE4
gene id: 9606:PRICKLE4
uniprot id: Q2TBC4
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Basic and acidic residues
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: LIM zinc-binding 1
up seq anno comments: LIM zinc-binding 2
up seq anno comments: PET
up seq anno comments: Polar residues
up seq anno comments: Prickle-like protein 4
up seq anno feature ids: PRO_0000231619
up seq anno feature ids: VAR_056165
up seq anno feature ids: VSP_017857
up seq anno feature ids: VSP_039377

9606:SLC29A1
gene id: 9606:SLC29A1
uniprot id: Q99808
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: Secondary Structure
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: 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: Equilibrative nucleoside transporter 1
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: No effect on subcellular localization and inosine transport.
up seq anno comments: Phosphoserine
up seq anno comments: Removed
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:NAT8L
gene id: 9606:NAT8L
uniprot id: Q8N9F0
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: Transmembrane
up seq anno comments: Helical
up seq anno comments: N-acetylaspartate synthetase
up seq anno comments: N-acetyltransferase
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000305229

9606:ZNF562
gene id: 9606:ZNF562
uniprot id: A0A024R7A3
uniprot id: B4DMG0
uniprot id: B4DZP9
uniprot id: B4E2P7
uniprot id: K7EIE6
uniprot id: Q6V9R5
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 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 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: In isoform 2.
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 562
up seq anno feature ids: PRO_0000047652
up seq anno feature ids: VAR_023936
up seq anno feature ids: VAR_023937
up seq anno feature ids: VAR_059922
up seq anno feature ids: VSP_016379
up seq anno feature ids: VSP_016380

9606:SORBS3
gene id: 9606:SORBS3
uniprot id: O60504
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: Secondary Structure
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: 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: In isoform Beta.
up seq anno comments: Loss of SOS-binding ability.
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by MAPK1
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno comments: SH3 1
up seq anno comments: SH3 2
up seq anno comments: SH3 3
up seq anno comments: SoHo
up seq anno comments: Vinexin
up seq anno feature ids: PRO_0000065830
up seq anno feature ids: VAR_055019
up seq anno feature ids: VAR_055020
up seq anno feature ids: VAR_057019
up seq anno feature ids: VSP_004489

9606:LDB2
gene id: 9606:LDB2
uniprot id: B7Z6D0
uniprot id: E9PFI4
uniprot id: G5E9Y7
uniprot id: O43679
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: LIM domain-binding protein 2
up seq anno comments: LIM interaction domain (LID)
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000084387
up seq anno feature ids: VSP_027825
up seq anno feature ids: VSP_027826
up seq anno feature ids: VSP_027827
up seq anno feature ids: VSP_027828

9606:NAIP
gene id: 9606:NAIP
uniprot id: Q13075
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: 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: 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:DCK
gene id: 9606:DCK
uniprot id: F5CTF3
uniprot id: P27707
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: 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: 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: 4.5-fold increase in Km.
up seq anno comments: Deoxycytidine kinase
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CK1
up seq anno comments: Phosphothreonine; by CK1
up seq anno comments: Proton acceptor
up seq anno comments: Strongly increased catalytic efficiency towards deoxycytidine; when associated with M-104 and A-133.
up seq anno comments: Strongly increased catalytic efficiency towards deoxycytidine; when associated with V-100 and A-133.
up seq anno comments: Strongly increased catalytic efficiency towards deoxycytidine; when associated with V-100 and M-104. Strongly increased catalytic efficiency towards deoxythymidine; when associated with L-104.
up seq anno comments: Strongly increased catalytic efficiency towards deoxythymidine; when associated with A-133.
up seq anno comments: dNK
up seq anno feature ids: PRO_0000175090

9606:SLC25A37
gene id: 9606:SLC25A37
uniprot id: Q9NYZ2
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Repeat
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: 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 4.
up seq anno comments: Mitoferrin-1
up seq anno comments: Solcar 1
up seq anno comments: Solcar 2
up seq anno comments: Solcar 3
up seq anno feature ids: PRO_0000235251
up seq anno feature ids: VAR_043144
up seq anno feature ids: VAR_043145
up seq anno feature ids: VSP_018400
up seq anno feature ids: VSP_018402
up seq anno feature ids: VSP_018403

9606:GOLGA8B
gene id: 9606:GOLGA8B
uniprot id: A8MQT2
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 labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Golgin subfamily A member 8B
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000316091
up seq anno feature ids: VSP_030496

9606:TMEM35B
gene id: 9606:TMEM35B
uniprot id: Q8NCS4
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
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:CHD9
gene id: 9606:CHD9
uniprot id: Q3L8U1
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: 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: 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: Chromo 1
up seq anno comments: Chromo 2
up seq anno comments: Chromodomain-helicase-DNA-binding protein 9
up seq anno comments: DEAH box
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 and isoform 3.
up seq anno comments: In isoform 3.
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: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000233172
up seq anno feature ids: VAR_047355
up seq anno feature ids: VSP_018085
up seq anno feature ids: VSP_018086

9606:NOP14
gene id: 9606:NOP14
uniprot id: A8KA74
uniprot id: P78316
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
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: In isoform 2.
up seq anno comments: Nucleolar protein 14
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000137155
up seq anno feature ids: VAR_053540
up seq anno feature ids: VAR_060075
up seq anno feature ids: VSP_018021
up seq anno feature ids: VSP_018022

9606:ZSWIM5
gene id: 9606:ZSWIM5
uniprot id: Q9P217
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
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 5
up seq anno feature ids: PRO_0000223103
up seq anno feature ids: VAR_053770

9606:ABHD14A
gene id: 9606:ABHD14A
uniprot id: Q9BUJ0
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: Site
up seq anno labels: Active 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: Transmembrane
up seq anno comments: Charge relay system
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Protein ABHD14A
up seq anno feature ids: PRO_0000282285
up seq anno feature ids: VAR_031390
up seq anno feature ids: VAR_031391

9606:CCM2L
gene id: 9606:CCM2L
uniprot id: Q9NUG4
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Splice Variant
up seq anno comments: Cerebral cavernous malformations 2 protein-like
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno feature ids: PRO_0000079476
up seq anno feature ids: VSP_007633
up seq anno feature ids: VSP_007634
up seq anno feature ids: VSP_007635

9606:FGF21
gene id: 9606:FGF21
uniprot id: A0A7U3L5M7
uniprot id: Q9NSA1
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Fibroblast growth factor
up seq anno comments: Fibroblast growth factor 21
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000008994
up seq anno feature ids: PRO_5031600779
up seq anno feature ids: VAR_049064
up seq anno feature ids: VAR_055375

9606:PUS7L
gene id: 9606:PUS7L
uniprot id: Q9H0K6
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: Site
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:GATB
gene id: 9606:GATB
uniprot id: O75879
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial
up seq anno comments: In COXPD41; unknown pathological significance.
up seq anno comments: Mitochondrion
up seq anno comments: N6-succinyllysine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000010710
up seq anno feature ids: VAR_049128
up seq anno feature ids: VAR_083986

9606:ZNF366
gene id: 9606:ZNF366
uniprot id: Q8N895
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 labels: Chain
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: Abolishes interaction with CTBP1 and in part relieves transcription repression; when associated with A-590.
up seq anno comments: Abolishes interaction with CTBP1 and in part relieves transcription repression; when associated with A-592.
up seq anno comments: Abolishes interaction with CTBP1. Abolishes interaction with CTBP1; when associated with A-648.
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: Decreases interaction with CTBP1; when associated with A-645.
up seq anno comments: Decreases interaction with CTBP1; when associated with A-647.
up seq anno comments: No effect on interaction with CTBP1. Abolishes interaction with CTBP1; when associated with A-593.
up seq anno comments: PXDLS
up seq anno comments: Zinc finger protein 366
up seq anno feature ids: PRO_0000047548
up seq anno feature ids: VAR_033564

9606:SPRR1A
gene id: 9606:SPRR1A
uniprot id: P35321
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence 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: Cornifin-A
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000149995
up seq anno feature ids: VAR_021097
up seq anno feature ids: VAR_021098

9606:MED14OS
gene id: 9606:MED14OS
uniprot id: P0DP75
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 comments: Polar residues
up seq anno comments: Putative uncharacterized protein MED14OS
up seq anno feature ids: PRO_0000440970

9606:DDX39A
gene id: 9606:DDX39A
uniprot id: O00148
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: 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: Initiator Methionine
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: ATP-dependent RNA helicase DDX39A
up seq anno comments: Acidic residues
up seq anno comments: DECD box
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 isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Q motif
up seq anno comments: Removed
up seq anno feature ids: PRO_0000055067
up seq anno feature ids: VAR_052166
up seq anno feature ids: VSP_046559
up seq anno feature ids: VSP_046560
up seq anno feature ids: VSP_057426
up seq anno feature ids: VSP_057427

9606:MAP3K21
gene id: 9606:MAP3K21
uniprot id: Q5TCX8
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: Secondary Structure
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: 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: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Mitogen-activated protein kinase kinase kinase 21
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by autocatalysis and MAP4K1
up seq anno comments: Phosphothreonine
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: SH3
up seq anno feature ids: PRO_0000086268
up seq anno feature ids: VAR_040729
up seq anno feature ids: VAR_040730
up seq anno feature ids: VAR_040731
up seq anno feature ids: VAR_040732
up seq anno feature ids: VAR_040733
up seq anno feature ids: VAR_040734
up seq anno feature ids: VAR_040735
up seq anno feature ids: VAR_040736
up seq anno feature ids: VAR_040737
up seq anno feature ids: VAR_040738
up seq anno feature ids: VSP_051731
up seq anno feature ids: VSP_051732
up seq anno feature ids: VSP_051733
up seq anno feature ids: VSP_051734

9606:SNX24
gene id: 9606:SNX24
uniprot id: Q9Y343
up 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: 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: 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: PX
up seq anno comments: Phosphoserine
up seq anno comments: Sorting nexin-24
up seq anno feature ids: PRO_0000213872
up seq anno feature ids: VSP_012034

9606:RETREG2
gene id: 9606:RETREG2
uniprot id: B3KR51
uniprot id: Q8NC44
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Transmembrane
up seq anno comments: Abolishes interaction with ATG8 family proteins, induction of ER fragmentation and ER degradation.
up seq anno comments: Helical
up seq anno comments: LIR motif
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: Reticulophagy regulator 2
up seq anno feature ids: PRO_0000089346
up seq anno feature ids: PRO_5002788432
up seq anno feature ids: VAR_022835
up seq anno feature ids: VAR_033720

9606:ANXA11
gene id: 9606:ANXA11
uniprot id: P50995
uniprot id: Q5T0G8
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: 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: 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:JUN
gene id: 9606:JUN
uniprot id: P05412
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: Secondary Structure
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 comments: Abolishes activation of FASLG/CD95L transcription.
up seq anno comments: Abolishes interaction with FBXW7; when associated with A-63; A-73 and A-91.
up seq anno comments: Abolishes interaction with FBXW7; when associated with A-63; A-73 and A-93.
up seq anno comments: Abolishes phosphorylation by DYRK2. Abolishes phosphorylation by GSK3B at Thr-239.
up seq anno comments: Abolishes the synergistic activity with SMAD3 to activate TGF-beta-mediated transcription.
up seq anno comments: Complete loss of PAK2-mediated phosphorylation; when associated with A-2; A-89; A-93; and A-286.
up seq anno comments: Complete loss of PAK2-mediated phosphorylation; when associated with A-2; A-8; A-89; and A-286.
up seq anno comments: Complete loss of PAK2-mediated phosphorylation; when associated with A-2; A-8; A-89; and A-93.
up seq anno comments: Complete loss of PAK2-mediated phosphorylation; when associated with A-2; A-8; A-93; and A-286.
up seq anno comments: Complete loss of PAK2-mediated phosphorylation; when associated with A-8; A-89; A-93; and A-286.
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: Greatly reduced ATF7-mediated transcriptional activity; when associated with A-63. Abolishes interaction with FBXW7; when associated with A-63; A-91 and A-93.
up seq anno comments: Greatly reduced ATF7-mediated transcriptional activity; when associated with A-73. Abolishes interaction with FBXW7; when associated with A-73; A-91 and A-93.
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by DYRK2 and GSK3-beta
up seq anno comments: Phosphoserine; by GSK3-beta
up seq anno comments: Phosphoserine; by MAPK8 and PLK3
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by GSK3-beta
up seq anno comments: Phosphothreonine; by PAK2
up seq anno comments: Transcription factor Jun
up seq anno comments: bZIP
up seq anno feature ids: PRO_0000076429
up seq anno feature ids: VAR_012070

9606:UBE2F
gene id: 9606:UBE2F
uniprot id: Q969M7
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: Secondary Structure
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: 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: Glycyl thioester intermediate
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-acetylmethionine
up seq anno comments: NEDD8-conjugating enzyme UBE2F
up seq anno comments: UBC core
up seq anno feature ids: PRO_0000263077
up seq anno feature ids: VSP_037270
up seq anno feature ids: VSP_037271
up seq anno feature ids: VSP_037272
up seq anno feature ids: VSP_037273
up seq anno feature ids: VSP_037274
up seq anno feature ids: VSP_055749
up seq anno feature ids: VSP_055750

9606:TYRP1
gene id: 9606:TYRP1
uniprot id: P17643
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: Secondary Structure
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: 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: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: 5,6-dihydroxyindole-2-carboxylic acid oxidase
up seq anno comments: Associated with blond hair in individuals from the Solomon Islands; rare or absent outside of Oceania.
up seq anno comments: Cytoplasmic
up seq anno comments: Helical
up seq anno comments: In OCA3.
up seq anno comments: Lumenal, melanosome
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No effect; when associated with F-362 and S-374.
up seq anno comments: No effect; when associated with F-362 and V-391.
up seq anno comments: No effect; when associated with S-374 and V-391.
up seq anno feature ids: PRO_0000035889
up seq anno feature ids: VAR_026827
up seq anno feature ids: VAR_026828
up seq anno feature ids: VAR_068176
up seq anno feature ids: VAR_072599

9606:COG7
gene id: 9606:COG7
uniprot id: A0A0S2Z652
uniprot id: P83436
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 labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Variant
up seq anno comments: Conserved oligomeric Golgi complex subunit 7
up seq anno feature ids: PRO_0000213518
up seq anno feature ids: VAR_048762

9606:ADA2
gene id: 9606:ADA2
uniprot id: A0A087X0I3
uniprot id: B4E3Q4
uniprot id: Q9NZK5
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: Secondary Structure
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: 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: A_deaminase
up seq anno comments: A_deaminase_N
up seq anno comments: Abolishes secretion.
up seq anno comments: Adenosine deaminase 2
up seq anno comments: In SNDNS.
up seq anno comments: In VAIHS.
up seq anno comments: In VAIHS; there is a decreased expression of the mutant protein compared to wild-type.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Proton acceptor
up seq anno comments: Proton donor
up seq anno comments: Reduces dimerization and enzyme activity.
up seq anno feature ids: PRO_0000006725
up seq anno feature ids: VAR_029802
up seq anno feature ids: VAR_071137
up seq anno feature ids: VAR_071138
up seq anno feature ids: VAR_071139
up seq anno feature ids: VAR_071140
up seq anno feature ids: VAR_071141
up seq anno feature ids: VAR_071142
up seq anno feature ids: VAR_071143
up seq anno feature ids: VAR_071144
up seq anno feature ids: VAR_072562
up seq anno feature ids: VAR_072563
up seq anno feature ids: VSP_041509
up seq anno feature ids: VSP_041510

9606:BAP1
gene id: 9606:BAP1
uniprot id: A0A024R305
uniprot id: F8W6N3
uniprot id: Q92560
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: Site
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: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
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: 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: 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 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: 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: UCH_1
up seq anno comments: UCH_C
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
up seq anno feature ids: VAR_086941
up seq anno feature ids: VAR_086942
up seq anno feature ids: VAR_086943
up seq anno feature ids: VAR_086944
up seq anno feature ids: VAR_086945

9606:TADA1
gene id: 9606:TADA1
uniprot id: Q96BN2
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: Secondary Structure
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: Transcriptional adapter 1
up seq anno feature ids: PRO_0000316015
up seq anno feature ids: VAR_038352

9606:PARK7
gene id: 9606:PARK7
uniprot id: Q99497
uniprot id: V9HWC2
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: Secondary Structure
up seq anno parent labels: Site
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: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes detoxification acivity 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: 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 acivity on methylglyocal-adducted CoA.
up seq anno comments: In PARK7; loss of protection against metal cytotoxicity; decreased detoxification acivity on methylglyocal-adducted CoA.
up seq anno comments: In PARK7; no apparent effect on protein stability; impaired mitochondrial morphology; no effect on detoxification acivity 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 acivity 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 acivity 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 acivity 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 acivity 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 acivity 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
up seq anno feature ids: VAR_020495
up seq anno feature ids: VAR_020496
up seq anno feature ids: VAR_020497
up seq anno feature ids: VAR_020498
up seq anno feature ids: VAR_020499
up seq anno feature ids: VAR_034801
up seq anno feature ids: VAR_072589
up seq anno feature ids: VAR_083277
up seq anno feature ids: VAR_084339

9606:LIPI
gene id: 9606:LIPI
uniprot id: H0Y3S0
uniprot id: Q5D1Q2
uniprot id: Q6XZB0
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: 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: Glycosylation Site
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 comments: Charge relay system
up seq anno comments: In FHTR.
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: Lipase
up seq anno comments: Lipase member I
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No activity.
up seq anno comments: Nucleophile
up seq anno feature ids: PRO_0000042779
up seq anno feature ids: VAR_023760
up seq anno feature ids: VAR_023761
up seq anno feature ids: VAR_023762
up seq anno feature ids: VAR_023763
up seq anno feature ids: VSP_016090
up seq anno feature ids: VSP_053896
up seq anno feature ids: VSP_053897
up seq anno feature ids: VSP_053898
up seq anno feature ids: VSP_053899
up seq anno feature ids: VSP_053900
up seq anno feature ids: VSP_053901
up seq anno feature ids: VSP_053902
up seq anno feature ids: VSP_053903

9606:ERCC6
gene id: 9606:ERCC6
uniprot id: A8K4Q3
uniprot id: P0DP91
uniprot id: Q03468
uniprot id: Q59FF6
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: Secondary Structure
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: 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: 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: DDE_Tnp_1_7
up seq anno comments: DEAH box
up seq anno comments: DNA excision repair protein ERCC-6
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: 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: Polar residues
up seq anno feature ids: PRO_0000074314
up seq anno feature ids: PRO_0000441747
up seq anno feature ids: VAR_001216
up seq anno feature ids: VAR_001217
up seq anno feature ids: VAR_001218
up seq anno feature ids: VAR_001219
up seq anno feature ids: VAR_001220
up seq anno feature ids: VAR_001221
up seq anno feature ids: VAR_001222
up seq anno feature ids: VAR_001223
up seq anno feature ids: VAR_001224
up seq anno feature ids: VAR_001225
up seq anno feature ids: VAR_016301
up seq anno feature ids: VAR_016302
up seq anno feature ids: VAR_016303
up seq anno feature ids: VAR_016304
up seq anno feature ids: VAR_016305
up seq anno feature ids: VAR_016306
up seq anno feature ids: VAR_016307
up seq anno feature ids: VAR_016308

9606:ZNF320
gene id: 9606:ZNF320
uniprot id: A2RRD8
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: 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; 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 320
up seq anno feature ids: PRO_0000300263

9606:SLC35G3
gene id: 9606:SLC35G3
uniprot id: Q8N808
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: Transmembrane
up seq anno comments: EamA 1
up seq anno comments: EamA 2
up seq anno comments: Helical
up seq anno comments: Solute carrier family 35 member G3
up seq anno feature ids: PRO_0000269553

9606:CISH
gene id: 9606:CISH
uniprot id: Q9NSE2
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Splice Variant
up seq anno comments: Cytokine-inducible SH2-containing protein
up seq anno comments: In isoform 1B.
up seq anno comments: In isoform 1C.
up seq anno comments: Pro residues
up seq anno comments: SH2
up seq anno comments: SOCS box
up seq anno feature ids: PRO_0000181231
up seq anno feature ids: VSP_006194
up seq anno feature ids: VSP_006195

9606:RGL1
gene id: 9606:RGL1
uniprot id: B7Z2W5
uniprot id: B7Z915
uniprot id: B7ZB61
uniprot id: Q9NZL6
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 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: Sequence Conflict
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 B.
up seq anno comments: N-terminal Ras-GEF
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Ral guanine nucleotide dissociation stimulator-like 1
up seq anno comments: Ras-GEF
up seq anno comments: Ras-associating
up seq anno feature ids: PRO_0000068885
up seq anno feature ids: VAR_035823
up seq anno feature ids: VAR_035824
up seq anno feature ids: VSP_001824

9606:MRPS34
gene id: 9606:MRPS34
uniprot id: C9JJ19
uniprot id: P82930
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Sequence Variant
up seq anno comments: 28S ribosomal protein S34, mitochondrial
up seq anno comments: Basic and acidic residues
up seq anno comments: In COXPD32.
up seq anno comments: In COXPD32; significant decrease in protein levels; destabilizes the small ribosomal subunit resulting in impaired mitochondrial translation.
up seq anno feature ids: PRO_0000087730
up seq anno feature ids: VAR_052050
up seq anno feature ids: VAR_080218
up seq anno feature ids: VAR_080219
up seq anno feature ids: VAR_080220

9606:SMIM9
gene id: 9606:SMIM9
uniprot id: A6NGZ8
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
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: Small integral membrane protein 9
up seq anno feature ids: PRO_0000348247

9606:UBA7
gene id: 9606:UBA7
uniprot id: P41226
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: 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: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: 1-1
up seq anno comments: 1-2
up seq anno comments: Found in a small consanguineous family with learning disability; unknown pathological significance.
up seq anno comments: Glycyl thioester intermediate
up seq anno comments: Phosphoserine
up seq anno comments: Ubiquitin-like modifier-activating enzyme 7
up seq anno feature ids: PRO_0000194937
up seq anno feature ids: VAR_047793
up seq anno feature ids: VAR_052434
up seq anno feature ids: VAR_080759

9606:MCAT
gene id: 9606:MCAT
uniprot id: Q8IVS2
up 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: Site
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: 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: Malonyl-CoA-acyl carrier protein transacylase, mitochondrial
up seq anno comments: Mitochondrion
up seq anno comments: N6-succinyllysine
up seq anno feature ids: PRO_0000000589
up seq anno feature ids: VAR_048183
up seq anno feature ids: VSP_010517
up seq anno feature ids: VSP_010518

9606:TAS2R30
gene id: 9606:TAS2R30
uniprot id: P59541
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 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: Taste receptor type 2 member 30
up seq anno feature ids: PRO_0000082323
up seq anno feature ids: VAR_070809

9606:CPO
gene id: 9606:CPO
uniprot id: Q8IVL8
up 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: 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: 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:GLI1
gene id: 9606:GLI1
uniprot id: B4DNF7
uniprot id: P08151
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: Secondary Structure
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: 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: 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: N6-acetyllysine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
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:CEP41
gene id: 9606:CEP41
uniprot id: Q9BYV8
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 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: 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: 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:TESK1
gene id: 9606:TESK1
uniprot id: Q15569
uniprot id: Q8NFJ4
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: 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: Non-terminal Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Abolishes inhibition of SPRY4-mediated repression of cell spreading. No effect on interaction with SPRY4 or colocalization with SPRY4 at vesicular spots in the cytoplasm.
up seq anno comments: Dual specificity testis-specific protein kinase 1
up seq anno comments: In breast cancer samples; infiltrating ductal carcinoma; somatic mutation.
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine; by autocatalysis
up seq anno comments: Pro residues
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000086746
up seq anno feature ids: VAR_035638
up seq anno feature ids: VAR_041213

9606:NR2C2
gene id: 9606:NR2C2
uniprot id: F2YGU2
uniprot id: P49116
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: Secondary Structure
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: 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 labels: Zinc Finger
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: NR C4-type
up seq anno comments: NR LBD
up seq anno comments: Nuclear receptor
up seq anno comments: Nuclear receptor subfamily 2 group C member 2
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by MAPK
up seq anno comments: Reduces interaction with JAZF1.
up seq anno feature ids: PRO_0000053588
up seq anno feature ids: VSP_039522

9606:DUX4
gene id: 9606:DUX4
uniprot id: C3U3A0
uniprot id: Q9UBX2
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 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: 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: 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: 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 feature ids: PRO_0000252413
up seq anno feature ids: VSP_060075
up seq anno feature ids: VSP_060076

9606:CT45A1
gene id: 9606:CT45A1
uniprot id: Q5HYN5
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 comments: Cancer/testis antigen family 45 member A1
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000308946

9606:TBC1D19
gene id: 9606:TBC1D19
uniprot id: Q8N5T2
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 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:IFT88
gene id: 9606:IFT88
uniprot id: A0A140VJL7
uniprot id: B3KX42
uniprot id: Q13099
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 labels: Chain
up seq anno labels: Compositionally Biased 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: In isoform 1 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: Intraflagellar transport protein 88 homolog
up seq anno comments: Polar residues
up seq anno comments: TPR
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 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_0000106391
up seq anno feature ids: VAR_046464
up seq anno feature ids: VAR_046465
up seq anno feature ids: VAR_046466
up seq anno feature ids: VSP_060641
up seq anno feature ids: VSP_060642

9606:ELAC1
gene id: 9606:ELAC1
uniprot id: Q9H777
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: Secondary Structure
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: 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: Zinc phosphodiesterase ELAC protein 1
up seq anno feature ids: PRO_0000155825
up seq anno feature ids: VAR_017424

9606:PPP4R3A
gene id: 9606:PPP4R3A
uniprot id: A0A024R6M2
uniprot id: Q6IN85
uniprot id: Q8N6W1
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: Secondary Structure
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: 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: In isoform 2 and isoform 5.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: N6-acetyllysine
up seq anno comments: PP4R3
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Serine/threonine-protein phosphatase 4 regulatory subunit 3A
up seq anno comments: WH1
up seq anno feature ids: PRO_0000254598
up seq anno feature ids: VSP_021252
up seq anno feature ids: VSP_021253
up seq anno feature ids: VSP_021256

9606:CYP2E1
gene id: 9606:CYP2E1
uniprot id: P05181
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: Secondary Structure
up seq anno parent labels: 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: Cytochrome P450 2E1
up seq anno comments: In allele CYP2E1*2; reduced activity.
up seq anno comments: In allele CYP2E1*3.
up seq anno comments: In allele CYP2E1*4.
up seq anno comments: axial binding residue
up seq anno feature ids: PRO_0000051751
up seq anno feature ids: VAR_008360
up seq anno feature ids: VAR_008361
up seq anno feature ids: VAR_008362
up seq anno feature ids: VAR_024727
up seq anno feature ids: VAR_055382
up seq anno feature ids: VAR_055383

9606:RNH1
gene id: 9606:RNH1
uniprot id: P13489
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: 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 labels: Mutagenesis Site
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 comments: 25-fold reduction in binding affinity for RNASE2.
up seq anno comments: 40-fold reduction in binding affinity for RNASE2.
up seq anno comments: A significant decrease in binding affinity with RNASE1, slight decrease for the ANG ligand, no real change in binding affinity for RNASE2.
up seq anno comments: Binding affinity decreased 5000-fold over the wild type for RNASE2; when associated with A-264 and A-319.
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: N-acetylserine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno comments: Ribonuclease inhibitor
up seq anno comments: Substantially decreased binding affinity for RNASE2. Binding affinity decreased 5000-fold over the wild type for RNASE2; when associated with A-262 and A-264.
up seq anno comments: Substantially decreased binding affinity for RNASE2. Binding affinity decreased 5000-fold over the wild type for RNASE2; when associated with A-262 and A-319.
up seq anno comments: Substantially decreases binding affinity for RNASE1, ANG and RNASE2.
up seq anno feature ids: PRO_0000097343
up seq anno feature ids: VAR_014726

9606:ZNF791
gene id: 9606:ZNF791
uniprot id: Q3KP31
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 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 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 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 791
up seq anno feature ids: PRO_0000311799
up seq anno feature ids: VSP_056674

9606:ABCG8
gene id: 9606:ABCG8
uniprot id: Q9H221
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: Secondary Structure
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: 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: ABC transmembrane type-2
up seq anno comments: ABC transporter
up seq anno comments: ATP-binding cassette sub-family G member 8
up seq anno comments: Associated significantly with GBD4.
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: In STSL1.
up seq anno comments: In STSL1; decreased maturation of glycan chains.
up seq anno comments: In STSL1; strongly decreased maturation of glycan chains.
up seq anno comments: In STSL1; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of ATPase activity.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000093396
up seq anno feature ids: VAR_012250
up seq anno feature ids: VAR_012251
up seq anno feature ids: VAR_012252
up seq anno feature ids: VAR_012253
up seq anno feature ids: VAR_012254
up seq anno feature ids: VAR_012255
up seq anno feature ids: VAR_012256
up seq anno feature ids: VAR_012257
up seq anno feature ids: VAR_012258
up seq anno feature ids: VAR_012259
up seq anno feature ids: VAR_012260
up seq anno feature ids: VAR_012261
up seq anno feature ids: VAR_012262
up seq anno feature ids: VAR_012263
up seq anno feature ids: VAR_012264
up seq anno feature ids: VAR_012265
up seq anno feature ids: VAR_012266
up seq anno feature ids: VAR_012267
up seq anno feature ids: VAR_020785
up seq anno feature ids: VAR_022074
up seq anno feature ids: VAR_022075
up seq anno feature ids: VSP_000052

9606:ZNF841
gene id: 9606:ZNF841
uniprot id: Q6ZN19
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 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
up seq anno comments: C2H2-type 14
up seq anno comments: C2H2-type 15
up seq anno comments: C2H2-type 16; degenerate
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 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 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: In isoform 3.
up seq anno comments: Zinc finger protein 841
up seq anno feature ids: PRO_0000334677
up seq anno feature ids: VSP_033755
up seq anno feature ids: VSP_040752

9606:YTHDC2
gene id: 9606:YTHDC2
uniprot id: Q9H6S0
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: Secondary Structure
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: Helix
up seq anno labels: Modified Residue
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: Strand
up seq anno comments: 3'-5' RNA helicase YTHDC2
up seq anno comments: ANK 1
up seq anno comments: ANK 2
up seq anno comments: Abolished 3'-5' RNA helicase activity.
up seq anno comments: Abolished ability to bind N6-methyladenosine (m6A)-containing RNAs.
up seq anno comments: Basic and acidic residues
up seq anno comments: DEAH box
up seq anno comments: Helicase ATP-binding
up seq anno comments: Helicase C-terminal
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: R3H
up seq anno comments: YTH
up seq anno feature ids: PRO_0000249340
up seq anno feature ids: VAR_058002
up seq anno feature ids: VAR_058003

9606:AMFR
gene id: 9606:AMFR
uniprot id: A0A024R6R5
uniprot id: Q9UKV5
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: Secondary Structure
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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Transmembrane
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: CUE
up seq anno comments: Decreased palmitoylation.
up seq anno comments: Decreased palmitoylation. No degradation of HMGCR.
up seq anno comments: E3 ubiquitin-protein ligase AMFR
up seq anno comments: Helical
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: RING-type
up seq anno feature ids: PRO_0000064579
up seq anno feature ids: VAR_035790

9606:GRID2
gene id: 9606:GRID2
uniprot id: O43424
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: Secondary Structure
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: 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: 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: Glutamate receptor ionotropic, delta-2
up seq anno comments: Helical
up seq anno comments: Impairs the ability of the LBD to induce pore closure. No effect on synapse assembly. No effect on cerebellar parallel fiber-Purkinje cell synapse formation. Abolishes D-Serine?dependent long term synaptic depression at PF-PC synapses. Does not affect motor coordination.
up seq anno comments: In SCAR18.
up seq anno comments: In SCAR18; constitutively open the extracellular-glutamate-gated ion channel.
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Monomeric form. Does not dimerize. Weakly interacts with C1q domain of CBLN1. Forms intermediate synapse. Abolishes cerebellar parallel fiber-Purkinje cell synapse formation. Abolishes D-Serine?dependent long term synaptic depression at PF-PC synapses. Does not recover motor coordination in experiment of transfection in Grid2-null mice.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No effect on CBLN1 interaction; when associated with D76.
up seq anno comments: No effect on CBLN1 interaction; when associated with D76. No effect on CBLN1 binding; when associated with D-76; A-343; A-346 and A-349. No effect on synapse assembly; when associated with A-343; A-346 and A-349. No effect on cerebellar parallel fiber-Purkinje cell synapse formation; when associated with A-343; A-346 and A-349. Does not affect D-Serine?dependent long term synaptic depression at PF-PC synapses; when associated with A-343; A-346 and A-349. Does not affect motor coordination; when associated with A-343; A-346 and A-349.
up seq anno comments: No effect on CBLN1 interaction; when associated with D76. No effect on CBLN1 binding; when associated with D-76; A-343; A-346 and A-350. No effect on synapse assembly; when associated with A-343; A-346 and A-350. No effect on cerebellar parallel fiber-Purkinje cell synapse formation; when associated with A-343; A-346 and A-350. Does not affect D-Serine?dependent long term synaptic depression at PF-PC synapses; when associated with A-343; A-346 and A-350. Does not affect motor coordination; when associated with A-343; A-346 and A-350.
up seq anno comments: No effect on CBLN1 interaction; when associated with D76. No effect on CBLN1 binding; when associated with D-76; A-343; A-349 and A-350. No effect on synapse assembly; when associated with A-343; A-349 and A-350. No effect on cerebellar parallel fiber-Purkinje cell synapse formation; when associated with A-343; A-349 and A-350. Does not affect D-Serine?dependent long term synaptic depression at PF-PC synapses; when associated with A-343; A-349 and A-350. Does not affect motor coordination; when associated with A-343; A-349 and A-350.
up seq anno comments: No effect on CBLN1 interaction; when associated with D76. No effect on CBLN1 binding; when associated with D-76; A-346; A-349 and A-350. No effect on synapse assembly; when associated with A-346; A-349 and A-350. No effect on cerebellar parallel fiber-Purkinje cell synapse formation; when associated with A-346; A-349 and A-350. Does not affect D-Serine?dependent long term synaptic depression at PF-PC synapses; when associated with A-346; A-349 and A-350. Does not affect motor coordination; when associated with A-346; A-349 and A-350.
up seq anno comments: PDZ-binding
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Reduces binding to CBLN1; when associated with D76.
up seq anno comments: Reduces binding to CBLN1; when associated with D76. Abolishes CBLN1 binding; when associated with A-24; A-26; A-61 and D-76. Abolishes synapse assembly; when associated with A-24; A-26 and A-61. Abolishes cerebellar parallel fiber-Purkinje cell synapse formation; when associated with A-24; A-26 and A-61. Abolishes D-Serine-dependent long term synaptic depression at PF-PC synapses; when associated with A-24; A-26 and A-61.
up seq anno comments: Reduces binding to CBLN1; when associated with D76. Abolishes CBLN1 binding; when associated with A-24; A-26; D-76 and A-345. Abolishes synapse assembly; when associated with A-24; A-26 and A-345. Abolishes cerebellar parallel fiber-Purkinje cell synapse formation; when associated with A-24; A-26 and A-345. Abolishes D-Serine-dependent long term synaptic depression at PF-PC synapses; when associated with A-24; A-26 and A-345.
up seq anno comments: Reduces binding to CBLN1; when associated with D76. Abolishes CBLN1 binding; when associated with A-24; A-61; D-76 and A-345. Abolishes synapse assembly; when associated with A-24; A-61 and A-345. Abolishes cerebellar parallel fiber-Purkinje cell synapse formation; when associated with A-24; A-61 and A-345. Abolishes D-Serine-dependent long term synaptic depression at PF-PC synapses; when associated with A-24; A-61 and A-345.
up seq anno comments: Reduces binding to CBLN1; when associated with D76. Abolishes CBLN1 binding; when associated with A-26; A-61; D-76 and A-345. Abolishes synapse assembly; when associated with A-26; A-61 and A-345. Abolishes cerebellar parallel fiber-Purkinje cell synapse formation; when associated with A-26; A-61 and A-345. Abolishes D-Serine-dependent long term synaptic depression at PF-PC synapses; when associated with A-26; A-61 and A-345.
up seq anno feature ids: PRO_0000011564
up seq anno feature ids: VAR_035697
up seq anno feature ids: VAR_055016
up seq anno feature ids: VAR_055017
up seq anno feature ids: VAR_055018
up seq anno feature ids: VAR_074166
up seq anno feature ids: VAR_074167
up seq anno feature ids: VAR_074168
up seq anno feature ids: VSP_054704

9606:UBE2O
gene id: 9606:UBE2O
uniprot id: Q9C0C9
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: Site
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: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: (E3-independent) E2 ubiquitin-conjugating enzyme
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Glycyl thioester intermediate
up seq anno comments: Loss of function.
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: UBC core
up seq anno feature ids: PRO_0000280637
up seq anno feature ids: VAR_031184

9606:BCAP31
gene id: 9606:BCAP31
uniprot id: P51572
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 labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Helix
up seq anno labels: Initiator Methionine
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: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Abolishes cleavage by caspases, inhibits apoptotic membrane blebbing and release of cytochrome c from mitochondria; when associated with A-164.
up seq anno comments: Abolishes cleavage by caspases, inhibits apoptotic membrane blebbing and release of cytochrome c from mitochondria; when associated with A-238.
up seq anno comments: B-cell receptor-associated protein 31
up seq anno comments: Cytoplasmic
up seq anno comments: Di-lysine motif
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Lumenal
up seq anno comments: Removed
up seq anno feature ids: PRO_0000142891
up seq anno feature ids: VSP_043116

9606:NDE1
gene id: 9606:NDE1
uniprot id: Q9NXR1
uniprot id: X5DP35
uniprot id: X5DR54
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: 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: 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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: Loss of centrosomal localization and reduced ZNF365-binding; when associated with E-191; E-215; E-228; E-243 and E-246.
up seq anno comments: Loss of centrosomal localization and reduced ZNF365-binding; when associated with E-191; E-215; E-228; E-243 and E-282.
up seq anno comments: Loss of centrosomal localization and reduced ZNF365-binding; when associated with E-191; E-215; E-228; E-246 and E-282.
up seq anno comments: Loss of centrosomal localization and reduced ZNF365-binding; when associated with E-191; E-215; E-243; E-246 and E-282.
up seq anno comments: Loss of centrosomal localization and reduced ZNF365-binding; when associated with E-191; E-228; E-243; E-246 and E-282.
up seq anno comments: Loss of centrosomal localization and reduced ZNF365-binding; when associated with E-215; E-228; E-243; E-246 and E-282.
up seq anno comments: NUDE_C
up seq anno comments: Nuclear distribution protein nudE homolog 1
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Retained on spindle poles during mitosis, no loss of phosphorylation in vivo and increased ZNF365-binding; when associated with V-191; V-215; V-228; V-243 and A-282.
up seq anno comments: Retained on spindle poles during mitosis, no loss of phosphorylation in vivo and increased ZNF365-binding; when associated with V-191; V-215; V-228; V-243 and V-246.
up seq anno comments: Retained on spindle poles during mitosis, no loss of phosphorylation in vivo and increased ZNF365-binding; when associated with V-191; V-215; V-228; V-246 and A-282.
up seq anno comments: Retained on spindle poles during mitosis, no loss of phosphorylation in vivo and increased ZNF365-binding; when associated with V-191; V-215; V-243; V-246 and A-282.
up seq anno comments: Retained on spindle poles during mitosis, no loss of phosphorylation in vivo and increased ZNF365-binding; when associated with V-191; V-228; V-243; V-246 and A-282.
up seq anno comments: Retained on spindle poles during mitosis, no loss of phosphorylation in vivo and increased ZNF365-binding; when associated with V-215; V-228; V-243; V-246 and A-282.
up seq anno comments: S-palmitoyl cysteine; by ZDHHC2, ZDHHC3 and ZDHHC7
up seq anno feature ids: PRO_0000240202
up seq anno feature ids: VSP_059512

9606:GSG1L2
gene id: 9606:GSG1L2
uniprot id: A8MUP6
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: 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: Germ cell-specific gene 1-like protein 2
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000343701

9606:CALM2
gene id: 9606:CALM2
uniprot id: B4DJ51
uniprot id: P0DP23
uniprot id: P0DP24
uniprot id: P0DP25
uniprot id: Q96HY3
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: Secondary Structure
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: 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: Calmodulin-1
up seq anno comments: Calmodulin-2
up seq anno comments: Calmodulin-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: 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 CPVT4; increased RYR2 calcium-release channel activity; not changed calcium-dependent inactivation of L-type calcium channel; not changed protein abundance; not changed structure; not changed thermal stability both in the absence and presence of calcium; no effect on the calcium binding affinity; significantly increased binding of RYR2; increased ryanodine-sensitive calcium-release channel activity; decreased of KCNN2 calcium-activated potassium channel activity; not changed KCNN2 expression; not changed KCNN2 location at membrane.
up seq anno comments: In CPVT4; the mutant has significantly reduced calcium affinity compared to wild-type; calmodulin-RYR2 interaction is defective at low intracellular Ca(2+) concentrations and restored at moderate to high Ca(2+) concentrations; increased RYR2 calcium-release channel activity; decreased KCNN2 calcium-activated potassium channel activity; not changed KCNN2 expression; not changed KCNN2 location at membrane.
up seq anno comments: In CPVT6; decreased calcium-binding affinity; not changed binding to RYR2; increased RYR2 calcium-release channel activity; decreased calcium-dependent inactivation of L-type calcium channel; not changed action potential duration.
up seq anno comments: In LQT14; decreased calcium affinity; loss of CACNA1C calcium-dependent-inactivation; no effect on intracellular RYR2-mediated calcium release.
up seq anno comments: In LQT14; loss-of-function variant causing impaired negative regulation of high voltage-gated calcium channel activity; impaired regulation of cardiac muscle cell action potential; decreased calcium ion binding.
up seq anno comments: In LQT14; reduction in calcium affinity; not changed protein abundance; not changed structure; significantly decreased thermal stability in presence of calcium; no effect on RYR2 interaction; significantly reduced ryanodine-sensitive calcium-release channel activity; impaired negative regulation of high voltage-gated calcium channel activity; impaired regulation of cardiac muscle cell action potential.
up seq anno comments: In LQT14; reduction in calcium affinity; not changed protein abundance; not changed structure; significantly decreased thermal stability in presence of calcium; significantly decreased RYR2 interaction; increased ryanodine-sensitive calcium-release channel activity; decreased of KCNN2 calcium-activated potassium channel activity; not changed KCNN2 expression; not changed KCNN2 location at membrane.
up seq anno comments: In LQT14; significantly decreased of KCNN2 calcium-activated potassium channel activity; not changed KCNN2 expression; not changed KCNN2 location at membrane; decreased thermal stability in presence of calcium ions; decreased interaction with RYR2.
up seq anno comments: In LQT15.
up seq anno comments: In LQT15; reduction in calcium affinity.
up seq anno comments: In LQT15; reduction in calcium affinity; highly decreased calcium-dependent inactivation of L-type calcium channel; increased action potential duration; not changed protein abundance; not changed structure; increased thermal stability in absence of calcium; decreased thermal stability in presence of calcium; significantly increased RYR2 interaction; increased ryanodine-sensitive calcium-release channel activity; decreased of KCNN2 calcium-activated potassium channel activity; not changed KCNN2 expression; not changed KCNN2 location at membrane.
up seq anno comments: In LQT15; reduction in calcium affinity; not changed protein abundance; not changed structure; significantly decreased thermal stability in presence of calcium; significantly decreased RYR2 interaction; increased ryanodine-sensitive calcium-release channel activity; decreased of KCNN2 calcium-activated potassium channel activity; not changed KCNN2 expression; not changed KCNN2 location at membrane.
up seq anno comments: In LQT15; the mutant has significantly reduced calcium affinity compared to wild-type; calmodulin-RYR2 interaction is defective at low intracellular Ca(2+) concentrations and restored at moderate to high Ca(2+) concentrations; increased RYR2 calcium-release channel activity; decreased calcium-dependent inactivation of L-type calcium channel; not changed protein abundance; not changed structure; significantly reduced ryanodine-sensitive calcium-release channel activity; decreased of KCNN2 calcium-activated potassium channel activity; not changed KCNN2 expression; not changed KCNN2 location at membrane.
up seq anno comments: In LQT16.
up seq anno comments: In LQT16; loss-of-function variant causing impaired negative regulation of high voltage-gated calcium channel activity; impaired regulation of cardiac muscle cell action potential; decreased calcium ion binding.
up seq anno comments: N-acetylalanine
up seq anno comments: N6,N6,N6-trimethyllysine; 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: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by CaMK4
up seq anno comments: Phosphotyrosine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000439932
up seq anno feature ids: PRO_0000439933
up seq anno feature ids: PRO_0000439934
up seq anno feature ids: VAR_069222
up seq anno feature ids: VAR_073275
up seq anno feature ids: VAR_073276
up seq anno feature ids: VAR_073277
up seq anno feature ids: VAR_073279
up seq anno feature ids: VAR_073280
up seq anno feature ids: VAR_073281
up seq anno feature ids: VAR_073282
up seq anno feature ids: VAR_078261
up seq anno feature ids: VAR_078262
up seq anno feature ids: VAR_078263
up seq anno feature ids: VAR_078541
up seq anno feature ids: VAR_078542
up seq anno feature ids: VAR_078543
up seq anno feature ids: VAR_078544
up seq anno feature ids: VAR_083814
up seq anno feature ids: VAR_083815
up seq anno feature ids: VAR_083816

9606:ARPC5L
gene id: 9606:ARPC5L
uniprot id: Q9BPX5
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
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 5-like protein
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000279480

9606:UBE2V1
gene id: 9606:UBE2V1
uniprot id: G3V2F7
uniprot id: Q13404
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: Secondary Structure
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: Turn
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: N-acetylalanine
up seq anno comments: Removed
up seq anno comments: UBC core
up seq anno comments: Ubiquitin-conjugating enzyme E2 variant 1
up seq anno feature ids: PRO_0000082600
up seq anno feature ids: VSP_038032
up seq anno feature ids: VSP_038033
up seq anno feature ids: VSP_038034
up seq anno feature ids: VSP_038035
up seq anno feature ids: VSP_038036
up seq anno feature ids: VSP_044818

9606:MAB21L1
gene id: 9606:MAB21L1
uniprot id: B2R805
uniprot id: F1T0A2
uniprot id: Q13394
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: 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: Strand
up seq anno labels: Turn
up seq anno comments: Decreased protein stability.
up seq anno comments: In COFG.
up seq anno comments: In COFG; unknown pathological significance.
up seq anno comments: Mab-21
up seq anno comments: Mab-21_C
up seq anno comments: Putative nucleotidyltransferase MAB21L1
up seq anno feature ids: PRO_0000312781
up seq anno feature ids: VAR_037568
up seq anno feature ids: VAR_082959
up seq anno feature ids: VAR_082960

9606:BRF1
gene id: 9606:BRF1
uniprot id: A0A024R6P8
uniprot id: Q92994
uniprot id: V9HVY2
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: 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: 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: 1
up seq anno comments: 2
up seq anno comments: Acidic residues
up seq anno comments: BRF1
up seq anno comments: In CFDS.
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 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: In isoform 7 and isoform 8.
up seq anno comments: In isoform 8.
up seq anno comments: In isoform 9.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: TFIIB
up seq anno comments: TFIIB-type
up seq anno comments: Transcription factor IIIB 90 kDa subunit
up seq anno feature ids: PRO_0000119347
up seq anno feature ids: VAR_035723
up seq anno feature ids: VAR_072710
up seq anno feature ids: VAR_072711
up seq anno feature ids: VAR_072712
up seq anno feature ids: VAR_072713
up seq anno feature ids: VSP_006396
up seq anno feature ids: VSP_006397
up seq anno feature ids: VSP_006398
up seq anno feature ids: VSP_006399
up seq anno feature ids: VSP_006400
up seq anno feature ids: VSP_014697
up seq anno feature ids: VSP_043835
up seq anno feature ids: VSP_043836
up seq anno feature ids: VSP_044244
up seq anno feature ids: VSP_045045
up seq anno feature ids: VSP_045046

9606:NKX2-1
gene id: 9606:NKX2-1
uniprot id: P43699
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Homeobox
up seq anno comments: Homeobox protein Nkx-2.1
up seq anno comments: In BHC.
up seq anno comments: In BHC; decrease in DNA-binding; no effect on transcription activation from thyroglobulin/TG, nor from pulmonary surfactant-associated protein C/SFTPC gene promoters.
up seq anno comments: In BHC; loss of transcription activation.
up seq anno comments: In BHC; unknown pathological significance.
up seq anno comments: In CAHTP.
up seq anno comments: In NMTC1; loss of transcription regulatory region DNA binding; decreased transcription factor activity, sequence-specific DNA binding; tested for the thyroglobulin gene; associated with dominant impairment of thyroid-specific genes transcription and increased thyroid cells proliferation.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000049343
up seq anno feature ids: VAR_015188
up seq anno feature ids: VAR_015189
up seq anno feature ids: VAR_034906
up seq anno feature ids: VAR_073040
up seq anno feature ids: VAR_075209
up seq anno feature ids: VAR_075210
up seq anno feature ids: VAR_075769
up seq anno feature ids: VAR_077542
up seq anno feature ids: VSP_037890

9606:OR52R1
gene id: 9606:OR52R1
uniprot id: Q8NGF1
up 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 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 52R1
up seq anno feature ids: PRO_0000150791
up seq anno feature ids: VAR_059061
up seq anno feature ids: VAR_059062
up seq anno feature ids: VAR_059063
up seq anno feature ids: VAR_059064

9606:TMEM265
gene id: 9606:TMEM265
uniprot id: A0A087WTH1
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Transmembrane
up seq anno comments: Helical; Name=1
up seq anno comments: Helical; Name=2
up seq anno comments: Transmembrane protein 265
up seq anno feature ids: PRO_0000432548

9606:JOSD1
gene id: 9606:JOSD1
uniprot id: A0A024R1P5
uniprot id: Q15040
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: Site
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 Variant
up seq anno comments: Josephin
up seq anno comments: Josephin-1
up seq anno comments: Loss of deubiquitination activity, no change in subcellular location.
up seq anno comments: Nucleophile
up seq anno comments: Phosphoserine
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000053839
up seq anno feature ids: VAR_050031

9606:SASS6
gene id: 9606:SASS6
uniprot id: B4DYM7
uniprot id: Q495U0
uniprot id: Q6UVJ0
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: Secondary Structure
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: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Fails to multimerize via N-terminus.
up seq anno comments: In MCPH14; impairs the centriole-forming function of the protein.
up seq anno comments: PISA
up seq anno comments: Phosphoserine
up seq anno comments: SAS-6_N
up seq anno comments: Sas6_CC
up seq anno comments: Spindle assembly abnormal protein 6 homolog
up seq anno feature ids: PRO_0000189972
up seq anno feature ids: VAR_021590
up seq anno feature ids: VAR_073833

9606:ZNF418
gene id: 9606:ZNF418
uniprot id: B7Z1P3
uniprot id: B7Z993
uniprot id: J3KQR4
uniprot id: M0QX82
uniprot id: Q8TF45
up seq anno parent labels: Experimental Information
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: 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
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: KRAB
up seq anno comments: Zinc finger protein 418
up seq anno feature ids: PRO_0000047573

9606:KCNA5
gene id: 9606:KCNA5
uniprot id: P22460
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
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: 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: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: 1
up seq anno comments: 2
up seq anno comments: Abolishes sumoylation; when associated with R-221.
up seq anno comments: Abolishes sumoylation; when associated with R-536.
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Found in a patient with pulmonary arterial hypertension; unknown pathological significance.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
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: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of DLG1 effect on channel current.
up seq anno comments: PDZ-binding
up seq anno comments: Phosphoserine; by PKA
up seq anno comments: Potassium voltage-gated channel subfamily A member 5
up seq anno comments: Pro residues
up seq anno comments: Reduces sumoylation; when associated with N-220.
up seq anno comments: Reduces sumoylation; when associated with N-535.
up seq anno comments: S-palmitoyl cysteine
up seq anno comments: Selectivity filter
up seq anno feature ids: PRO_0000053985
up seq anno feature ids: VAR_035770
up seq anno feature ids: VAR_053856
up seq anno feature ids: VAR_054786
up seq anno feature ids: VAR_079602
up seq anno feature ids: VAR_079603
up seq anno feature ids: VAR_079604
up seq anno feature ids: VAR_079605
up seq anno feature ids: VAR_079606
up seq anno feature ids: VSP_037110

9606:DMD
gene id: 9606:DMD
uniprot id: A0A0S2Z3B5
uniprot id: A0A0S2Z3J7
uniprot id: A7E212
uniprot id: P11532
uniprot id: Q16484
uniprot id: Q4G0X0
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: Secondary Structure
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: Helix
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal 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 labels: Zinc Finger
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: Dystrophin
up seq anno comments: In BMD.
up seq anno comments: In CMD3B.
up seq anno comments: In CMD3B; decreased thermodynamic stability; accelerated unfolding, perturbed protein structure; no effect on anchoring function.
up seq anno comments: In DMD.
up seq anno comments: In DMD; does not affect protein stability; does not affect protein expression at the sarcolemma; interaction with DAG1 is reduced.
up seq anno comments: In DMD; results in highly reduced protein levels and expression at the sarcolemma.
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 a patient with Becker muscular dystrophy.
up seq anno comments: In isoform 11.
up seq anno comments: In isoform 12, isoform 13, isoform 14, isoform 15, isoform 16 and isoform 17.
up seq anno comments: In isoform 17.
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, isoform 7, isoform 8, isoform 9 and isoform 10.
up seq anno comments: In isoform 7, isoform 10 and isoform 16.
up seq anno comments: In isoform 8, isoform 9, isoform 10, isoform 14, isoform 15 and isoform 16.
up seq anno comments: In isoform 9, isoform 13 and isoform 15.
up seq anno comments: In one patient with Becker muscular dystrophy.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
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 15
up seq anno comments: Spectrin 16
up seq anno comments: Spectrin 17
up seq anno comments: Spectrin 18
up seq anno comments: Spectrin 19
up seq anno comments: Spectrin 2
up seq anno comments: Spectrin 20
up seq anno comments: Spectrin 21
up seq anno comments: Spectrin 22
up seq anno comments: Spectrin 23
up seq anno comments: Spectrin 24
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

9606:VPS37D
gene id: 9606:VPS37D
uniprot id: Q86XT2
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 comments: Pro residues
up seq anno comments: VPS37 C-terminal
up seq anno comments: Vacuolar protein sorting-associated protein 37D
up seq anno feature ids: PRO_0000328927

9606:IQGAP3
gene id: 9606:IQGAP3
uniprot id: Q86VI3
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: Secondary Structure
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: Strand
up seq anno labels: Turn
up seq anno comments: Calponin-homology (CH)
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: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Ras GTPase-activating-like protein IQGAP3
up seq anno comments: Ras-GAP
up seq anno feature ids: PRO_0000056651
up seq anno feature ids: VAR_055278
up seq anno feature ids: VAR_055279
up seq anno feature ids: VAR_055280
up seq anno feature ids: VAR_055281
up seq anno feature ids: VAR_055282
up seq anno feature ids: VAR_055283
up seq anno feature ids: VAR_055284

9606:HPSE
gene id: 9606:HPSE
uniprot id: Q9Y251
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: Secondary Structure
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: Helix
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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes processing, secretion and enzyme activity.
up seq anno comments: Alteration of the correct processing of heparanase which results in the cleavage at an upstream site in the linker peptide and no activation of proheparanase.
up seq anno comments: Faster electrophoretic migration typical of a size reduction and important decrease of secretion. Larger size reduction; when associated with Q-162; Q-200; Q-217; Q-238 and Q-459.
up seq anno comments: Faster electrophoretic migration typical of a size reduction and important decrease of secretion. Larger size reduction; when associated with Q-178; Q-200; Q-217; Q-238 and Q-459.
up seq anno comments: Faster electrophoretic migration typical of a size reduction and partial decrease in secretion. Larger size reduction; when associated with Q-162; Q-178; Q-200; Q-238 and Q-459.
up seq anno comments: Faster electrophoretic migration typical of a size reduction and partial decrease in secretion. Larger size reduction; when associated with Q-162; Q-178; Q-217; Q-238 and Q-459.
up seq anno comments: Faster electrophoretic migration typical of a size reduction. Larger size reduction and important decrease of secretion; when associated with Q-162; Q-178; Q-200; Q-217 and Q-238.
up seq anno comments: Faster electrophoretic migration typical of a size reduction. Larger size reduction and important decrease of secretion; when associated with Q-162; Q-178; Q-200; Q-217 and Q-459.
up seq anno comments: Heparanase 50 kDa subunit
up seq anno comments: Heparanase 8 kDa subunit
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 some hepatocellular carcinoma.
up seq anno comments: Linker peptide
up seq anno comments: Loss of heparanase activity.
up seq anno comments: Loss of heparanase activity. No effect on HPSE-mediated cell adhesion.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No association with GS-modified heparin; when associated with K-158.
up seq anno comments: No effect on processing nor secretion. No enzyme activity detected.
up seq anno comments: No effect on processing, secretion nor enzyme activity.
up seq anno comments: No reduction in heparanase activity.
up seq anno comments: Normal processing.
up seq anno comments: Nucleophile
up seq anno comments: Proton donor
up seq anno comments: Strong decrease in heparanase activity.
up seq anno comments: Two-fold increase in the level of secretion upon addition of GS-modified heparin. No association with GS-modified heparin; when associated with K-161.
up seq anno feature ids: PRO_0000042260
up seq anno feature ids: PRO_0000042261
up seq anno feature ids: PRO_0000042262
up seq anno feature ids: VAR_023600
up seq anno feature ids: VAR_068907
up seq anno feature ids: VSP_044537
up seq anno feature ids: VSP_044664
up seq anno feature ids: VSP_053730
up seq anno feature ids: VSP_053731

9606:GRTP1
gene id: 9606:GRTP1
uniprot id: A0A087X0Y1
uniprot id: Q5TC63
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 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:ABHD16B
gene id: 9606:ABHD16B
uniprot id: Q9H3Z7
up 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 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:LACTB2
gene id: 9606:LACTB2
uniprot id: A0A024R811
uniprot id: Q53H82
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: 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: Strand
up seq anno labels: Turn
up seq anno comments: Endoribonuclease LACTB2
up seq anno comments: Lactamase_B
up seq anno comments: Loss of endoribonuclease activity.
up seq anno comments: Loss of endoribonuclease activity. No effect on RNA-binding.
up seq anno comments: Loss of endoribonuclease activity. Strongly decreases RNA-binding.
up seq anno comments: Mildly decreases endoribonuclease activity. No effect on RNA-binding.
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-succinyllysine
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000315743

9606:MAG
gene id: 9606:MAG
uniprot id: P20916
uniprot id: Q53ES7
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: 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: 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: 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
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 V-type
up seq anno comments: In SPG75; alters proper folding; impairs N-glycosylation; retained in the endoplasmic reticulum; increased proteasome-dependent degradation.
up seq anno comments: In SPG75; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Myelin-associated glycoprotein
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: N-linked (GlcNAc...) asparagine; partial
up seq anno comments: Phosphoserine
up seq anno comments: S-palmitoyl cysteine
up seq anno feature ids: PRO_0000014856
up seq anno feature ids: PRO_5004249152
up seq anno feature ids: VAR_059399
up seq anno feature ids: VAR_076224
up seq anno feature ids: VAR_076225
up seq anno feature ids: VAR_077495
up seq anno feature ids: VSP_042688
up seq anno feature ids: VSP_045843

9606:FANCG
gene id: 9606:FANCG
uniprot id: O15287
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 labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno comments: Fanconi anemia group G protein
up seq anno comments: In FANCG; associated with a mild clinical phenotype; disruption of HES1-binding; no effect on FANCA-binding.
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: Loss of BRCA2-, FANCD2- and XRCC3-binding. No effect on complex formation with FANCA and FANCF.
up seq anno comments: No effect on BRCA2-, FANCA-, FANCF-, nor XRCC3-binding.
up seq anno comments: No effect on HES1-, nor FANCA-binding.
up seq anno comments: Phosphoserine
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_0000106292
up seq anno feature ids: VAR_017495
up seq anno feature ids: VAR_020311
up seq anno feature ids: VAR_021103
up seq anno feature ids: VAR_021104
up seq anno feature ids: VAR_021105
up seq anno feature ids: VAR_021106
up seq anno feature ids: VAR_021107
up seq anno feature ids: VAR_021108
up seq anno feature ids: VAR_035864

9606:FITM1
gene id: 9606:FITM1
uniprot id: A5D6W6
up 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 labels: Active Site
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: Fat storage-inducing transmembrane protein 1
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Lumenal
up seq anno feature ids: PRO_0000319575
up seq anno feature ids: VSP_031493

9606:CFAP47
gene id: 9606:CFAP47
uniprot id: Q6ZTR5
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 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: Calponin-homology (CH)
up seq anno comments: Cilia- and flagella-associated protein 47
up seq anno comments: In SPGFX3; unknown pathological significance; loss of protein expression; loss of CFAP65 flagellar location.
up seq anno comments: In SPGFX3; unknown pathological significance; loss of protein expression; loss of CFAP65 flagellar location; unknown pathological significance.
up seq anno comments: In SPGFX3; unknown pathological significance; strongly decreased protein expression.
up seq anno comments: In isoform 1.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 6.
up seq anno feature ids: PRO_0000079731
up seq anno feature ids: VAR_056856
up seq anno feature ids: VAR_060280
up seq anno feature ids: VAR_060281
up seq anno feature ids: VAR_060282
up seq anno feature ids: VAR_082879
up seq anno feature ids: VAR_085272
up seq anno feature ids: VAR_085273
up seq anno feature ids: VAR_085274
up seq anno feature ids: VSP_014372
up seq anno feature ids: VSP_014373
up seq anno feature ids: VSP_057885
up seq anno feature ids: VSP_057886
up seq anno feature ids: VSP_059490
up seq anno feature ids: VSP_059491

9606:TFEC
gene id: 9606:TFEC
uniprot id: O14948
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Sequence Variant
up seq anno labels: Splice Variant
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: Polar residues
up seq anno comments: Transcription factor EC
up seq anno comments: bHLH
up seq anno feature ids: PRO_0000313564
up seq anno feature ids: VAR_037661
up seq anno feature ids: VAR_037662
up seq anno feature ids: VAR_037663
up seq anno feature ids: VSP_030022
up seq anno feature ids: VSP_030023
up seq anno feature ids: VSP_030024
up seq anno feature ids: VSP_030025
up seq anno feature ids: VSP_030026

9606:PTCHD3
gene id: 9606:PTCHD3
uniprot id: A0A8Q3VUI5
uniprot id: Q3KNS1
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 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: 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: N-linked (GlcNAc...) asparagine
up seq anno comments: Patched domain-containing protein 3
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: SSD
up seq anno feature ids: PRO_0000309262
up seq anno feature ids: VAR_036918
up seq anno feature ids: VAR_036919
up seq anno feature ids: VAR_036920
up seq anno feature ids: VAR_036921
up seq anno feature ids: VAR_036922
up seq anno feature ids: VAR_036923
up seq anno feature ids: VAR_036924
up seq anno feature ids: VAR_036925
up seq anno feature ids: VSP_061519
up seq anno feature ids: VSP_061520

9606:SAV1
gene id: 9606:SAV1
uniprot id: B3KTQ1
uniprot id: Q9H4B6
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: Secondary Structure
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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno comments: In a colon cancer cell line.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Protein salvador homolog 1
up seq anno comments: SARAH
up seq anno comments: WW
up seq anno comments: WW 1
up seq anno comments: WW 2
up seq anno feature ids: PRO_0000076060
up seq anno feature ids: VAR_015880

9606:FOXJ3
gene id: 9606:FOXJ3
uniprot id: Q9UPW0
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 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: 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: Fork-head
up seq anno comments: Forkhead box protein J3
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 feature ids: PRO_0000091855
up seq anno feature ids: VAR_039104
up seq anno feature ids: VAR_039105
up seq anno feature ids: VSP_010367

9606:CALR
gene id: 9606:CALR
uniprot id: P27797
uniprot id: V9HW88
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: 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: Mass
up seq anno labels: Modified Residue
up seq anno labels: Motif
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: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Calreticulin
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: Prevents secretion from ER
up seq anno feature ids: PRO_0000004173
up seq anno feature ids: PRO_5014206132

9606:DAD1
gene id: 9606:DAD1
uniprot id: P61803
uniprot id: Q53G02
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: 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 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:NPC2
gene id: 9606:NPC2
uniprot id: A0A024R6C0
uniprot id: P61916
up 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 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: Splice Variant
up seq anno labels: Strand
up seq anno comments: In NPC2.
up seq anno comments: In NPC2; leads to the synthesis of misfolded recombinant proteins that colocalized with an endoplasmic reticulum marker; normally secreted but unable to correct cholesterol storage in NPC2-deficient cells.
up seq anno comments: In NPC2; results in the synthesis of functional recombinant proteins correctly targeted to lysosomes.
up seq anno comments: In NPC2; unable to bind cholesterol.
up seq anno comments: In isoform 2.
up seq anno comments: ML
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: N6-acetyllysine
up seq anno comments: NPC intracellular cholesterol transporter 2
up seq anno feature ids: PRO_0000019854
up seq anno feature ids: PRO_5014214248
up seq anno feature ids: VAR_011899
up seq anno feature ids: VAR_015848
up seq anno feature ids: VAR_015849
up seq anno feature ids: VAR_043303
up seq anno feature ids: VAR_043304
up seq anno feature ids: VAR_043305
up seq anno feature ids: VAR_043306
up seq anno feature ids: VAR_043307
up seq anno feature ids: VSP_056459

9606:HMSD
gene id: 9606:HMSD
uniprot id: A8MTL9
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Signal Peptide
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Serpin-like protein HMSD
up seq anno feature ids: PRO_0000343868

9606:ACAP2
gene id: 9606:ACAP2
uniprot id: Q15057
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 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: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: ANK 1
up seq anno comments: ANK 2
up seq anno comments: ANK 3
up seq anno comments: Arf-GAP
up seq anno comments: Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2
up seq anno comments: BAR
up seq anno comments: C4-type
up seq anno comments: Loss of GAP activity.
up seq anno comments: PH
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000074210

9606:VPS72
gene id: 9606:VPS72
uniprot id: Q15906
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: Secondary Structure
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: 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: Acidic residues
up seq anno comments: Almost abolishes interaction with H2AZ1 and H2BC11. Abolishes interaction with H2AZ1 and H2BC11 and exchange of H2A for H2AZ1 in nucleosomes; when associated with A-29--37-A.
up seq anno comments: Basic and acidic residues
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Highly decreases interaction with H2AZ1 and H2BC11. Abolishes interaction with H2AZ1 and H2BC11 and exchange of H2A for H2AZ1 in nucleosomes; when associated with A-43--46-A.
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: Pro residues
up seq anno comments: Vacuolar protein sorting-associated protein 72 homolog
up seq anno feature ids: PRO_0000066283
up seq anno feature ids: VAR_035803
up seq anno feature ids: VSP_047566

9606:CLPB
gene id: 9606:CLPB
uniprot id: A0A140VK11
uniprot id: Q9H078
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: 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: Repeat
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: AAA
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: Caseinolytic peptidase B protein homolog
up seq anno comments: ClpB_D2-small
up seq anno comments: Decreased ATP hydrolysis activity. Loss of ATP-dependent protein disaggregase activity.
up seq anno comments: In MGCA7A.
up seq anno comments: In MGCA7A; decreased ATP hydrolysis activity; decreased ATP-dependent protein disaggregase activity.
up seq anno comments: In MGCA7B.
up seq anno comments: In MGCA7B; decreased ATP hydrolysis activity; decreased ATP-dependent protein disaggregase activity; not changed mitochondrial respiration.
up seq anno comments: In MGCA7B; increased ATP hydrolysis activity; severely decreased ATP-dependent protein disaggregase activity.
up seq anno comments: In MGCA7B; loss of ATP hydrolysis activity; loss of ATP-dependent protein disaggregase activity.
up seq anno comments: In MGCA7B; unknown pathological significance.
up seq anno comments: In MGCA7B; unknown pathological significance; requires 2 nucleotide substitutions.
up seq anno comments: In SCN9.
up seq anno comments: In SCN9; decreased granulocyte differentiation; decreased ATP hydrolysis activity; decreased ATP-dependent protein disaggregase activity; decreased mitochondrial respiration.
up seq anno comments: In SCN9; decreased granulocyte differentiation; decreased ATP hydrolysis activity; decreased ATP-dependent protein disaggregase activity; does not render cells more sensitive to ER stress-induced apoptosis.
up seq anno comments: In SCN9; decreased granulocyte differentiation; loss of ATP hydrolysis activity; loss of ATP-dependent protein disaggregase activity; decreased mitochondrial respiration.
up seq anno comments: In SCN9; decreased granulocyte differentiation; loss of ATP hydrolysis activity; loss of ATP-dependent protein disaggregase activity; does not render cells more sensitive to ER stress-induced apoptosis.
up seq anno comments: In SCN9; decreased mitochondrial respiration.
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.
up seq anno comments: In isoform 5.
up seq anno comments: Loss of ATP hydrolysis activity. Loss of ATP-dependent protein disaggregase activity.
up seq anno comments: Mitochondrion
up seq anno comments: N6-acetyllysine
up seq anno comments: No effect on ATP hydrolysis activity. Loss of ATP-dependent protein disaggregase activity.
up seq anno comments: Normal ATP hydrolysis activity; normal ATP-dependent protein disaggregase activity.
up seq anno comments: Severely decreased ATP hydrolysis activity. Loss of ATP-dependent protein disaggregase activity.
up seq anno feature ids: PRO_0000191239
up seq anno feature ids: VAR_048740
up seq anno feature ids: VAR_073397
up seq anno feature ids: VAR_073398
up seq anno feature ids: VAR_073399
up seq anno feature ids: VAR_073400
up seq anno feature ids: VAR_073401
up seq anno feature ids: VAR_073402
up seq anno feature ids: VAR_073403
up seq anno feature ids: VAR_073404
up seq anno feature ids: VAR_073405
up seq anno feature ids: VAR_073406
up seq anno feature ids: VAR_073407
up seq anno feature ids: VAR_073408
up seq anno feature ids: VAR_087351
up seq anno feature ids: VAR_087352
up seq anno feature ids: VAR_087353
up seq anno feature ids: VAR_087354
up seq anno feature ids: VAR_087355
up seq anno feature ids: VAR_087356
up seq anno feature ids: VAR_087357
up seq anno feature ids: VAR_087358
up seq anno feature ids: VAR_087359
up seq anno feature ids: VAR_087360
up seq anno feature ids: VAR_087361
up seq anno feature ids: VAR_087362
up seq anno feature ids: VAR_087363
up seq anno feature ids: VAR_087364

9606:SAC3D1
gene id: 9606:SAC3D1
uniprot id: F8WC89
up seq anno parent labels: Region
up seq anno labels: Domain Extent
up seq anno comments: PCI

9606:NUP205
gene id: 9606:NUP205
uniprot id: Q92621
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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 comments: In NPHS13; abrogates interaction with NUP93.
up seq anno comments: N-acetylalanine
up seq anno comments: Nuclear pore complex protein Nup205
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000204859
up seq anno feature ids: VAR_050567
up seq anno feature ids: VAR_050568
up seq anno feature ids: VAR_076471

9606:PAPLN
gene id: 9606:PAPLN
uniprot id: B3KXI1
uniprot id: O95428
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 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: 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: 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:GADL1
gene id: 9606:GADL1
uniprot id: Q6ZQY3
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 labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Acidic amino acid decarboxylase GADL1
up seq anno comments: In isoform 2.
up seq anno comments: N6-(pyridoxal phosphate)lysine
up seq anno feature ids: PRO_0000312224
up seq anno feature ids: VSP_036227

9606:C2orf68
gene id: 9606:C2orf68
uniprot id: L7T9J5
uniprot id: Q2NKX9
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: In isoform 2.
up seq anno comments: UPF0561 protein C2orf68
up seq anno feature ids: PRO_0000328785
up seq anno feature ids: VSP_032792
up seq anno feature ids: VSP_032793

9606:TRIM50
gene id: 9606:TRIM50
uniprot id: B7ZLG2
uniprot id: Q86XT4
up 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: 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: Modified Residue
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 TRIM50
up seq anno comments: In isoform Beta.
up seq anno comments: N6-acetyllysine
up seq anno comments: RING-type
up seq anno feature ids: PRO_0000056274
up seq anno feature ids: VAR_020491
up seq anno feature ids: VAR_085709
up seq anno feature ids: VSP_012088

9606:METRN
gene id: 9606:METRN
uniprot id: Q9UJH8
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Signal Peptide
up seq anno comments: Meteorin
up seq anno feature ids: PRO_0000021680

9606:BUD13
gene id: 9606:BUD13
uniprot id: Q9BRD0
up 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 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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: BUD13 homolog
up seq anno comments: Basic and acidic residues
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: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000287688
up seq anno feature ids: VAR_032343
up seq anno feature ids: VAR_032344
up seq anno feature ids: VAR_032345
up seq anno feature ids: VAR_053908
up seq anno feature ids: VSP_025590

9606:KRT36
gene id: 9606:KRT36
uniprot id: O76013
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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: IF rod
up seq anno comments: In isoform 2.
up seq anno comments: Keratin, type I cuticular Ha6
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:CUTA
gene id: 9606:CUTA
uniprot id: O60888
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
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 comments: In isoform A.
up seq anno comments: In isoform C.
up seq anno comments: Protein CutA
up seq anno feature ids: PRO_0000006379
up seq anno feature ids: VSP_013225
up seq anno feature ids: VSP_013226

9606:EDDM3A
gene id: 9606:EDDM3A
uniprot id: Q14507
uniprot id: W0UTC5
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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 comments: Epididymal secretory protein E3-alpha
up seq anno comments: RNAse_Pc
up seq anno feature ids: PRO_0000021188
up seq anno feature ids: VAR_050968

9606:PCGF1
gene id: 9606:PCGF1
uniprot id: Q9BSM1
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: 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: 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 BCOR and BCORL1.
up seq anno comments: Abolishes repressor activity. May be a PKC phosphorylation site.
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: Marked decrease of repressor activity. May be a kinase phosphorylation site.
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Polycomb group RING finger protein 1
up seq anno comments: RING-type
up seq anno comments: Removed
up seq anno feature ids: PRO_0000277855
up seq anno feature ids: VSP_036393

9606:RAPH1
gene id: 9606:RAPH1
uniprot id: C9K0J5
uniprot id: Q70E73
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: Secondary Structure
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: 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: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform RMO1, isoform RMO1a, isoform RMO1b and isoform RMO1ab.
up seq anno comments: In isoform RMO1a and isoform RMO1ac.
up seq anno comments: In isoform RMO1ab and isoform RMO1abc.
up seq anno comments: In isoform RMO1b and isoform RMO1bc.
up seq anno comments: In isoform RMO1c, isoform RMO1ac, isoform RMO1bc and isoform RMO1abc.
up seq anno comments: N-acetylmethionine
up seq anno comments: PH
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine; by ABL1
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Ras-associated and pleckstrin homology domains-containing protein 1
up seq anno comments: Ras-associating
up seq anno feature ids: PRO_0000181352
up seq anno feature ids: VAR_036009
up seq anno feature ids: VAR_036010
up seq anno feature ids: VSP_035784
up seq anno feature ids: VSP_035785
up seq anno feature ids: VSP_035786
up seq anno feature ids: VSP_035787
up seq anno feature ids: VSP_035788
up seq anno feature ids: VSP_035789

9606:SPATA21
gene id: 9606:SPATA21
uniprot id: Q7Z572
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: 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: EF-hand
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 comments: Pro residues
up seq anno comments: Spermatogenesis-associated protein 21
up seq anno feature ids: PRO_0000330686
up seq anno feature ids: VAR_042711
up seq anno feature ids: VAR_042712
up seq anno feature ids: VAR_042713
up seq anno feature ids: VAR_042714
up seq anno feature ids: VAR_042715
up seq anno feature ids: VSP_053865

9606:NGB
gene id: 9606:NGB
uniprot id: A0M8W9
uniprot id: Q9NPG2
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: 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: Turn
up seq anno comments: GLOBIN
up seq anno comments: Neuroglobin
up seq anno comments: Redox-active
up seq anno comments: distal binding residue
up seq anno comments: proximal binding residue
up seq anno feature ids: PRO_0000053390

9606:SLC47A1
gene id: 9606:SLC47A1
uniprot id: Q96FL8
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 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: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Abolishes membrane subcellular location. Abolishes TEA transport.
up seq anno comments: Cytoplasmic
up seq anno comments: Decreases plasma membrane expression. Decreases TEA and metformin transport. Vmax value for TEA transport is decreased.
up seq anno comments: Decreases plasma membrane expression. Transport of TEA and metformin are reduced by at least 90%.
up seq anno comments: Does not affect membrane subcellular location. Abolishes TEA transport.
up seq anno comments: Does not affect membrane subcellular location. Decreases TEA transport.
up seq anno comments: Does not affect membrane subcellular location. Decreases TEA transport. Higher affinity for cimetidine and reduced affinity to TEA.
up seq anno comments: Does not affect plasma membrane expression. Decreases TEA and metformin transport. Vmax value for TEA transport is decreased. Km value for TEA is increased.
up seq anno comments: Does not affect plasma membrane expression. Does not affect TEA and metformin transport.
up seq anno comments: Does not affect plasma membrane localization. Decreases TEA transport. Km value for TEA is increased. Does not affect metformin transport.
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: Multidrug and toxin extrusion protein 1
up seq anno comments: N-acetylmethionine
up seq anno comments: No change in subcellular location and abolition of MATE1-dependent TEA transport activity.
up seq anno feature ids: PRO_0000312845
up seq anno feature ids: VAR_037587
up seq anno feature ids: VAR_087027
up seq anno feature ids: VAR_087028
up seq anno feature ids: VAR_087029
up seq anno feature ids: VAR_087030
up seq anno feature ids: VAR_087031
up seq anno feature ids: VSP_029903
up seq anno feature ids: VSP_029904
up seq anno feature ids: VSP_029905

9606:GATC
gene id: 9606:GATC
uniprot id: O43716
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno comments: Glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial
up seq anno comments: In COXPD42; decreased protein abundance.
up seq anno feature ids: PRO_0000105365
up seq anno feature ids: VAR_049129
up seq anno feature ids: VAR_083987

9606:METTL1
gene id: 9606:METTL1
uniprot id: Q9UBP6
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: Secondary Structure
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: 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: Able to complement a trm8-delta mutant yeast.
up seq anno comments: Abolished RNA methyltransferase activity.
up seq anno comments: Abolishes ability to complement a trm8-delta mutant yeast.
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine; by PKB and RPS6KA3
up seq anno comments: Removed
up seq anno comments: tRNA (guanine-N(7)-)-methyltransferase
up seq anno feature ids: PRO_0000171431
up seq anno feature ids: VSP_044671
up seq anno feature ids: VSP_044672

9606:WASHC1
gene id: 9606:WASHC1
uniprot id: A8K0Z3
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 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: Sequence Conflict
up seq anno comments: Abolishes ubiquitination by the TRIM27:MAGEL2 E3 ubiquitin ligase complex and impairs retrograde transport.
up seq anno comments: Basic and acidic residues
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Impairs retrograde transport from endosome to Golgi apparatus.
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: WASH complex subunit 1
up seq anno comments: WH2
up seq anno feature ids: PRO_0000329013

9606:SFRP5
gene id: 9606:SFRP5
uniprot id: Q5T4F7
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 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:LEMD2
gene id: 9606:LEMD2
uniprot id: A0A024RCZ1
uniprot id: Q8NC56
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 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: 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: Compromises nuclear envelope enrichment.
up seq anno comments: Disrupts LEMD2 accumulation within the nuclear envelope (NE) and subsequent NE core enrichment in anaphase cells.
up seq anno comments: Does not affect nuclear envelope enrichment.
up seq anno comments: Failure to enrich at mictrotubule-containing nuclear envelope core during anaphase.
up seq anno comments: Helical
up seq anno comments: In CTRCT46.
up seq anno comments: In MARUPS.
up seq anno comments: In isoform 2.
up seq anno comments: LEM
up seq anno comments: LEM domain-containing protein 2
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000285249
up seq anno feature ids: VAR_076992
up seq anno feature ids: VAR_085694
up seq anno feature ids: VSP_044847

9606:THAP10
gene id: 9606:THAP10
uniprot id: Q9P2Z0
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: Zinc Finger
up seq anno comments: Polar residues
up seq anno comments: THAP domain-containing protein 10
up seq anno comments: THAP-type
up seq anno feature ids: PRO_0000068651

9606:GPR161
gene id: 9606:GPR161
uniprot id: A0A0A0MQW8
uniprot id: Q8N6U8
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 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: 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 receptor 161
up seq anno comments: G_PROTEIN_RECEP_F1_2
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: 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_0000069646
up seq anno feature ids: VSP_010560
up seq anno feature ids: VSP_010561
up seq anno feature ids: VSP_035561
up seq anno feature ids: VSP_044778
up seq anno feature ids: VSP_044779
up seq anno feature ids: VSP_045329
up seq anno feature ids: VSP_046299

9606:FBXO16
gene id: 9606:FBXO16
uniprot id: Q8IX29
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Basic and acidic residues
up seq anno comments: F-box
up seq anno comments: F-box only protein 16
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000119896
up seq anno feature ids: VAR_020409
up seq anno feature ids: VAR_024442
up seq anno feature ids: VAR_049041
up seq anno feature ids: VSP_045600

9606:TMPRSS12
gene id: 9606:TMPRSS12
uniprot id: A0A140VJY1
uniprot id: Q86WS5
up 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: Site
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: 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: Charge relay system
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: Peptidase S1
up seq anno comments: Transmembrane protease serine 12
up seq anno feature ids: PRO_0000290438
up seq anno feature ids: PRO_5007491789
up seq anno feature ids: VAR_051848
up seq anno feature ids: VAR_051849
up seq anno feature ids: VAR_051850

9606:LZTFL1
gene id: 9606:LZTFL1
uniprot id: Q9NQ48
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 labels: Chain
up seq anno labels: Coiled-Coil
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 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: 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:RIPK2
gene id: 9606:RIPK2
uniprot id: A0A0S2Z4Z8
uniprot id: O43353
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: Secondary Structure
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: 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: 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 ubiquitination by ZNRF4.
up seq anno comments: Abolishes interaction with NOD1.
up seq anno comments: Abolishes kinase activity.
up seq anno comments: CARD
up seq anno comments: Complete loss of polyubiquitination.
up seq anno comments: Decreased interaction with NGFR.
up seq anno comments: Decreases interaction with NOD2.
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: Phosphoserine
up seq anno comments: Phosphoserine; by autocatalysis; 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: Reduces FAS-mediated apoptosis.
up seq anno feature ids: PRO_0000086608
up seq anno feature ids: VAR_041045
up seq anno feature ids: VAR_041046
up seq anno feature ids: VAR_041047
up seq anno feature ids: VSP_013266

9606:NFKBID
gene id: 9606:NFKBID
uniprot id: Q8NI38
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
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 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: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: NF-kappa-B inhibitor delta
up seq anno feature ids: PRO_0000331114
up seq anno feature ids: VAR_042737
up seq anno feature ids: VSP_033143
up seq anno feature ids: VSP_033144
up seq anno feature ids: VSP_033145

9606:SSNA1
gene id: 9606:SSNA1
uniprot id: A0A024R8G6
uniprot id: O43805
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Does not affect oligomer formation; when associated with S-18 and S-23.
up seq anno comments: Does not affect oligomer formation; when associated with S-18 and S-30.
up seq anno comments: Does not affect oligomer formation; when associated with S-23 and S-30.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: Microtubule nucleation factor SSNA1
up seq anno comments: N-acetylthreonine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000114483
up seq anno feature ids: VAR_036343

9606:CDH9
gene id: 9606:CDH9
uniprot id: Q9ULB4
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 labels: Chain
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: 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 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-9
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: Phosphoserine
up seq anno feature ids: PRO_0000003779
up seq anno feature ids: PRO_0000003780
up seq anno feature ids: VAR_029799
up seq anno feature ids: VAR_029800

9606:PLS3
gene id: 9606:PLS3
uniprot id: B4DPW9
uniprot id: P13797
up 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: 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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
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:DYNLT4
gene id: 9606:DYNLT4
uniprot id: Q5JR98
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno comments: Basic and acidic residues
up seq anno comments: Decreased colocalization with PPP1CC by 27%.
up seq anno comments: Dynein light chain Tctex-type 4
up seq anno comments: Partially reduces the binding to PP1CC.
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000316872

9606:MARCHF3
gene id: 9606:MARCHF3
uniprot id: Q86UD3
up 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: Site
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: Transmembrane
up seq anno labels: Zinc Finger
up seq anno comments: E3 ubiquitin-protein ligase MARCHF3
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: RING-CH-type
up seq anno feature ids: PRO_0000055927
up seq anno feature ids: VAR_053639
up seq anno feature ids: VSP_055451
up seq anno feature ids: VSP_055452

9606:WDR6
gene id: 9606:WDR6
uniprot id: A0A087X295
uniprot id: B4E256
uniprot id: E9PDU5
uniprot id: Q9NNW5
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 labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno comments: N-acetylmethionine
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 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 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 6
up seq anno feature ids: PRO_0000051352

9606:CNN1
gene id: 9606:CNN1
uniprot id: B7Z7E1
uniprot id: P51911
uniprot id: Q53FP8
uniprot id: V9HWA5
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: Secondary Structure
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: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Calponin-1
up seq anno comments: Calponin-homology (CH)
up seq anno comments: Calponin-like 1
up seq anno comments: Calponin-like 2
up seq anno comments: Calponin-like 3
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine; by ROCK2
up seq anno comments: Phosphothreonine; by ROCK2
up seq anno feature ids: PRO_0000204767
up seq anno feature ids: VSP_056948

9606:CD164
gene id: 9606:CD164
uniprot id: D6R9B4
uniprot id: Q04900
up 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 labels: Chain
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: 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: O-linked (Xyl...) (glycosaminoglycan) serine
up seq anno comments: Sialomucin core protein 24
up seq anno feature ids: PRO_0000019292
up seq anno feature ids: VSP_037972
up seq anno feature ids: VSP_037973
up seq anno feature ids: VSP_037974
up seq anno feature ids: VSP_038018
up seq anno feature ids: VSP_038019

9606:PID1
gene id: 9606:PID1
uniprot id: Q7Z2X4
up 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 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.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In variant with duplicated exon 2.
up seq anno comments: PID
up seq anno comments: PTB-containing, cubilin and LRP1-interacting protein
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000274900
up seq anno feature ids: VAR_030361
up seq anno feature ids: VSP_022909
up seq anno feature ids: VSP_022910
up seq anno feature ids: VSP_022911
up seq anno feature ids: VSP_022912

9606:RASSF4
gene id: 9606:RASSF4
uniprot id: Q9H2L5
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 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: 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: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Ras association domain-containing protein 4
up seq anno comments: Ras-associating
up seq anno comments: SARAH
up seq anno feature ids: PRO_0000240398
up seq anno feature ids: VAR_034438
up seq anno feature ids: VAR_034439
up seq anno feature ids: VSP_019355
up seq anno feature ids: VSP_019356
up seq anno feature ids: VSP_019357
up seq anno feature ids: VSP_019358
up seq anno feature ids: VSP_019359

9606:EPS8L3
gene id: 9606:EPS8L3
uniprot id: A8K2J6
uniprot id: Q8TE67
up 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 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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
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: 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:OTOG
gene id: 9606:OTOG
uniprot id: H9KVB3
uniprot id: Q6ZRI0
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 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: 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: 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:KIF21A
gene id: 9606:KIF21A
uniprot id: Q7Z4S6
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: Secondary Structure
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: 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: 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: Does not bind to KANK1 or KANK2.
up seq anno comments: In CFEOM1.
up seq anno comments: In CFEOM1; de novo mutation.
up seq anno comments: In isoform 2, 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 and isoform 6.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: Kinesin motor
up seq anno comments: Kinesin-like protein KIF21A
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 comments: Very weak binding affinity for KANK1 and KANK2.
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_0000125462
up seq anno feature ids: VAR_019399
up seq anno feature ids: VAR_019400
up seq anno feature ids: VAR_019401
up seq anno feature ids: VAR_019402
up seq anno feature ids: VAR_019403
up seq anno feature ids: VAR_019404
up seq anno feature ids: VAR_027021
up seq anno feature ids: VAR_074031
up seq anno feature ids: VAR_074032
up seq anno feature ids: VAR_074033
up seq anno feature ids: VAR_074034
up seq anno feature ids: VSP_010870
up seq anno feature ids: VSP_010871
up seq anno feature ids: VSP_010872
up seq anno feature ids: VSP_046790
up seq anno feature ids: VSP_046791
up seq anno feature ids: VSP_046792

9606:TMEM120B
gene id: 9606:TMEM120B
uniprot id: A0PK00
up seq anno parent labels: Experimental Information
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: Sequence Conflict
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: Transmembrane protein 120B
up seq anno feature ids: PRO_0000309529

9606:TEX12
gene id: 9606:TEX12
uniprot id: A0A024R3E7
uniprot id: Q9BXU0
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 comments: Polar residues
up seq anno comments: Testis-expressed protein 12
up seq anno feature ids: PRO_0000072493

9606:RPS6KC1
gene id: 9606:RPS6KC1
uniprot id: A0A087X1U5
uniprot id: F5H7T0
uniprot id: F6RJM5
uniprot id: Q96S38
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: 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: 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: 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:ZC3H7A
gene id: 9606:ZC3H7A
uniprot id: Q8IWR0
up 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 labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Helix
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 labels: Zinc Finger
up seq anno comments: C2H2-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: In isoform 2.
up seq anno comments: Phosphothreonine
up seq anno comments: TPR 1
up seq anno comments: TPR 2
up seq anno comments: TPR 3
up seq anno comments: Zinc finger CCCH domain-containing protein 7A
up seq anno feature ids: PRO_0000106321
up seq anno feature ids: VAR_052632
up seq anno feature ids: VAR_052633
up seq anno feature ids: VSP_014383

9606:AK9
gene id: 9606:AK9
uniprot id: Q5TCS8
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: 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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Acidic residues
up seq anno comments: Adenylate kinase 9
up seq anno comments: Basic and acidic residues
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 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:ARMC6
gene id: 9606:ARMC6
uniprot id: Q6NXE6
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 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 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: Abolished histidine methylation by METTL9.
up seq anno comments: Armadillo repeat-containing protein 6
up seq anno comments: Does not affect histidine methylation by METTL9.
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Pros-methylhistidine
up seq anno comments: Strongly reduced histidine methylation by METTL9.
up seq anno feature ids: PRO_0000242660
up seq anno feature ids: VSP_040103

9606:MACC1
gene id: 9606:MACC1
uniprot id: Q6ZN28
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 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 comments: Metastasis-associated in colon cancer protein 1
up seq anno comments: Phosphoserine
up seq anno comments: SH3
up seq anno comments: ZU5
up seq anno feature ids: PRO_0000329032
up seq anno feature ids: VAR_042620
up seq anno feature ids: VAR_042621
up seq anno feature ids: VAR_042622
up seq anno feature ids: VAR_042623
up seq anno feature ids: VAR_042624

9606:USP36
gene id: 9606:USP36
uniprot id: A0A024R8V6
uniprot id: Q9P275
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: 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: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Abolishes deubiquitinase activity. No effect on NTRK1 ubiquitination levels.
up seq anno comments: Basic and acidic residues
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: USP
up seq anno comments: Ubiquitin carboxyl-terminal hydrolase 36
up seq anno feature ids: PRO_0000080666
up seq anno feature ids: VAR_037277
up seq anno feature ids: VAR_037278
up seq anno feature ids: VAR_037279
up seq anno feature ids: VAR_037280
up seq anno feature ids: VAR_037281
up seq anno feature ids: VAR_037282
up seq anno feature ids: VAR_058034
up seq anno feature ids: VAR_080193

9606:RWDD1
gene id: 9606:RWDD1
uniprot id: Q9H446
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: Secondary Structure
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: Sequence Conflict
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: In isoform 2.
up seq anno comments: N-acetylthreonine
up seq anno comments: Phosphothreonine
up seq anno comments: RWD
up seq anno comments: RWD domain-containing protein 1
up seq anno comments: Removed
up seq anno feature ids: PRO_0000097540
up seq anno feature ids: VSP_044500

9606:IL6ST
gene id: 9606:IL6ST
uniprot id: A0A0A0N0L2
uniprot id: P40189
uniprot id: Q17RA0
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: Secondary Structure
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: 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 increased levels of soluble IL6RB in blood serum.
up seq anno comments: Box 1 motif
up seq anno comments: Cytoplasmic
up seq anno comments: Does not induce ligand-independent activation.
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: Found in patient with lung cancer; unknown pathological significance.
up seq anno comments: Helical
up seq anno comments: Ig-like C2-type
up seq anno comments: In HIES4A; results in impaired cytokine-mediated signaling pathway with loss of response to IL-6, IL-11, OSM and LIF and a weak response to IL-27.
up seq anno comments: In HIES4A; results in impaired cytokine-mediated signaling pathway with loss of response to IL-6, IL-11, OSM, LIF and a weak response to IL-27.
up seq anno comments: In HIES4B; results in defective cytokine-mediated signaling pathway with loss of response to IL-6, IL-11, IL-27, OSM but not LIF.
up seq anno comments: In HIES4B; results in defective cytokine-mediated signaling pathway.
up seq anno comments: In HIES4B; results in impaired cytokine-mediated signaling pathway with loss of response to IL-6, IL-11, IL-27 and reduced response to OSM, CNTF and LIF.
up seq anno comments: In IMD94; results in constitutively active IL6-mediated signaling and constitutive phosphorylation of STAT3 in patient cells.
up seq anno comments: In STWS2; results in impaired cytokine-mediated signaling pathway with loss of response to IL-6, IL-11, IL-27, OSM and LIF; does not localize to the cell membrane.
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: Increases cell surface expression.
up seq anno comments: Induces ligand-independent activation.
up seq anno comments: Interleukin-6 receptor subunit beta
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: Refractory to inhibition by SOCS3.
up seq anno comments: Results in impaired cytokine-mediated signaling pathway with loss of response to IL-6 and IL-11. Weak response to IL-27, OSM and LIF.
up seq anno comments: WSXWS motif
up seq anno feature ids: PRO_0000010899
up seq anno feature ids: PRO_5001967426
up seq anno feature ids: PRO_5014308179
up seq anno feature ids: VAR_036165
up seq anno feature ids: VAR_047782
up seq anno feature ids: VAR_047783
up seq anno feature ids: VAR_047784
up seq anno feature ids: VAR_047785
up seq anno feature ids: VAR_047786
up seq anno feature ids: VAR_074654
up seq anno feature ids: VAR_083197
up seq anno feature ids: VAR_083198
up seq anno feature ids: VAR_086950
up seq anno feature ids: VAR_086951
up seq anno feature ids: VAR_086952
up seq anno feature ids: VAR_086953
up seq anno feature ids: VAR_086954
up seq anno feature ids: VAR_086955
up seq anno feature ids: VSP_001684
up seq anno feature ids: VSP_001685

9606:MBNL1
gene id: 9606:MBNL1
uniprot id: Q86VM6
uniprot id: Q9NR56
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: Secondary Structure
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 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 DM1; unknown pathological significance.
up seq anno comments: In isoform 2, isoform 3, isoform 4, isoform 5 and isoform 6.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: In isoform 4, isoform 5 and isoform 6.
up seq anno comments: In isoform 6.
up seq anno comments: In isoform 7.
up seq anno comments: Muscleblind-like protein 1
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000089178
up seq anno feature ids: VAR_076508
up seq anno feature ids: VAR_076509
up seq anno feature ids: VAR_076510
up seq anno feature ids: VSP_006429
up seq anno feature ids: VSP_006430
up seq anno feature ids: VSP_043799
up seq anno feature ids: VSP_043800
up seq anno feature ids: VSP_044903

9606:CD200
gene id: 9606:CD200
uniprot id: B4DDZ6
uniprot id: F8W7G1
uniprot id: P41217
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 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
up seq anno comments: Ig-like V-type
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: OX-2 membrane glycoprotein
up seq anno comments: ig
up seq anno feature ids: PRO_0000015124
up seq anno feature ids: VAR_027605
up seq anno feature ids: VAR_027606
up seq anno feature ids: VAR_056110
up seq anno feature ids: VSP_002613
up seq anno feature ids: VSP_040027

9606:FLVCR2
gene id: 9606:FLVCR2
uniprot id: Q9UPI3
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: 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: 5
up seq anno comments: 6; approximate
up seq anno comments: 7; approximate
up seq anno comments: 8
up seq anno comments: Basic and acidic residues
up seq anno comments: Feline leukemia virus subgroup C receptor-related protein 2
up seq anno comments: Helical
up seq anno comments: In PVHH.
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000084846
up seq anno feature ids: VAR_018271
up seq anno feature ids: VAR_050299
up seq anno feature ids: VAR_064043
up seq anno feature ids: VAR_064044
up seq anno feature ids: VAR_064045
up seq anno feature ids: VAR_064410
up seq anno feature ids: VAR_064411
up seq anno feature ids: VAR_064412
up seq anno feature ids: VAR_064413
up seq anno feature ids: VAR_064414
up seq anno feature ids: VAR_064415
up seq anno feature ids: VSP_043048
up seq anno feature ids: VSP_043049

9606:SEMA4B
gene id: 9606:SEMA4B
uniprot id: Q9NPR2
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 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: 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
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: PSI
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Sema
up seq anno comments: Semaphorin-4B
up seq anno feature ids: PRO_0000032324
up seq anno feature ids: VAR_010758
up seq anno feature ids: VSP_012460

9606:SV2C
gene id: 9606:SV2C
uniprot id: B3KT41
uniprot id: Q496J9
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: Secondary Structure
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: 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: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Decreased molecular weight probably due to glycosylation loss, decreased binding to BoNT/A HC.
up seq anno comments: Decreased molecular weight probably due to glycosylation loss, decreased binding to BoNT/A HC. Greater reduction in weight; when associated with Q-565.
up seq anno comments: Decreased molecular weight probably due to glycosylation loss, no change in binding to BoNT/A heavy chain. Greater reduction in weight; when associated with Q-559.
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: MFS
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No change in interaction with C.botulinum neurotoxin type A heavy chain (botA, BoNT/A HC). Decreased molecular weight probably due to glycosylation loss, decreased interaction with BoNT/A HC.
up seq anno comments: No longer interacts with BoNT/A HC.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Synaptic vesicle glycoprotein 2C
up seq anno feature ids: PRO_0000239771
up seq anno feature ids: VAR_050303
up seq anno feature ids: VAR_050304

9606:MOV10
gene id: 9606:MOV10
uniprot id: Q5JR04
uniprot id: Q9HCE1
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: 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: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: AAA_12
up seq anno comments: Abolishes 5' to 3' directional unwinding activity.
up seq anno comments: Abolishes 5' to 3' directional unwinding activity. Abolishes inhibition of RNA chaperonne activity of LIRE1. No effect on interaction with UPF1.
up seq anno comments: About 70% more antiviral activity against encephalomyocarditis virus replication; when associated with A-129.
up seq anno comments: About 70% more antiviral activity against encephalomyocarditis virus replication; when associated with A-869.
up seq anno comments: Almost complete lost of the ability to prevent the degradation of APOBEC3G mediated by HIV-1 Vif. Attenuated anti-HBV activity.
up seq anno comments: Attenuated anti-HBV activity.
up seq anno comments: DEAG box
up seq anno comments: Helicase MOV-10
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 feature ids: PRO_0000080704
up seq anno feature ids: VSP_010943
up seq anno feature ids: VSP_010944
up seq anno feature ids: VSP_037305
up seq anno feature ids: VSP_037306

9606:SMTN
gene id: 9606:SMTN
uniprot id: A0A087WVP4
uniprot id: A0A087X1R1
uniprot id: B4DI56
uniprot id: B4E229
uniprot id: P53814
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: 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: 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: Basic and acidic residues
up seq anno comments: Calponin-homology (CH)
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform A.
up seq anno comments: In isoform B2.
up seq anno comments: In isoform B3.
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 comments: Smoothelin
up seq anno feature ids: PRO_0000071976
up seq anno feature ids: VAR_035657
up seq anno feature ids: VAR_035658
up seq anno feature ids: VAR_038785
up seq anno feature ids: VAR_038786
up seq anno feature ids: VAR_038787
up seq anno feature ids: VAR_038788
up seq anno feature ids: VAR_062223
up seq anno feature ids: VSP_004398
up seq anno feature ids: VSP_007020
up seq anno feature ids: VSP_031242

9606:PEPD
gene id: 9606:PEPD
uniprot id: A0A140VJR2
uniprot id: P12955
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: Secondary Structure
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: Mass
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: AMP_N
up seq anno comments: In PD.
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: Removed
up seq anno comments: Xaa-Pro dipeptidase
up seq anno feature ids: PRO_0000185087
up seq anno feature ids: VAR_004404
up seq anno feature ids: VAR_004405
up seq anno feature ids: VAR_004406
up seq anno feature ids: VAR_011614
up seq anno feature ids: VAR_011615
up seq anno feature ids: VAR_014723
up seq anno feature ids: VAR_051574
up seq anno feature ids: VSP_042629
up seq anno feature ids: VSP_045370

9606:ADGRL4
gene id: 9606:ADGRL4
uniprot id: Q9HBW9
up 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 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: Adhesion G protein-coupled receptor L4
up seq anno comments: Cytoplasmic
up seq anno comments: EGF-like 1
up seq anno comments: EGF-like 2; calcium-binding
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: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000012870
up seq anno feature ids: VAR_047072
up seq anno feature ids: VAR_047073
up seq anno feature ids: VAR_047074

9606:OVGP1
gene id: 9606:OVGP1
uniprot id: Q12889
uniprot id: Q86YN0
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: 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: GH18
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Oviduct-specific glycoprotein
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000011973
up seq anno feature ids: PRO_5004300531
up seq anno feature ids: VAR_016109
up seq anno feature ids: VAR_024459
up seq anno feature ids: VAR_024460
up seq anno feature ids: VAR_035752
up seq anno feature ids: VAR_049199
up seq anno feature ids: VAR_049200
up seq anno feature ids: VAR_049201
up seq anno feature ids: VAR_049202
up seq anno feature ids: VAR_061190

9606:ZNF700
gene id: 9606:ZNF700
uniprot id: A0A087WVH9
uniprot id: Q9H0M5
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
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; degenerate
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 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 700
up seq anno feature ids: PRO_0000233280
up seq anno feature ids: VAR_033591
up seq anno feature ids: VAR_052897

9606:C8orf48
gene id: 9606:C8orf48
uniprot id: Q96LL4
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Polar residues
up seq anno comments: Uncharacterized protein C8orf48
up seq anno feature ids: PRO_0000285631
up seq anno feature ids: VAR_063134
up seq anno feature ids: VAR_063135

9606:SPATA7
gene id: 9606:SPATA7
uniprot id: Q9P0W8
uniprot id: V9HVY9
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 labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
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:GNB1L
gene id: 9606:GNB1L
uniprot id: Q9BYB4
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Guanine nucleotide-binding protein subunit beta-like protein 1
up seq anno comments: In a breast 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_0000051008
up seq anno feature ids: VAR_024698
up seq anno feature ids: VAR_035882
up seq anno feature ids: VAR_053394
up seq anno feature ids: VAR_053395
up seq anno feature ids: VSP_006767
up seq anno feature ids: VSP_006768

9606:FAHD2B
gene id: 9606:FAHD2B
uniprot id: B4DHE4
uniprot id: Q6P2I3
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: 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: FAA_hydrolase
up seq anno comments: Fumarylacetoacetate hydrolase domain-containing protein 2B
up seq anno feature ids: PRO_0000289796

9606:SLC10A7
gene id: 9606:SLC10A7
uniprot id: Q0GE19
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 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:RNF144B
gene id: 9606:RNF144B
uniprot id: Q7Z419
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: Site
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 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 feature ids: PRO_0000055911
up seq anno feature ids: VSP_055853
up seq anno feature ids: VSP_055854

9606:GPR32
gene id: 9606:GPR32
uniprot id: H9NIL6
uniprot id: O75388
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 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_RECEP_F1_2
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 32
up seq anno feature ids: PRO_0000069552
up seq anno feature ids: VAR_011860

9606:CIDEB
gene id: 9606:CIDEB
uniprot id: Q9UHD4
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: Secondary Structure
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 labels: Turn
up seq anno comments: CIDE-N
up seq anno comments: Cell death activator CIDE-B
up seq anno feature ids: PRO_0000144720

9606:FGF5
gene id: 9606:FGF5
uniprot id: A0A7U3L5M4
uniprot id: P12034
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Fibroblast growth factor
up seq anno comments: Fibroblast growth factor 5
up seq anno comments: In TCMGLY.
up seq anno comments: In isoform Short.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000008958
up seq anno feature ids: PRO_5031604619
up seq anno feature ids: VAR_025174
up seq anno feature ids: VAR_072566
up seq anno feature ids: VSP_001518
up seq anno feature ids: VSP_001519

9606:PTGER2
gene id: 9606:PTGER2
uniprot id: P43116
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 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: 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: Prostaglandin E2 receptor EP2 subtype
up seq anno feature ids: PRO_0000070054

9606:MPI
gene id: 9606:MPI
uniprot id: B4DW50
uniprot id: F5GX71
uniprot id: H3BPB8
uniprot id: H3BPP3
uniprot id: P34949
uniprot id: Q8NHZ6
up 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: 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: 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 CDG1B.
up seq anno comments: In isoform 2.
up seq anno comments: Mannose-6-phosphate isomerase
up seq anno comments: N-acetylalanine
up seq anno comments: PMI_typeI_C
up seq anno comments: PMI_typeI_cat
up seq anno comments: PMI_typeI_hel
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000194235
up seq anno feature ids: VAR_012338
up seq anno feature ids: VAR_012339
up seq anno feature ids: VAR_012340
up seq anno feature ids: VAR_012345
up seq anno feature ids: VAR_022516
up seq anno feature ids: VAR_022517
up seq anno feature ids: VAR_022518
up seq anno feature ids: VAR_022519
up seq anno feature ids: VAR_022520
up seq anno feature ids: VAR_022521
up seq anno feature ids: VAR_022522
up seq anno feature ids: VAR_022523
up seq anno feature ids: VAR_022524
up seq anno feature ids: VSP_013357

9606:HMGN4
gene id: 9606:HMGN4
uniprot id: A0A024R046
uniprot id: O00479
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: Modified Residue
up seq anno comments: ADP-ribosylserine
up seq anno comments: Basic and acidic residues
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:TMEM108
gene id: 9606:TMEM108
uniprot id: B3KT64
uniprot id: Q6UXF1
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 labels: Chain
up seq anno labels: Compositionally Biased 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: Helical
up seq anno comments: In isoform 2.
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:BGLAP
gene id: 9606:BGLAP
uniprot id: P02818
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: 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: 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 comments: 4-carboxyglutamate
up seq anno comments: 4-carboxyglutamate; partial
up seq anno comments: Gla
up seq anno comments: Osteocalcin
up seq anno feature ids: PRO_0000011086
up seq anno feature ids: PRO_0000011087
up seq anno feature ids: VAR_038743

9606:TP53TG3F
gene id: 9606:TP53TG3F
uniprot id: Q9ULZ0
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Splice Variant
up seq anno comments: In isoform 1.
up seq anno comments: In isoform 3.
up seq anno comments: TP53-target gene 3 protein
up seq anno feature ids: PRO_0000328983
up seq anno feature ids: VSP_060197
up seq anno feature ids: VSP_060198
up seq anno feature ids: VSP_060199

9606:AMPH
gene id: 9606:AMPH
uniprot id: P49418
up 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 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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Amphiphysin
up seq anno comments: BAR
up seq anno comments: Basic and acidic residues
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 comments: SH3
up seq anno feature ids: PRO_0000192947
up seq anno feature ids: VAR_053004
up seq anno feature ids: VAR_053005
up seq anno feature ids: VAR_053006
up seq anno feature ids: VSP_000245

9606:ATOH1
gene id: 9606:ATOH1
uniprot id: Q92858
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Transcription factor ATOH1
up seq anno comments: bHLH
up seq anno feature ids: PRO_0000127139
up seq anno feature ids: VAR_049539

9606:NMBR
gene id: 9606:NMBR
uniprot id: P28336
up 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 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: 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: Neuromedin-B receptor
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: S-palmitoyl cysteine
up seq anno feature ids: PRO_0000069903
up seq anno feature ids: VAR_044513

9606:KLHL13
gene id: 9606:KLHL13
uniprot id: B7ZB44
uniprot id: Q96HC9
uniprot id: Q9P2N7
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 labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Non-terminal 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 comments: BACK
up seq anno comments: BTB
up seq anno comments: Found in a renal cell 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: 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 13
up seq anno feature ids: PRO_0000119115
up seq anno feature ids: VAR_064725
up seq anno feature ids: VAR_069423
up seq anno feature ids: VSP_037530
up seq anno feature ids: VSP_037531
up seq anno feature ids: VSP_037532
up seq anno feature ids: VSP_037533

9606:DERA
gene id: 9606:DERA
uniprot id: E9PPM8
uniprot id: Q9Y315
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Site
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno comments: Abolishes deoxyribose-phosphate aldolase activity.
up seq anno comments: Deoxyribose-phosphate aldolase
up seq anno comments: Proton donor/acceptor
up seq anno comments: Schiff-base intermediate with acetaldehyde
up seq anno feature ids: PRO_0000057310

9606:APOE
gene id: 9606:APOE
uniprot id: A0A0S2Z3D5
uniprot id: P02649
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: Secondary Structure
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: 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: 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: 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: Apolipoprotein E
up seq anno comments: Changes the plasma lipoprotein distribution of ApoE4 to the HDL.
up seq anno comments: Confirmed at protein level.
up seq anno comments: Decreased binding to LDL receptor.
up seq anno comments: Found in a patient with hypercholesterolemia; unknown pathological significance; ApoE1 Weisgraber.
up seq anno comments: Found in a patient with hypercholesterolemia; unknown pathological significance; ApoE4 Freiburg.
up seq anno comments: In ApoE1 HE; requires 2 nucleotide substitutions.
up seq anno comments: In ApoE2 Dunedin.
up seq anno comments: In ApoE2 Fukuoka.
up seq anno comments: In ApoE2 WG.
up seq anno comments: In ApoE2-type; no hyperlipidemia.
up seq anno comments: In ApoE3 Basel.
up seq anno comments: In ApoE3 Freiburg.
up seq anno comments: In ApoE3 HB.
up seq anno comments: In ApoE3*.
up seq anno comments: In ApoE3*; decreased binding to LDL receptor.
up seq anno comments: In ApoE4 HG.
up seq anno comments: In ApoE4 PD.
up seq anno comments: In ApoE5 Frankfurt.
up seq anno comments: In ApoE5-type; no hyperlipidemia.
up seq anno comments: In ApoE5; associated with hyperlipoproteinemia and atherosclerosis; increased binding to LDL receptor.
up seq anno comments: In HLPP3 and AD2; ApoE4, ApoE3 Leiden, ApoE3**, ApoE5-Frankfurt and ApoE5-type; ApoE3 Leiden and ApoE3** are associated with HLPP3; ApoE4 is associated with AD2; changed protein structure; no effect on binding to LDL receptor; decreased association with HDL and enrichment in VLDL and IDL; may prevent the interaction with MAP2 and MAPT; changed interaction with APP/A4 amyloid-beta peptide; increased ability to induce APP transcription; increased C-terminal proteolytic processing in neurons; decreased function in neurite outgrowth; ApoE4 is associated with higher susceptibility to SARS-CoV-2 infection in neurons and astrocytes.
up seq anno comments: In HLPP3; ApoE1 Harrisburg; decreased binding to LDL receptor; probable dominant negative effect; decreased in vitro binding to heparin.
up seq anno comments: In HLPP3; ApoE2 Christchurch; decreased binding to LDL receptor.
up seq anno comments: In HLPP3; ApoE2**.
up seq anno comments: In HLPP3; ApoE2, ApoE2 Fukuoka, ApoE1 Weisgraber and ApoE3**; ApoE3** is associated with HLPP3; changed protein structure; decreased binding to LDLR and other lipoprotein receptors; decreased in vitro binding to heparin; no effect on distribution among plasma lipoproteins.
up seq anno comments: In HLPP3; ApoE2-type.
up seq anno comments: In HLPP3; ApoE3 Leiden; no effect on glycosylation.
up seq anno comments: In HLPP3; ApoE3 Washington.
up seq anno comments: In HLPP3; ApoE3**.
up seq anno comments: In HLPP3; ApoE4 Philadelphia, ApoE5 French-Canadian and ApoE5-type; only ApoE4 Philadelphia is associated with HLPP3.
up seq anno comments: In HLPP3; ApoE7 Suita.
up seq anno comments: In HLPP3; also found in a patient with hypercholesterolemia; ApoE4 Philadelphia and ApoE2-type.
up seq anno comments: In HLPP3; unknown pathological significance; ApoE Kochi.
up seq anno comments: In LPG; ApoE2 Kyoto.
up seq anno comments: In LPG; ApoE2 Sendai; decreased binding to LDL receptor; induces intraglomerular deposition of ApoE-containing lipoproteins.
up seq anno comments: In SBHD; also found in patients with a diagnosis of familial combined hyperlipidemia.
up seq anno comments: Increased binding to LDL receptor; when associated with A-167.
up seq anno comments: Increased binding to LDL receptor; when associated with R-157.
up seq anno comments: Loss of O-glycosylation.
up seq anno comments: Methionine sulfoxide
up seq anno comments: N-linked (Glc) (glycation) lysine
up seq anno comments: No effect on plasma lipoprotein distribution.
up seq anno comments: O-linked (GalNAc...) serine
up seq anno comments: O-linked (GalNAc...) threonine
up seq anno comments: Phosphoserine; by FAM20C
up seq anno comments: Restores the LDL receptor binding activity of ApoE2.
up seq anno feature ids: PRO_0000001987
up seq anno feature ids: PRO_5006608239

9606:XPOT
gene id: 9606:XPOT
uniprot id: O43592
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 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 comments: Abolishes binding to tRNA. Does not abolish shuttling behavior.
up seq anno comments: Does not abolish binding to tRNA. Does not abolish shuttling behavior.
up seq anno comments: Exportin-T
up seq anno comments: N-acetylmethionine
up seq anno comments: N6-acetyllysine
up seq anno feature ids: PRO_0000204716
up seq anno feature ids: VAR_026528
up seq anno feature ids: VAR_048962

9606:IDH3A
gene id: 9606:IDH3A
uniprot id: B7Z9J8
uniprot id: P50213
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: Secondary Structure
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: 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: Transit Peptide
up seq anno labels: Turn
up seq anno comments: Complete loss of activity of the heterotetramer, heterodimer composed of IDH3A and IDH3B subunits and the heterodimer composed of IDH3A and IDH3G subunits with no effect on their oligomeric states.
up seq anno comments: Complete loss of the activation of the heterodimer composed of IDH3A and IDH3G subunits by citrate and ADP.
up seq anno comments: In RP90.
up seq anno comments: In RP90; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: Iso_dh
up seq anno comments: Isocitrate dehydrogenase [NAD] subunit alpha, 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 comments: No significant effect on the activation of the heterodimer composed of IDH3A and IDH3G subunits by citrate and ADP.
up seq anno comments: Phosphothreonine
up seq anno comments: Significantly impairs the activation of the heterodimer composed of IDH3A and IDH3G subunits by citrate and ADP.
up seq anno comments: Significantly impairs the activation of the heterodimer composed of IDH3A and IDH3G subunits by citrate.
up seq anno feature ids: PRO_0000014436
up seq anno feature ids: VAR_084723
up seq anno feature ids: VAR_084724
up seq anno feature ids: VAR_084725
up seq anno feature ids: VAR_084726
up seq anno feature ids: VAR_084727
up seq anno feature ids: VAR_084728
up seq anno feature ids: VAR_084729
up seq anno feature ids: VAR_084730
up seq anno feature ids: VSP_014516

9606:CLK2
gene id: 9606:CLK2
uniprot id: A8K7I0
uniprot id: B7Z8N6
uniprot id: P49760
up 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: 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: 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: Dual specificity protein kinase CLK2
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 PKB/AKT1
up seq anno comments: Phosphoserine; by autocatalysis
up seq anno comments: Phosphothreonine; by PKB/AKT1
up seq anno comments: Phosphothreonine; by PKB/AKT2
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 feature ids: PRO_0000085868
up seq anno feature ids: VSP_004856
up seq anno feature ids: VSP_004857
up seq anno feature ids: VSP_038744

9606:PRDX6
gene id: 9606:PRDX6
uniprot id: P30041
uniprot id: V9HWC7
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: Site
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: 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: 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: Thioredoxin
up seq anno feature ids: PRO_0000135102

9606:MCAM
gene id: 9606:MCAM
uniprot id: A0A024R3I5
uniprot id: P43121
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: Secondary Structure
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: 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 surface glycoprotein MUC18
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 C2-type 3
up seq anno comments: Ig-like V-type 1
up seq anno comments: Ig-like V-type 2
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_0000014891
up seq anno feature ids: PRO_5014214219
up seq anno feature ids: VAR_049915
up seq anno feature ids: VSP_016938
up seq anno feature ids: VSP_016939

9606:YWHAZ
gene id: 9606:YWHAZ
uniprot id: D0PNI1
uniprot id: P63104
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: Secondary Structure
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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Turn
up seq anno comments: 14-3-3 protein zeta/delta
up seq anno comments: 14_3_3
up seq anno comments: Abolishes lamellipodia formation and induces filopodia formation.
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; gain-of-function mutation in signal transduction; changed regulation of ERK1 and ERK2 cascade; increased interaction with BRAF; increased interaction with RAF1; loss of phosphorylation by CK1 at Thr-232.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of homodimerization. Reduced dimerization with YWHAE. Significantly reduced interaction with P53. No enhancement of P53 transcriptional activity.
up seq anno comments: Loss of interaction with NOXA1.
up seq anno comments: Loss of phosphorylation by CK1.
up seq anno comments: Loss of sphingosine-activated PKA phosphorylation. Promotes homodimerization and heterodimerization with YWHAE. Enhanced transcriptional activity of P53.
up seq anno comments: N-acetylmethionine
up seq anno comments: N6-acetyllysine
up seq anno comments: On DNA damage, loss of MAPK8-mediated phosphorylation. Loss of binding ABL1. Attenuates ABL1-mediated apoptosis. No loss of interaction with BAX under stress conditions. Inhibits translocation of BAX to mitochondria.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by MAPK8
up seq anno comments: Phosphoserine; by PKA and PKB/AKT1
up seq anno comments: Phosphothreonine; by CK1
up seq anno feature ids: PRO_0000058627
up seq anno feature ids: VAR_082640
up seq anno feature ids: VAR_082641
up seq anno feature ids: VAR_082642
up seq anno feature ids: VAR_082643
up seq anno feature ids: VSP_047505

9606:SLC13A5
gene id: 9606:SLC13A5
uniprot id: Q68D44
uniprot id: Q86YT5
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: Secondary Structure
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 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: Helical
up seq anno comments: In DEE25; loss of function in citrate transport; loss of localization to plasma membrane.
up seq anno comments: In DEE25; loss of function in citrate transport; no effect on localization to plasma membrane.
up seq anno comments: In DEE25; loss of localization to plasma membrane; loss of function in citrate transport.
up seq anno comments: In DEE25; no loss of localization to plasma membrane; loss of function in citrate 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: Loss of localization to plasma membrane; loss of function in citrate transport.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Na(+)/citrate cotransporter
up seq anno comments: No effect on its function in citrate transport.
up seq anno comments: No effect on localization to plasma membrane; no effect on its function in citrate transport.
up seq anno comments: No effect on localization to plasma membrane; reduced function in citrate transport; increased Km and Vmax values compared with that of wild type with citrate as substrate.
up seq anno comments: Significant loss of function in citrate transport.
up seq anno feature ids: PRO_0000260101
up seq anno feature ids: VAR_078912
up seq anno feature ids: VAR_078913
up seq anno feature ids: VAR_078914
up seq anno feature ids: VAR_078915
up seq anno feature ids: VAR_078916
up seq anno feature ids: VAR_078917
up seq anno feature ids: VAR_078918
up seq anno feature ids: VAR_084747
up seq anno feature ids: VAR_084748
up seq anno feature ids: VAR_084749
up seq anno feature ids: VAR_084750
up seq anno feature ids: VSP_043098
up seq anno feature ids: VSP_054910
up seq anno feature ids: VSP_055652

9606:SREBF1
gene id: 9606:SREBF1
uniprot id: B3KR77
uniprot id: P36956
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: Secondary Structure
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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: 9aaTAD
up seq anno comments: Abolished transactivation activity.
up seq anno comments: BHLH
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Helical
up seq anno comments: In HMD.
up seq anno comments: In IFAP2 and HMD; loss of sterol-regulated protein processing; loss of localization to the nucleus; decreased DNA-binding transcription factor activity RNA polymerase II-specific.
up seq anno comments: In IFAP2; loss of sterol-regulated protein processing; loss of localization to the nucleus; decreased DNA-binding transcription factor activity RNA polymerase II-specific.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform SREBP-1B and isoform SREBP-1C.
up seq anno comments: In isoform SREBP-1C and isoform SREBP-1cDelta.
up seq anno comments: In isoform SREBP-1aDelta and isoform SREBP-1cDelta.
up seq anno comments: Loss of proteolytic processing in response to low sterol.
up seq anno comments: Loss of proteolytic processing in response to low sterol. Transcriptionally inactive.
up seq anno comments: Lumenal
up seq anno comments: No effect on proteolytic processing.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by AMPK
up seq anno comments: Phosphoserine; by SIK1
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Processed sterol regulatory element-binding protein 1
up seq anno comments: Sterol regulatory element-binding protein 1
up seq anno comments: Strong reduction of proteolytic processing in response to low sterol.
up seq anno comments: bHLH
up seq anno feature ids: PRO_0000127447
up seq anno feature ids: PRO_0000314029
up seq anno feature ids: VAR_038468
up seq anno feature ids: VAR_038469
up seq anno feature ids: VAR_038470
up seq anno feature ids: VAR_038471
up seq anno feature ids: VAR_038472
up seq anno feature ids: VAR_038473
up seq anno feature ids: VAR_038474
up seq anno feature ids: VAR_038475
up seq anno feature ids: VAR_085079
up seq anno feature ids: VAR_085080
up seq anno feature ids: VAR_085081
up seq anno feature ids: VAR_085082
up seq anno feature ids: VSP_002149
up seq anno feature ids: VSP_002150
up seq anno feature ids: VSP_030859
up seq anno feature ids: VSP_047598
up seq anno feature ids: VSP_047599

9606:H2BC5
gene id: 9606:H2BC5
uniprot id: A0A024QZZ7
uniprot id: P58876
uniprot id: P62807
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: Secondary Structure
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: 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: 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
up seq anno comments: Histone H2B type 1-C/E/F/G/I
up seq anno comments: Histone H2B type 1-D
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: PRO_0000071827
up seq anno feature ids: VAR_055887

9606:LCTL
gene id: 9606:LCTL
uniprot id: Q6UWM7
up 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 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:TPH1
gene id: 9606:TPH1
uniprot id: P17752
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: Secondary Structure
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: 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: ACT
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine; by PKA
up seq anno comments: Tryptophan 5-hydroxylase 1
up seq anno feature ids: PRO_0000205568
up seq anno feature ids: VSP_000546

9606:FOXG1
gene id: 9606:FOXG1
uniprot id: P55316
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
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: Abolishes interaction with KDM5B.
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Fork-head
up seq anno comments: Forkhead box protein G1
up seq anno comments: Found in a patient with developmental delay with seizures and mild developmental delay; unknown pathological significance.
up seq anno comments: In RTTCV.
up seq anno comments: In RTTCV; the mutant protein extensively, although not fully, localizes in nuclear speckles, while the wild-type is more widely dispersed throughout the nucleus.
up seq anno comments: Pro residues
up seq anno comments: Probable disease-associated variant found in a patient with developmental delay.
up seq anno feature ids: PRO_0000091835
up seq anno feature ids: VAR_063885
up seq anno feature ids: VAR_064395
up seq anno feature ids: VAR_064396
up seq anno feature ids: VAR_078715
up seq anno feature ids: VAR_078716
up seq anno feature ids: VAR_078717
up seq anno feature ids: VAR_078718

9606:CCDC3
gene id: 9606:CCDC3
uniprot id: Q9BQI4
up 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 labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Glycosylation Site
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Coiled-coil domain-containing protein 3
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000020862
up seq anno feature ids: VSP_054551

9606:STX3
gene id: 9606:STX3
uniprot id: Q13277
uniprot id: Q53YE2
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 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: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Found in a patient with congenital cataract and developmental delay; unknown pathological significance.
up seq anno comments: Helical
up seq anno comments: Helical; Anchor for type IV membrane protein
up seq anno comments: In DIAR12; loss of expression.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform B.
up seq anno comments: Syntaxin-3
up seq anno comments: T-SNARE coiled-coil homology
up seq anno comments: t-SNARE coiled-coil homology
up seq anno feature ids: PRO_0000210199
up seq anno feature ids: VAR_028189
up seq anno feature ids: VAR_052246
up seq anno feature ids: VAR_052247
up seq anno feature ids: VAR_086135
up seq anno feature ids: VAR_086136
up seq anno feature ids: VSP_006340
up seq anno feature ids: VSP_043187

9606:ENOPH1
gene id: 9606:ENOPH1
uniprot id: Q9UHY7
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: Site
up seq anno labels: Binding Site
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: Turn
up seq anno comments: Enolase-phosphatase E1
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000254007
up seq anno feature ids: VSP_021160

9606:DUS4L
gene id: 9606:DUS4L
uniprot id: A4D0R5
uniprot id: O95620
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: 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 labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Dus
up seq anno comments: In isoform 2.
up seq anno comments: Proton donor
up seq anno comments: tRNA-dihydrouridine(20a/20b) synthase [NAD(P)+]-like
up seq anno feature ids: PRO_0000247347
up seq anno feature ids: VAR_027094
up seq anno feature ids: VAR_048938
up seq anno feature ids: VSP_019975

9606:BOP1
gene id: 9606:BOP1
uniprot id: Q14137
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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 comments: Acidic residues
up seq anno comments: Basic and acidic residues
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: Polar residues
up seq anno comments: Ribosome biogenesis protein BOP1
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_0000050885
up seq anno feature ids: VSP_056391

9606:HCST
gene id: 9606:HCST
uniprot id: Q9UBK5
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 labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis 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: 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: Helical
up seq anno comments: Hematopoietic cell signal transducer
up seq anno comments: In isoform 2.
up seq anno comments: Phosphotyrosine
up seq anno feature ids: PRO_0000330287
up seq anno feature ids: VSP_033022

9606:KNG1
gene id: 9606:KNG1
uniprot id: P01042
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: Secondary Structure
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: Peptide
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: Turn
up seq anno comments: 4-hydroxyproline; partial
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Bradykinin
up seq anno comments: Cystatin kininogen-type 1
up seq anno comments: Cystatin kininogen-type 2
up seq anno comments: Cystatin kininogen-type 3
up seq anno comments: In HAE6.
up seq anno comments: In HAE6; unknown pathological significance.
up seq anno comments: In T-kinin peptide.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform LMW.
up seq anno comments: Interchain (between heavy and light chains)
up seq anno comments: Kininogen-1
up seq anno comments: Kininogen-1 heavy chain
up seq anno comments: Kininogen-1 light chain
up seq anno comments: Low molecular weight growth-promoting factor
up seq anno comments: Lysyl-bradykinin
up seq anno comments: N-linked (GlcNAc...) (complex) asparagine
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: Phosphoserine; by FAM20C
up seq anno comments: Polar residues
up seq anno comments: Pyrrolidone carboxylic acid; in mature form
up seq anno comments: T-kinin
up seq anno feature ids: PRO_0000006685
up seq anno feature ids: PRO_0000006686
up seq anno feature ids: PRO_0000006687
up seq anno feature ids: PRO_0000006688
up seq anno feature ids: PRO_0000006689
up seq anno feature ids: PRO_0000006690
up seq anno feature ids: PRO_0000372485
up seq anno feature ids: VAR_019277
up seq anno feature ids: VAR_019278
up seq anno feature ids: VAR_019279
up seq anno feature ids: VAR_028937
up seq anno feature ids: VAR_048853
up seq anno feature ids: VAR_048854
up seq anno feature ids: VAR_048855
up seq anno feature ids: VAR_055233
up seq anno feature ids: VAR_085817
up seq anno feature ids: VAR_085818
up seq anno feature ids: VSP_001261
up seq anno feature ids: VSP_001262
up seq anno feature ids: VSP_047307
up seq anno feature ids: VSP_047308

9606:PKN3
gene id: 9606:PKN3
uniprot id: A0A024R8D6
uniprot id: Q6P5Z2
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: 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: 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 comments: AGC-kinase C-terminal
up seq anno comments: Abolishes autophosphorylation and catalytic activity.
up seq anno comments: Abolishes catalytic activity.
up seq anno comments: Abolishes phosphorylation.
up seq anno comments: Basic and acidic residues
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Pro residues
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: REM-1
up seq anno comments: REM-1 1
up seq anno comments: REM-1 2
up seq anno comments: REM-1 3
up seq anno comments: Serine/threonine-protein kinase N3
up seq anno feature ids: PRO_0000055725
up seq anno feature ids: VAR_042346
up seq anno feature ids: VAR_050565

9606:RFT1
gene id: 9606:RFT1
uniprot id: Q96AA3
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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: In CDG1N.
up seq anno comments: Protein RFT1 homolog
up seq anno feature ids: PRO_0000311286
up seq anno feature ids: VAR_037215
up seq anno feature ids: VAR_044334
up seq anno feature ids: VAR_062572
up seq anno feature ids: VAR_062573

9606:COX5A
gene id: 9606:COX5A
uniprot id: P20674
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 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: Cytochrome c oxidase subunit 5A, mitochondrial
up seq anno comments: In MC4DN20; decreased protein abundance in patient fibroblasts; decreased proteins abundance of mitochondrial respiratory chain complex IV in patient fibroblasts; no effect on respiratory chain complex IV assembly in patient fibroblasts; increased protein abundance of S1 complex IV intermediate in patient fibroblasts.
up seq anno comments: Mitochondrion
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000006100
up seq anno feature ids: VAR_078264

9606:RASGRF1
gene id: 9606:RASGRF1
uniprot id: A8K270
uniprot id: Q13972
uniprot id: Q8IUU5
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 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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: DH
up seq anno comments: IQ
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-terminal Ras-GEF
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: Phosphoserine; by PLK2
up seq anno comments: Polar residues
up seq anno comments: Ras-GEF
up seq anno comments: Ras-specific guanine nucleotide-releasing factor 1
up seq anno feature ids: PRO_0000068880
up seq anno feature ids: VSP_012032
up seq anno feature ids: VSP_054072
up seq anno feature ids: VSP_054073

9606:ZNF282
gene id: 9606:ZNF282
uniprot id: A0A090N8Y3
uniprot id: Q86YG2
uniprot id: Q9UDV7
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 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: 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: 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:TTC13
gene id: 9606:TTC13
uniprot id: A0A384NPL4
uniprot id: Q8NBP0
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 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:SFTA2
gene id: 9606:SFTA2
uniprot id: A0A1U9X8K0
uniprot id: Q6UW10
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Surfactant-associated protein 2
up seq anno feature ids: PRO_0000022610
up seq anno feature ids: PRO_5014275542
up seq anno feature ids: VAR_034423

9606:CPSF7
gene id: 9606:CPSF7
uniprot id: B4DGF8
uniprot id: Q8N684
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: Secondary Structure
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: 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: Cleavage and polyadenylation specificity factor subunit 7
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: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: RRM
up seq anno feature ids: PRO_0000081527
up seq anno feature ids: VSP_017194
up seq anno feature ids: VSP_038975

9606:KIF15
gene id: 9606:KIF15
uniprot id: C9JKA9
uniprot id: Q9NS87
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: Secondary Structure
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: 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: HMMR_C
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: Kinesin motor
up seq anno comments: Kinesin-like protein KIF15
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_0000328684
up seq anno feature ids: VAR_042464
up seq anno feature ids: VAR_042465
up seq anno feature ids: VAR_042466
up seq anno feature ids: VAR_042467
up seq anno feature ids: VSP_032752
up seq anno feature ids: VSP_032753
up seq anno feature ids: VSP_032754
up seq anno feature ids: VSP_032755

9606:ARHGEF18
gene id: 9606:ARHGEF18
uniprot id: A0A087WZG4
uniprot id: Q6ZSZ5
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 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: 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; degenerate
up seq anno comments: DH
up seq anno comments: In RP78.
up seq anno comments: In RP78; decreased function in positive regulation of Rho protein signal transduction; loss of function in regulation of actomyosin structure organization.
up seq anno comments: In RP78; no effect on function in positive regulation of Rho protein signal transduction; decreased function in regulation of actomyosin structure organization.
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: 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 18
up seq anno feature ids: PRO_0000341415
up seq anno feature ids: VAR_044066
up seq anno feature ids: VAR_044067
up seq anno feature ids: VAR_063099
up seq anno feature ids: VAR_078919
up seq anno feature ids: VAR_078920
up seq anno feature ids: VAR_078921
up seq anno feature ids: VAR_078922
up seq anno feature ids: VSP_059874
up seq anno feature ids: VSP_059875
up seq anno feature ids: VSP_059876
up seq anno feature ids: VSP_059877

9606:MRPL12
gene id: 9606:MRPL12
uniprot id: P52815
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 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: 39S ribosomal protein L12, mitochondrial
up seq anno comments: In COXPD45; MRPL12 steady state level are reduced in patient fibroblasts; results in defective mt-LSU assembly; reduced mitochondrial translation with a significant decrease of synthesis of COXI, COXII and COXIII subunits.
up seq anno comments: Mitochondrion
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-succinyllysine
up seq anno feature ids: PRO_0000030458
up seq anno feature ids: VAR_052001
up seq anno feature ids: VAR_084463

9606:HBS1L
gene id: 9606:HBS1L
uniprot id: D9YZV0
uniprot id: Q9Y450
up 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: 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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: HBS1-like protein
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: Tr-type G
up seq anno comments: tr-type G
up seq anno feature ids: PRO_0000091491
up seq anno feature ids: VAR_048963
up seq anno feature ids: VSP_013624
up seq anno feature ids: VSP_041068

9606:CCDC63
gene id: 9606:CCDC63
uniprot id: G3V217
uniprot id: Q8NA47
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 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 63
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000288874
up seq anno feature ids: VAR_050758
up seq anno feature ids: VSP_054895

9606:APBB2
gene id: 9606:APBB2
uniprot id: B4DJ88
uniprot id: B4E2F2
uniprot id: G5E9Y1
uniprot id: Q5I0G1
uniprot id: Q92870
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 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: 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: Abolishes interaction with APP and gamma-secretase-dependent processing of the APP membrane-anchored C-terminal fragment C83.
up seq anno comments: Amyloid beta precursor protein binding family B member 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: PID
up seq anno comments: PID 1
up seq anno comments: PID 2
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: WW
up seq anno feature ids: PRO_0000076052
up seq anno feature ids: VAR_069029
up seq anno feature ids: VSP_040354
up seq anno feature ids: VSP_040355
up seq anno feature ids: VSP_044232
up seq anno feature ids: VSP_045042

9606:TMEM207
gene id: 9606:TMEM207
uniprot id: Q6UWW9
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 labels: Chain
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: Loss of WWOX-binding.
up seq anno comments: Transmembrane protein 207
up seq anno feature ids: PRO_0000317525
up seq anno feature ids: VAR_051436

9606:TFDP2
gene id: 9606:TFDP2
uniprot id: Q14188
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: Secondary Structure
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: Initiator Methionine
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 labels: Strand
up seq anno comments: Acidic residues
up seq anno comments: DEF box
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 Beta and isoform Gamma.
up seq anno comments: In isoform Beta, isoform Gamma, isoform Delta and isoform Epsilon.
up seq anno comments: In isoform Gamma and isoform Epsilon.
up seq anno comments: N-acetylthreonine
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno comments: Transcription factor Dp-2
up seq anno feature ids: PRO_0000219477
up seq anno feature ids: VAR_002272
up seq anno feature ids: VAR_020567
up seq anno feature ids: VSP_001352
up seq anno feature ids: VSP_001353
up seq anno feature ids: VSP_001354
up seq anno feature ids: VSP_043140
up seq anno feature ids: VSP_043141
up seq anno feature ids: VSP_045455
up seq anno feature ids: VSP_047415

9606:DTWD1
gene id: 9606:DTWD1
uniprot id: Q8N5C7
up 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 labels: Chain
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: DXTW
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-acetylserine
up seq anno comments: Removed
up seq anno comments: tRNA-uridine aminocarboxypropyltransferase 1
up seq anno feature ids: PRO_0000308212
up seq anno feature ids: VAR_036757
up seq anno feature ids: VAR_036758
up seq anno feature ids: VAR_036759
up seq anno feature ids: VSP_028922
up seq anno feature ids: VSP_028923

9606:CNFN
gene id: 9606:CNFN
uniprot id: Q9BYD5
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno comments: Cornifelin
up seq anno feature ids: PRO_0000261195

9606:USP24
gene id: 9606:USP24
uniprot id: Q9UPU5
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: 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: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
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: Proton acceptor
up seq anno comments: UBA
up seq anno comments: USP
up seq anno comments: Ubiquitin carboxyl-terminal hydrolase 24
up seq anno feature ids: PRO_0000080652
up seq anno feature ids: VAR_047154
up seq anno feature ids: VAR_047155
up seq anno feature ids: VAR_047156
up seq anno feature ids: VAR_047157

9606:ATN1
gene id: 9606:ATN1
uniprot id: P54259
uniprot id: Q86V38
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Abolishes phosphorylation.
up seq anno comments: Asymmetric dimethylarginine
up seq anno comments: Atrophin-1
up seq anno comments: Basic and acidic residues
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In CHEDDA.
up seq anno comments: In CHEDDA; the mutation resulted in a perturbation of the structural and functional integrity of the HX repeat; altered zinc-binding properties of the HX repeat.
up seq anno comments: In CHEDDA; unknown pathological significance.
up seq anno comments: N6-acetyllysine
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 MAPK8
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Prevents cleavage and suppresses apoptosis.
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000064730
up seq anno feature ids: VAR_030937
up seq anno feature ids: VAR_064038
up seq anno feature ids: VAR_083058
up seq anno feature ids: VAR_083059
up seq anno feature ids: VAR_083060
up seq anno feature ids: VAR_083061
up seq anno feature ids: VAR_083062
up seq anno feature ids: VAR_083063
up seq anno feature ids: VAR_083064
up seq anno feature ids: VAR_083065

9606:MYH1
gene id: 9606:MYH1
uniprot id: P12882
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: 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: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Found in a renal cell carcinoma sample; somatic mutation.
up seq anno comments: IQ
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: Myosin N-terminal SH3-like
up seq anno comments: Myosin motor
up seq anno comments: Myosin-1
up seq anno comments: N6,N6,N6-trimethyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Pros-methylhistidine
up seq anno feature ids: PRO_0000123391
up seq anno feature ids: VAR_030193
up seq anno feature ids: VAR_030194
up seq anno feature ids: VAR_030195
up seq anno feature ids: VAR_036003
up seq anno feature ids: VAR_036004
up seq anno feature ids: VAR_036005
up seq anno feature ids: VAR_054159
up seq anno feature ids: VAR_064735

9606:NUP98
gene id: 9606:NUP98
uniprot id: P52948
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: Secondary Structure
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: 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: Basic and acidic residues
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 a breast cancer sample; somatic mutation.
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: Loss of autoprocessing. Loss of nuclear membrane localization.
up seq anno comments: Loss of processing. Loss of nuclear membrane localization.
up seq anno comments: Moderate reduction in autoprocessing.
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: No effect in autoprocessing.
up seq anno comments: No effect on autoprocessing. Severe loss of autoprocessing; when associated with A-879.
up seq anno comments: Nuclear pore complex protein Nup96
up seq anno comments: Nuclear pore complex protein Nup98
up seq anno comments: Nucleophile
up seq anno comments: Peptidase S59
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Slight reduction in autoprocessing.
up seq anno feature ids: PRO_0000019929
up seq anno feature ids: PRO_0000019930
up seq anno feature ids: VAR_035859
up seq anno feature ids: VSP_003619
up seq anno feature ids: VSP_007942
up seq anno feature ids: VSP_007943
up seq anno feature ids: VSP_007944
up seq anno feature ids: VSP_038328

9606:TEK
gene id: 9606:TEK
uniprot id: Q02763
uniprot id: Q59HG2
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: Secondary Structure
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: 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 labels: Turn
up seq anno comments: Abolishes interaction with SHC1.
up seq anno comments: Angiopoietin-1 receptor
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: EGF-like 3
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: Found in a patient with multiple sporadic venous malformations; increased ligand-independent autophosphorylation; the autophosphorylation increases when associated with Phe-897.
up seq anno comments: Found in a patient with multiple sporadic venous malformations; increased ligand-independent autophosphorylation; the hyperphosphorylation increases when associated with Leu-915.
up seq anno comments: Found in a patient with solitary sporadic venous malformations; increased ligand-independent autophosphorylation.
up seq anno comments: Found in patients with solitary and multiple sporadic venous malformations; increased ligand-independent autophosphorylation; novel location at endoplasmic reticulum and Golgi apparatus; partially retained at endoplasmic reticulum and Golgi apparatus.
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 GLC3E; enhanced proteasomal degradation.
up seq anno comments: In GLC3E; formation of protein aggregates.
up seq anno comments: In GLC3E; reduced response to ligand; loss of ligand-induced phosphorylation; no effect on basal membrane location.
up seq anno comments: In GLC3E; unknown pathological significance; 10-fold decrease of Tyr-1102 phosphorylation; no effect on membrane location.
up seq anno comments: In VMCM; also found in a patient with solitary sporadic venous malformations; increased ligand-independent autophosphorylation and kinase activation.
up seq anno comments: In VMCM; increased ligand-independent autophosphorylation and kinase activation.
up seq anno comments: In VMCM; increased ligand-independent autophosphorylation and kinase activation; no effect on location at membrane.
up seq anno comments: In VMCM; strongly increased ligand-independent autophosphorylation and kinase activation.
up seq anno comments: In a renal clear cell carcinoma sample; somatic mutation.
up seq anno comments: In an ovarian serous carcinoma sample; somatic mutation.
up seq anno comments: In breast cancer samples; infiltrating ductal carcinoma; somatic mutation.
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of kinase activity.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphotyrosine; by autocatalysis
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Reduces protein abundance.
up seq anno feature ids: PRO_0000024474
up seq anno feature ids: VAR_006352
up seq anno feature ids: VAR_008716
up seq anno feature ids: VAR_024578
up seq anno feature ids: VAR_035714
up seq anno feature ids: VAR_041855
up seq anno feature ids: VAR_041856
up seq anno feature ids: VAR_041857
up seq anno feature ids: VAR_041858
up seq anno feature ids: VAR_041859
up seq anno feature ids: VAR_041860
up seq anno feature ids: VAR_041861
up seq anno feature ids: VAR_041862

9606:IFNB1
gene id: 9606:IFNB1
uniprot id: A0A7R8GV38
uniprot id: P01574
up 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 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:CYP1A1
gene id: 9606:CYP1A1
uniprot id: P04798
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: Secondary Structure
up seq anno parent labels: 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: 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: 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:PPIAL4A
gene id: 9606:PPIAL4A
uniprot id: Q9Y536
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: PPIase cyclophilin-type
up seq anno comments: Peptidyl-prolyl cis-trans isomerase A-like 4A
up seq anno feature ids: PRO_0000324640

9606:CCDC167
gene id: 9606:CCDC167
uniprot id: Q9P0B6
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: Transmembrane
up seq anno comments: Coiled-coil domain-containing protein 167
up seq anno comments: Helical
up seq anno feature ids: PRO_0000308550

9606:ACO2
gene id: 9606:ACO2
uniprot id: Q99798
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: 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Transit Peptide
up seq anno comments: Aconitate hydratase, mitochondrial
up seq anno comments: In ICRD.
up seq anno comments: In ICRD; functional expression studies in yeast show that the mutant has decreased function under growth conditions requiring the TCA cycle and the glyoxylate shunt.
up seq anno comments: In OPA9.
up seq anno comments: In a breast cancer sample; somatic mutation.
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: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000000541
up seq anno feature ids: VAR_033297
up seq anno feature ids: VAR_036572
up seq anno feature ids: VAR_067543
up seq anno feature ids: VAR_073435
up seq anno feature ids: VAR_073436
up seq anno feature ids: VAR_073437
up seq anno feature ids: VAR_073438

9606:TUBB3
gene id: 9606:TUBB3
uniprot id: Q13509
uniprot id: Q53G92
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: Secondary Structure
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: Helix
up seq anno labels: Modified Residue
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: Strand
up seq anno labels: Turn
up seq anno comments: 5-glutamyl polyglutamate
up seq anno comments: Acidic residues
up seq anno comments: In CDCBM1; can form tubulin heterodimers that are properly incorporated into microtubules; the microtubules are less stable than wild-type.
up seq anno comments: In CDCBM1; does not form tubulin heterodimers.
up seq anno comments: In CDCBM1; does not form tubulin heterodimers; patient fibroblasts show no major alterations in the microtubule network, but the microtubules are less stable than wild-type.
up seq anno comments: In CDCBM1; reduced heterodimers formation.
up seq anno comments: In CFEOM3A; affects heterodimers formation; affects microtubules polymerization and depolymerization rates.
up seq anno comments: In CFEOM3A; affects heterodimers formation; results in increased stability and reduced dynamics of microtubules.
up seq anno comments: In CFEOM3A; severe phenotype with congenital facial weakness, congenital wrist and finger contractures.
up seq anno comments: In CFEOM3A; severe phenotype with congenital facial weakness, congenital wrist and finger contractures; affects microtubules polymerization and depolymerization rates.
up seq anno comments: In CFEOM3A; severe phenotype with congenital facial weakness; lower extremity weakness and sensory loss in the second to third decade of life in one patient; affects microtubules polymerization and depolymerization rates.
up seq anno comments: In CFEOM3A; some patients with lower extremity weakness and sensory loss in the second to third decade of life; also found in patients without CFEOM3A who developed polyneuropathy.
up seq anno comments: In isoform 2.
up seq anno comments: MREI motif
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CDK1
up seq anno comments: Tubulin
up seq anno comments: Tubulin beta-3 chain
up seq anno comments: Tubulin_C
up seq anno feature ids: PRO_0000048250
up seq anno feature ids: VAR_062758
up seq anno feature ids: VAR_062759
up seq anno feature ids: VAR_062760
up seq anno feature ids: VAR_062761
up seq anno feature ids: VAR_062762
up seq anno feature ids: VAR_062763
up seq anno feature ids: VAR_062764
up seq anno feature ids: VAR_062765
up seq anno feature ids: VAR_066206
up seq anno feature ids: VAR_066207
up seq anno feature ids: VAR_066208
up seq anno feature ids: VAR_066209
up seq anno feature ids: VSP_054659

9606:GAR1
gene id: 9606:GAR1
uniprot id: Q9NY12
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: Secondary Structure
up seq anno labels: Chain
up seq anno labels: Crosslink
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: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: H/ACA ribonucleoprotein complex subunit 1
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000208552
up seq anno feature ids: VSP_014594

9606:IPO5
gene id: 9606:IPO5
uniprot id: O00410
uniprot id: Q9BVS9
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: Secondary Structure
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: 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: 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:LGALS9B
gene id: 9606:LGALS9B
uniprot id: Q3B8N2
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: 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 labels: Splice Variant
up seq anno comments: Galectin 1
up seq anno comments: Galectin 2
up seq anno comments: Galectin-9B
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000321949
up seq anno feature ids: VSP_035176

9606:NLK
gene id: 9606:NLK
uniprot id: A0A024QZ12
uniprot id: Q9UBE8
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: 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: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Abrogates kinase activity.
up seq anno comments: Basic residues
up seq anno comments: In a glioblastoma multiforme sample; somatic mutation.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine; by autocatalysis
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Serine/threonine-protein kinase NLK
up seq anno comments: TQE
up seq anno feature ids: PRO_0000186336
up seq anno feature ids: VAR_019549
up seq anno feature ids: VAR_042273

9606:ENPP2
gene id: 9606:ENPP2
uniprot id: E7EUF1
uniprot id: Q13822
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: Secondary Structure
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: 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: 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: Cell attachment site
up seq anno comments: Ectonucleotide pyrophosphatase/phosphodiesterase family member 2
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: 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:SELENBP1
gene id: 9606:SELENBP1
uniprot id: Q13228
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 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 comments: In EHMTO; loss of methanethiol oxidation in patient cells.
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: Methanethiol oxidase
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000174633
up seq anno feature ids: VAR_080207
up seq anno feature ids: VAR_080208
up seq anno feature ids: VAR_080209
up seq anno feature ids: VSP_038440
up seq anno feature ids: VSP_045425
up seq anno feature ids: VSP_055126

9606:PCDHB14
gene id: 9606:PCDHB14
uniprot id: Q9Y5E9
up 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 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:EPS15L1
gene id: 9606:EPS15L1
uniprot id: A0A024R7G6
uniprot id: Q9UBC2
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: 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: 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 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: 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: Basic and acidic residues
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: EH
up seq anno comments: EH 1
up seq anno comments: EH 2
up seq anno comments: EH 3
up seq anno comments: Epidermal growth factor receptor substrate 15-like 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: 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: Pro residues
up seq anno comments: Removed
up seq anno feature ids: PRO_0000146118
up seq anno feature ids: VSP_042200
up seq anno feature ids: VSP_045429
up seq anno feature ids: VSP_046904
up seq anno feature ids: VSP_046905

9606:BPTF
gene id: 9606:BPTF
uniprot id: Q12830
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: Secondary Structure
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: 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 binding to histone H3K4me3.
up seq anno comments: Acidic residues
up seq anno comments: Asymmetric dimethylarginine
up seq anno comments: Basic and acidic residues
up seq anno comments: Bromo
up seq anno comments: DDT
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In NEDDFL.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 4.
up seq anno comments: Induces binding to histone H3K4me2.
up seq anno comments: N6-acetyllysine
up seq anno comments: Nucleosome-remodeling factor subunit BPTF
up seq anno comments: Omega-N-methylarginine
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: Strongly reduces binding to histone H3K4me3.
up seq anno feature ids: PRO_0000087176
up seq anno feature ids: VAR_080531
up seq anno feature ids: VAR_080532
up seq anno feature ids: VAR_080533
up seq anno feature ids: VSP_020402
up seq anno feature ids: VSP_020405

9606:MRAP2
gene id: 9606:MRAP2
uniprot id: Q96G30
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 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: Transmembrane
up seq anno comments: Abolishes N-glycosylation.
up seq anno comments: Found in a patient with obesity; unknown pathological significance.
up seq anno comments: Helical
up seq anno comments: Melanocortin-2 receptor accessory protein 2
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000089522
up seq anno feature ids: VAR_069986
up seq anno feature ids: VAR_069987
up seq anno feature ids: VAR_069988

9606:CRYBG2
gene id: 9606:CRYBG2
uniprot id: Q8N1P7
uniprot id: Q9NWG5
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Sequence Variant
up seq anno comments: Acidic residues
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 2
up seq anno comments: Polar residues
up seq anno comments: Ricin B-type lectin
up seq anno feature ids: PRO_0000285105
up seq anno feature ids: VAR_048835

9606:GFRA2
gene id: 9606:GFRA2
uniprot id: O00451
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: Secondary Structure
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: 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: GDNF family receptor alpha-2
up seq anno comments: GPI-anchor amidated serine
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_0000010785
up seq anno feature ids: PRO_0000010786
up seq anno feature ids: VAR_059976
up seq anno feature ids: VSP_001661
up seq anno feature ids: VSP_046112

9606:CEACAM19
gene id: 9606:CEACAM19
uniprot id: Q7Z692
up 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 labels: Chain
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: Carcinoembryonic antigen-related cell adhesion molecule 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: In isoform 3.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000014576
up seq anno feature ids: VSP_010708
up seq anno feature ids: VSP_010709
up seq anno feature ids: VSP_043228

9606:TRAF5
gene id: 9606:TRAF5
uniprot id: O00463
up 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 labels: Chain
up seq anno labels: Coiled-Coil
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 labels: Zinc Finger
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: MATH
up seq anno comments: RING-type
up seq anno comments: TNF receptor-associated factor 5
up seq anno comments: TRAF-type 1
up seq anno comments: TRAF-type 2
up seq anno feature ids: PRO_0000056405
up seq anno feature ids: VAR_020117
up seq anno feature ids: VAR_052151
up seq anno feature ids: VAR_052152
up seq anno feature ids: VAR_071060
up seq anno feature ids: VSP_055449
up seq anno feature ids: VSP_055450

9606:ZXDC
gene id: 9606:ZXDC
uniprot id: Q2QGD7
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
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: 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: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
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: Zinc finger protein ZXDC
up seq anno feature ids: PRO_0000292803
up seq anno feature ids: VAR_057464
up seq anno feature ids: VSP_026437
up seq anno feature ids: VSP_026438
up seq anno feature ids: VSP_047464

9606:ZNF622
gene id: 9606:ZNF622
uniprot id: Q969S3
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: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Zinc Finger
up seq anno comments: Acidic residues
up seq anno comments: Cytoplasmic 60S subunit biogenesis factor ZNF622
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno comments: U1-type 1
up seq anno comments: U1-type 2
up seq anno feature ids: PRO_0000191815

9606:ARHGEF33
gene id: 9606:ARHGEF33
uniprot id: A8MVX0
up 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 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: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: DH
up seq anno comments: In isoform 2.
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Polar residues
up seq anno comments: Rho guanine nucleotide exchange factor 33
up seq anno feature ids: PRO_0000342343
up seq anno feature ids: VSP_044905

9606:OR4L1
gene id: 9606:OR4L1
uniprot id: Q8NH43
up 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 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 4L1
up seq anno feature ids: PRO_0000150560
up seq anno feature ids: VAR_024094
up seq anno feature ids: VAR_034201
up seq anno feature ids: VAR_034202
up seq anno feature ids: VAR_034203
up seq anno feature ids: VAR_034204
up seq anno feature ids: VAR_034205
up seq anno feature ids: VAR_062036
up seq anno feature ids: VAR_062037

9606:DLL3
gene id: 9606:DLL3
uniprot id: Q9NYJ7
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 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: 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: DSL
up seq anno comments: Delta-like protein 3
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: Extracellular
up seq anno comments: Helical
up seq anno comments: In SCDO1.
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000007509
up seq anno feature ids: VAR_009952
up seq anno feature ids: VAR_016776
up seq anno feature ids: VAR_046782
up seq anno feature ids: VAR_046783
up seq anno feature ids: VAR_046784
up seq anno feature ids: VSP_045249

9606:DHX58
gene id: 9606:DHX58
uniprot id: A0A024R1Y5
uniprot id: Q96C10
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: 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: Motif
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: ATP-dependent RNA helicase DHX58
up seq anno comments: Abolishes RNA binding.
up seq anno comments: DECH box
up seq anno comments: Found in a patient with a neurodevelopmental disorder; unknown pathological significance.
up seq anno comments: Helicase ATP-binding
up seq anno comments: Helicase C-terminal
up seq anno comments: Loss of dsRNA-induced ATPase activity.
up seq anno comments: Loss of dsRNA-induced ATPase activity. Loss of ds-RNA binding. No effect on cytoplasmic pattern recognition receptor signaling pathway in response to virus.
up seq anno comments: Loss of dsRNA-induced ATPase activity. No effect on cytoplasmic pattern recognition receptor signaling pathway in response to virus.
up seq anno comments: Loss of dsRNA-induced ATPase activity. No effect on ds-RNA binding. No effect on cytoplasmic pattern recognition receptor signaling pathway in response to virus.
up seq anno comments: RLR CTR
up seq anno feature ids: PRO_0000102010
up seq anno feature ids: VAR_019394
up seq anno feature ids: VAR_019395
up seq anno feature ids: VAR_049336
up seq anno feature ids: VAR_049337
up seq anno feature ids: VAR_083645

9606:C20orf173
gene id: 9606:C20orf173
uniprot id: Q96LM9
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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 C20orf173
up seq anno feature ids: PRO_0000079483
up seq anno feature ids: VAR_024334
up seq anno feature ids: VSP_040891

9606:NRL
gene id: 9606:NRL
uniprot id: P54845
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
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 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: 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:HROB
gene id: 9606:HROB
uniprot id: Q8N3J3
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Asymmetric dimethylarginine
up seq anno comments: Homologous recombination OB-fold 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: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000288092
up seq anno feature ids: VAR_032393
up seq anno feature ids: VSP_025651
up seq anno feature ids: VSP_025652
up seq anno feature ids: VSP_025653
up seq anno feature ids: VSP_025654
up seq anno feature ids: VSP_025655
up seq anno feature ids: VSP_047077

9606:CFHR3
gene id: 9606:CFHR3
uniprot id: Q02985
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 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: Complement factor H-related protein 3
up seq anno comments: In isoform 2.
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_0000005898
up seq anno feature ids: VAR_048817
up seq anno feature ids: VSP_043041

9606:HOXB8
gene id: 9606:HOXB8
uniprot id: P17481
uniprot id: Q8N8T3
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 labels: Motif
up seq anno comments: Antp-type hexapeptide
up seq anno comments: Homeobox
up seq anno comments: Homeobox protein Hox-B8
up seq anno feature ids: PRO_0000200148

9606:AKT2
gene id: 9606:AKT2
uniprot id: B4DG79
uniprot id: P31751
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: Secondary Structure
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: 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: Turn
up seq anno comments: AGC-kinase C-terminal
up seq anno comments: Constitutively active; when associated with D-474.
up seq anno comments: Constitutively active; when associated with E-309.
up seq anno comments: Impairs interaction with TTC3; when associated with A-309.
up seq anno comments: Impairs interaction with TTC3; when associated with A-474.
up seq anno comments: In HIHGHH; exhibits plasma membrane localization in serum-starved cells and produced inappropriate tonic nuclear exclusion of FOXO1 in preadipocytes.
up seq anno comments: In NIDDM; associated with typical metabolic dyslipidemia with elevated fastin triglyceride, high VLDL triglyceride/cholesterol ratios, low HDL cholesterol levels and high small dense LDL levels; de novo lipogenesis and liver fat are also significantly elevated in this subject.
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylmethionine
up seq anno comments: O-linked (GlcNAc) serine
up seq anno comments: O-linked (GlcNAc) threonine
up seq anno comments: PH
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by PDPK1
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: RAC-beta serine/threonine-protein kinase
up seq anno feature ids: PRO_0000085608
up seq anno feature ids: VAR_040356
up seq anno feature ids: VAR_040357
up seq anno feature ids: VAR_067309
up seq anno feature ids: VAR_067310
up seq anno feature ids: VSP_056930

9606:ABRA
gene id: 9606:ABRA
uniprot id: Q8N0Z2
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: Modified Residue
up seq anno comments: Actin-binding Rho-activating protein
up seq anno comments: Basic and acidic residues
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000247739

9606:QRICH1
gene id: 9606:QRICH1
uniprot id: A1L3Z9
uniprot id: Q2TAL8
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 labels: Chain
up seq anno labels: Crosslink
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 comments: CARD
up seq anno comments: DUF3504
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In VERBRAS; decreased QRICH1 protein expression; decreased growth plate chondrocyte hypertrophic differentiation; unknown pathological significance.
up seq anno comments: In VERBRAS; unknown pathological significance.
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno comments: Transcriptional regulator QRICH1
up seq anno feature ids: PRO_0000269853
up seq anno feature ids: VAR_080962
up seq anno feature ids: VAR_084455
up seq anno feature ids: VAR_084456
up seq anno feature ids: VAR_084457

9606:TM2D1
gene id: 9606:TM2D1
uniprot id: Q9BX74
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: 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: TM2 domain-containing protein 1
up seq anno feature ids: PRO_5000060231

9606:SHCBP1L
gene id: 9606:SHCBP1L
uniprot id: Q9BZQ2
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 labels: Chain
up seq anno labels: Coiled-Coil
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 comments: In isoform 2.
up seq anno comments: In isoform 4.
up seq anno comments: N6-acetyllysine
up seq anno comments: PbH1 1
up seq anno comments: PbH1 2
up seq anno comments: PbH1 3
up seq anno comments: PbH1 4
up seq anno comments: Phosphoserine
up seq anno comments: Testicular spindle-associated protein SHCBP1L
up seq anno feature ids: PRO_0000284838
up seq anno feature ids: VAR_031836
up seq anno feature ids: VSP_024673
up seq anno feature ids: VSP_024676
up seq anno feature ids: VSP_024677
up seq anno feature ids: VSP_024678

9606:TREM1
gene id: 9606:TREM1
uniprot id: K7EKM5
uniprot id: Q38L15
uniprot id: Q9NP99
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: Secondary Structure
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: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: IG
up seq anno comments: Ig-like V-type
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: N-linked (GlcNAc...) asparagine
up seq anno comments: Triggering receptor expressed on myeloid cells 1
up seq anno feature ids: PRO_0000014986
up seq anno feature ids: PRO_5014309051
up seq anno feature ids: PRO_5014580460
up seq anno feature ids: VAR_019333
up seq anno feature ids: VAR_033624
up seq anno feature ids: VAR_035525
up seq anno feature ids: VAR_049949
up seq anno feature ids: VSP_010790
up seq anno feature ids: VSP_010791
up seq anno feature ids: VSP_053939

9606:TXNDC16
gene id: 9606:TXNDC16
uniprot id: B7ZME4
uniprot id: Q9P2K2
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Helical
up seq anno comments: Mediates endoplasmic reticulum retention
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Thioredoxin
up seq anno comments: Thioredoxin domain-containing protein 16
up seq anno feature ids: PRO_0000257789
up seq anno feature ids: VAR_028919
up seq anno feature ids: VAR_061899
up seq anno feature ids: VAR_061900

9606:LSM4
gene id: 9606:LSM4
uniprot id: Q9Y4Z0
uniprot id: U3KQK1
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: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: N-acetylmethionine
up seq anno comments: Sm
up seq anno comments: U6 snRNA-associated Sm-like protein LSm4
up seq anno feature ids: PRO_0000125564

9606:APLF
gene id: 9606:APLF
uniprot id: Q8IW19
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: Secondary Structure
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: 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: 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: 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: 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:PLCB1
gene id: 9606:PLCB1
uniprot id: Q9NQ66
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: 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: 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 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: 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:SLC4A3
gene id: 9606:SLC4A3
uniprot id: P48751
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 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: 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: Acidic residues
up seq anno comments: Anion exchange protein 3
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Helical
up seq anno comments: In isoform 3.
up seq anno comments: In isoform CAE3.
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: S-palmitoyl cysteine
up seq anno feature ids: PRO_0000079219
up seq anno feature ids: VAR_055536
up seq anno feature ids: VAR_059081
up seq anno feature ids: VAR_059082
up seq anno feature ids: VSP_000462
up seq anno feature ids: VSP_000463
up seq anno feature ids: VSP_038184

9606:LAG3
gene id: 9606:LAG3
uniprot id: P18627
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 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: 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: Abolishes binding to MHC class II (MHC-II) without affecting interaction with FGL1.
up seq anno comments: Acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Does not affect binding to MHC class II (MHC-II).
up seq anno comments: Does not significantly affect binding to MHC class II (MHC-II).
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 V-type
up seq anno comments: In isoform 2.
up seq anno comments: Increased binding to MHC class II (MHC-II).
up seq anno comments: KIEELE motif
up seq anno comments: Lymphocyte activation gene 3 protein
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Pro residues
up seq anno comments: Reduced binding to MHC class II (MHC-II).
up seq anno comments: Secreted lymphocyte activation gene 3 protein
up seq anno comments: Slightly affects binding to MHC class II (MHC-II).
up seq anno feature ids: PRO_0000014631
up seq anno feature ids: PRO_0000446642
up seq anno feature ids: VAR_058295
up seq anno feature ids: VSP_056311
up seq anno feature ids: VSP_056312

9606:RIBC2
gene id: 9606:RIBC2
uniprot id: Q9H4K1
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Sequence Variant
up seq anno comments: RIB43A-like with coiled-coils protein 2
up seq anno feature ids: PRO_0000254098
up seq anno feature ids: VAR_028812
up seq anno feature ids: VAR_028813
up seq anno feature ids: VAR_028814

9606:EIF3H
gene id: 9606:EIF3H
uniprot id: O15372
uniprot id: Q6IB98
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 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: Mass
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: Eukaryotic translation initiation factor 3 subunit H
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: MPN
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000213961

9606:PIGM
gene id: 9606:PIGM
uniprot id: Q9H3S5
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 labels: Chain
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: Abolishes enzyme activity.
up seq anno comments: Almost abolishes enzyme activity.
up seq anno comments: Cytoplasmic
up seq anno comments: GPI mannosyltransferase 1
up seq anno comments: Helical
up seq anno comments: Lumenal
up seq anno feature ids: PRO_0000246213
up seq anno feature ids: VAR_027026

9606:KCNQ4
gene id: 9606:KCNQ4
uniprot id: B3KQH8
uniprot id: P56696
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 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: 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: 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: KCNQ_channel
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 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:NFKBIL1
gene id: 9606:NFKBIL1
uniprot id: A0A0A0MRT5
uniprot id: A8K778
uniprot id: Q5STV6
uniprot id: Q9UBC1
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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 comments: ANK 1
up seq anno comments: ANK 2
up seq anno comments: Basic and acidic residues
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: NF-kappa-B inhibitor-like protein 1
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000067009
up seq anno feature ids: VAR_017798
up seq anno feature ids: VSP_041075
up seq anno feature ids: VSP_046261

9606:RAB41
gene id: 9606:RAB41
uniprot id: Q5JT25
up 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: 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: Splice Variant
up seq anno comments: Effector region
up seq anno comments: In isoform 2.
up seq anno comments: Ras-related protein Rab-41
up seq anno comments: S-geranylgeranyl cysteine
up seq anno feature ids: PRO_0000244618
up seq anno feature ids: VSP_037051

9606:PORCN
gene id: 9606:PORCN
uniprot id: Q9H237
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: Site
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Lipid Binding
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: Drastic loss of palmitoylation.
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In FODH.
up seq anno comments: In a patient with focal dermal hypoplasia also carrying a frameshift mutation; uncertain 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 5.
up seq anno comments: Loss of function.
up seq anno comments: Protein-serine O-palmitoleoyltransferase porcupine
up seq anno comments: S-palmitoyl cysteine
up seq anno feature ids: PRO_0000213137
up seq anno feature ids: VAR_035089
up seq anno feature ids: VAR_035090
up seq anno feature ids: VAR_058899
up seq anno feature ids: VAR_058900
up seq anno feature ids: VAR_058901
up seq anno feature ids: VAR_058902
up seq anno feature ids: VAR_058903
up seq anno feature ids: VAR_058904
up seq anno feature ids: VAR_058905
up seq anno feature ids: VAR_058906
up seq anno feature ids: VAR_065189
up seq anno feature ids: VAR_065190
up seq anno feature ids: VAR_065191
up seq anno feature ids: VAR_065192
up seq anno feature ids: VAR_065193
up seq anno feature ids: VAR_066061
up seq anno feature ids: VSP_015886
up seq anno feature ids: VSP_015887
up seq anno feature ids: VSP_015888
up seq anno feature ids: VSP_055419

9606:CTNNA2
gene id: 9606:CTNNA2
uniprot id: F6KRI5
uniprot id: P26232
uniprot id: Q49AD3
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: Secondary Structure
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: 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: 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:FADS6
gene id: 9606:FADS6
uniprot id: A0A087WYB9
uniprot id: Q8N9I5
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Motif
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: 1
up seq anno comments: 2
up seq anno comments: 3
up seq anno comments: FA_desaturase
up seq anno comments: Fatty acid desaturase 6
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 isoform 2.
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000341546
up seq anno feature ids: VSP_034320

9606:SEBOX
gene id: 9606:SEBOX
uniprot id: Q9HB31
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Sequence Variant
up seq anno comments: Homeobox
up seq anno comments: Homeobox protein SEBOX
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000311336
up seq anno feature ids: VAR_037228

9606:CDC42EP2
gene id: 9606:CDC42EP2
uniprot id: O14613
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: CRIB
up seq anno comments: Cdc42 effector protein 2
up seq anno comments: N-acetylserine
up seq anno comments: No binding with CDC42; no induced pseudopodia formation.
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 feature ids: PRO_0000212648
up seq anno feature ids: VAR_023001
up seq anno feature ids: VAR_023002

9606:CCDC137
gene id: 9606:CCDC137
uniprot id: Q6PK04
up 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 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: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Coiled-coil domain-containing protein 137
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000288452
up seq anno feature ids: VAR_050739
up seq anno feature ids: VAR_050740
up seq anno feature ids: VAR_050741
up seq anno feature ids: VAR_061582

9606:DENND1B
gene id: 9606:DENND1B
uniprot id: A0A024R987
uniprot id: Q6P3S1
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: Secondary Structure
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: 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: Almost completely abolishes AP2B1-binding.
up seq anno comments: Causes only a slight reduction in AP2B1-binding.
up seq anno comments: Clathrin box
up seq anno comments: DENN domain-containing protein 1B
up seq anno comments: FXDXF motif
up seq anno comments: Greatly reduce AP2B1-binding.
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, isoform 2 and isoform 1.
up seq anno comments: In isoform 4.
up seq anno comments: No effect.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar 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_0000304674
up seq anno feature ids: VAR_035055
up seq anno feature ids: VSP_028082
up seq anno feature ids: VSP_028083
up seq anno feature ids: VSP_028084
up seq anno feature ids: VSP_028085
up seq anno feature ids: VSP_034515

9606:KRTAP4-5
gene id: 9606:KRTAP4-5
uniprot id: Q9BYR2
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
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: 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: 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 4-5
up seq anno feature ids: PRO_0000185173
up seq anno feature ids: VAR_057648
up seq anno feature ids: VAR_063826
up seq anno feature ids: VAR_064560
up seq anno feature ids: VAR_064561
up seq anno feature ids: VAR_064562

9606:LPO
gene id: 9606:LPO
uniprot id: P22079
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: 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: 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: Splice Variant
up seq anno comments: 3'-nitrotyrosine
up seq anno comments: In isoform 2.
up seq anno comments: Lactoperoxidase
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Proton acceptor
up seq anno comments: axial binding residue
up seq anno comments: covalent
up seq anno feature ids: PRO_0000023649
up seq anno feature ids: PRO_0000023650
up seq anno feature ids: VAR_018809
up seq anno feature ids: VAR_018810
up seq anno feature ids: VAR_018811
up seq anno feature ids: VAR_018812
up seq anno feature ids: VAR_018813
up seq anno feature ids: VAR_018814
up seq anno feature ids: VAR_018815
up seq anno feature ids: VSP_044473

9606:FHAD1
gene id: 9606:FHAD1
uniprot id: B1AJZ9
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 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: 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: FHA
up seq anno comments: Forkhead-associated domain-containing protein 1
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_0000349365
up seq anno feature ids: VAR_046372
up seq anno feature ids: VSP_035366
up seq anno feature ids: VSP_035369

9606:STK16
gene id: 9606:STK16
uniprot id: B4DPS1
uniprot id: B8ZZI5
uniprot id: O75716
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: Secondary Structure
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: 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Loss of myristoylation.
up seq anno comments: Loss of palmitoylation.
up seq anno comments: N-myristoyl glycine
up seq anno comments: Phosphoserine; by autocatalysis
up seq anno comments: Phosphothreonine; by autocatalysis
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: Serine/threonine-protein kinase 16
up seq anno feature ids: PRO_0000086701
up seq anno feature ids: VAR_041140
up seq anno feature ids: VAR_041141
up seq anno feature ids: VAR_041142
up seq anno feature ids: VAR_041143
up seq anno feature ids: VAR_041144

9606:TCP10L
gene id: 9606:TCP10L
uniprot id: Q8TDR4
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 labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Disrupts self-association.
up seq anno comments: Greatly decreases in vitro transcription inhibition activity.
up seq anno comments: Polar residues
up seq anno comments: T-complex protein 10A homolog 1
up seq anno feature ids: PRO_0000072462
up seq anno feature ids: VAR_016099
up seq anno feature ids: VAR_049089

9606:OR1D2
gene id: 9606:OR1D2
uniprot id: A0A126GVV4
uniprot id: P34982
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 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: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Abolishes nuclear translocation of ARRB2.
up seq anno comments: Abolishes nuclear translocation of ARRB2; when associated with A-230 and A-232.
up seq anno comments: Abolishes nuclear translocation of ARRB2; when associated with A-230 and A-239.
up seq anno comments: Abolishes nuclear translocation of ARRB2; when associated with A-232 and A-239.
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G_PROTEIN_RECEP_F1_2
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 1D2
up seq anno feature ids: PRO_0000150418
up seq anno feature ids: VAR_019630
up seq anno feature ids: VAR_057534
up seq anno feature ids: VAR_057535
up seq anno feature ids: VAR_062008

9606:TBCB
gene id: 9606:TBCB
uniprot id: Q99426
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 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 comments: CAP-Gly
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: Phosphoserine; by PAK1
up seq anno comments: Phosphotyrosine
up seq anno comments: Reduced phosphorylation by PAK1. Reduced microtubule polymerization and loss of phosphorylation by PAK1; when associated with A-128.
up seq anno comments: Reduced phosphorylation by PAK1. Reduced microtubule polymerization and loss of phosphorylation by PAK1; when associated with A-65.
up seq anno comments: Tubulin-folding cofactor B
up seq anno feature ids: PRO_0000083534
up seq anno feature ids: VSP_055521

9606:INHBC
gene id: 9606:INHBC
uniprot id: P55103
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Inhibin beta C chain
up seq anno comments: Interchain
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000033730
up seq anno feature ids: PRO_0000033731
up seq anno feature ids: VAR_024230

9606:CT45A7
gene id: 9606:CT45A7
uniprot id: P0DMU7
uniprot id: P0DMU8
uniprot id: P0DMV0
up seq anno parent labels: Experimental Information
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: Sequence Conflict
up seq anno comments: Cancer/testis antigen family 45 member A5
up seq anno comments: Cancer/testis antigen family 45 member A6
up seq anno comments: Cancer/testis antigen family 45 member A7
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000308950
up seq anno feature ids: PRO_0000433029
up seq anno feature ids: PRO_0000433117

9606:TMEM199
gene id: 9606:TMEM199
uniprot id: Q8N511
up 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 labels: Chain
up seq anno labels: Initiator Methionine
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 CDG2P.
up seq anno comments: N-acetylalanine
up seq anno comments: Removed
up seq anno comments: Transmembrane protein 199
up seq anno feature ids: PRO_0000079298
up seq anno feature ids: VAR_033749
up seq anno feature ids: VAR_033750
up seq anno feature ids: VAR_075770
up seq anno feature ids: VAR_075771
up seq anno feature ids: VAR_075772

9606:USP21
gene id: 9606:USP21
uniprot id: Q9UK80
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: 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: 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: Abolishes ubiquitin thioesterase activity.
up seq anno comments: Basic and acidic residues
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Nuclear export signal
up seq anno comments: Nucleophile
up seq anno comments: Proton acceptor
up seq anno comments: USP
up seq anno comments: Ubiquitin carboxyl-terminal hydrolase 21
up seq anno feature ids: PRO_0000080648
up seq anno feature ids: VAR_051531
up seq anno feature ids: VAR_051532
up seq anno feature ids: VAR_051533
up seq anno feature ids: VSP_036717
up seq anno feature ids: VSP_036718
up seq anno feature ids: VSP_036719

9606:PIP4K2A
gene id: 9606:PIP4K2A
uniprot id: P48426
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: Secondary Structure
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: 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 catalytic activity; when associated with F-138.
up seq anno comments: Abolishes catalytic activity; when associated with L-131.
up seq anno comments: Acidic residues
up seq anno comments: In isoform 2.
up seq anno comments: Loss of kinase activity. Increases accumulation of lysosomal cholesterol.
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: No effect on kinase activity; increased accumulation of lysosomal cholesterol.
up seq anno comments: PIPK
up seq anno comments: Phosphatidylinositol 5-phosphate 4-kinase type-2 alpha
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000185465
up seq anno feature ids: VAR_024565
up seq anno feature ids: VAR_059764
up seq anno feature ids: VSP_056458

9606:TSG101
gene id: 9606:TSG101
uniprot id: Q99816
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: 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: Initiator Methionine
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: 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: In isoform 2.
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:ATP2A3
gene id: 9606:ATP2A3
uniprot id: A8K9K1
uniprot id: Q93084
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: 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: 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: Cation_ATPase_N
up seq anno comments: Cytoplasmic
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=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 breast cancer sample; somatic mutation.
up seq anno comments: In isoform SERCA3B.
up seq anno comments: In isoform SERCA3C.
up seq anno comments: In isoform SERCA3D.
up seq anno comments: In isoform SERCA3E.
up seq anno comments: In isoform SERCA3F.
up seq anno comments: In isoform SERCA3G.
up seq anno comments: Lumenal
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Sarcoplasmic/endoplasmic reticulum calcium ATPase 3
up seq anno feature ids: PRO_0000046202
up seq anno feature ids: VAR_036498
up seq anno feature ids: VAR_048372
up seq anno feature ids: VSP_060844
up seq anno feature ids: VSP_060845
up seq anno feature ids: VSP_060846
up seq anno feature ids: VSP_060847
up seq anno feature ids: VSP_060848
up seq anno feature ids: VSP_060849

9606:GOSR2
gene id: 9606:GOSR2
uniprot id: A0A1W2PQE0
uniprot id: A0A1W2PR02
uniprot id: A0A1W2PRL0
uniprot id: O14653
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: Secondary Structure
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: 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: 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; 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 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: VSP_001829
up seq anno feature ids: VSP_043200

9606:BTNL8
gene id: 9606:BTNL8
uniprot id: Q6UX41
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 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: 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: B30.2/SPRY
up seq anno comments: Butyrophilin-like protein 8
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Ig-like V-type 1
up seq anno comments: Ig-like V-type 2
up seq anno comments: In isoform 2 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: 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: Polar residues
up seq anno feature ids: PRO_0000014541
up seq anno feature ids: VAR_049839
up seq anno feature ids: VAR_049840
up seq anno feature ids: VAR_069135
up seq anno feature ids: VAR_069136
up seq anno feature ids: VAR_069137
up seq anno feature ids: VSP_012718
up seq anno feature ids: VSP_012719
up seq anno feature ids: VSP_045471
up seq anno feature ids: VSP_045472
up seq anno feature ids: VSP_045781
up seq anno feature ids: VSP_046067
up seq anno feature ids: VSP_046068
up seq anno feature ids: VSP_046069

9606:LPAR1
gene id: 9606:LPAR1
uniprot id: Q5VZX0
uniprot id: Q92633
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: Secondary Structure
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: 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: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G_PROTEIN_RECEP_F1_2
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 localization at the cell membrane.
up seq anno comments: In isoform 2.
up seq anno comments: Lysophosphatidic acid receptor 1
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000069417
up seq anno feature ids: VAR_049414
up seq anno feature ids: VSP_057046

9606:EYA1
gene id: 9606:EYA1
uniprot id: A0A024R813
uniprot id: A0A2R8Y6K4
uniprot id: A6NCB9
uniprot id: B3KXR1
uniprot id: F8WB53
uniprot id: Q0P517
uniprot id: Q99502
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: 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: Mutagenesis Site
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: Eyes absent homolog 1
up seq anno comments: Found in a patient with congenital cataract.
up seq anno comments: In ASA.
up seq anno comments: In ASA; with cataract.
up seq anno comments: In BOR1.
up seq anno comments: In BOR1; with cataract.
up seq anno comments: In BOS1.
up seq anno comments: In isoform EYA1B.
up seq anno comments: In isoform EYA1D.
up seq anno comments: Loss of tyrosine phosphatase activity toward H2AX.
up seq anno comments: Nucleophile
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Proton donor
up seq anno feature ids: PRO_0000218643
up seq anno feature ids: VAR_005203
up seq anno feature ids: VAR_005204
up seq anno feature ids: VAR_016864
up seq anno feature ids: VAR_016865
up seq anno feature ids: VAR_016866
up seq anno feature ids: VAR_016867
up seq anno feature ids: VAR_016868
up seq anno feature ids: VAR_016869
up seq anno feature ids: VAR_024439
up seq anno feature ids: VAR_044452
up seq anno feature ids: VAR_064942
up seq anno feature ids: VAR_064943
up seq anno feature ids: VAR_064944
up seq anno feature ids: VAR_064945
up seq anno feature ids: VAR_064946
up seq anno feature ids: VAR_064947
up seq anno feature ids: VAR_070033
up seq anno feature ids: VSP_001486
up seq anno feature ids: VSP_045793
up seq anno feature ids: VSP_045794

9606:RPL27
gene id: 9606:RPL27
uniprot id: A0A024R1V4
uniprot id: P61353
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: Domain Extent
up seq anno labels: Modified Residue
up seq anno comments: 60S ribosomal protein L27
up seq anno comments: KOW
up seq anno comments: N6-acetyllysine
up seq anno feature ids: PRO_0000126077

9606:SLITRK3
gene id: 9606:SLITRK3
uniprot id: O94933
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 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: 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: 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 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 1
up seq anno comments: LRRCT 2
up seq anno comments: LRRNT
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Pro residues
up seq anno comments: SLIT and NTRK-like protein 3
up seq anno feature ids: PRO_0000032677
up seq anno feature ids: VAR_027757

9606:SLC16A6
gene id: 9606:SLC16A6
uniprot id: A0A024R8J3
uniprot id: O15403
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 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: 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: MFS
up seq anno comments: Monocarboxylate transporter 7
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000211400
up seq anno feature ids: VAR_053656
up seq anno feature ids: VAR_053657
up seq anno feature ids: VAR_053658
up seq anno feature ids: VAR_053659

9606:UBE2Q1
gene id: 9606:UBE2Q1
uniprot id: Q7Z7E8
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: Secondary Structure
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: 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: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Glycyl thioester intermediate
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylmethionine
up seq anno comments: Polar residues
up seq anno comments: UBC core
up seq anno comments: Ubiquitin-conjugating enzyme E2 Q1
up seq anno feature ids: PRO_0000223876
up seq anno feature ids: VSP_017296

9606:ZNF143
gene id: 9606:ZNF143
uniprot id: P52747
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 labels: Chain
up seq anno labels: Crosslink
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: 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: 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-acetylmethionine
up seq anno comments: Phosphothreonine
up seq anno comments: Zinc finger protein 143
up seq anno feature ids: PRO_0000047426
up seq anno feature ids: VAR_027254
up seq anno feature ids: VAR_061937
up seq anno feature ids: VSP_036978
up seq anno feature ids: VSP_055109

9606:SLC46A3
gene id: 9606:SLC46A3
uniprot id: A0A024RDN9
uniprot id: Q7Z3Q1
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 labels: Chain
up seq anno labels: Glycosylation Site
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: 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: Solute carrier family 46 member 3
up seq anno feature ids: PRO_0000307253
up seq anno feature ids: VSP_028648
up seq anno feature ids: VSP_028649

9606:STYXL1
gene id: 9606:STYXL1
uniprot id: A0A024R4L1
uniprot id: Q7Z3H6
uniprot id: Q9Y6J8
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 labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Mutagenesis Site
up seq anno labels: Splice Variant
up seq anno comments: Confers phosphatase activity. Dephosphorylates G3BP1 at 'Ser-149'. Loss of interaction with G3BP1. Reduces arsenite-induced stress granule formation.
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: Rhodanese
up seq anno comments: Serine/threonine/tyrosine-interacting-like protein 1
up seq anno comments: Tyrosine-protein phosphatase
up seq anno feature ids: PRO_0000094837
up seq anno feature ids: VSP_005175
up seq anno feature ids: VSP_005176
up seq anno feature ids: VSP_005177
up seq anno feature ids: VSP_005178
up seq anno feature ids: VSP_005179
up seq anno feature ids: VSP_005180

9606:DOCK10
gene id: 9606:DOCK10
uniprot id: Q96BY6
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: Secondary Structure
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: C2 DOCK-type
up seq anno comments: DOCKER
up seq anno comments: Dedicator of cytokinesis protein 10
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N6-acetyllysine
up seq anno comments: PH
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000190002
up seq anno feature ids: VSP_007716
up seq anno feature ids: VSP_007717
up seq anno feature ids: VSP_047731

9606:DEFA1B
gene id: 9606:DEFA1B
uniprot id: P59665
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: Secondary Structure
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:LCE1A
gene id: 9606:LCE1A
uniprot id: Q5T7P2
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 comments: Late cornified envelope protein 1A
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000235324

9606:GANC
gene id: 9606:GANC
uniprot id: E7EWB6
uniprot id: H3BN99
uniprot id: Q8TET4
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: 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Gal_mutarotas_2
up seq anno comments: Neutral alpha-glucosidase C
up seq anno comments: Nucleophile
up seq anno comments: Proton donor
up seq anno feature ids: PRO_0000185364
up seq anno feature ids: VAR_018984
up seq anno feature ids: VAR_018985
up seq anno feature ids: VAR_018986
up seq anno feature ids: VAR_018987
up seq anno feature ids: VAR_018988
up seq anno feature ids: VAR_018989
up seq anno feature ids: VAR_056237

9606:PCBP2
gene id: 9606:PCBP2
uniprot id: A0A384N6B9
uniprot id: Q15366
up 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 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: Splice Variant
up seq anno labels: Strand
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: KH
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:CHGA
gene id: 9606:CHGA
uniprot id: G5E968
uniprot id: P10645
uniprot id: Q86T07
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: Secondary Structure
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: Non-terminal Residue
up seq anno labels: Peptide
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: AL-11
up seq anno comments: Acidic residues
up seq anno comments: Arginine amide
up seq anno comments: Basic and acidic residues
up seq anno comments: Catestatin
up seq anno comments: Chromogranin-A
up seq anno comments: EA-92
up seq anno comments: ER-37
up seq anno comments: ES-43
up seq anno comments: GE-25
up seq anno comments: GR-44
up seq anno comments: GV-19
up seq anno comments: Glycine amide
up seq anno comments: Increases activity 2.3 fold; decrease in plasmin-mediated proteolytic processing; decrease in ability to inhibit nicotine-evoked catecholamine secretion in vitro.
up seq anno comments: LF-19
up seq anno comments: May be associated with a reduced risk for hypertension especially in men; reduces activity 4.7 fold; no effect on plasmin-mediated proteolytic processing; increase in ability to inhibit nicotine-evoked catecholamine secretion in vitro; displays alterations in baroreceptor function.
up seq anno comments: Methionine sulfoxide
up seq anno comments: No effect on plasmin-mediated proteolytic processing; decrease in ability to inhibit nicotine-evoked catecholamine secretion in vitro.
up seq anno comments: O-linked (GalNAc...) threonine
up seq anno comments: Pancreastatin
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: SS-18
up seq anno comments: Serpinin
up seq anno comments: Serpinin-RRG
up seq anno comments: Vasostatin-1
up seq anno comments: Vasostatin-2
up seq anno comments: WA-8
up seq anno comments: WE-14
up seq anno comments: p-Glu serpinin precursor
up seq anno feature ids: CAR_000116
up seq anno feature ids: CAR_000117
up seq anno feature ids: CAR_000118
up seq anno feature ids: PRO_0000005408
up seq anno feature ids: PRO_0000005409
up seq anno feature ids: PRO_0000005410
up seq anno feature ids: PRO_0000005411
up seq anno feature ids: PRO_0000005412
up seq anno feature ids: PRO_0000005413
up seq anno feature ids: PRO_0000005414
up seq anno feature ids: PRO_0000005415
up seq anno feature ids: PRO_0000005416
up seq anno feature ids: PRO_0000005417
up seq anno feature ids: PRO_0000005418
up seq anno feature ids: PRO_0000005419
up seq anno feature ids: PRO_0000005420
up seq anno feature ids: PRO_0000005421
up seq anno feature ids: PRO_0000432682
up seq anno feature ids: PRO_0000432683
up seq anno feature ids: PRO_0000432684
up seq anno feature ids: PRO_0000432685
up seq anno feature ids: PRO_0000432686
up seq anno feature ids: PRO_5014092027
up seq anno feature ids: VAR_025636
up seq anno feature ids: VAR_025637
up seq anno feature ids: VAR_025638
up seq anno feature ids: VAR_025639

9606:PPIA
gene id: 9606:PPIA
uniprot id: P62937
uniprot id: V9HWF5
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: Secondary Structure
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: 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: 200-fold decrease of sensitivity to CsA. Reduced ability to stimulate MAPK/ERK phosphorylation.
up seq anno comments: 75-fold decrease of sensitivity to CsA.
up seq anno comments: Acetylation-mimetic mutant; no effect on its interaction with TARDBP.
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 isoform 2.
up seq anno comments: Loss of ability to stimulate MAPK/ERK phosphorylation.
up seq anno comments: Loss of acetylation and interaction with TARDBP.
up seq anno comments: Loss of peptidyl-prolyl cis-trans isomerase activity and interaction with HCV NS5A. Loss of ability to stimulate MAPK/ERK phosphorylation.
up seq anno comments: Loss of peptidyl-prolyl cis-trans isomerase activity.
up seq anno comments: Loss of peptidyl-prolyl cis-trans isomerase activity. No loss of its interaction with BSG/CD147 or its ability to induce leukocyte chemotaxis. No effect on its interaction with MAP3K5/ASK1. Loss of its ability to negatively regulate oxidative stress-induced apoptosis mediated by MAP3K5/ASK1. Reduced interaction with TARDBP. No loss of interaction with influenza A virus matrix protein 1 or its ability to inhibit viral replication.
up seq anno comments: N-acetylmethionine
up seq anno comments: N-acetylvaline; partial; in Peptidyl-prolyl cis-trans isomerase A, N-terminally processed
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: No effect on peptidyl-prolyl cis-trans isomerase activity.
up seq anno comments: No effect on peptidyl-prolyl cis-trans isomerase activity. Reduced interaction with BSG/CD147 and ability to induce leukocyte chemotaxis.
up seq anno comments: PPIase cyclophilin-type
up seq anno comments: Peptidyl-prolyl cis-trans isomerase A
up seq anno comments: Peptidyl-prolyl cis-trans isomerase A, N-terminally processed
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Reduced ability to stimulate MAPK/ERK phosphorylation.
up seq anno comments: Removed; alternate
up seq anno feature ids: PRO_0000064115
up seq anno feature ids: PRO_0000423240
up seq anno feature ids: VSP_056050

9606:MAPK8IP3
gene id: 9606:MAPK8IP3
uniprot id: A0A087WYG2
uniprot id: B7ZMF3
uniprot id: E9PFH7
uniprot id: Q9UPT6
up 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 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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: C-Jun-amino-terminal kinase-interacting protein 3
up seq anno comments: In NEDBA.
up seq anno comments: In NEDBA; affects axon development when expressed in a heterologous system.
up seq anno comments: In NEDBA; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by ROCK1
up seq anno comments: Phosphothreonine; by MAPK
up seq anno comments: Polar residues
up seq anno comments: RH1
up seq anno comments: RH2
up seq anno feature ids: PRO_0000220633
up seq anno feature ids: VAR_049667
up seq anno feature ids: VAR_082608
up seq anno feature ids: VAR_082609
up seq anno feature ids: VAR_082610
up seq anno feature ids: VAR_082611
up seq anno feature ids: VAR_082612
up seq anno feature ids: VAR_082613
up seq anno feature ids: VAR_082614
up seq anno feature ids: VAR_082615
up seq anno feature ids: VSP_024430
up seq anno feature ids: VSP_024431

9606:GMPR
gene id: 9606:GMPR
uniprot id: P36959
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: Site
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: GMP reductase 1
up seq anno comments: Proton donor/acceptor
up seq anno comments: Thioimidate intermediate
up seq anno comments: in other chain
up seq anno feature ids: PRO_0000093723
up seq anno feature ids: VAR_003969
up seq anno feature ids: VAR_003970

9606:F8A2
gene id: 9606:F8A2
uniprot id: P23610
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 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: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 40-kDa huntingtin-associated protein
up seq anno comments: N-acetylalanine
up seq anno comments: Nuclear localization signal
up seq anno comments: Pro residues
up seq anno comments: Removed
up seq anno feature ids: PRO_0000087159

9606:PRPF18
gene id: 9606:PRPF18
uniprot id: Q99633
up 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 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:FARS2
gene id: 9606:FARS2
uniprot id: O95363
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: Secondary Structure
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: Modified 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: FDX-ACB
up seq anno comments: In COXPD14; results in a 4-fold decrease in the catalytic efficiency of amino acid activation mainly due to a decreased affinity for ATP; does not affect Phe binding; affects the stability of the enzyme, leading to a significant decrease in overall charging capacity.
up seq anno comments: In COXPD14; results in a decrease in affinity for Phe causing a decrease in aminoacylation activity; affects the stability of the enzyme, leading to a significant decrease in overall charging capacity.
up seq anno comments: In COXPD14; results in decreased affinity for tRNA causing a decrease in the catalytic efficiency for tRNA charging; does not affect ATP or Phe binding.
up seq anno comments: In SPG77; resulted in severely impaired phenylalanine-tRNA ligase activity.
up seq anno comments: Mitochondrion
up seq anno comments: N6-acetyllysine
up seq anno comments: Phenylalanine--tRNA ligase, mitochondrial
up seq anno feature ids: PRO_0000035813
up seq anno feature ids: VAR_052642
up seq anno feature ids: VAR_052643
up seq anno feature ids: VAR_069487
up seq anno feature ids: VAR_069488
up seq anno feature ids: VAR_069489
up seq anno feature ids: VAR_077044

9606:RGP1
gene id: 9606:RGP1
uniprot id: Q92546
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno comments: RAB6A-GEF complex partner protein 2
up seq anno feature ids: PRO_0000050741

9606:NEDD4
gene id: 9606:NEDD4
uniprot id: P46934
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: Secondary Structure
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: 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: 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 ARRDC3; when associated with A-795 and A-868.
up seq anno comments: Abolishes interaction with ARRDC3; when associated with A-795 and A-920.
up seq anno comments: Abolishes interaction with ARRDC3; when associated with A-868 and A-920.
up seq anno comments: Abolishes ubiquitination of DAZAP2.
up seq anno comments: E3 ubiquitin-protein ligase NEDD4
up seq anno comments: Glycyl thioester intermediate
up seq anno comments: HECT
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: Increased nuclear localization.
up seq anno comments: N-acetylalanine
up seq anno comments: Nuclear export signal
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
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_0000120319
up seq anno feature ids: VAR_036472
up seq anno feature ids: VAR_047909
up seq anno feature ids: VAR_047910
up seq anno feature ids: VAR_061985
up seq anno feature ids: VSP_038256
up seq anno feature ids: VSP_038257
up seq anno feature ids: VSP_038258
up seq anno feature ids: VSP_038259

9606:SMCR8
gene id: 9606:SMCR8
uniprot id: Q8TEV9
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: Secondary Structure
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: 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: Guanine nucleotide exchange protein SMCR8
up seq anno comments: Impaired autophagosome maturation; when associated with A-402.
up seq anno comments: Impaired autophagosome maturation; when associated with A-796.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of C9ORF72-SMCR8 complex-mediated stimulation of RAB8A and RAB11A GTPase activity.
up seq anno comments: Phosphomimetic mutant; able to promote autophagosome maturation; when associated with D-402.
up seq anno comments: Phosphomimetic mutant; able to promote autophagosome maturation; when associated with D-796.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by TBK1
up seq anno comments: Phosphothreonine; by TBK1
up seq anno comments: Polar residues
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_0000287469
up seq anno feature ids: VAR_032309
up seq anno feature ids: VAR_032310
up seq anno feature ids: VAR_032311
up seq anno feature ids: VSP_025487

9606:ZNF577
gene id: 9606:ZNF577
uniprot id: A0A024R4N6
uniprot id: Q9BSK1
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 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 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: In isoform 2.
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 577
up seq anno feature ids: PRO_0000234590
up seq anno feature ids: VAR_033577
up seq anno feature ids: VAR_055139
up seq anno feature ids: VAR_055140
up seq anno feature ids: VAR_055141
up seq anno feature ids: VAR_055142
up seq anno feature ids: VAR_055143
up seq anno feature ids: VAR_055144
up seq anno feature ids: VAR_055145
up seq anno feature ids: VSP_040810

9606:CTNNBL1
gene id: 9606:CTNNBL1
uniprot id: Q8WYA6
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: 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: 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: 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:UNC5B
gene id: 9606:UNC5B
uniprot id: Q8IZJ1
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 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: 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: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Abolishes cleavage by caspase-3 and subsequent induction of apoptosis.
up seq anno comments: Cytoplasmic
up seq anno comments: Death
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 isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Netrin receptor UNC5B
up seq anno comments: Phosphotyrosine
up seq anno comments: S-palmitoyl cysteine
up seq anno comments: TSP type-1 1
up seq anno comments: TSP type-1 2
up seq anno comments: ZU5
up seq anno feature ids: PRO_0000036071
up seq anno feature ids: VAR_019730
up seq anno feature ids: VAR_052472
up seq anno feature ids: VSP_011698

9606:AEBP2
gene id: 9606:AEBP2
uniprot id: Q6ZN18
up 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 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: 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: C2H2-type 1
up seq anno comments: C2H2-type 2; degenerate
up seq anno comments: C2H2-type 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: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno comments: Zinc finger protein AEBP2
up seq anno feature ids: PRO_0000341590
up seq anno feature ids: VSP_034357
up seq anno feature ids: VSP_034358
up seq anno feature ids: VSP_034359

9606:NFATC2
gene id: 9606:NFATC2
uniprot id: B5B2P4
uniprot id: Q13469
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: Secondary Structure
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: Motif
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: 1
up seq anno comments: 2
up seq anno comments: 3; approximate
up seq anno comments: 9aaTAD
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: Nuclear export signal
up seq anno comments: Nuclear factor of activated T-cells, cytoplasmic 2
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: RHD
up seq anno feature ids: PRO_0000205178
up seq anno feature ids: VAR_051783
up seq anno feature ids: VSP_005595
up seq anno feature ids: VSP_042757
up seq anno feature ids: VSP_055926

9606:H3C6
gene id: 9606:H3C6
uniprot id: P68431
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: 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 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: 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-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:CCDC66
gene id: 9606:CCDC66
uniprot id: A2RUB6
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 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: 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 66
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: Loss of association with microtubules and localization to centrosomes.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000320037
up seq anno feature ids: VAR_039111
up seq anno feature ids: VAR_039112
up seq anno feature ids: VAR_039113
up seq anno feature ids: VAR_080466
up seq anno feature ids: VAR_080467
up seq anno feature ids: VSP_031586
up seq anno feature ids: VSP_031587
up seq anno feature ids: VSP_036545
up seq anno feature ids: VSP_036546

9606:VEPH1
gene id: 9606:VEPH1
uniprot id: Q14D04
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 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: In isoform 4.
up seq anno comments: PH
up seq anno comments: Ventricular zone-expressed PH domain-containing protein homolog 1
up seq anno feature ids: PRO_0000297955
up seq anno feature ids: VAR_034692
up seq anno feature ids: VAR_034693
up seq anno feature ids: VAR_034694
up seq anno feature ids: VAR_034695
up seq anno feature ids: VAR_034696
up seq anno feature ids: VAR_034697
up seq anno feature ids: VAR_034698
up seq anno feature ids: VAR_061683
up seq anno feature ids: VSP_027431
up seq anno feature ids: VSP_027432
up seq anno feature ids: VSP_027433
up seq anno feature ids: VSP_047655
up seq anno feature ids: VSP_047656

9606:PERM1
gene id: 9606:PERM1
uniprot id: Q5SV97
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: PGC-1 and ERR-induced regulator in muscle protein 1
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000299540
up seq anno feature ids: VSP_027731
up seq anno feature ids: VSP_053677

9606:SMAD3
gene id: 9606:SMAD3
uniprot id: A0A024R5Z3
uniprot id: P84022
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: Secondary Structure
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: 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: 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: 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: 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: Slightly decreased monoubiquitination.
up seq anno feature ids: PRO_0000090856
up seq anno feature ids: VAR_036474
up seq anno feature ids: VAR_052021
up seq anno feature ids: VAR_065578
up seq anno feature ids: VAR_065579
up seq anno feature ids: VAR_067047
up seq anno feature ids: VAR_067048
up seq anno feature ids: VAR_067051
up seq anno feature ids: VSP_042900
up seq anno feature ids: VSP_043793
up seq anno feature ids: VSP_045348

9606:BBX
gene id: 9606:BBX
uniprot id: A8K6U2
uniprot id: Q8WY36
up 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 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: Modified Residue
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: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: HMG box
up seq anno comments: HMG box transcription factor BBX
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 feature ids: PRO_0000232885
up seq anno feature ids: VAR_061264
up seq anno feature ids: VSP_018006
up seq anno feature ids: VSP_054880
up seq anno feature ids: VSP_054881

9606:OR8B4
gene id: 9606:OR8B4
uniprot id: Q96RC9
up 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 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 8B4
up seq anno feature ids: PRO_0000150656
up seq anno feature ids: VAR_024115
up seq anno feature ids: VAR_053239
up seq anno feature ids: VAR_053240
up seq anno feature ids: VAR_053241

9606:TLK2
gene id: 9606:TLK2
uniprot id: A0A804HJZ9
uniprot id: A0A804HK10
uniprot id: B4DUC2
uniprot id: J3QLK5
uniprot id: Q86UE8
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: Secondary Structure
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: 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: Basic and acidic residues
up seq anno comments: In MRD57.
up seq anno comments: In MRD57; exhibits abnormal perinuclear localization instead of diffuse nuclear localization; impairs kinase activity; reduced phosphorylation of ASF1A.
up seq anno comments: In MRD57; reduced kinase activity.
up seq anno comments: In MRD57; reduced phosphorylation of ASF1A.
up seq anno comments: In MRD57; severely reduced kinase activity.
up seq anno comments: In MRD57; unknown pathological significance.
up seq anno comments: In MRD57; unknown pathological significance; exhibits abnormal perinuclear localization instead of diffuse nuclear localization; mildly impairs kinase activity; reduced phosphorylation of ASF1A.
up seq anno comments: In a gastric adenocarcinoma sample; somatic mutation.
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: Increase in autophosphorylation.
up seq anno comments: Loss of kinase activity.
up seq anno comments: Loss of kinase activity. No impact on interaction with ASF1A.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CHEK1
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.
up seq anno comments: Reduced phosphorylation of ASF1A.
up seq anno comments: Serine/threonine-protein kinase tousled-like 2
up seq anno feature ids: PRO_0000086754
up seq anno feature ids: VAR_041216
up seq anno feature ids: VAR_041217
up seq anno feature ids: VAR_041218
up seq anno feature ids: VAR_041219
up seq anno feature ids: VAR_041220
up seq anno feature ids: VAR_041221
up seq anno feature ids: VAR_041222
up seq anno feature ids: VAR_081017
up seq anno feature ids: VAR_081018
up seq anno feature ids: VAR_081019
up seq anno feature ids: VAR_081020
up seq anno feature ids: VAR_081021
up seq anno feature ids: VAR_081022
up seq anno feature ids: VAR_081023
up seq anno feature ids: VAR_081024
up seq anno feature ids: VAR_081025
up seq anno feature ids: VAR_081026
up seq anno feature ids: VAR_081027
up seq anno feature ids: VAR_081028
up seq anno feature ids: VAR_081029
up seq anno feature ids: VAR_081030
up seq anno feature ids: VAR_081031
up seq anno feature ids: VAR_081032
up seq anno feature ids: VAR_081033
up seq anno feature ids: VAR_081034
up seq anno feature ids: VAR_081035
up seq anno feature ids: VAR_087040
up seq anno feature ids: VAR_087041
up seq anno feature ids: VAR_087042
up seq anno feature ids: VSP_050572

9606:KCTD19
gene id: 9606:KCTD19
uniprot id: Q17RG1
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: BTB 1
up seq anno comments: BTB 2
up seq anno comments: BTB/POZ domain-containing protein KCTD19
up seq anno comments: Basic and acidic residues
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000313587
up seq anno feature ids: VAR_049723

9606:INKA2
gene id: 9606:INKA2
uniprot id: Q9NTI7
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 comments: Basic and acidic residues
up seq anno comments: PAK4-inhibitor INKA2
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000304994

9606:ZNF568
gene id: 9606:ZNF568
uniprot id: A0A087WZ84
uniprot id: A2VDJ6
uniprot id: Q3ZCX4
uniprot id: Q96AZ9
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 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: 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 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 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: KRAB
up seq anno comments: Polar residues
up seq anno comments: Zinc finger protein 568
up seq anno feature ids: PRO_0000306877
up seq anno feature ids: VAR_052867
up seq anno feature ids: VAR_052868
up seq anno feature ids: VSP_028556
up seq anno feature ids: VSP_046815

9606:BEND7
gene id: 9606:BEND7
uniprot id: Q8N7W2
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: BEN
up seq anno comments: BEN domain-containing protein 7
up seq anno comments: Basic and acidic residues
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
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.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000244080
up seq anno feature ids: VAR_035501
up seq anno feature ids: VAR_057830
up seq anno feature ids: VSP_019506
up seq anno feature ids: VSP_019507
up seq anno feature ids: VSP_019508
up seq anno feature ids: VSP_039846
up seq anno feature ids: VSP_039847

9606:SOWAHD
gene id: 9606:SOWAHD
uniprot id: A6NJG2
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Repeat
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: Ankyrin repeat domain-containing protein SOWAHD
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000315705
up seq anno feature ids: VAR_061019

9606:NBEAL2
gene id: 9606:NBEAL2
uniprot id: Q6ZNJ1
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 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: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: BEACH
up seq anno comments: BEACH-type PH
up seq anno comments: In GPS.
up seq anno comments: In a patient with gray platelet syndrome.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Neurobeachin-like protein 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: 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_0000333254
up seq anno feature ids: VAR_043133
up seq anno feature ids: VAR_043134
up seq anno feature ids: VAR_043135
up seq anno feature ids: VAR_043136
up seq anno feature ids: VAR_043137
up seq anno feature ids: VAR_066975
up seq anno feature ids: VAR_066976
up seq anno feature ids: VAR_066977
up seq anno feature ids: VAR_066978
up seq anno feature ids: VAR_066979
up seq anno feature ids: VAR_066980
up seq anno feature ids: VAR_066981
up seq anno feature ids: VAR_066982
up seq anno feature ids: VAR_066983
up seq anno feature ids: VAR_066984
up seq anno feature ids: VAR_066985
up seq anno feature ids: VSP_033505
up seq anno feature ids: VSP_033506
up seq anno feature ids: VSP_033507

9606:DPCD
gene id: 9606:DPCD
uniprot id: Q9BVM2
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Protein DPCD
up seq anno feature ids: PRO_0000323723
up seq anno feature ids: VAR_039574
up seq anno feature ids: VAR_039575

9606:GOLGA8K
gene id: 9606:GOLGA8K
uniprot id: D6RF30
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 comments: Basic and acidic residues
up seq anno comments: Golgin subfamily A member 8K
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000420859

9606:PSMA1
gene id: 9606:PSMA1
uniprot id: B4E0X6
uniprot id: P25786
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: Secondary Structure
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: 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: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Helical
up seq anno comments: In isoform Long.
up seq anno comments: N-acetylmethionine
up seq anno comments: O-linked (GlcNAc) serine; alternate
up seq anno comments: PROTEASOME_ALPHA_1
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; alternate
up seq anno comments: Proteasome subunit alpha type-1
up seq anno feature ids: PRO_0000124060
up seq anno feature ids: VAR_067454
up seq anno feature ids: VSP_005279

9606:GOLPH3
gene id: 9606:GOLPH3
uniprot id: Q9H4A6
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: 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: 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: Abolishes phosphoinositide binding and localization to the Golgi apparatus; when associated with A-171 or L-171.
up seq anno comments: Abolishes phosphoinositide binding and localization to the Golgi apparatus; when associated with A-174.
up seq anno comments: Abolishes phosphoinositide binding and localization to the Golgi apparatus; when associated with A-81.
up seq anno comments: Abolishes phosphoinositide binding and localization to the Golgi apparatus; when associated with A-90.
up seq anno comments: Altered binding to coatomer.
up seq anno comments: Basic and acidic residues
up seq anno comments: Golgi phosphoprotein 3
up seq anno comments: Loss of binding to coatomer.
up seq anno comments: Loss of function in vesicle budding, abolishes phosphoinositide binding and localization to the Golgi apparatus.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000123819

9606:POLR2D
gene id: 9606:POLR2D
uniprot id: O15514
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: Strand
up seq anno labels: Turn
up seq anno comments: DNA-directed RNA polymerase II subunit RPB4
up seq anno feature ids: PRO_0000073981

9606:SDC2
gene id: 9606:SDC2
uniprot id: A0A024R9D1
uniprot id: E9PBI9
uniprot id: P34741
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: Secondary Structure
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: 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: 4.1m
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: O-linked (GalNAc...) threonine
up seq anno comments: O-linked (Xyl...) (heparan sulfate) serine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by FAM20C
up seq anno comments: Syndecan
up seq anno comments: Syndecan-2
up seq anno feature ids: PRO_0000033503
up seq anno feature ids: PRO_5001533281
up seq anno feature ids: VAR_034675
up seq anno feature ids: VAR_034676

9606:FGF19
gene id: 9606:FGF19
uniprot id: A0A7U3L4E7
uniprot id: O95750
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Secondary Structure
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Helix
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Fibroblast growth factor
up seq anno comments: Fibroblast growth factor 19
up seq anno feature ids: PRO_0000008993
up seq anno feature ids: PRO_5035486505

9606:FJX1
gene id: 9606:FJX1
uniprot id: Q86VR8
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 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 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:GBP3
gene id: 9606:GBP3
uniprot id: Q9H0R5
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: 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: GB1/RHD3-type G
up seq anno comments: Guanylate-binding protein 3
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000261159
up seq anno feature ids: VAR_029082
up seq anno feature ids: VAR_029083
up seq anno feature ids: VAR_029084
up seq anno feature ids: VAR_054136
up seq anno feature ids: VAR_054137
up seq anno feature ids: VAR_054138
up seq anno feature ids: VSP_044360
up seq anno feature ids: VSP_044361

9606:ZNF449
gene id: 9606:ZNF449
uniprot id: Q6P9G9
uniprot id: Q7Z3P1
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 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
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: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: SCAN box
up seq anno comments: Zinc finger protein 449
up seq anno feature ids: PRO_0000047597
up seq anno feature ids: VSP_011949
up seq anno feature ids: VSP_011950
up seq anno feature ids: VSP_011951
up seq anno feature ids: VSP_011952

9606:SPRR2E
gene id: 9606:SPRR2E
uniprot id: P22531
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
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: Small proline-rich protein 2E
up seq anno feature ids: PRO_0000150011

9606:DDX54
gene id: 9606:DDX54
uniprot id: Q8TDD1
up 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: 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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: ATP-dependent RNA helicase DDX54
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: DEAD box
up seq anno comments: Found in a patient with a neurodevelopmental disorder; unknown pathological significance.
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: Q motif
up seq anno feature ids: PRO_0000055056
up seq anno feature ids: VAR_033860
up seq anno feature ids: VAR_052171
up seq anno feature ids: VAR_052172
up seq anno feature ids: VAR_052173
up seq anno feature ids: VAR_083615
up seq anno feature ids: VAR_083616
up seq anno feature ids: VAR_083617
up seq anno feature ids: VAR_083618
up seq anno feature ids: VAR_083619
up seq anno feature ids: VSP_040135

9606:SOCS7
gene id: 9606:SOCS7
uniprot id: O14512
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 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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: Loss of IRS1 ubiquitination and degradation.
up seq anno comments: Pro residues
up seq anno comments: SH2
up seq anno comments: SOCS box
up seq anno comments: Suppressor of cytokine signaling 7
up seq anno feature ids: PRO_0000181253
up seq anno feature ids: VSP_021645

9606:KAT2B
gene id: 9606:KAT2B
uniprot id: Q92831
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: 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: 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: Basic and acidic residues
up seq anno comments: Bromo
up seq anno comments: Complete loss of acetyl-lysine binding.
up seq anno comments: Found in a patient with isolated coloboma; unknown pathological significance.
up seq anno comments: Histone acetyltransferase KAT2B
up seq anno comments: N-acetyltransferase
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Proton donor/acceptor
up seq anno comments: Reduced acetyl-lysine binding.
up seq anno feature ids: PRO_0000211208
up seq anno feature ids: VAR_034372
up seq anno feature ids: VAR_079852

9606:UBE3D
gene id: 9606:UBE3D
uniprot id: Q7Z6J8
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 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 comments: E3 ubiquitin-protein ligase E3D
up seq anno comments: N-acetylalanine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000311190
up seq anno feature ids: VAR_037152
up seq anno feature ids: VAR_037153

9606:MYLK2
gene id: 9606:MYLK2
uniprot id: Q9H1R3
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: Secondary Structure
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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
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:ZIM2
gene id: 9606:ZIM2
uniprot id: A0A024R4S8
uniprot id: Q9NZV7
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Sequence 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 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: KRAB
up seq anno comments: Polar residues
up seq anno comments: Zinc finger imprinted 2
up seq anno feature ids: PRO_0000047774
up seq anno feature ids: VAR_021896
up seq anno feature ids: VAR_052931
up seq anno feature ids: VAR_052932

9606:KCNH8
gene id: 9606:KCNH8
uniprot id: Q96L42
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: 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: INTRAMEM
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 labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
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 isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: PAC
up seq anno comments: PAS
up seq anno comments: Polar residues
up seq anno comments: Pore-forming; Name=Segment H5
up seq anno comments: Potassium voltage-gated channel subfamily H member 8
up seq anno comments: Selectivity filter
up seq anno feature ids: PRO_0000054018
up seq anno feature ids: VAR_055098
up seq anno feature ids: VAR_055099
up seq anno feature ids: VSP_057036
up seq anno feature ids: VSP_057037
up seq anno feature ids: VSP_057038
up seq anno feature ids: VSP_057039

9606:CAMK4
gene id: 9606:CAMK4
uniprot id: Q16566
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: Secondary Structure
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: Glycosylation Site
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: Basic and acidic residues
up seq anno comments: Calcium/calmodulin-dependent protein kinase type IV
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: 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:PARP8
gene id: 9606:PARP8
uniprot id: B2RB27
uniprot id: E9PFI7
uniprot id: Q8N3A8
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: ADP-ribosylcysteine
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: PARP catalytic
up seq anno comments: Polar residues
up seq anno comments: Protein mono-ADP-ribosyltransferase PARP8
up seq anno feature ids: PRO_0000252433
up seq anno feature ids: VAR_035853
up seq anno feature ids: VSP_020970

9606:TNNC2
gene id: 9606:TNNC2
uniprot id: C9J7T9
uniprot id: P02585
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: 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 Conflict
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: N-acetylthreonine
up seq anno comments: Removed
up seq anno comments: Troponin C, skeletal muscle
up seq anno feature ids: PRO_0000073703

9606:NSUN3
gene id: 9606:NSUN3
uniprot id: Q9H649
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: Site
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 Variant
up seq anno comments: Catalytic mutant. Abolishes ability to methylate mt-tRNA(Met).
up seq anno comments: In C2A; catalytic mutant. Abolishes ability to methylate mt-tRNA(Met).
up seq anno comments: In COXPD48.
up seq anno comments: In COXPD48; unknown pathological significance.
up seq anno comments: Nucleophile
up seq anno comments: tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial
up seq anno feature ids: PRO_0000289230
up seq anno feature ids: VAR_032605
up seq anno feature ids: VAR_077445
up seq anno feature ids: VAR_085049
up seq anno feature ids: VAR_085050

9606:RAB28
gene id: 9606:RAB28
uniprot id: P51157
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: Secondary Structure
up seq anno parent labels: 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: 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:KIAA1217
gene id: 9606:KIAA1217
uniprot id: B7ZM29
uniprot id: Q5T5P2
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: AIP3
up seq anno comments: Basic and acidic residues
up seq anno comments: Found in a patient with Klippel-Feil syndrome; unknown pathological significance.
up seq anno comments: In isoform 10.
up seq anno comments: In isoform 2, isoform 4 and isoform 9.
up seq anno comments: In isoform 3, isoform 4, isoform 5, isoform 6, isoform 7 and isoform 10.
up seq anno comments: In isoform 3, isoform 4, isoform 6 and isoform 7.
up seq anno comments: In isoform 5 and isoform 7.
up seq anno comments: In isoform 6 and isoform 10.
up seq anno comments: In isoform 9.
up seq anno comments: O-linked (GlcNAc) serine
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: Sickle tail protein homolog
up seq anno feature ids: PRO_0000287897
up seq anno feature ids: VAR_051358
up seq anno feature ids: VAR_051359
up seq anno feature ids: VAR_051360
up seq anno feature ids: VAR_085329
up seq anno feature ids: VSP_030353
up seq anno feature ids: VSP_052427
up seq anno feature ids: VSP_052428
up seq anno feature ids: VSP_052429
up seq anno feature ids: VSP_052430
up seq anno feature ids: VSP_052431
up seq anno feature ids: VSP_052432
up seq anno feature ids: VSP_054107
up seq anno feature ids: VSP_054874

9606:KCNS2
gene id: 9606:KCNS2
uniprot id: Q9ULS6
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: INTRAMEM
up seq anno labels: Motif
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=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: Potassium voltage-gated channel subfamily S member 2
up seq anno comments: Selectivity filter
up seq anno feature ids: PRO_0000054084

9606:JPT1
gene id: 9606:JPT1
uniprot id: Q9UK76
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 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: 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: Jupiter microtubule associated homolog 1
up seq anno comments: Jupiter microtubule associated homolog 1, N-terminally processed
up seq anno comments: N-acetylmethionine
up seq anno comments: N-acetylthreonine; in Hematological and neurological expressed 1 protein, N-terminally processed
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: Removed; alternate
up seq anno feature ids: PRO_0000054918
up seq anno feature ids: PRO_0000424487
up seq anno feature ids: VSP_017132
up seq anno feature ids: VSP_017133

9606:DCP2
gene id: 9606:DCP2
uniprot id: Q8IU60
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: Secondary Structure
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: 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: In isoform 2.
up seq anno comments: Leads to reduced autophagosome formation under autophagy-inducing conditions.
up seq anno comments: Leads to the accumulation of autophagosomes under normal growth conditions.
up seq anno comments: Loss of decapping activity; when associated with Q-148.
up seq anno comments: Nudix box
up seq anno comments: Nudix hydrolase
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Strongly reduced decapping activity.
up seq anno comments: m7GpppN-mRNA hydrolase
up seq anno feature ids: PRO_0000057051
up seq anno feature ids: VAR_059528
up seq anno feature ids: VSP_012908

9606:RGPD3
gene id: 9606:RGPD3
uniprot id: A6NKT7
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: 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: Repeat
up seq anno comments: Basic and acidic residues
up seq anno comments: GRIP
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: RanBD1 1
up seq anno comments: RanBD1 2
up seq anno comments: RanBP2-like and GRIP domain-containing protein 3
up seq anno comments: TPR 1
up seq anno comments: TPR 2
up seq anno feature ids: PRO_0000340666

9606:MDC1
gene id: 9606:MDC1
uniprot id: A0A1U9XBC1
uniprot id: A1Z5I9
uniprot id: Q14676
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: Secondary Structure
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: 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: Abrogates binding to CHEK2.
up seq anno comments: Abrogates binding to CHEK2; when associated with A-96 and A-97.
up seq anno comments: Abrogates binding to CHEK2; when associated with A-96 and A-98.
up seq anno comments: Abrogates binding to CHEK2; when associated with A-97 and A-98.
up seq anno comments: Abrogates binding to the MRE11 complex and to CHEK2.
up seq anno comments: Acidic residues
up seq anno comments: BRCT
up seq anno comments: BRCT 1
up seq anno comments: BRCT 2
up seq anno comments: Basic and acidic residues
up seq anno comments: FHA
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 4.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Mediator of DNA damage checkpoint protein 1
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 ATM
up seq anno comments: Polar residues
up seq anno comments: Suppresses RNF4-mediated ubiquitination, accumulates at sites of DNA damage, defective homologous recombination.
up seq anno feature ids: PRO_0000096316
up seq anno feature ids: VAR_022843
up seq anno feature ids: VAR_022844
up seq anno feature ids: VAR_022845
up seq anno feature ids: VAR_022846
up seq anno feature ids: VAR_022847
up seq anno feature ids: VAR_022848
up seq anno feature ids: VAR_043922
up seq anno feature ids: VAR_043923
up seq anno feature ids: VAR_051160
up seq anno feature ids: VAR_051161
up seq anno feature ids: VAR_051162
up seq anno feature ids: VAR_051163
up seq anno feature ids: VAR_051164
up seq anno feature ids: VAR_051165
up seq anno feature ids: VAR_051166
up seq anno feature ids: VAR_051167
up seq anno feature ids: VAR_051168
up seq anno feature ids: VAR_051169
up seq anno feature ids: VAR_051170
up seq anno feature ids: VSP_014593
up seq anno feature ids: VSP_034103
up seq anno feature ids: VSP_034104

9606:TAX1BP1
gene id: 9606:TAX1BP1
uniprot id: B4DSG5
uniprot id: Q86VP1
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: Secondary Structure
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: 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 labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: Complete loss of MAP1LC3B binding.
up seq anno comments: Complete loss of TBK1 and RB1CC1 binding.
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 3.
up seq anno comments: In isoform 4.
up seq anno comments: Normal affinity for ubiquitin.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by IKKA
up seq anno comments: Polar residues
up seq anno comments: Reduced affinity for ubiquitin.
up seq anno comments: Tax1-binding protein 1
up seq anno comments: UBZ1-type
up seq anno comments: UBZ1-type 1
up seq anno comments: UBZ1-type 2
up seq anno feature ids: PRO_0000234554
up seq anno feature ids: VAR_026286
up seq anno feature ids: VAR_035665
up seq anno feature ids: VAR_051415
up seq anno feature ids: VSP_018354
up seq anno feature ids: VSP_018355
up seq anno feature ids: VSP_045921

9606:CRTC2
gene id: 9606:CRTC2
uniprot id: Q53ET0
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: Secondary Structure
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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Asymmetric dimethylarginine; by PRMT6
up seq anno comments: CREB-regulated transcription coactivator 2
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Impaired phosphorylation under low glucose conditions and impaired interaction with 14-3-3 proteins; when associated with A-171.
up seq anno comments: Loss of cAMP- and calcium-regulated phosphorylation. Greatly reduced interaction with 14-3-3 proteins. Impaired phosphorylation under low glucose conditions and impaired interaction with 14-3-3 proteins; when associated with A-274.
up seq anno comments: N-acetylalanine
up seq anno comments: No effect on cAMP- and calcium-regulated phosphorylation.
up seq anno comments: Nuclear export signal
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by AMPK, MARK2, SIK1 and SIK2
up seq anno comments: Phosphoserine; by MARK2
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: Reduced cAMP- and calcium-regulated phosphorylation.
up seq anno comments: Removed
up seq anno feature ids: PRO_0000318528
up seq anno feature ids: VAR_038756
up seq anno feature ids: VAR_038757

9606:RNF114
gene id: 9606:RNF114
uniprot id: Q9Y508
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: 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 labels: Zinc Finger
up seq anno comments: C2HC RNF-type
up seq anno comments: E3 ubiquitin-protein ligase RNF114
up seq anno comments: In isoform 2.
up seq anno comments: N6-acetyllysine
up seq anno comments: RING-type
up seq anno feature ids: PRO_0000056307
up seq anno feature ids: VSP_036843
up seq anno feature ids: VSP_036844

9606:HS2ST1
gene id: 9606:HS2ST1
uniprot id: Q7LGA3
up 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: Site
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: 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; Signal-anchor for type II membrane protein
up seq anno comments: Heparan sulfate 2-O-sulfotransferase 1
up seq anno comments: In NFSRA.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000207674
up seq anno feature ids: VAR_085252
up seq anno feature ids: VAR_085253
up seq anno feature ids: VAR_085254
up seq anno feature ids: VSP_014062
up seq anno feature ids: VSP_014063
up seq anno feature ids: VSP_014064

9606:LRRC66
gene id: 9606:LRRC66
uniprot id: Q68CR7
up 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 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: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
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: LRR 6
up seq anno comments: Leucine-rich repeat-containing protein 66
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_0000329433
up seq anno feature ids: VAR_051124

9606:CENPK
gene id: 9606:CENPK
uniprot id: D6RHD3
uniprot id: Q9BS16
up seq anno parent labels: Experimental Information
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: Sequence Conflict
up seq anno comments: Centromere protein K
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000249482

9606:FKBP9
gene id: 9606:FKBP9
uniprot id: A7YQ73
uniprot id: O95302
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: 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: Motif
up seq anno labels: Non-terminal Residue
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
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 isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: PPIase FKBP-type
up seq anno comments: PPIase FKBP-type 1
up seq anno comments: PPIase FKBP-type 2
up seq anno comments: PPIase FKBP-type 3
up seq anno comments: PPIase FKBP-type 4
up seq anno comments: Peptidyl-prolyl cis-trans isomerase FKBP9
up seq anno comments: Prevents secretion from ER
up seq anno feature ids: PRO_0000045760
up seq anno feature ids: VSP_054825
up seq anno feature ids: VSP_054826

9606:CBY2
gene id: 9606:CBY2
uniprot id: A0A140VJV5
uniprot id: Q8NA61
up 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 labels: Chain
up seq anno labels: Coiled-Coil
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: Protein chibby homolog 2
up seq anno feature ids: PRO_0000307291
up seq anno feature ids: VAR_054064
up seq anno feature ids: VSP_028673
up seq anno feature ids: VSP_028674

9606:TBC1D8
gene id: 9606:TBC1D8
uniprot id: J3KQ40
uniprot id: O95759
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 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 comments: GRAM 1
up seq anno comments: GRAM 2
up seq anno comments: In isoform 2.
up seq anno comments: Rab-GAP TBC
up seq anno comments: TBC1 domain family member 8
up seq anno feature ids: PRO_0000208033
up seq anno feature ids: VAR_022128
up seq anno feature ids: VAR_022129
up seq anno feature ids: VAR_024654
up seq anno feature ids: VAR_047500
up seq anno feature ids: VAR_060542
up seq anno feature ids: VSP_038340

9606:MCCC2
gene id: 9606:MCCC2
uniprot id: A0A140VK29
uniprot id: Q9HCC0
up 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 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: CoA carboxyltransferase C-terminal
up seq anno comments: CoA carboxyltransferase N-terminal
up seq anno comments: In MCC2D.
up seq anno comments: In MCC2D; asymptomatic form.
up seq anno comments: In MCC2D; has some wild-type residual activity.
up seq anno comments: In MCC2D; mild form.
up seq anno comments: In MCC2D; produces severely decreased wild-type residual activity.
up seq anno comments: In MCC2D; severe and mild form.
up seq anno comments: In MCC2D; severe form.
up seq anno comments: In MCC2D; shows virtually no enzyme activity.
up seq anno comments: In MCC2D; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: Methylcrotonoyl-CoA carboxylase beta chain, 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_0000000291
up seq anno feature ids: VAR_012792
up seq anno feature ids: VAR_012793
up seq anno feature ids: VAR_012794
up seq anno feature ids: VAR_012795
up seq anno feature ids: VAR_012796
up seq anno feature ids: VAR_012797
up seq anno feature ids: VAR_012798
up seq anno feature ids: VAR_012799
up seq anno feature ids: VAR_012800
up seq anno feature ids: VAR_012801
up seq anno feature ids: VAR_038630
up seq anno feature ids: VAR_067199
up seq anno feature ids: VAR_067200
up seq anno feature ids: VAR_072507
up seq anno feature ids: VAR_072508
up seq anno feature ids: VAR_072509
up seq anno feature ids: VAR_072510
up seq anno feature ids: VAR_072511
up seq anno feature ids: VAR_072512
up seq anno feature ids: VAR_072513
up seq anno feature ids: VAR_072514
up seq anno feature ids: VAR_072515
up seq anno feature ids: VAR_072516
up seq anno feature ids: VAR_072517
up seq anno feature ids: VAR_072518
up seq anno feature ids: VAR_072519
up seq anno feature ids: VAR_072520
up seq anno feature ids: VAR_072521
up seq anno feature ids: VAR_072522
up seq anno feature ids: VAR_072523
up seq anno feature ids: VAR_072524
up seq anno feature ids: VAR_072525
up seq anno feature ids: VAR_072526
up seq anno feature ids: VAR_072527
up seq anno feature ids: VAR_072528
up seq anno feature ids: VAR_072529
up seq anno feature ids: VAR_072530
up seq anno feature ids: VAR_072531
up seq anno feature ids: VAR_072532
up seq anno feature ids: VAR_072533
up seq anno feature ids: VAR_072534
up seq anno feature ids: VAR_072535
up seq anno feature ids: VAR_072536
up seq anno feature ids: VAR_072537
up seq anno feature ids: VAR_072538
up seq anno feature ids: VAR_077291
up seq anno feature ids: VAR_077292
up seq anno feature ids: VAR_077293

9606:OBSCN
gene id: 9606:OBSCN
uniprot id: A6NGQ3
uniprot id: Q5VST9
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: Secondary Structure
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: 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: 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: 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
up seq anno comments: Ig-like 36
up seq anno comments: Ig-like 37
up seq anno comments: Ig-like 38
up seq anno comments: Ig-like 39
up seq anno comments: Ig-like 4
up seq anno comments: Ig-like 40
up seq anno comments: Ig-like 41
up seq anno comments: Ig-like 42
up seq anno comments: Ig-like 43
up seq anno comments: Ig-like 44
up seq anno comments: Ig-like 45
up seq anno comments: Ig-like 46
up seq anno comments: Ig-like 47
up seq anno comments: Ig-like 48
up seq anno comments: Ig-like 49
up seq anno comments: Ig-like 5
up seq anno comments: Ig-like 50

9606:ROBO4
gene id: 9606:ROBO4
uniprot id: B4DYV8
uniprot id: Q8WZ75
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
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: 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 AOVD3; loss of endothelial barrier function in a dextran permeability assay.
up seq anno comments: In AOVD3; unknown pathological significance.
up seq anno comments: In AOVD3; unknown pathological significance; requires 2 nucleotide substitutions.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
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: Pro residues
up seq anno comments: Roundabout homolog 4
up seq anno feature ids: PRO_0000031040
up seq anno feature ids: VAR_053644
up seq anno feature ids: VAR_062146
up seq anno feature ids: VAR_083093
up seq anno feature ids: VAR_083094
up seq anno feature ids: VAR_083095
up seq anno feature ids: VAR_083096
up seq anno feature ids: VAR_083097
up seq anno feature ids: VAR_083098
up seq anno feature ids: VAR_083099
up seq anno feature ids: VAR_083100
up seq anno feature ids: VAR_083101
up seq anno feature ids: VAR_083102
up seq anno feature ids: VSP_010654
up seq anno feature ids: VSP_010657
up seq anno feature ids: VSP_010658
up seq anno feature ids: VSP_010659

9606:EHBP1
gene id: 9606:EHBP1
uniprot id: A0A140VK17
uniprot id: A8K930
uniprot id: Q8NDI1
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: 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: Motif
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: BMERB
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: EH domain-binding protein 1
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 3.
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_0000285202
up seq anno feature ids: VAR_031992
up seq anno feature ids: VAR_035913
up seq anno feature ids: VSP_024834
up seq anno feature ids: VSP_024835

9606:ZNRF2
gene id: 9606:ZNRF2
uniprot id: A0A090N8Y8
uniprot id: Q8NHG8
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: Modified Residue
up seq anno labels: Zinc Finger
up seq anno comments: E3 ubiquitin-protein ligase ZNRF2
up seq anno comments: N-myristoyl glycine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: RING-type
up seq anno comments: RING-type; atypical
up seq anno comments: Removed
up seq anno feature ids: PRO_0000277803

9606:ZNF85
gene id: 9606:ZNF85
uniprot id: Q03923
uniprot id: Q49A12
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 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; degenerate
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
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 85
up seq anno feature ids: PRO_0000047398
up seq anno feature ids: VAR_033552
up seq anno feature ids: VAR_033553
up seq anno feature ids: VAR_033554
up seq anno feature ids: VAR_047515
up seq anno feature ids: VAR_061932
up seq anno feature ids: VAR_061933
up seq anno feature ids: VAR_061934
up seq anno feature ids: VSP_035771
up seq anno feature ids: VSP_042154
up seq anno feature ids: VSP_042155

9606:ASCL3
gene id: 9606:ASCL3
uniprot id: Q9NQ33
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Variant
up seq anno comments: Achaete-scute homolog 3
up seq anno comments: bHLH
up seq anno feature ids: PRO_0000127133
up seq anno feature ids: VAR_055948

9606:ZBBX
gene id: 9606:ZBBX
uniprot id: A8MT70
uniprot id: B7ZMD2
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 labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased 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: 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:ELOVL7
gene id: 9606:ELOVL7
uniprot id: A1L3X0
uniprot id: D6RHD0
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: 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: 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: Sequence Conflict
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: Elongation of very long chain fatty acids protein 7
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: HxxHH motif
up seq anno comments: Loss of activity alone or when associated with A-151.
up seq anno comments: Loss of activity; when associated with A-150.
up seq anno comments: Lumenal
up seq anno comments: N-acetylalanine
up seq anno comments: Nucleophile
up seq anno comments: Removed
up seq anno feature ids: PRO_0000311988

9606:BCAT1
gene id: 9606:BCAT1
uniprot id: A0A024RAV0
uniprot id: P54687
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: Secondary Structure
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: Branched-chain-amino-acid aminotransferase, cytosolic
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: In isoform 5.
up seq anno comments: N-acetylmethionine
up seq anno comments: N6-(pyridoxal phosphate)lysine
up seq anno feature ids: PRO_0000103292
up seq anno feature ids: VAR_019614
up seq anno feature ids: VAR_047681
up seq anno feature ids: VAR_047682
up seq anno feature ids: VSP_042651
up seq anno feature ids: VSP_042652
up seq anno feature ids: VSP_043560
up seq anno feature ids: VSP_046057

9606:NDP
gene id: 9606:NDP
uniprot id: Q00604
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: Secondary Structure
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 Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: CTCK
up seq anno comments: Impairs oligomerization.
up seq anno comments: In EVR2 and ND; reduced amount of protein in the extracellular matrix.
up seq anno comments: In EVR2.
up seq anno comments: In EVR2; the patient presented significant phenotypic heterogeneity between the two eyes.
up seq anno comments: In ND and EVR2.
up seq anno comments: In ND.
up seq anno comments: In ND; reduction of protein amount in the extracellular matrix.
up seq anno comments: In ND; unknown pathological significance.
up seq anno comments: In persistent fetal vasculature syndrome.
up seq anno comments: In retinopathy of prematurity.
up seq anno comments: Interchain
up seq anno comments: Interchain (with C-93)
up seq anno comments: Interchain (with C-95)
up seq anno comments: Norrin
up seq anno feature ids: PRO_0000021794
up seq anno feature ids: VAR_005478
up seq anno feature ids: VAR_005479
up seq anno feature ids: VAR_005480
up seq anno feature ids: VAR_005481
up seq anno feature ids: VAR_005482
up seq anno feature ids: VAR_005483
up seq anno feature ids: VAR_005484
up seq anno feature ids: VAR_005485
up seq anno feature ids: VAR_005486
up seq anno feature ids: VAR_005487
up seq anno feature ids: VAR_005488
up seq anno feature ids: VAR_005489
up seq anno feature ids: VAR_005490
up seq anno feature ids: VAR_005491
up seq anno feature ids: VAR_005492
up seq anno feature ids: VAR_005494
up seq anno feature ids: VAR_005495
up seq anno feature ids: VAR_005496
up seq anno feature ids: VAR_005497
up seq anno feature ids: VAR_005498
up seq anno feature ids: VAR_005499
up seq anno feature ids: VAR_005500
up seq anno feature ids: VAR_005501
up seq anno feature ids: VAR_005502
up seq anno feature ids: VAR_005503
up seq anno feature ids: VAR_005504
up seq anno feature ids: VAR_005505
up seq anno feature ids: VAR_009275
up seq anno feature ids: VAR_016048
up seq anno feature ids: VAR_016049
up seq anno feature ids: VAR_016050
up seq anno feature ids: VAR_016051
up seq anno feature ids: VAR_034137
up seq anno feature ids: VAR_063998
up seq anno feature ids: VAR_063999
up seq anno feature ids: VAR_064000
up seq anno feature ids: VAR_064001
up seq anno feature ids: VAR_064002
up seq anno feature ids: VAR_064003
up seq anno feature ids: VAR_064004
up seq anno feature ids: VAR_064005
up seq anno feature ids: VAR_064006
up seq anno feature ids: VAR_064007
up seq anno feature ids: VAR_064008
up seq anno feature ids: VAR_064009
up seq anno feature ids: VAR_064010
up seq anno feature ids: VAR_064011
up seq anno feature ids: VAR_064012

9606:OGT
gene id: 9606:OGT
uniprot id: O15294
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: Secondary Structure
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: 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: 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 homodimerization of the TPR domain. Slightly reduced enzyme activity; when associated with D-211.
up seq anno comments: Abolishes homodimerization of the TPR domain. Slightly reduced enzyme activity; when associated with E-208.
up seq anno comments: Found in a renal cell carcinoma sample; somatic mutation.
up seq anno comments: In XLID106; decreased protein abundance; decreased enzyme activity; reduced protein stability.
up seq anno comments: In XLID106; decreased protein abundance; reduced protein stability.
up seq anno comments: In XLID106; unknown pathological significance.
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: Loss of enzyme activity. Moderate increase in KMT2E ubiquitination. Moderate increase in KMT2E ubiquitination; when associated with A-508.
up seq anno comments: N-acetylalanine
up seq anno comments: Nuclear localization signal
up seq anno comments: O-linked (GlcNAc) serine; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by GSK3-beta; alternate
up seq anno comments: Phosphotyrosine
up seq anno comments: Proton acceptor
up seq anno comments: Reduces enzyme activity by about 95%. Moderate increase in KMT2E ubiquitination; when associated with A-508.
up seq anno comments: Reduces enzyme activity by over 90%.
up seq anno comments: Removed
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; truncated
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: UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit
up seq anno feature ids: PRO_0000191772
up seq anno feature ids: VAR_064736
up seq anno feature ids: VAR_074019
up seq anno feature ids: VAR_079183
up seq anno feature ids: VAR_079254
up seq anno feature ids: VSP_006553
up seq anno feature ids: VSP_014164
up seq anno feature ids: VSP_040764

9606:CES2
gene id: 9606:CES2
uniprot id: O00748
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: Site
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: 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 comments: Acyl-ester intermediate
up seq anno comments: Charge relay system
up seq anno comments: Cocaine esterase
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-linked (GlcNAc...) asparagine
up seq anno comments: Prevents secretion from ER
up seq anno comments: Pyrrolidone carboxylic acid
up seq anno feature ids: PRO_0000008572
up seq anno feature ids: VAR_018396
up seq anno feature ids: VAR_018397
up seq anno feature ids: VSP_010161
up seq anno feature ids: VSP_059804

9606:ATCAY
gene id: 9606:ATCAY
uniprot id: A0A0S2Z5T8
uniprot id: Q86WG3
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Alters cleavage by CASP3.
up seq anno comments: Basic and acidic residues
up seq anno comments: CRAL-TRIO
up seq anno comments: Caytaxin
up seq anno comments: Completely abolishes interaction with KLC1.
up seq anno comments: Helical
up seq anno comments: In ATCAY.
up seq anno comments: In isoform 2.
up seq anno comments: Reduced interaction with KLC1.
up seq anno feature ids: PRO_0000210767
up seq anno feature ids: VAR_017164
up seq anno feature ids: VSP_008748

9606:SOWAHC
gene id: 9606:SOWAHC
uniprot id: Q53LP3
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno comments: ANK 1
up seq anno comments: ANK 2
up seq anno comments: Ankyrin repeat domain-containing protein SOWAHC
up seq anno comments: Basic and acidic residues
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000274340

9606:ROBO2
gene id: 9606:ROBO2
uniprot id: F8W703
uniprot id: Q9HCK4
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: Secondary Structure
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: 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: 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: 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: In VUR2.
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: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Roundabout homolog 2
up seq anno feature ids: PRO_0000031036
up seq anno feature ids: PRO_5035731291
up seq anno feature ids: VAR_032960
up seq anno feature ids: VAR_032961
up seq anno feature ids: VSP_010647
up seq anno feature ids: VSP_043394

9606:MFHAS1
gene id: 9606:MFHAS1
uniprot id: Q9Y4C4
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 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: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
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: Roc
up seq anno feature ids: PRO_0000308609
up seq anno feature ids: VAR_036846
up seq anno feature ids: VAR_036847

9606:H1-10
gene id: 9606:H1-10
uniprot id: Q92522
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 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: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Citrulline
up seq anno comments: H15
up seq anno comments: Histone H1.10
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 feature ids: PRO_0000195912

9606:TBR1
gene id: 9606:TBR1
uniprot id: Q16650
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Decreased interaction with BCL11A.
up seq anno comments: In IDDAS; de novo variant; does not affect nuclear localization; no effect on transcriptional repression of FEZF2; does not affect homodimerization; does not affect interaction with FOXP2; does not affect interaction with BCL11A.
up seq anno comments: In IDDAS; de novo variant; localizes to the nucleus but forms abnormal aggregates; no effect on transcriptional repression of FEZF2; does not affect homodimerization; abolishes interaction with FOXP2; does not affect interaction with BCL11A.
up seq anno comments: In IDDAS; de novo variant; localizes to the nucleus but forms abnormal aggregates; no effect on transcriptional repression of FEZF2; does not affect homodimerization; severely decreased interaction with FOXP2; loss of interaction with FOXP1; does not affect interaction with BCL11A.
up seq anno comments: In IDDAS; unknown pathological significance; does not affect nuclear localization; no effect on transcriptional repression of FEZF2; does not affect homodimerization; decreased interaction with FOXP2; loss of interaction with BCL11A.
up seq anno comments: In IDDAS; unknown pathological significance; does not affect nuclear localization; no effect on transcriptional repression of FEZF2; does not affect homodimerization; does not affect interaction with FOXP2.
up seq anno comments: In IDDAS; unknown pathological significance; does not affect nuclear localization; no effect on transcriptional repression of FEZF2; does not affect homodimerization; does not affect interaction with FOXP2; does not affect interaction with BCL11A.
up seq anno comments: In isoform 2.
up seq anno comments: No effect on interaction with BCL11A.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: T-box
up seq anno comments: T-box brain protein 1
up seq anno feature ids: PRO_0000184457
up seq anno feature ids: VAR_052264
up seq anno feature ids: VAR_078646
up seq anno feature ids: VAR_081757
up seq anno feature ids: VAR_081758
up seq anno feature ids: VAR_081759
up seq anno feature ids: VAR_081760
up seq anno feature ids: VAR_081761
up seq anno feature ids: VAR_081762
up seq anno feature ids: VAR_081763
up seq anno feature ids: VAR_081764
up seq anno feature ids: VSP_056591

9606:RBM43
gene id: 9606:RBM43
uniprot id: Q6ZSC3
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Variant
up seq anno comments: RNA-binding protein 43
up seq anno comments: RRM
up seq anno feature ids: PRO_0000264247
up seq anno feature ids: VAR_033722

9606:OR56A5
gene id: 9606:OR56A5
uniprot id: A0A126GWP3
uniprot id: P0C7T3
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: 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_RECEP_F1_2
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 56A5
up seq anno feature ids: PRO_0000343673

9606:ANAPC4
gene id: 9606:ANAPC4
uniprot id: B3KN47
uniprot id: Q9UJX5
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: Secondary Structure
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: ANAPC4
up seq anno comments: Anaphase-promoting complex subunit 4
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:TMEM41B
gene id: 9606:TMEM41B
uniprot id: Q5BJD5
up 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 labels: Chain
up seq anno labels: Modified Residue
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: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Reduced infection with Yellow fever virus, Zika virus and Dengue virus; no effect on mobilization of neutral lipids from lipid droplets.
up seq anno comments: Reduced infection with flaviviruses such as Yellow fever virus, Zika virus and Dengue virus; no effect on mobilization of neutral lipids from lipid droplets.
up seq anno comments: Transmembrane protein 41B
up seq anno feature ids: PRO_0000291937
up seq anno feature ids: VAR_084309
up seq anno feature ids: VAR_084310
up seq anno feature ids: VSP_026316
up seq anno feature ids: VSP_026317
up seq anno feature ids: VSP_045268
up seq anno feature ids: VSP_045269

9606:MXRA5
gene id: 9606:MXRA5
uniprot id: Q9NR99
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 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: Repeat
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: Basic residues
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: In LNCR.
up seq anno comments: In LNCR; unknown pathological significance.
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: Matrix-remodeling-associated protein 5
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000254131
up seq anno feature ids: VAR_028821
up seq anno feature ids: VAR_056057
up seq anno feature ids: VAR_056058
up seq anno feature ids: VAR_056059
up seq anno feature ids: VAR_060357
up seq anno feature ids: VAR_060358
up seq anno feature ids: VAR_060359
up seq anno feature ids: VAR_060360
up seq anno feature ids: VAR_072405
up seq anno feature ids: VAR_072406
up seq anno feature ids: VAR_072407
up seq anno feature ids: VAR_072408
up seq anno feature ids: VAR_072409
up seq anno feature ids: VAR_072410
up seq anno feature ids: VAR_072411
up seq anno feature ids: VAR_072412
up seq anno feature ids: VAR_072413
up seq anno feature ids: VAR_072414
up seq anno feature ids: VAR_072415
up seq anno feature ids: VAR_076257
up seq anno feature ids: VAR_076258
up seq anno feature ids: VAR_076437

9606:TTLL12
gene id: 9606:TTLL12
uniprot id: A0A024R4U3
uniprot id: Q14166
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: 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: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Decreases expression of IFNB1 mRNA following infection with Sendai virus.
up seq anno comments: TTL
up seq anno comments: Tubulin--tyrosine ligase-like protein 12
up seq anno feature ids: PRO_0000212446
up seq anno feature ids: VAR_052413
up seq anno feature ids: VAR_052414
up seq anno feature ids: VAR_052415
up seq anno feature ids: VAR_052416

9606:SCAMP1
gene id: 9606:SCAMP1
uniprot id: A0A087WXB0
uniprot id: B4E2V7
uniprot id: O15126
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 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: 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: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Lumenal
up seq anno comments: N-acetylserine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Pro residues
up seq anno comments: Removed
up seq anno comments: Secretory carrier-associated membrane protein 1
up seq anno feature ids: PRO_0000191250
up seq anno feature ids: VSP_004380

9606:UPK1A
gene id: 9606:UPK1A
uniprot id: O00322
up 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 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: Uroplakin-1a
up seq anno feature ids: PRO_0000219286
up seq anno feature ids: VAR_020094
up seq anno feature ids: VAR_052332
up seq anno feature ids: VSP_030005

9606:SCFD1
gene id: 9606:SCFD1
uniprot id: Q8WVM8
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 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 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: Removed
up seq anno comments: Sec1 family domain-containing protein 1
up seq anno feature ids: PRO_0000206287
up seq anno feature ids: VAR_019616
up seq anno feature ids: VSP_047070
up seq anno feature ids: VSP_047071

9606:KCNC1
gene id: 9606:KCNC1
uniprot id: P48547
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 labels: Chain
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: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
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 EPM7; causes a dominant-negative loss of current upon membrane depolarization.
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: Potassium voltage-gated channel subfamily C member 1
up seq anno comments: Selectivity filter
up seq anno feature ids: PRO_0000054051
up seq anno feature ids: VAR_072705
up seq anno feature ids: VSP_055129

9606:DMRTC1
gene id: 9606:DMRTC1
uniprot id: A0A024R4F7
uniprot id: Q5HYR2
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Splice Variant
up seq anno comments: DMRT-like
up seq anno comments: Doublesex- and mab-3-related transcription factor C1
up seq anno comments: In isoform 2.
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000244102
up seq anno feature ids: VSP_019519

9606:VPS9D1
gene id: 9606:VPS9D1
uniprot id: Q9Y2B5
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 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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Pro residues
up seq anno comments: VPS9
up seq anno comments: VPS9 domain-containing protein 1
up seq anno feature ids: PRO_0000079279
up seq anno feature ids: VSP_040306

9606:JCHAIN
gene id: 9606:JCHAIN
uniprot id: P01591
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Secondary Structure
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 labels: Turn
up seq anno comments: Immunoglobulin J chain
up seq anno comments: Interchain (with heavy chain)
up seq anno comments: N-linked (GlcNAc...) (complex) asparagine
up seq anno comments: Pyrrolidone carboxylic acid
up seq anno feature ids: CAR_000167
up seq anno feature ids: PRO_0000084174

9606:ADAMTS14
gene id: 9606:ADAMTS14
uniprot id: Q8WXS8
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: 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: Domain Extent
up seq anno labels: Glycosylation 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: Splice Variant
up seq anno comments: A disintegrin and metalloproteinase with thrombospondin motifs 14
up seq anno comments: Disintegrin
up seq anno comments: In isoform B and isoform C.
up seq anno comments: In isoform C and isoform D.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: PLAC
up seq anno comments: Peptidase M12B
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 feature ids: PRO_0000029190
up seq anno feature ids: PRO_0000029191
up seq anno feature ids: VAR_047837
up seq anno feature ids: VAR_047838
up seq anno feature ids: VAR_047839
up seq anno feature ids: VAR_047840
up seq anno feature ids: VAR_047841
up seq anno feature ids: VSP_005501
up seq anno feature ids: VSP_006958

9606:MIB2
gene id: 9606:MIB2
uniprot id: Q96AX9
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: 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: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
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: E3 ubiquitin-protein ligase MIB2
up seq anno comments: In isoform 10.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4 and isoform 10.
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: MIB/HERC2 1
up seq anno comments: MIB/HERC2 2
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno comments: RING-type 1
up seq anno comments: RING-type 2
up seq anno comments: ZZ-type
up seq anno feature ids: PRO_0000055947
up seq anno feature ids: VSP_014393
up seq anno feature ids: VSP_014394
up seq anno feature ids: VSP_014395
up seq anno feature ids: VSP_014396
up seq anno feature ids: VSP_035508
up seq anno feature ids: VSP_035510
up seq anno feature ids: VSP_035511
up seq anno feature ids: VSP_035512
up seq anno feature ids: VSP_045186

9606:PRX
gene id: 9606:PRX
uniprot id: Q9BXM0
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: Secondary Structure
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: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
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: 33
up seq anno comments: 34
up seq anno comments: 35
up seq anno comments: 36
up seq anno comments: 37
up seq anno comments: 38
up seq anno comments: 39
up seq anno comments: 4
up seq anno comments: 40
up seq anno comments: 41
up seq anno comments: 42
up seq anno comments: 43
up seq anno comments: 44
up seq anno comments: 45
up seq anno comments: 46
up seq anno comments: 47
up seq anno comments: 48
up seq anno comments: 49
up seq anno comments: 5
up seq anno comments: 50
up seq anno comments: 51
up seq anno comments: 52
up seq anno comments: 53
up seq anno comments: 54
up seq anno comments: 55
up seq anno comments: 6
up seq anno comments: 7
up seq anno comments: 8
up seq anno comments: 9
up seq anno comments: Acidic residues
up seq anno comments: Found in a patient with a complex hereditary motor and sensory neuropathy form associated with dysarthria, joints hypermobility and cerebellar signs; unknown pathological significance.
up seq anno comments: In CMT4F.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Nearly abolishes export from the nucleus.

9606:MAGEA2
gene id: 9606:MAGEA2
uniprot id: A0A024RC17
uniprot id: P43356
uniprot id: Q6P448
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 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 comments: Improves ability to bind to HLA-A1.
up seq anno comments: MAGE
up seq anno comments: Melanoma-associated antigen 2
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000156702

9606:PNO1
gene id: 9606:PNO1
uniprot id: Q9NRX1
up 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 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: KH
up seq anno comments: N-acetylmethionine
up seq anno comments: RNA-binding protein PNO1
up seq anno feature ids: PRO_0000270540
up seq anno feature ids: VAR_029814
up seq anno feature ids: VAR_029815

9606:FARP1
gene id: 9606:FARP1
uniprot id: A0A2X0TVY0
uniprot id: C9JME2
uniprot id: Q9Y4F1
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: DH
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:FCHSD2
gene id: 9606:FCHSD2
uniprot id: O94868
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: 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: Mutagenesis Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes interaction with ITSN1 and location at clathrin-coated pits; when associated with S-576.
up seq anno comments: Abolishes interaction with ITSN1 and location at clathrin-coated pits; when associated with S-607.
up seq anno comments: Abolishes interaction with ITSN1.
up seq anno comments: F-BAR
up seq anno comments: F-BAR and double SH3 domains protein 2
up seq anno comments: Impaired recruitment to the cell membrane.
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: Increased recruitment to the cell membrane.
up seq anno comments: Loss of ability to promote actin polymerization; when associated with A-478.
up seq anno comments: Loss of ability to promote actin polymerization; when associated with A-480.
up seq anno comments: Loss of ability to promote actin polymerization; when associated with A-521.
up seq anno comments: Loss of ability to promote actin polymerization; when associated with A-524.
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 feature ids: PRO_0000278214
up seq anno feature ids: VSP_023167
up seq anno feature ids: VSP_023168
up seq anno feature ids: VSP_023169

9606:SOX9
gene id: 9606:SOX9
uniprot id: P48436
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: Secondary Structure
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: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno comments: 9aaTAD 1
up seq anno comments: 9aaTAD 2
up seq anno comments: 9aaTAD 3
up seq anno comments: Basic and acidic residues
up seq anno comments: Does not affect ability to activate transcription in vitro.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: HMG box
up seq anno comments: Impaired ability to activate transcription in vitro.
up seq anno comments: Impaired, but not abolished, ability to activate transcription in vitro.
up seq anno comments: In CMD1.
up seq anno comments: In CMD1; 17% of wild-type DNA binding activity; shows a 2-fold reduction in nuclear import efficiency; transcriptional activation is only reduced to 62% of wild-type activity.
up seq anno comments: In CMD1; 5% of wild-type DNA binding activity; transcriptional activation is only reduced to 26% of wild-type activity.
up seq anno comments: In CMD1; almost no loss of DNA binding.
up seq anno comments: In CMD1; decreased 75% transactivational activity.
up seq anno comments: In CMD1; dimerization and the resulting capacity to activate promoters via dimeric binding sites is lost; other features of the protein function remain unaltered.
up seq anno comments: In CMD1; loss of DNA binding.
up seq anno comments: In CMD1; mild form overlapping with small patella syndrome; decreased 50% transactivational activity.
up seq anno comments: In CMD1; residual DNA binding and transactivation of regulated genes.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Transcription factor SOX-9
up seq anno feature ids: PRO_0000048739
up seq anno feature ids: VAR_003735
up seq anno feature ids: VAR_003736
up seq anno feature ids: VAR_003737
up seq anno feature ids: VAR_003738
up seq anno feature ids: VAR_003739
up seq anno feature ids: VAR_003740
up seq anno feature ids: VAR_003741
up seq anno feature ids: VAR_003742
up seq anno feature ids: VAR_008529
up seq anno feature ids: VAR_008530
up seq anno feature ids: VAR_008531
up seq anno feature ids: VAR_063642
up seq anno feature ids: VAR_063643
up seq anno feature ids: VAR_063644
up seq anno feature ids: VAR_063645
up seq anno feature ids: VAR_063646
up seq anno feature ids: VAR_063647
up seq anno feature ids: VAR_078490
up seq anno feature ids: VAR_078491
up seq anno feature ids: VAR_078492
up seq anno feature ids: VAR_083521

9606:PHYHD1
gene id: 9606:PHYHD1
uniprot id: A0A024R893
uniprot id: Q5SRE7
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: Secondary Structure
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: 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: Phosphothreonine
up seq anno comments: Phytanoyl-CoA dioxygenase domain-containing protein 1
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000313633
up seq anno feature ids: VAR_050529
up seq anno feature ids: VSP_030077
up seq anno feature ids: VSP_030078

9606:FBXO46
gene id: 9606:FBXO46
uniprot id: Q6PJ61
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: Modified Residue
up seq anno comments: Basic and acidic residues
up seq anno comments: F-box
up seq anno comments: F-box only protein 46
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000119950

9606:CAMK2G
gene id: 9606:CAMK2G
uniprot id: A0A2Q3DQE3
uniprot id: B3KY86
uniprot id: Q13280
uniprot id: Q13555
uniprot id: Q5SWX3
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: Secondary Structure
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: 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: Basic and acidic residues
up seq anno comments: CaMKII_AD
up seq anno comments: Calcium/calmodulin-dependent protein kinase type II subunit gamma
up seq anno comments: In MRD59; gain-of-function variant affecting regulation of neurite formation and arborization; results in constitutive autophosphorylation.
up seq anno comments: In isoform 11.
up seq anno comments: In isoform 2, isoform 8, isoform 9 and isoform 11.
up seq anno comments: In isoform 3, isoform 7 and isoform 10.
up seq anno comments: In isoform 4, isoform 5 and isoform 10.
up seq anno comments: In isoform 5 and isoform 6.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6, isoform 7, isoform 8 and isoform 9.
up seq anno comments: In isoform 9.
up seq anno comments: Phosphoserine
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 feature ids: PRO_0000086101
up seq anno feature ids: VAR_042430
up seq anno feature ids: VAR_069390
up seq anno feature ids: VSP_004778
up seq anno feature ids: VSP_013349
up seq anno feature ids: VSP_013350
up seq anno feature ids: VSP_032699
up seq anno feature ids: VSP_032700
up seq anno feature ids: VSP_035456
up seq anno feature ids: VSP_036027
up seq anno feature ids: VSP_059393
up seq anno feature ids: VSP_059394

9606:CHMP7
gene id: 9606:CHMP7
uniprot id: B3KMN6
uniprot id: B3KRZ9
uniprot id: B3KUH0
uniprot id: Q8WUX9
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 labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Modified Residue
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: 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:TIMM44
gene id: 9606:TIMM44
uniprot id: O43615
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: Secondary Structure
up seq anno parent labels: 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: Strand
up seq anno labels: Transit Peptide
up seq anno comments: Mitochondrial import inner membrane translocase subunit TIM44
up seq anno comments: Mitochondrion
up seq anno comments: N6-succinyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000034314

9606:FBXL5
gene id: 9606:FBXL5
uniprot id: Q9UKA1
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: 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: 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: Abolishes iron-binding and promotes its degradation.
up seq anno comments: F-box
up seq anno comments: F-box/LRR-repeat protein 5
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 feature ids: PRO_0000119845
up seq anno feature ids: VSP_008417

9606:NPIPA1
gene id: 9606:NPIPA1
uniprot id: Q9UND3
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Nuclear pore complex-interacting protein family member A1
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000076275
up seq anno feature ids: VAR_034141

9606:GSS
gene id: 9606:GSS
uniprot id: P48637
uniprot id: V9HWJ1
up 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: 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 labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: GSH_synthase
up seq anno comments: Glutathione synthetase
up seq anno comments: In GSS deficiency.
up seq anno comments: In GSS deficiency; 10-fold decreased glutathione synthase activity.
up seq anno comments: In GSS deficiency; 100-fold decreased glutathione synthase activity.
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_0000211260
up seq anno feature ids: VAR_003602
up seq anno feature ids: VAR_003603
up seq anno feature ids: VAR_003604
up seq anno feature ids: VAR_003605
up seq anno feature ids: VAR_003606
up seq anno feature ids: VAR_003607
up seq anno feature ids: VAR_003608
up seq anno feature ids: VAR_003609
up seq anno feature ids: VAR_003610
up seq anno feature ids: VAR_003611
up seq anno feature ids: VAR_003612
up seq anno feature ids: VAR_003613
up seq anno feature ids: VAR_003614
up seq anno feature ids: VAR_025047
up seq anno feature ids: VAR_025048
up seq anno feature ids: VAR_078567
up seq anno feature ids: VSP_047617

9606:ACTR10
gene id: 9606:ACTR10
uniprot id: Q9NZ32
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
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:CLTC
gene id: 9606:CLTC
uniprot id: A0A087WVQ6
uniprot id: Q00610
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: Secondary Structure
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: 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: CHCR
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 1
up seq anno comments: Clathrin-link
up seq anno comments: Disrupts spindle localization and interaction with TACC3.
up seq anno comments: Disrupts spindle localization.
up seq anno comments: Disrupts spindle localization; when associated with E-444, E-445, E-500 and E-506.
up seq anno comments: Disrupts spindle localization; when associated with E-444, E-445, E-500 and E-507.
up seq anno comments: Disrupts spindle localization; when associated with E-444, E-445, E-506 and E-507.
up seq anno comments: Disrupts spindle localization; when associated with E-444, E-500, E-506 and E-507.
up seq anno comments: Disrupts spindle localization; when associated with E-445, E-500 E-506 and E-507.
up seq anno comments: Disrupts spindle localization; when associated with E-481, E-487, E-500 and E-506.
up seq anno comments: Disrupts spindle localization; when associated with E-481, E-487, E-500 and E-507.
up seq anno comments: Disrupts spindle localization; when associated with E-481, E-487, E-506 and E-507.
up seq anno comments: Disrupts spindle localization; when associated with E-481, E-500, E-506 and E-507.
up seq anno comments: Disrupts spindle localization; when associated with E-487, E-500, E-506 and E-507.
up seq anno comments: In MRD56.
up seq anno comments: In MRD56; unknown pathological significance.
up seq anno comments: In isoform 2.
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: Removed
up seq anno feature ids: PRO_0000205778
up seq anno feature ids: VAR_080721
up seq anno feature ids: VAR_080722
up seq anno feature ids: VAR_080723
up seq anno feature ids: VAR_080724
up seq anno feature ids: VAR_080725
up seq anno feature ids: VAR_080726
up seq anno feature ids: VAR_080727
up seq anno feature ids: VAR_080728
up seq anno feature ids: VSP_011570
up seq anno feature ids: VSP_011571

9606:PRR13
gene id: 9606:PRR13
uniprot id: A0A024RB45
uniprot id: Q9NZ81
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Basic residues
up seq anno comments: In isoform 2.
up seq anno comments: Pro residues
up seq anno comments: Proline-rich protein 13
up seq anno feature ids: PRO_0000243946
up seq anno feature ids: VSP_024394

9606:ZFY
gene id: 9606:ZFY
uniprot id: P08048
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: Secondary Structure
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:MSRB3
gene id: 9606:MSRB3
uniprot id: Q8IXL7
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: Secondary Structure
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: 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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 30-fold reduction in activity.
up seq anno comments: 500-fold reduction in activity.
up seq anno comments: 7000-fold reduction in activity.
up seq anno comments: Endoplasmic reticulum retention signal
up seq anno comments: In DFNB74; abolishes zinc-binding and enzymatic activity.
up seq anno comments: In isoform 2.
up seq anno comments: Methionine-R-sulfoxide reductase B3
up seq anno comments: MsrB
up seq anno comments: N6-acetyllysine
up seq anno comments: Nucleophile
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000327240
up seq anno feature ids: VAR_064904
up seq anno feature ids: VSP_040883

9606:PASD1
gene id: 9606:PASD1
uniprot id: Q8IV76
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 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: 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: Circadian clock protein PASD1
up seq anno comments: In isoform 2.
up seq anno comments: PAS
up seq anno comments: Reduces inhibition of CLOCK-BMAL1 heterodimer activity; when associated with E-36.
up seq anno comments: Reduces inhibition of CLOCK-BMAL1 heterodimer activity; when associated with R-45.
up seq anno feature ids: PRO_0000299445
up seq anno feature ids: VAR_034819
up seq anno feature ids: VSP_027663
up seq anno feature ids: VSP_027664

9606:TNFRSF4
gene id: 9606:TNFRSF4
uniprot id: P43489
up 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 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: Repeat
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: In IMD16.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: TNFR-Cys 1
up seq anno comments: TNFR-Cys 2
up seq anno comments: TNFR-Cys 3; truncated
up seq anno comments: TNFR-Cys 4
up seq anno comments: Tumor necrosis factor receptor superfamily member 4
up seq anno feature ids: PRO_0000034554
up seq anno feature ids: VAR_025164
up seq anno feature ids: VAR_070942

9606:PAQR5
gene id: 9606:PAQR5
uniprot id: A0A024R607
uniprot id: Q9NXK6
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 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: 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: Membrane progestin receptor gamma
up seq anno feature ids: PRO_0000218843
up seq anno feature ids: VAR_031436

9606:GNPNAT1
gene id: 9606:GNPNAT1
uniprot id: A0A024R649
uniprot id: Q96EK6
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: 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 Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Glucosamine 6-phosphate N-acetyltransferase
up seq anno comments: In RHZDAN.
up seq anno comments: N-acetyltransferase
up seq anno comments: Reduces affinity for glucosamine-6-phosphate 6-fold.
up seq anno comments: Slightly reduced catalytic activity.
up seq anno feature ids: PRO_0000074553
up seq anno feature ids: VAR_086302

9606:SH2D1B
gene id: 9606:SH2D1B
uniprot id: O14796
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: Secondary Structure
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: Splice Variant
up seq anno labels: Strand
up seq anno comments: In isoform 2.
up seq anno comments: No stimulation of granule polarization during NK-mediated cytotoxicity, abolishes activation of CD244/2B4-mediated cytotoxicity, abolishes augmentation of CD244/2B4-triggered PLCG1 phosphorylation and ERK activation.
up seq anno comments: Phosphotyrosine
up seq anno comments: SH2
up seq anno comments: SH2 domain-containing protein 1B
up seq anno feature ids: PRO_0000097724
up seq anno feature ids: VAR_051347
up seq anno feature ids: VAR_051348
up seq anno feature ids: VSP_010341

9606:MFSD13A
gene id: 9606:MFSD13A
uniprot id: Q14CX5
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
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:AP1M1
gene id: 9606:AP1M1
uniprot id: A0A024R7K8
uniprot id: B3KNH5
uniprot id: Q59EK3
uniprot id: Q9BXS5
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 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 Variant
up seq anno labels: Splice Variant
up seq anno comments: AP-1 complex subunit mu-1
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: MHD
up seq anno comments: N-acetylserine
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000193770
up seq anno feature ids: VAR_036536
up seq anno feature ids: VSP_042542

9606:GABARAP
gene id: 9606:GABARAP
uniprot id: O95166
uniprot id: Q6IAW1
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: Secondary Structure
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: Strand
up seq anno comments: Gamma-aminobutyric acid receptor-associated protein
up seq anno comments: Impairs localization at the autophagosomal membrane.
up seq anno comments: Inhibits interaction with TECPR2.
up seq anno comments: No effect on WDFY3-binding. Impaired WDFY3-binding, but no effect on SQSTM1-binding; when associated with H-25 and H-54.
up seq anno comments: No effect on WDFY3-binding. Impaired WDFY3-binding, but no effect on SQSTM1-binding; when associated with Q-24 and H-25.
up seq anno comments: No effect on WDFY3-binding. Impaired WDFY3-binding, but no effect on SQSTM1-binding; when associated with Q-24 and H-54.
up seq anno comments: No effect on interaction with TECPR2.
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_0000212363
up seq anno feature ids: PRO_0000423065

9606:ANXA10
gene id: 9606:ANXA10
uniprot id: Q9UJ72
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 labels: Chain
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence 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 A10
up seq anno feature ids: PRO_0000067507
up seq anno feature ids: VAR_030786

9606:KRT5
gene id: 9606:KRT5
uniprot id: P13647
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: Secondary Structure
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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Found in a patient with epidermolysis bullosa simplex with unspecified subtype; unknown pathological significance.
up seq anno comments: IF rod
up seq anno comments: In DDD1.
up seq anno comments: In DDD1; unknown pathological significance.
up seq anno comments: In EBS2A and EBS2C.
up seq anno comments: In EBS2A.
up seq anno comments: In EBS2A; unknown pathological significance.
up seq anno comments: In EBS2A; unknown pathological significance; dbSNP:.
up seq anno comments: In EBS2A; with laryngeal involvement.
up seq anno comments: In EBS2A;.
up seq anno comments: In EBS2B and EBS2A; unknown pathological significance.
up seq anno comments: In EBS2B.
up seq anno comments: In EBS2B; unknown pathological significance.
up seq anno comments: In EBS2C and EBS2B; unknown pathological significance.
up seq anno comments: In EBS2C and in a patient with epidermolysis bullosa simplex with unspecified subtype; unknown pathological significance; requires 2 nucleotide substitutions.
up seq anno comments: In EBS2C, EBS2B and EBS2D.
up seq anno comments: In EBS2C.
up seq anno comments: In EBS2C; unknown pathological significance.
up seq anno comments: In EBS2D.
up seq anno comments: In EBS2D; unknown pathological significance.
up seq anno comments: In EBS2F.
up seq anno comments: Increase in keratin-positive aggregates and keratin intermediate filament networks that are very thin and sparse with short filaments.
up seq anno comments: Keratin, type II cytoskeletal 5
up seq anno comments: No effect on interaction with KRT14 or keratin intermediate filament networks.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine; by CDK1
up seq anno comments: Polar residues
up seq anno comments: Probable disease-associated variant found in a patient with EBS with an unspecified subtype.
up seq anno feature ids: PRO_0000063727
up seq anno feature ids: VAR_003871
up seq anno feature ids: VAR_003872
up seq anno feature ids: VAR_003873
up seq anno feature ids: VAR_003874
up seq anno feature ids: VAR_003875
up seq anno feature ids: VAR_003876
up seq anno feature ids: VAR_003877
up seq anno feature ids: VAR_010453
up seq anno feature ids: VAR_010454
up seq anno feature ids: VAR_010455
up seq anno feature ids: VAR_010456
up seq anno feature ids: VAR_010457
up seq anno feature ids: VAR_010458
up seq anno feature ids: VAR_010459
up seq anno feature ids: VAR_010460
up seq anno feature ids: VAR_010461
up seq anno feature ids: VAR_010462
up seq anno feature ids: VAR_010463
up seq anno feature ids: VAR_010464
up seq anno feature ids: VAR_010465
up seq anno feature ids: VAR_010466
up seq anno feature ids: VAR_010467
up seq anno feature ids: VAR_013829
up seq anno feature ids: VAR_023726
up seq anno feature ids: VAR_023727
up seq anno feature ids: VAR_023728
up seq anno feature ids: VAR_026536
up seq anno feature ids: VAR_026537
up seq anno feature ids: VAR_026538
up seq anno feature ids: VAR_026539
up seq anno feature ids: VAR_026540
up seq anno feature ids: VAR_026541
up seq anno feature ids: VAR_026542
up seq anno feature ids: VAR_026543
up seq anno feature ids: VAR_027722

9606:SPATS1
gene id: 9606:SPATS1
uniprot id: Q496A3
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Spermatogenesis-associated serine-rich protein 1
up seq anno feature ids: PRO_0000307694
up seq anno feature ids: VAR_036631
up seq anno feature ids: VSP_028787

9606:NPIPB13
gene id: 9606:NPIPB13
uniprot id: A6NJU9
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: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Helical
up seq anno comments: Nuclear pore complex-interacting protein family member B13
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000343665

9606:C16orf90
gene id: 9606:C16orf90
uniprot id: A8MZG2
up seq anno parent labels: Experimental Information
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: Sequence Conflict
up seq anno comments: Polar residues
up seq anno comments: Uncharacterized protein C16orf90
up seq anno feature ids: PRO_0000343581

9606:HNRNPH3
gene id: 9606:HNRNPH3
uniprot id: A0A024QZK8
uniprot id: A0A024QZP1
uniprot id: B4DHY1
uniprot id: P31942
uniprot id: Q53F48
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 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:CFAP45
gene id: 9606:CFAP45
uniprot id: Q9UL16
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: 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: 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:PTBP2
gene id: 9606:PTBP2
uniprot id: A0A6Q8PFE6
uniprot id: A0A7I2RVZ4
uniprot id: B4DSS8
uniprot id: B4DSU5
uniprot id: Q9UKA9
up 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 labels: Chain
up seq anno labels: Domain Extent
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 labels: Turn
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3, isoform 4 and isoform 6.
up seq anno comments: In isoform 5 and isoform 6.
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno comments: Polypyrimidine tract-binding protein 2
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: RRM 4
up seq anno feature ids: PRO_0000232928
up seq anno feature ids: VSP_018015
up seq anno feature ids: VSP_018016
up seq anno feature ids: VSP_018017
up seq anno feature ids: VSP_018018

9606:METTL25
gene id: 9606:METTL25
uniprot id: Q8N6Q8
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Probable methyltransferase-like protein 25
up seq anno feature ids: PRO_0000252148
up seq anno feature ids: VAR_027779

9606:SLC6A16
gene id: 9606:SLC6A16
uniprot id: Q9GZN6
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 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:WASHC5
gene id: 9606:WASHC5
uniprot id: Q12768
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 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 SPG8.
up seq anno comments: In SPG8; does not alter subcellular distribution; no effect on its binding to VCP; no effect on assembly in the WASH complex.
up seq anno comments: In SPG8; dopamine responsive spasticity.
up seq anno comments: In SPG8; fails to rescue the curly phenotype in a zebrafish model; no effect on assembly in the WASH complex.
up seq anno comments: Phosphoserine
up seq anno comments: WASH complex subunit 5
up seq anno feature ids: PRO_0000050733
up seq anno feature ids: VAR_031955
up seq anno feature ids: VAR_031956
up seq anno feature ids: VAR_031957
up seq anno feature ids: VAR_069984
up seq anno feature ids: VAR_069985
up seq anno feature ids: VAR_072417

9606:SFTPD
gene id: 9606:SFTPD
uniprot id: P35247
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: Secondary Structure
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: 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: Turn
up seq anno comments: 4-hydroxyproline
up seq anno comments: 5-hydroxylysine
up seq anno comments: Basic and acidic residues
up seq anno comments: C-type lectin
up seq anno comments: Collagen-like
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Pro residues
up seq anno comments: Pulmonary surfactant-associated protein D
up seq anno comments: S-nitrosocysteine
up seq anno feature ids: PRO_0000017465
up seq anno feature ids: VAR_020937
up seq anno feature ids: VAR_020938
up seq anno feature ids: VAR_020939
up seq anno feature ids: VAR_020940
up seq anno feature ids: VAR_020941

9606:CST6
gene id: 9606:CST6
uniprot id: Q15828
up 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 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: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Cystatin-M
up seq anno comments: In ECTD15; loss of cystein protease inhibitory activity toward cathepsin L, cathepsin V and legumain.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Secondary area of contact
up seq anno feature ids: PRO_0000006648
up seq anno feature ids: VAR_083237

9606:PIK3CG
gene id: 9606:PIK3CG
uniprot id: A0A024R720
uniprot id: A8K9G9
uniprot id: P48736
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: Secondary Structure
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: 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: Abolishes protein and lipid kinase activity. Does not abolishes interaction with GRK2.
up seq anno comments: C2 PI3K-type
up seq anno comments: In IMD97; loss of phosphatidylinositol-3,4-bisphosphate 5-kinase activity.
up seq anno comments: In IMD97; loss-of-function variant unable to rescue reduced T-cell activation when expressed in Jurkat PIK3CG-deficient cells.
up seq anno comments: Loss of autophosphorylation. No effect on phosphatidylinositol-4,5-bisphosphate 3-kinase activity.
up seq anno comments: Loss of kinase activity. Loss of autophosphorylation. Reduced inflammatory reactions but no alterations in cardiac contractility.
up seq anno comments: PI3K-ABD
up seq anno comments: PI3K-RBD
up seq anno comments: PI3K/PI4K catalytic
up seq anno comments: PIK helical
up seq anno comments: Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform
up seq anno comments: Phosphoserine; by autocatalysis
up seq anno comments: Phosphothreonine; by PKA
up seq anno feature ids: PRO_0000088792
up seq anno feature ids: VAR_087092
up seq anno feature ids: VAR_087093
up seq anno feature ids: VAR_087094

9606:OXTR
gene id: 9606:OXTR
uniprot id: B2R9L7
uniprot id: P30559
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: Secondary Structure
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: 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: G_PROTEIN_RECEP_F1_2
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: Oxytocin receptor
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000069998
up seq anno feature ids: VAR_031570
up seq anno feature ids: VAR_031571

9606:KRT81
gene id: 9606:KRT81
uniprot id: Q14533
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 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 comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)
up seq anno comments: IF rod
up seq anno comments: In MNLIX.
up seq anno comments: Keratin, type II cuticular Hb1
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:METTL14
gene id: 9606:METTL14
uniprot id: Q9HCE5
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 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: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Decreased methyltransferase activity of the heterodimer complex formed with METTL3.
up seq anno comments: Does not affect interaction with METTL3.
up seq anno comments: Does not affect methyltransferase activity of the heterodimer complex formed with METTL3.
up seq anno comments: Does not affect nuclear localization.
up seq anno comments: Little or no effect on S-adenosyl-L-methionine-binding or methyltransferase activity; when associated with A-192.
up seq anno comments: Little or no effect on methyltransferase activity of the heterodimer complex formed with METTL3.
up seq anno comments: Little or no effect on methyltransferase activity. Little or no effect on S-adenosyl-L-methionine-binding or methyltransferase activity; when associated with A-173.
up seq anno comments: N6-adenosine-methyltransferase non-catalytic subunit
up seq anno comments: Phosphoserine
up seq anno comments: Reduced RNA-binding.
up seq anno comments: Reduced RNA-binding. Reduced RNA-binding; when associated with E-255.
up seq anno comments: Reduced RNA-binding; when associated with E-245.
up seq anno comments: Strongly decreased methyltransferase activity of the heterodimer complex formed with METTL3, probably due to reduced RNA-binding.
up seq anno comments: Strongly reduced methyltransferase activity of the heterodimer complex formed with METTL3.
up seq anno feature ids: PRO_0000325790

9606:EEF2KMT
gene id: 9606:EEF2KMT
uniprot id: K7ES84
uniprot id: Q96G04
up 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: 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 labels: Splice Variant
up seq anno comments: FAM86
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylmethionine
up seq anno comments: Protein-lysine N-methyltransferase EEF2KMT
up seq anno feature ids: PRO_0000076218
up seq anno feature ids: VAR_033854
up seq anno feature ids: VAR_060160
up seq anno feature ids: VAR_067704
up seq anno feature ids: VAR_067705
up seq anno feature ids: VAR_067706
up seq anno feature ids: VSP_017097

9606:HNF4A
gene id: 9606:HNF4A
uniprot id: A0A087WXV4
uniprot id: B9VVT8
uniprot id: F1D8S2
uniprot id: F1D8T0
uniprot id: F1D8T1
uniprot id: P41235
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: Secondary Structure
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: 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 labels: Zinc Finger
up seq anno comments: 9aaTAD
up seq anno comments: Abolishes AMPK-mediated phosphorylation.
up seq anno comments: Found in a patient with non-insulin-dependent diabetes mellitus; does not affect activity.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Hepatocyte nuclear factor 4-alpha
up seq anno comments: In FRTS4.
up seq anno comments: In MODY1.
up seq anno comments: In MODY1; results in loss of function.
up seq anno comments: In NIDDM; reduced transactivation activity.
up seq anno comments: In isoform HNF4-Alpha-2 and isoform HNF4-Alpha-8.
up seq anno comments: In isoform HNF4-Alpha-3 and isoform HNF4-Alpha-9.
up seq anno comments: In isoform HNF4-Alpha-4.
up seq anno comments: In isoform HNF4-Alpha-7, isoform HNF4-Alpha-8 and isoform HNF4-Alpha-9.
up seq anno comments: N6-acetyllysine
up seq anno comments: NR C4-type
up seq anno comments: NR LBD
up seq anno comments: Nuclear receptor
up seq anno comments: Phosphomimetic mutant that leads to reduced ability to bind DNA.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by AMPK
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000053558
up seq anno feature ids: VAR_004668
up seq anno feature ids: VAR_004669
up seq anno feature ids: VAR_004670
up seq anno feature ids: VAR_010600
up seq anno feature ids: VAR_010601
up seq anno feature ids: VAR_011785
up seq anno feature ids: VAR_062267
up seq anno feature ids: VAR_071951
up seq anno feature ids: VAR_071952
up seq anno feature ids: VSP_003673
up seq anno feature ids: VSP_003674
up seq anno feature ids: VSP_003675
up seq anno feature ids: VSP_026030

9606:CELA3B
gene id: 9606:CELA3B
uniprot id: P08861
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: 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: Glycosylation 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 comments: Activation peptide
up seq anno comments: Charge relay system
up seq anno comments: Chymotrypsin-like elastase family member 3B
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Or 16
up seq anno comments: Peptidase S1
up seq anno feature ids: CAR_000212
up seq anno feature ids: PRO_0000027699
up seq anno feature ids: PRO_0000027700
up seq anno feature ids: VAR_025446

9606:SSTR2
gene id: 9606:SSTR2
uniprot id: P30874
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: Secondary Structure
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: 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: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Almost abolishes expression. Abolishes membrane localization.
up seq anno comments: Cytoplasmic
up seq anno comments: Expression levels reduced by 40%. No significant change in ligand binding capacity or affinity. Reduced G protein-mediated cAMP signaling but no effect on G protein-mediated calcium release.
up seq anno comments: Expression levels reduced by 50%. Significantly reduced ligand binding capacity but increased affinity. Reduced G protein-mediated cAMP release but no effect on G-protein mediated calcium release.
up seq anno comments: Expression levels reduced by 60%.
up seq anno comments: Expression levels reduced by 80%.
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 comments: S-palmitoyl cysteine
up seq anno comments: Slightly reduced expression levels. No significant change in ligand binding capacity or affinity. No significant change in G protein-mediated cAMP or calcium release.
up seq anno comments: Slightly reduced expression levels. Remains localized in membrane. Abolishes ligand binding and G protein-mediated calcium release.
up seq anno comments: Slightly reduced expression levels. Significantly reduced ligand binding capacity but increased affinity. Reduced G protein-mediated cAMP release but no effect on G protein-mediated calcium release.
up seq anno comments: Somatostatin receptor type 2
up seq anno feature ids: PRO_0000070120
up seq anno feature ids: VSP_001922

9606:NRK
gene id: 9606:NRK
uniprot id: Q7Z2Y5
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: 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: 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: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: CNH
up seq anno comments: In a breast infiltrating ductal carcinoma sample; somatic mutation.
up seq anno comments: In a colorectal adenocarcinoma sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Nik-related protein kinase
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_0000250511
up seq anno feature ids: VAR_033908
up seq anno feature ids: VAR_033909
up seq anno feature ids: VAR_040951
up seq anno feature ids: VAR_040952
up seq anno feature ids: VAR_040953
up seq anno feature ids: VAR_040954
up seq anno feature ids: VAR_040955
up seq anno feature ids: VAR_040956
up seq anno feature ids: VAR_040957
up seq anno feature ids: VAR_040958
up seq anno feature ids: VAR_040959
up seq anno feature ids: VAR_040960
up seq anno feature ids: VAR_040961
up seq anno feature ids: VAR_040962
up seq anno feature ids: VAR_051653
up seq anno feature ids: VSP_020654
up seq anno feature ids: VSP_020655
up seq anno feature ids: VSP_020656
up seq anno feature ids: VSP_020657

9606:PLXNB2
gene id: 9606:PLXNB2
uniprot id: O15031
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: Secondary Structure
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: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Abolishes cleavage by proprotein convertases.
up seq anno comments: Cytoplasmic
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: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Plexin-B2
up seq anno comments: Sema
up seq anno feature ids: PRO_0000024673
up seq anno feature ids: VAR_050600
up seq anno feature ids: VAR_061537

9606:E2F2
gene id: 9606:E2F2
uniprot id: Q14209
up 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 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: Sequence Variant
up seq anno comments: DEF box
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Transcription factor E2F2
up seq anno feature ids: PRO_0000219464
up seq anno feature ids: VAR_018990
up seq anno feature ids: VAR_018991

9606:PYCR3
gene id: 9606:PYCR3
uniprot id: A0A0A0MQS1
uniprot id: B4DGI7
uniprot id: Q53H96
up 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 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 Variant
up seq anno labels: Splice Variant
up seq anno comments: F420_oxidored
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylalanine
up seq anno comments: P5CR_dimer
up seq anno comments: Pyrroline-5-carboxylate reductase 3
up seq anno comments: Removed
up seq anno feature ids: PRO_0000324561
up seq anno feature ids: VAR_039828
up seq anno feature ids: VAR_039829
up seq anno feature ids: VAR_039830
up seq anno feature ids: VSP_057219

9606:MCEMP1
gene id: 9606:MCEMP1
uniprot id: A0A384NYE9
uniprot id: Q8IX19
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: 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:CNOT4
gene id: 9606:CNOT4
uniprot id: A0A024R776
uniprot id: A0A024R781
uniprot id: A0A024R785
uniprot id: O95628
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: 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: Mutagenesis Site
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 E2 ubiquitin ligases.
up seq anno comments: Asymmetric dimethylarginine
up seq anno comments: C3H1-type
up seq anno comments: CCR4-NOT transcription complex subunit 4
up seq anno comments: In isoform 2, isoform 8 and isoform 9.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4 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 9 and isoform 10.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: RING-type
up seq anno comments: RING-type; degenerate
up seq anno comments: RRM
up seq anno comments: Strongly reduced interaction with UBE2D2.
up seq anno comments: Strongly reduces interaction with E2 ubiquitin ligases.
up seq anno feature ids: PRO_0000081679
up seq anno feature ids: VAR_027833
up seq anno feature ids: VSP_009923
up seq anno feature ids: VSP_009924
up seq anno feature ids: VSP_009925
up seq anno feature ids: VSP_009926
up seq anno feature ids: VSP_009927
up seq anno feature ids: VSP_009928
up seq anno feature ids: VSP_009929
up seq anno feature ids: VSP_045469

9606:RHOXF2
gene id: 9606:RHOXF2
uniprot id: Q9BQY4
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Motif
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Found in infertile men; unknown pathological significance.
up seq anno comments: Found in infertile men; unknown pathological significance; decreased induction of target genes expression.
up seq anno comments: Homeobox
up seq anno comments: Nuclear localization signal
up seq anno comments: Rhox homeobox family member 2
up seq anno feature ids: PRO_0000049246
up seq anno feature ids: VAR_078297
up seq anno feature ids: VAR_078298
up seq anno feature ids: VAR_078299
up seq anno feature ids: VAR_078300

9606:MTMR4
gene id: 9606:MTMR4
uniprot id: Q9NYA4
up 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: 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: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: FYVE-type
up seq anno comments: Myotubularin phosphatase
up seq anno comments: Myotubularin-related protein 4
up seq anno comments: Phosphocysteine intermediate
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000304809
up seq anno feature ids: VAR_035110
up seq anno feature ids: VAR_035111
up seq anno feature ids: VAR_035112

9606:GPR75
gene id: 9606:GPR75
uniprot id: O95800
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 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: Found in a patient with age-related macular degeneration; unknown pathological significance.
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 75
up seq anno feature ids: PRO_0000069583
up seq anno feature ids: VAR_033471
up seq anno feature ids: VAR_033472
up seq anno feature ids: VAR_033473
up seq anno feature ids: VAR_071258
up seq anno feature ids: VAR_071259
up seq anno feature ids: VAR_071260
up seq anno feature ids: VAR_071261

9606:GNA15
gene id: 9606:GNA15
uniprot id: P30679
up 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: 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: ADP-ribosylarginine; by cholera toxin
up seq anno comments: G-alpha
up seq anno comments: Guanine nucleotide-binding protein subunit alpha-15
up seq anno feature ids: PRO_0000203755
up seq anno feature ids: VAR_028000

9606:TMEM129
gene id: 9606:TMEM129
uniprot id: A0AVI4
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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: Transmembrane
up seq anno labels: Zinc Finger
up seq anno comments: Cytoplasmic
up seq anno comments: E3 ubiquitin-protein ligase TM129
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Lumenal
up seq anno comments: RING-type; degenerate
up seq anno feature ids: PRO_0000291041
up seq anno feature ids: VAR_032803
up seq anno feature ids: VSP_036641
up seq anno feature ids: VSP_036642

9606:AGER
gene id: 9606:AGER
uniprot id: A0A1U9X785
uniprot id: B4DNX3
uniprot id: Q15109
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: Secondary Structure
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: 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: Advanced glycosylation end product-specific receptor
up seq anno comments: Basic and acidic residues
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 10.
up seq anno comments: In isoform 2 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 and isoform 6.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 8.
up seq anno comments: In isoform 9.
up seq anno comments: Interchain
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000014923
up seq anno feature ids: PRO_5014275534
up seq anno feature ids: VAR_011338
up seq anno feature ids: VAR_024500
up seq anno feature ids: VSP_002551
up seq anno feature ids: VSP_002552
up seq anno feature ids: VSP_042011
up seq anno feature ids: VSP_043528
up seq anno feature ids: VSP_047884
up seq anno feature ids: VSP_047885
up seq anno feature ids: VSP_047886
up seq anno feature ids: VSP_047887
up seq anno feature ids: VSP_047888
up seq anno feature ids: VSP_047889
up seq anno feature ids: VSP_055321

9606:ZBTB24
gene id: 9606:ZBTB24
uniprot id: O43167
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 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: 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: 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:ZFAND3
gene id: 9606:ZFAND3
uniprot id: A0A024RD12
uniprot id: E2QRF5
uniprot id: Q9H8U3
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 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: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: A20-type
up seq anno comments: AN1-type
up seq anno comments: AN1-type zinc finger protein 3
up seq anno comments: Basic and acidic residues
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000076370

9606:PLEKHG5
gene id: 9606:PLEKHG5
uniprot id: A0A804EMX3
uniprot id: O94827
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Acidic residues
up seq anno comments: DH
up seq anno comments: In CMTRIC; in vitro assay suggests a defect in activating the NF-kappa-B signaling pathway.
up seq anno comments: In DSMA4; stability and intracellular location affected severely impairing the NF-kappa-B transduction pathway.
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: Pleckstrin homology domain-containing family G member 5
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000307134
up seq anno feature ids: VAR_035357
up seq anno feature ids: VAR_070217
up seq anno feature ids: VAR_070218
up seq anno feature ids: VSP_060959
up seq anno feature ids: VSP_060960
up seq anno feature ids: VSP_060961
up seq anno feature ids: VSP_060962

9606:AKR7A2
gene id: 9606:AKR7A2
uniprot id: B4DZX4
uniprot id: O43488
uniprot id: V9HWA2
up 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: 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: 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 labels: Turn
up seq anno comments: Aflatoxin B1 aldehyde reductase member 2
up seq anno comments: Aldo_ket_red
up seq anno comments: Mitochondrion
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-succinyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Proton donor
up seq anno feature ids: PRO_0000070375
up seq anno feature ids: VAR_017413
up seq anno feature ids: VAR_017414
up seq anno feature ids: VAR_017415
up seq anno feature ids: VAR_048209
up seq anno feature ids: VAR_048210
up seq anno feature ids: VAR_048211
up seq anno feature ids: VAR_060222

9606:OPN1MW3
gene id: 9606:OPN1MW3
uniprot id: P04001
uniprot id: P0DN77
uniprot id: P0DN78
up 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 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 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 CBD and BCM.
up seq anno comments: In CBD.
up seq anno comments: In COD5; results in protein misfolding and retention in the endoplasmic reticulum.
up seq anno comments: Medium-wave-sensitive opsin 1
up seq anno comments: Medium-wave-sensitive opsin 2
up seq anno comments: Medium-wave-sensitive opsin 3
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: N6-(retinylidene)lysine
up seq anno feature ids: PRO_0000197785
up seq anno feature ids: PRO_0000435400
up seq anno feature ids: PRO_0000435401
up seq anno feature ids: VAR_004841
up seq anno feature ids: VAR_064051
up seq anno feature ids: VAR_064052
up seq anno feature ids: VAR_064053

9606:IKZF3
gene id: 9606:IKZF3
uniprot id: Q9UKT9
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
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: 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; atypical
up seq anno comments: C2H2-type 5
up seq anno comments: C2H2-type 6; atypical
up seq anno comments: Found in a renal cell carcinoma sample; somatic mutation.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In IMD84; no effect on homodimerization activity; no effect on heterodimerization activity; changed localization; changed DNA-binding transcription activator activity; changed sequence-specific DNA binding; binds novel and non-specific DNA motifs and acts as a dominant negative through its homodimerization and heterodimerization activities.
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 14 and isoform 15.
up seq anno comments: In isoform 14.
up seq anno comments: In isoform 16.
up seq anno comments: In isoform 2 and isoform 15.
up seq anno comments: In isoform 3 and isoform 8.
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 and isoform 8.
up seq anno comments: In isoform 9.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Zinc finger protein Aiolos
up seq anno feature ids: PRO_0000047090
up seq anno feature ids: VAR_064724
up seq anno feature ids: VAR_086041
up seq anno feature ids: VSP_006840
up seq anno feature ids: VSP_006841
up seq anno feature ids: VSP_006842
up seq anno feature ids: VSP_006843
up seq anno feature ids: VSP_006844
up seq anno feature ids: VSP_041274
up seq anno feature ids: VSP_041275
up seq anno feature ids: VSP_041276
up seq anno feature ids: VSP_041277
up seq anno feature ids: VSP_041278
up seq anno feature ids: VSP_041279
up seq anno feature ids: VSP_041280
up seq anno feature ids: VSP_041281
up seq anno feature ids: VSP_055353

9606:TAMALIN
gene id: 9606:TAMALIN
uniprot id: Q7Z6J2
up 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 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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: In isoform 2.
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: Phosphotyrosine
up seq anno comments: Pro residues
up seq anno comments: Protein TAMALIN
up seq anno feature ids: PRO_0000087584
up seq anno feature ids: VSP_015707
up seq anno feature ids: VSP_015708

9606:FAIM2
gene id: 9606:FAIM2
uniprot id: Q9BWQ8
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation 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: 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:HEATR4
gene id: 9606:HEATR4
uniprot id: Q86WZ0
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: HEAT 1
up seq anno comments: HEAT 2
up seq anno comments: HEAT 3
up seq anno comments: HEAT repeat-containing protein 4
up seq anno feature ids: PRO_0000254129
up seq anno feature ids: VAR_028817
up seq anno feature ids: VAR_028818
up seq anno feature ids: VAR_028819

9606:CD28
gene id: 9606:CD28
uniprot id: B4E0L1
uniprot id: P10747
up 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 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: 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 V-type
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: In isoform 7.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: T-cell-specific surface glycoprotein CD28
up seq anno feature ids: PRO_0000014652
up seq anno feature ids: PRO_5002803440
up seq anno feature ids: VSP_002494
up seq anno feature ids: VSP_002495
up seq anno feature ids: VSP_002496
up seq anno feature ids: VSP_002497
up seq anno feature ids: VSP_002498
up seq anno feature ids: VSP_002499
up seq anno feature ids: VSP_047701

9606:RNF128
gene id: 9606:RNF128
uniprot id: Q8TEB7
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: Secondary Structure
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: Sequence Conflict
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: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: E3 ubiquitin-protein ligase RNF128
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: PA
up seq anno comments: Polar residues
up seq anno comments: RING-type; atypical
up seq anno feature ids: PRO_0000261412
up seq anno feature ids: VSP_021685

9606:SCMH1
gene id: 9606:SCMH1
uniprot id: B3KMZ7
uniprot id: Q96GD3
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: In isoform 2, isoform 4, isoform 5 and isoform 6.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3 and isoform 5.
up seq anno comments: In isoform 4 and isoform 6.
up seq anno comments: In isoform 6.
up seq anno comments: MBT
up seq anno comments: MBT 1
up seq anno comments: MBT 2
up seq anno comments: Polar residues
up seq anno comments: Polycomb protein SCMH1
up seq anno comments: SAM
up seq anno feature ids: PRO_0000114334
up seq anno feature ids: VSP_043395
up seq anno feature ids: VSP_051676
up seq anno feature ids: VSP_051677
up seq anno feature ids: VSP_051678
up seq anno feature ids: VSP_051679

9606:IRX2
gene id: 9606:IRX2
uniprot id: Q9BZI1
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: DNA Binding
up seq anno labels: Modified Residue
up seq anno comments: Basic and acidic residues
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:SNAI1
gene id: 9606:SNAI1
uniprot id: O95863
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: Secondary Structure
up seq anno labels: Chain
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: 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 CK2 phosphorylation. Strongly decreases repressor activity on E-cadherin/CDH1 and CLDN1 promoters. Increases protein stability. Affects function in cell survival. Abolishes phosphorylation in the serine-rich region; when associated with A-104 and A-107.
up seq anno comments: Abolishes LATS2 phosphorylation. Does not affect binding to LATS2. Reduces protein stability. Equally distributed between nucleus and cytoplasm. Increases capacity to associate with nuclear pore importins. Unable to accumulate in the nucleus. Does not abrogate function.
up seq anno comments: Abolishes PKA phosphorylation. Strongly decreases repressor activity on E-cadherin/CDH1 and CLDN1 promoters. Increases protein stability. Affects function in EMT.
up seq anno comments: Abolishes binding to KPNB1, KPNA2, IPO7 and TNPO1 and nuclear localization.
up seq anno comments: Abolishes recognition and ubiquitination by BTRC which increases steady state level and half-life. Preferentially localizes to the nucleus. Induces a more aggressive tissue invasion program. Lower sensitivity to BTRC-triggered degradation, impairs phosphorylation by GSK3B and does not affect NOTCH1-induced degradation; when associated with A-100. Lower sensitivity to BTRC-triggered degradation, impaired phosphorylation by GSK3B and loss of cytoplasmic localization; when associated with A-100; A-107; A-111; A-115 and A-119.
up seq anno comments: Abolishes repressor activity on E-cadherin/CDH1 promoter and binding to KDM1A.
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: Decreases repression activity on E-cadherin/CDH1, occludin and aromatase promoters. Preferentially localizes to the cytoplasm. Abolishes phosphorylation by PAK1.
up seq anno comments: Destruction motif
up seq anno comments: Does not affect E-cadherin repression; when associated with R-9.
up seq anno comments: Does not affect E-cadherin/CDH1 repression; when associated with R-16.
up seq anno comments: Does not affect binding to KPNB1, KPNA2, IPO7 or TNPO1.
up seq anno comments: Does not affect binding to KPNB1, KPNA2, IPO7 or TNPO1. Impairs binding to KPNB1, KPNA2, IPO7 and TNPO1 and abolishes nuclear localization, DNA binding and repressor activity on E-cadherin/CDH1 promoter; when associated with E-191. Abolishes binding to KPNB1, KPNA2, IPO7 and TNPO1 and nuclear localization; when associated with E-161 and/or E-220.
up seq anno comments: Does not affect binding to KPNB1, KPNA2, IPO7 or TNPO1. No change in subcellular localization. Impairs binding to KPNB1, KPNA2, IPO7 and TNPO1 and abolishes nuclear localization, DNA binding and repressor activity on E-cadherin/CDH1 promoter; when associated with E-161.
up seq anno comments: Does not affect binding to KPNB1, KPNA2, IPO7 or TNPO1. No change in subcellular localization. Impairs binding to KPNB1, KPNA2, IPO7 and TNPO1 and abolishes nuclear localization, DNA binding and repressor activity on E-cadherin/CDH1 promoter; when associated with E-170. Abolishes binding to KPNB1, KPNA2, IPO7 and TNPO1 and nuclear localization; when associated with E-187 and/or E-220.
up seq anno comments: Does not affect binding to KPNB1, KPNA2, IPO7 or TNPO1. No change in subcellular localization. Impairs binding to KPNB1, KPNA2, IPO7 and TNPO1; when associated with E-220 and E-222. Impairs binding to KPNB1, KPNA2, IPO7 and TNPO1 and abolishes nuclear localization, DNA binding and repressor activity on E-cadherin/CDH1 promoter; when associated with E-220.
up seq anno comments: Does not affect binding to KPNB1, KPNA2, IPO7 or TNPO1. No change in subcellular localization. Impairs binding to KPNB1, KPNA2, IPO7 and TNPO1; when associated with E-220 and E-224.
up seq anno comments: Does not affect binding to KPNB1, KPNA2, IPO7 or TNPO1. No change in subcellular localization. Impairs binding to KPNB1, KPNA2, IPO7 and TNPO1; when associated with E-222 and E-224. Impairs binding to KPNB1, KPNA2, IPO7 and TNPO1 and abolishes nuclear localization, DNA binding and repressor activity on E-cadherin/CDH1 promoter; when associated with E-224. Abolishes binding to KPNB1, KPNA2, IPO7 and TNPO1 and nuclear localization; when associated with E-161 and/or E-187.
up seq anno comments: Does not affect binding to KPNB1, KPNA2, IPO7, TNPO1 or DNA.
up seq anno comments: Does not affect repressor activity on E-cadherin/CDH1 promoter.
up seq anno comments: Exclusively localizes to the cytoplasm. Reduces capacity to associate with nuclear pore importins. Unable to enter the nucleus. Does not abrogate function.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Impairs binding to KPNB1 and IPO7 and abolishes binding to KPNA2 and TNPO1 and nuclear localization.
up seq anno comments: Impairs binding to KPNB1, IPO7 and TNPO1 and abolishes binding to KPNA2. Localizes to cytoplasm and nucleus.
up seq anno comments: Impairs binding to KPNB1, KPNA2, IPO7 and TNPO1. No change in subcellular localization.
up seq anno comments: Increases protein stability, does not affect repressor activity on E-cadherin/CDH1 promoter, preferentially localizes to the nucleus, induces a more aggressive tissue invasion program and impairs phosphorylation by GSK3B, binding to BTRC and ubiquitination; when associated with A-107. Impairs phosphorylation in the serine-rich domain/region; when associated with A-92 and A-107. Abolishes phosphorylation at S-96.
up seq anno comments: Loss of binding to KPNB1 and nuclear import; when associated with E-191 and A-193.
up seq anno comments: Loss of interaction with KDM1A.
up seq anno comments: Lower sensitivity to BTRC-triggered degradation and impaired phosphorylation by GSK3B; when associated with A-96. Lower sensitivity to BTRC-triggered degradation, impaired phosphorylation by GSK3B and loss of cytoplasmic localization; when associated with A-96; A-107; A-111; A-115 and A-119. Does not affect NOTCH1-induced degradation; when associated with A-96. Abolishes phosphorylation at S-96.
up seq anno comments: Lower sensitivity to BTRC-triggered degradation, impaired phosphorylation by GSK3B and loss of cytoplasmic localization; when associated with A-107; A-111 and A-119. Lower sensitivity to BTRC-triggered degradation, impaired phosphorylation by GSK3B and loss of cytoplasmic localization; when associated with A-96; A-100; A-107; A-111 and A-115.
up seq anno comments: Lower sensitivity to BTRC-triggered degradation, impaired phosphorylation by GSK3B and loss of cytoplasmic localization; when associated with A-107; A-111 and A-119. Lower sensitivity to BTRC-triggered degradation, impaired phosphorylation by GSK3B and loss of cytoplasmic localization; when associated with A-96; A-100; A-107; A-111 and A-119.
up seq anno comments: Lower sensitivity to BTRC-triggered degradation, impaired phosphorylation by GSK3B and loss of cytoplasmic localization; when associated with A-107; A-115 and A-119. Lower sensitivity to BTRC-triggered degradation, impaired phosphorylation by GSK3B and loss of cytoplasmic localization; when associated with A-96; A-100; A-107; A-115 and A-119.
up seq anno comments: Lower sensitivity to BTRC-triggered degradation, impaired phosphorylation by GSK3B and loss of cytoplasmic localization; when associated with A-111; A-115 and A-119. Lower sensitivity to BTRC-triggered degradation, impaired phosphorylation by GSK3B and loss of cytoplasmic localization; when associated with A-96; A-100; A-111; A-115 and A-119. Increases protein stability, does not affect repressor activity on E-cadherin promoter, preferentially localizes to the nucleus, induces a more aggressive tissue invasion program and impairs phosphorylation by GSK3B, binding to BTRC and ubiquitination; when associated with A-104. Impairs phosphorylation in the serine-rich region; when associated with A-92 and A-104. Abolishes phosphorylation at S-96.
up seq anno comments: Lower sensitivity to FBXL14-triggered degradation. Lower sensitivity to FBXL14-triggered degradation; when associated with R-137. Complete loss of sensitivity to FBXL14- and BTRC-triggered degradation; when associated with R-98 and R-137.
up seq anno comments: Lower sensitivity to FBXL14-triggered degradation. Lower sensitivity to FBXL14-triggered degradation; when associated with R-146. Complete loss of sensitivity to FBXL14- and BTRC-triggered degradation and loss of ability to repress E-cadherin; when associated with R-98 and R-146.
up seq anno comments: Mildly reduces binding to KPNB1 and nuclear import.
up seq anno comments: Mildly reduces binding to KPNB1 and nuclear import. Strongly reduces binding to KPNB1 and nuclear import; when associated with A-193. Loss of binding to KPNB1 and nuclear import; when associated with A-193 and A-196.
up seq anno comments: Mildly reduces binding to KPNB1 and nuclear import. Strongly reduces binding to KPNB1 and nuclear import; when associated with A-228.
up seq anno comments: Mildly reduces binding to KPNB1 and nuclear import. Strongly reduces binding to KPNB1 and nuclear import; when associated with E-191. Loss of binding to KPNB1 and nuclear import; when associated with E-191 and A-196.
up seq anno comments: Mildly reduces binding to KPNB1. Does not affect binding to KPNA2, IPO7 or TNPO1.
up seq anno comments: No change. Complete loss of sensitivity to FBXL14- and BTRC-triggered degradation and loss of ability to repress E-cadherin/CDH1; when associated with R-137 and R-146.
up seq anno comments: O-linked (GlcNAc) serine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CK2
up seq anno comments: Phosphoserine; by PAK1
up seq anno comments: Phosphoserine; by PKA
up seq anno comments: Phosphothreonine; by LATS2
up seq anno comments: Polar residues
up seq anno comments: Predominantly localized to the cytoplasm; when associated with E-107; E-111 and E-115.
up seq anno comments: Predominantly localized to the cytoplasm; when associated with E-107; E-111 and E-119.
up seq anno comments: Predominantly localized to the cytoplasm; when associated with E-107; E-115 and E-119.
up seq anno comments: Predominantly localized to the cytoplasm; when associated with E-111; E-115 and E-119.
up seq anno comments: Very minor effect on binding to KPNB1 and nuclear import. Strongly reduces binding to KPNB1 and nuclear import; when associated with E-224.
up seq anno comments: Zinc finger protein SNAI1
up seq anno feature ids: PRO_0000047029
up seq anno feature ids: VAR_019969

9606:AGMAT
gene id: 9606:AGMAT
uniprot id: Q9BSE5
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: 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 labels: Transit Peptide
up seq anno comments: Agmatinase, 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 feature ids: PRO_0000002089
up seq anno feature ids: VAR_023485
up seq anno feature ids: VAR_048332

9606:PACS1
gene id: 9606:PACS1
uniprot id: A0A024R5H6
uniprot id: Q6VY07
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 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: 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: In SHMS.
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphofurin acidic cluster sorting protein 1
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: Removed
up seq anno feature ids: PRO_0000058171
up seq anno feature ids: VAR_053797
up seq anno feature ids: VAR_069534
up seq anno feature ids: VSP_011557

9606:LOC102723553
gene id: 9606:LOC102723553
uniprot id: P58511
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: Small integral membrane protein 11
up seq anno feature ids: PRO_0000079517
up seq anno feature ids: VAR_054066

9606:ESRP2
gene id: 9606:ESRP2
uniprot id: Q9H6T0
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 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: Epithelial splicing regulatory protein 2
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: RRM 1
up seq anno comments: RRM 2
up seq anno comments: RRM 3
up seq anno feature ids: PRO_0000273050
up seq anno feature ids: VAR_030074
up seq anno feature ids: VAR_030075
up seq anno feature ids: VAR_057245
up seq anno feature ids: VSP_022474

9606:RNF24
gene id: 9606:RNF24
uniprot id: Q9Y225
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 labels: Chain
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: Transmembrane
up seq anno labels: Turn
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 24
up seq anno comments: RING-type
up seq anno feature ids: PRO_0000056063
up seq anno feature ids: VSP_041026

9606:ATP5ME
gene id: 9606:ATP5ME
uniprot id: P56385
up seq anno parent labels: Modification
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:IL22RA2
gene id: 9606:IL22RA2
uniprot id: Q969J5
up 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 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: Turn
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: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: Interleukin-22 receptor subunit alpha-2
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000011016
up seq anno feature ids: VAR_021493
up seq anno feature ids: VAR_021494
up seq anno feature ids: VSP_013105
up seq anno feature ids: VSP_013106
up seq anno feature ids: VSP_013107

9606:FAM114A1
gene id: 9606:FAM114A1
uniprot id: A1MMZ0
uniprot id: Q8IWE2
up 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 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: Sequence Variant
up seq anno labels: Splice Variant
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 NOXP20
up seq anno feature ids: PRO_0000274561
up seq anno feature ids: VAR_030320
up seq anno feature ids: VAR_030321
up seq anno feature ids: VAR_030322
up seq anno feature ids: VAR_030323
up seq anno feature ids: VAR_030324
up seq anno feature ids: VAR_053823
up seq anno feature ids: VAR_053824
up seq anno feature ids: VSP_056466

9606:BAZ2A
gene id: 9606:BAZ2A
uniprot id: F8VU39
uniprot id: Q9UIF9
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: Secondary Structure
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: 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.T hook 1
up seq anno comments: A.T hook 2
up seq anno comments: A.T hook 3
up seq anno comments: A.T hook 4
up seq anno comments: Basic and acidic residues
up seq anno comments: Bromo
up seq anno comments: Bromodomain adjacent to zinc finger domain protein 2A
up seq anno comments: DDT
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 3.
up seq anno comments: MBD
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; by KAT8
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_0000211172
up seq anno feature ids: VAR_055548
up seq anno feature ids: VSP_019111
up seq anno feature ids: VSP_037960
up seq anno feature ids: VSP_037961

9606:RP1L1
gene id: 9606:RP1L1
uniprot id: Q8IWN7
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Domain Extent
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: 1-1; approximate
up seq anno comments: 1-2; approximate
up seq anno comments: 1-3
up seq anno comments: 2-1
up seq anno comments: 2-10
up seq anno comments: 2-11
up seq anno comments: 2-12; approximate
up seq anno comments: 2-13d
up seq anno comments: 2-14
up seq anno comments: 2-15; approximate
up seq anno comments: 2-16
up seq anno comments: 2-17
up seq anno comments: 2-18
up seq anno comments: 2-19
up seq anno comments: 2-2
up seq anno comments: 2-20
up seq anno comments: 2-21
up seq anno comments: 2-22
up seq anno comments: 2-23
up seq anno comments: 2-24
up seq anno comments: 2-25
up seq anno comments: 2-3
up seq anno comments: 2-4; approximate
up seq anno comments: 2-5
up seq anno comments: 2-6; approximate
up seq anno comments: 2-7
up seq anno comments: 2-8; approximate
up seq anno comments: 2-9; approximate
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Doublecortin 1
up seq anno comments: Doublecortin 2
up seq anno comments: In OCMD.
up seq anno comments: In OCMD; unknown pathological significance.
up seq anno comments: In RP88; unknown pathological significance.
up seq anno comments: In allele RP1L1-2 and allele RP1L1-3.
up seq anno comments: In allele RP1L1-2.
up seq anno comments: In allele RP1L1-3.
up seq anno comments: In allele RP1L1-4.
up seq anno comments: In allele RP1L1-5.
up seq anno comments: In allele RP1L1-6.
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Retinitis pigmentosa 1-like 1 protein
up seq anno feature ids: PRO_0000097406
up seq anno feature ids: VAR_017700
up seq anno feature ids: VAR_017701
up seq anno feature ids: VAR_017702
up seq anno feature ids: VAR_017703
up seq anno feature ids: VAR_017704
up seq anno feature ids: VAR_017705
up seq anno feature ids: VAR_017706
up seq anno feature ids: VAR_017707
up seq anno feature ids: VAR_017708
up seq anno feature ids: VAR_017709
up seq anno feature ids: VAR_017710
up seq anno feature ids: VAR_017712
up seq anno feature ids: VAR_017713
up seq anno feature ids: VAR_017715
up seq anno feature ids: VAR_017721
up seq anno feature ids: VAR_017722
up seq anno feature ids: VAR_017723
up seq anno feature ids: VAR_017724
up seq anno feature ids: VAR_017725
up seq anno feature ids: VAR_017726
up seq anno feature ids: VAR_017727
up seq anno feature ids: VAR_017728

9606:TRIAP1
gene id: 9606:TRIAP1
uniprot id: O43715
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 labels: Chain
up seq anno labels: Coiled-Coil
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: Strand
up seq anno comments: CHCH
up seq anno comments: Cx9C motif 1
up seq anno comments: Cx9C motif 2
up seq anno comments: Impairs interaction with PRELID3A.
up seq anno comments: N-acetylmethionine
up seq anno comments: TP53-regulated inhibitor of apoptosis 1
up seq anno feature ids: PRO_0000220523

9606:PTGES3L-AARSD1
gene id: 9606:PTGES3L-AARSD1
uniprot id: Q9BTE6
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Splice Variant
up seq anno comments: Alanyl-tRNA editing protein Aarsd1
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_0000277465
up seq anno feature ids: VSP_023014
up seq anno feature ids: VSP_043142

9606:CMSS1
gene id: 9606:CMSS1
uniprot id: Q9BQ75
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 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 isoform 2.
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Protein CMSS1
up seq anno feature ids: PRO_0000239014
up seq anno feature ids: VAR_033658
up seq anno feature ids: VAR_047645
up seq anno feature ids: VSP_046688

9606:MPP3
gene id: 9606:MPP3
uniprot id: D3DX46
uniprot id: Q13368
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 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 comments: Guanylate kinase-like
up seq anno comments: L27
up seq anno comments: L27 1
up seq anno comments: L27 2
up seq anno comments: MAGUK p55 subfamily member 3
up seq anno comments: PDZ
up seq anno comments: Phosphoserine
up seq anno comments: SH3
up seq anno feature ids: PRO_0000094575
up seq anno feature ids: VAR_050014

9606:HNRNPA0
gene id: 9606:HNRNPA0
uniprot id: Q13151
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: Crosslink
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno comments: Asymmetric dimethylarginine; alternate
up seq anno comments: Dimethylated arginine; alternate
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Heterogeneous nuclear ribonucleoprotein A0
up seq anno comments: N-acetylmethionine
up seq anno comments: N6-acetyllysine
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Omega-N-methylarginine; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by MAPKAPK2
up seq anno comments: RRM 1
up seq anno comments: RRM 2
up seq anno feature ids: PRO_0000081826

9606:FAM222A
gene id: 9606:FAM222A
uniprot id: Q5U5X8
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
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:ANAPC16
gene id: 9606:ANAPC16
uniprot id: A0A087WUN5
uniprot id: C5H3H2
uniprot id: Q96DE5
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 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: Turn
up seq anno comments: Anaphase-promoting complex subunit 16
up seq anno comments: N-acetylalanine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno feature ids: PRO_0000089816

9606:CD300LB
gene id: 9606:CD300LB
uniprot id: A8K4G0
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 labels: Chain
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: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Abolishes interaction with TYROBP, and strongly reduces activation properties.
up seq anno comments: CMRF35-like molecule 7
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: No effect on interaction with TYROBP, but strongly reduces activation properties.
up seq anno comments: Phosphotyrosine; by FYN
up seq anno feature ids: PRO_0000320130

9606:ATP1A1
gene id: 9606:ATP1A1
uniprot id: P05023
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: 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: Modified Residue
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: 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: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In CMT2DD; no effect on Na(+)-dependent currents.
up seq anno comments: In CMT2DD; shows fewer Na(+)-dependent currents than wild-type protein.
up seq anno comments: In CMT2DD; unknown pathological significance.
up seq anno comments: In CMT2DD; unknown pathological significance; requires 2 nucleotide substitutions.
up seq anno comments: In HOMGSMR2; results in altered sodium and potassium transport as shown by in vitro functional expression of the homologous rat 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: N6-acetyllysine
up seq anno comments: N6-succinyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PKA
up seq anno comments: Phosphotyrosine
up seq anno comments: Sodium/potassium-transporting ATPase subunit alpha-1
up seq anno feature ids: PRO_0000002483
up seq anno feature ids: PRO_0000002484
up seq anno feature ids: VAR_048374
up seq anno feature ids: VAR_081039
up seq anno feature ids: VAR_081040
up seq anno feature ids: VAR_081041
up seq anno feature ids: VAR_081042
up seq anno feature ids: VAR_081043
up seq anno feature ids: VAR_081044
up seq anno feature ids: VAR_081045
up seq anno feature ids: VAR_081937
up seq anno feature ids: VAR_081938
up seq anno feature ids: VAR_081939
up seq anno feature ids: VSP_000415
up seq anno feature ids: VSP_000416
up seq anno feature ids: VSP_044242
up seq anno feature ids: VSP_047309

9606:NUDT14
gene id: 9606:NUDT14
uniprot id: B3KXY7
uniprot id: O95848
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: Domain Extent
up seq anno labels: Helix
up seq anno labels: Motif
up seq anno labels: Strand
up seq anno comments: Nudix box
up seq anno comments: Nudix hydrolase
up seq anno comments: Uridine diphosphate glucose pyrophosphatase NUDT14
up seq anno feature ids: PRO_0000057113

9606:GALNT17
gene id: 9606:GALNT17
uniprot id: Q2L4S5
uniprot id: Q6IS24
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: 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: 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: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polypeptide N-acetylgalactosaminyltransferase 17
up seq anno comments: RICIN
up seq anno comments: Ricin B-type lectin
up seq anno feature ids: PRO_0000059139

9606:FAM13B
gene id: 9606:FAM13B
uniprot id: A0A2X0SG06
uniprot id: A0A8I5KSB9
uniprot id: Q9NYF5
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
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 comments: Protein FAM13B
up seq anno comments: Rho-GAP
up seq anno feature ids: PRO_0000058924
up seq anno feature ids: VAR_049020
up seq anno feature ids: VSP_042048
up seq anno feature ids: VSP_044870
up seq anno feature ids: VSP_044872

9606:RXFP4
gene id: 9606:RXFP4
uniprot id: Q8TDU9
up 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 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: Relaxin-3 receptor 2
up seq anno feature ids: PRO_0000070106
up seq anno feature ids: VAR_021516

9606:NUTM1
gene id: 9606:NUTM1
uniprot id: Q86Y26
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Abolishes methylation by N6AMT1.
up seq anno comments: Basic and acidic residues
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: N5-methylglutamine
up seq anno comments: NUT family member 1
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000311394
up seq anno feature ids: VAR_037239
up seq anno feature ids: VAR_037240
up seq anno feature ids: VAR_037241
up seq anno feature ids: VAR_037242
up seq anno feature ids: VAR_037243
up seq anno feature ids: VAR_037244
up seq anno feature ids: VSP_029559
up seq anno feature ids: VSP_029560
up seq anno feature ids: VSP_029561
up seq anno feature ids: VSP_055644
up seq anno feature ids: VSP_055645

9606:IDO1
gene id: 9606:IDO1
uniprot id: P14902
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: Secondary Structure
up seq anno parent labels: 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: Indoleamine 2,3-dioxygenase 1
up seq anno comments: proximal binding residue
up seq anno feature ids: PRO_0000215204
up seq anno feature ids: VAR_053368

9606:CLRN1
gene id: 9606:CLRN1
uniprot id: P58418
up 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 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: Clarin-1
up seq anno comments: Helical
up seq anno comments: In RP61; the mutant protein is retained in the endoplasmic reticulum.
up seq anno comments: In USH3A.
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_0000065729
up seq anno feature ids: VAR_012241
up seq anno feature ids: VAR_012242
up seq anno feature ids: VAR_030345
up seq anno feature ids: VAR_030346
up seq anno feature ids: VAR_053825
up seq anno feature ids: VAR_054555
up seq anno feature ids: VAR_054556
up seq anno feature ids: VAR_066673
up seq anno feature ids: VAR_066674
up seq anno feature ids: VAR_071434
up seq anno feature ids: VSP_022868
up seq anno feature ids: VSP_022869
up seq anno feature ids: VSP_043303

9606:TMEM71
gene id: 9606:TMEM71
uniprot id: Q6P5X7
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 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: In isoform 3.
up seq anno comments: Transmembrane protein 71
up seq anno feature ids: PRO_0000278283
up seq anno feature ids: VSP_023259
up seq anno feature ids: VSP_023260

9606:PREPL
gene id: 9606:PREPL
uniprot id: Q4J6C6
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: Secondary Structure
up seq anno parent labels: Site
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: 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: Charge relay system
up seq anno comments: Found in a patient with intellectual disability, short stature, chronic lung disease and failure to thrive; 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: Loss of catalytic activity.
up seq anno comments: N-acetylmethionine
up seq anno comments: No effect on catalytic activity.
up seq anno comments: Prolyl endopeptidase-like
up seq anno feature ids: PRO_0000314860
up seq anno feature ids: VAR_082151
up seq anno feature ids: VSP_030401
up seq anno feature ids: VSP_030402
up seq anno feature ids: VSP_030403

9606:YIPF4
gene id: 9606:YIPF4
uniprot id: Q9BSR8
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
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:SRL
gene id: 9606:SRL
uniprot id: B3KPP4
uniprot id: Q86TD4
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 labels: Chain
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 labels: Splice Variant
up seq anno comments: Dynamin-type G
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: Sarcalumenin
up seq anno feature ids: PRO_0000045426
up seq anno feature ids: PRO_5002790047
up seq anno feature ids: VSP_060762
up seq anno feature ids: VSP_060763

9606:PET117
gene id: 9606:PET117
uniprot id: L0R6F6
uniprot id: Q6UWS5
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Transit Peptide
up seq anno comments: In MC4DN19.
up seq anno comments: Mitochondrion
up seq anno comments: Protein PET117 homolog, mitochondrial
up seq anno feature ids: PRO_0000416096
up seq anno feature ids: PRO_5003947635
up seq anno feature ids: VAR_084185

9606:TPM4
gene id: 9606:TPM4
uniprot id: A0A5F9UN72
uniprot id: K7ENT6
uniprot id: P67936
uniprot id: V9HW56
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 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: 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: In a breast 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 comments: Tropomyosin alpha-4 chain
up seq anno feature ids: PRO_0000205635
up seq anno feature ids: VAR_036535
up seq anno feature ids: VSP_006611

9606:LDHAL6A
gene id: 9606:LDHAL6A
uniprot id: Q6ZMR3
up seq anno parent labels: Modification
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: Crosslink
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: L-lactate dehydrogenase A-like 6A
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: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Proton acceptor
up seq anno comments: Removed
up seq anno feature ids: PRO_0000168457

9606:JADE1
gene id: 9606:JADE1
uniprot id: B4E2E2
uniprot id: Q6IE81
up 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 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: 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: C2HC pre-PHD-type
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: N6-acetyllysine
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: Protein Jade-1
up seq anno feature ids: PRO_0000253529
up seq anno feature ids: VAR_053777
up seq anno feature ids: VSP_021045
up seq anno feature ids: VSP_021046
up seq anno feature ids: VSP_021047

9606:DUSP18
gene id: 9606:DUSP18
uniprot id: A0A024R1L2
uniprot id: Q8NEJ0
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: Secondary Structure
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: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Strand
up seq anno comments: Abolishes most of in vitro phosphatase activity.
up seq anno comments: Dual specificity protein phosphatase 18
up seq anno comments: No effect on in vitro phosphatase activity.
up seq anno comments: Phosphocysteine intermediate
up seq anno comments: TYR_PHOSPHATASE_2
up seq anno comments: Tyrosine-protein phosphatase
up seq anno feature ids: PRO_0000094828

9606:SLC15A2
gene id: 9606:SLC15A2
uniprot id: Q16348
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: Secondary Structure
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: 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: 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: Pro residues
up seq anno comments: Solute carrier family 15 member 2
up seq anno feature ids: PRO_0000064308
up seq anno feature ids: VAR_047001
up seq anno feature ids: VAR_047002
up seq anno feature ids: VAR_047003
up seq anno feature ids: VAR_047004
up seq anno feature ids: VAR_047005
up seq anno feature ids: VAR_047006
up seq anno feature ids: VAR_047008
up seq anno feature ids: VSP_043084

9606:KRBOX1
gene id: 9606:KRBOX1
uniprot id: A0A024R2N1
uniprot id: C9JBD0
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: KRAB
up seq anno comments: KRAB domain-containing protein 1
up seq anno feature ids: PRO_0000404593
up seq anno feature ids: VSP_040580

9606:FUT1
gene id: 9606:FUT1
uniprot id: P19526
up 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 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:SGPL1
gene id: 9606:SGPL1
uniprot id: O95470
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: Secondary Structure
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: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: 3'-nitrotyrosine
up seq anno comments: Almost no sphinganine-1-phosphate aldolase activity.
up seq anno comments: Cytoplasmic
up seq anno comments: Helical; Signal-anchor for type III membrane protein
up seq anno comments: In NPHS14.
up seq anno comments: In NPHS14; decreased protein abundance.
up seq anno comments: In NPHS14; probable disease-associated variant also found in a patient with isolated primary adrenal insufficiency; decreased protein abundance; increased aggregation; decreased sphinganine-1-phosphate aldolase activity.
up seq anno comments: In NPHS14; unknown pathological significance.
up seq anno comments: In NPHS1; decreased protein abundance in cells of patients homozygous for the mutation; increased aggregation; decreased sphinganine-1-phosphate aldolase activity.
up seq anno comments: Loss of sphinganine-1-phosphate aldolase activity.
up seq anno comments: Lumenal
up seq anno comments: N6-(pyridoxal phosphate)lysine; alternate
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: No effect on the sphinganine-1-phosphate aldolase activity; no effect on protein abundance.
up seq anno comments: Phosphoserine
up seq anno comments: Probable disease-associated variant found in patients with atypical form of axonal peripheral neuropathy, characterized by acute or subacute onset and episodes of recurrent mononeuropathy.
up seq anno comments: Sphingosine-1-phosphate lyase 1
up seq anno feature ids: PRO_0000147012
up seq anno feature ids: VAR_048875
up seq anno feature ids: VAR_079213
up seq anno feature ids: VAR_079214
up seq anno feature ids: VAR_079215
up seq anno feature ids: VAR_079216
up seq anno feature ids: VAR_079217
up seq anno feature ids: VAR_079218
up seq anno feature ids: VAR_081454
up seq anno feature ids: VAR_081455
up seq anno feature ids: VAR_081456

9606:OR51A4
gene id: 9606:OR51A4
uniprot id: Q8NGJ6
up 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 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 51A4
up seq anno feature ids: PRO_0000150743
up seq anno feature ids: VAR_034313
up seq anno feature ids: VAR_034314
up seq anno feature ids: VAR_053306
up seq anno feature ids: VAR_062076
up seq anno feature ids: VAR_062077

9606:MXD1
gene id: 9606:MXD1
uniprot id: B7ZLI7
uniprot id: Q05195
up 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 labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Motif
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: BHLH
up seq anno comments: In isoform 2.
up seq anno comments: Max dimerization protein 1
up seq anno comments: Nuclear localization signal
up seq anno comments: bHLH
up seq anno feature ids: PRO_0000127264
up seq anno feature ids: VSP_043074

9606:CYP27C1
gene id: 9606:CYP27C1
uniprot id: Q4G0S4
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: 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 labels: Transit Peptide
up seq anno comments: Cytochrome P450 27C1
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:RASL11A
gene id: 9606:RASL11A
uniprot id: Q6T310
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-like protein family member 11A
up seq anno feature ids: PRO_0000308360

9606:ZNF287
gene id: 9606:ZNF287
uniprot id: Q6PEZ3
uniprot id: Q9HBT7
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 labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Non-terminal Residue
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 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: SCAN box
up seq anno comments: Zinc finger protein 287
up seq anno feature ids: PRO_0000047511
up seq anno feature ids: VAR_024207

9606:SLC17A9
gene id: 9606:SLC17A9
uniprot id: H0UI90
uniprot id: Q9BYT1
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 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 POROK8.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: MFS
up seq anno comments: Solute carrier family 17 member 9
up seq anno feature ids: PRO_0000084849
up seq anno feature ids: VAR_055326
up seq anno feature ids: VAR_056128
up seq anno feature ids: VAR_071983
up seq anno feature ids: VAR_071984
up seq anno feature ids: VSP_010344
up seq anno feature ids: VSP_010345
up seq anno feature ids: VSP_010346

9606:CAPN5
gene id: 9606:CAPN5
uniprot id: A0A140VKH4
uniprot id: O15484
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: Site
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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: C2
up seq anno comments: Calpain catalytic
up seq anno comments: Calpain-5
up seq anno comments: In VRNI; largely mislocalized to the cytoplasm whereas the wild-type protein is localized near the cell surface.
up seq anno feature ids: PRO_0000207713
up seq anno feature ids: VAR_069277
up seq anno feature ids: VAR_069278

9606:DCAF16
gene id: 9606:DCAF16
uniprot id: Q9NXF7
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
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: N6-acetyllysine
up seq anno feature ids: PRO_0000301964
up seq anno feature ids: VAR_034917
up seq anno feature ids: VAR_034918

9606:ARHGEF6
gene id: 9606:ARHGEF6
uniprot id: B7Z3C7
uniprot id: Q15052
uniprot id: Q8N4Q3
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: 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: 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: Calponin-homology (CH)
up seq anno comments: DH
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: Rho guanine nucleotide exchange factor 6
up seq anno comments: SH3
up seq anno feature ids: PRO_0000080917
up seq anno feature ids: VAR_051981
up seq anno feature ids: VSP_015782

9606:GSDMA
gene id: 9606:GSDMA
uniprot id: Q96QA5
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: 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: Transmembrane
up seq anno comments: Abolished cleavage by S.pyogenes effector protein SpeB, preventing pyroptosis.
up seq anno comments: Beta stranded
up seq anno comments: Gasdermin-A
up seq anno comments: Gasdermin-A, C-terminal
up seq anno comments: Gasdermin-A, N-terminal
up seq anno comments: Spontaneous pyroptosis-inducing activity.
up seq anno feature ids: PRO_0000148173
up seq anno feature ids: PRO_0000451664
up seq anno feature ids: PRO_0000451665
up seq anno feature ids: VAR_035010
up seq anno feature ids: VAR_035011
up seq anno feature ids: VAR_035012
up seq anno feature ids: VAR_062005

9606:CCDC73
gene id: 9606:CCDC73
uniprot id: Q6ZRK6
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 labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased 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 73
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000285294
up seq anno feature ids: VSP_024861
up seq anno feature ids: VSP_024862
up seq anno feature ids: VSP_024863

9606:PML
gene id: 9606:PML
uniprot id: P29590
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: Secondary Structure
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: 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: 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 conjugation of one SUMO1P1/SUMO5. Loss of 2 sumoylations; when associated with R-65 with or without R-133. No effect on nuclear body formation; when associated with R-65. No sumoylation nor nuclear body formation; when associated with R-65 and R-160. Loss the ability to be conjugated by SUMO1P1/SUMO5 but could be conjugated by SUMO1; when associated with R-65 and R-160.
up seq anno comments: Abolishes SUMO1 binding.
up seq anno comments: Abolishes ubiquitination by the BCR(KLHL20) E3 ubiquitin ligase complex.
up seq anno comments: B box-type 1; atypical
up seq anno comments: B box-type 2
up seq anno comments: Basic and acidic residues
up seq anno comments: Compromised the formation of high molecular weight species of SUMO1P1/SUMO5 conjugation on PML. Loss of 2 sumoylations; when associated with or without R-65. No sumoylation nor nuclear body formation; when associated with or without R-65 and R-490. Loss the ability to be conjugated by SUMO1P1/SUMO5 but could be conjugated by SUMO1; when associated with R-65 and R-490.
up seq anno comments: Does not affect SUMO1P1/SUMO5 conjugation.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in /SUMO5); 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 SUMO1P1/SUMO5); 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: In isoform PML-11, isoform PML-12 and isoform PML-13.
up seq anno comments: In isoform PML-14.
up seq anno comments: In isoform PML-2 and isoform PML-13.
up seq anno comments: In isoform PML-3.
up seq anno comments: In isoform PML-4 and isoform PML-12.
up seq anno comments: In isoform PML-5.
up seq anno comments: In isoform PML-6.
up seq anno comments: In isoform PML-7.
up seq anno comments: In isoform PML-8.
up seq anno comments: Loss of 2 sumoylations; when associated with R-65 and R-490.
up seq anno comments: Loss of 2 sumoylations; when associated with R-65 with or without R-133. No effect on nuclear body formation; when associated with R-65. No sumoylation nor nuclear body formation; when associated with R-65 and R-160.
up seq anno comments: Loss of 2 sumoylations; when associated with or without R-65. No sumoylation nor nuclear body formation; when associated with or without R-65 and R-490.
up seq anno comments: Loss of cleavage by enterovirus 71 protease 3C.
up seq anno comments: Loss of nuclear localization. Reduced acetylation. Further decrease in acetylation; when associated with R-515.
up seq anno comments: Loss of nuclear localization; when associated with A-487.
up seq anno comments: Loss of nuclear localization; when associated with A-490.
up seq anno comments: Loss of one sumoylation. No effect on nuclear body formation. Loss of 2 sumoylations; when associated with R-490 with or without R-133 or R-150. No effect on nuclear body formation; when associated with R-490. Loss the ability to be conjugated by SUMO1P1/SUMO5 but could be conjugated by SUMO1; when associated with R-160 and R-490.
up seq anno comments: Loss of one sumoylation. No effect on nuclear body formation. Loss of 2 sumoylations; when associated with R-490 with or without R-133 or R-150. No effect on nuclear body formation; when associated with R-490. No sumoylation nor nuclear body formation; when associated with R-160 and R-490.
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: No effect on sumoylation levels.
up seq anno comments: No nuclear microspeckle location, no sumoylation and loss of intrinsic transcriptional repressor activity of PML-RARA oncoprotein; when associated with R-89.
up seq anno comments: No nuclear microspeckle location, no sumoylation and loss of intrinsic transcriptional repressor activity of PML-RARA oncoprotein; when associated with S-88.
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CDK1 and CDK2
up seq anno comments: Phosphoserine; by CHEK2
up seq anno comments: Phosphoserine; by CK2
up seq anno comments: Phosphoserine; by HIPK2
up seq anno comments: Phosphoserine; by HIPK2 and MAPK1
up seq anno comments: Phosphoserine; by MAPK1
up seq anno comments: Phosphoserine; by MAPK1 and MAPK7
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Protein PML
up seq anno comments: RING-type
up seq anno comments: Slightly reduced acetylation. Further decrease in acetylation; when associated with R-487.
up seq anno comments: Strongly reduced sumoylation; when associated with S-57.
up seq anno comments: Strongly reduced sumoylation; when associated with S-60.
up seq anno feature ids: PRO_0000056001
up seq anno feature ids: VAR_052090

9606:COQ5
gene id: 9606:COQ5
uniprot id: Q5HYK3
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: 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: Transit Peptide
up seq anno comments: 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial
up seq anno comments: Mitochondrion
up seq anno feature ids: PRO_0000228628
up seq anno feature ids: VAR_025702

9606:LTN1
gene id: 9606:LTN1
uniprot id: O94822
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 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:FYN
gene id: 9606:FYN
uniprot id: P06241
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: Secondary Structure
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: 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: Turn
up seq anno comments: In a lung squamous cell 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: N-myristoyl glycine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine; by PKC
up seq anno comments: Phosphotyrosine
up seq anno comments: Phosphotyrosine; by CSK
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: 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 Fyn
up seq anno feature ids: PRO_0000088099
up seq anno feature ids: VAR_014661
up seq anno feature ids: VAR_041704
up seq anno feature ids: VAR_041705
up seq anno feature ids: VAR_041706
up seq anno feature ids: VSP_024108
up seq anno feature ids: VSP_024110

9606:SP5
gene id: 9606:SP5
uniprot id: Q6BEB4
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Motif
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
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: Pro residues
up seq anno comments: Transcription factor Sp5
up seq anno feature ids: PRO_0000047146
up seq anno feature ids: VAR_052713

9606:UBR7
gene id: 9606:UBR7
uniprot id: Q8N806
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 labels: Chain
up seq anno labels: Crosslink
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: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In LICAS; no UBR7 protein detected in patient cells.
up seq anno comments: In LICAS; unknown pathological significance.
up seq anno comments: PHD-type; atypical
up seq anno comments: Phosphoserine
up seq anno comments: Putative E3 ubiquitin-protein ligase UBR7
up seq anno comments: UBR-type
up seq anno feature ids: PRO_0000089932
up seq anno feature ids: VAR_085255
up seq anno feature ids: VAR_085256

9606:OR4N4
gene id: 9606:OR4N4
uniprot id: A0A126GVN2
uniprot id: Q8N0Y3
up 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 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_RECEP_F1_2
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 4N4
up seq anno feature ids: PRO_0000150564
up seq anno feature ids: VAR_048034
up seq anno feature ids: VAR_048035
up seq anno feature ids: VAR_048036
up seq anno feature ids: VAR_048037

9606:TENM4
gene id: 9606:TENM4
uniprot id: Q6N022
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: Secondary Structure
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: Repeat
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: Basic and acidic residues
up seq anno comments: Cytoplasmic
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: Found in a patiend with developmental delay, cleft palate and proliferative retinopathy; unknown pathological significance.
up seq anno comments: Helical
up seq anno comments: In ETM5; dominant negative effect on central nervous myelination and axon guidance; changed localization to the plasma membrane; clustered plasma membrane localization.
up seq anno comments: In ETM5; unknown pathological significance.
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: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Teneurin N-terminal
up seq anno comments: Teneurin-4
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
up seq anno comments: YD 18
up seq anno comments: YD 19
up seq anno comments: YD 2
up seq anno comments: YD 20
up seq anno comments: YD 21
up seq anno comments: YD 22
up seq anno comments: YD 23
up seq anno comments: YD 3
up seq anno comments: YD 4
up seq anno comments: YD 5
up seq anno comments: YD 6
up seq anno comments: YD 7
up seq anno comments: YD 8
up seq anno comments: YD 9
up seq anno feature ids: PRO_0000259508
up seq anno feature ids: VAR_060130
up seq anno feature ids: VAR_060131
up seq anno feature ids: VAR_062167
up seq anno feature ids: VAR_076521
up seq anno feature ids: VAR_076522
up seq anno feature ids: VAR_076523
up seq anno feature ids: VAR_076654
up seq anno feature ids: VAR_076655

9606:TRIM8
gene id: 9606:TRIM8
uniprot id: Q9BZR9
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 labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: B box-type 1
up seq anno comments: B box-type 2
up seq anno comments: Complete loss of ubiquitination activity on MAP3K7/TAK1.
up seq anno comments: Complete loss of ubiquitination activity on TICAM1.
up seq anno comments: E3 ubiquitin-protein ligase TRIM8
up seq anno comments: In FSGSNEDS.
up seq anno comments: In FSGSNEDS; also found in a patient with Coffin-Siris syndrome carrying a likely pathogenic ARID2 mutation.
up seq anno comments: In FSGSNEDS; disrupts localization to nuclear bodies.
up seq anno comments: RING-type
up seq anno feature ids: PRO_0000056206
up seq anno feature ids: VAR_080568
up seq anno feature ids: VAR_086209
up seq anno feature ids: VAR_086210
up seq anno feature ids: VAR_086211
up seq anno feature ids: VAR_086212
up seq anno feature ids: VAR_086213
up seq anno feature ids: VAR_086214
up seq anno feature ids: VAR_086215
up seq anno feature ids: VAR_086216
up seq anno feature ids: VAR_086217

9606:RB1CC1
gene id: 9606:RB1CC1
uniprot id: Q8TDY2
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: 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: 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 a breast cancer 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: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: RB1-inducible coiled-coil protein 1
up seq anno feature ids: PRO_0000097183
up seq anno feature ids: VAR_023776
up seq anno feature ids: VAR_033031
up seq anno feature ids: VAR_051309
up seq anno feature ids: VAR_051310
up seq anno feature ids: VAR_051311
up seq anno feature ids: VAR_051312
up seq anno feature ids: VSP_040097

9606:NAA38
gene id: 9606:NAA38
uniprot id: I3L3Z2
uniprot id: I3L4V0
uniprot id: Q9BRA0
up 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 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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylalanine
up seq anno comments: N-alpha-acetyltransferase 38, NatC auxiliary subunit
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno comments: Sm
up seq anno feature ids: PRO_0000299155
up seq anno feature ids: VAR_082914
up seq anno feature ids: VSP_027566

9606:IFRD1
gene id: 9606:IFRD1
uniprot id: A4D0U1
uniprot id: O00458
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Found in a renal cell carcinoma sample; somatic mutation.
up seq anno comments: IFRD
up seq anno comments: IFRD_C
up seq anno comments: In isoform 2.
up seq anno comments: Interferon-related developmental regulator 1
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000153285
up seq anno feature ids: VAR_064723
up seq anno feature ids: VSP_044304

9606:CYP2A13
gene id: 9606:CYP2A13
uniprot id: Q16696
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: Secondary Structure
up seq anno parent labels: 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Cytochrome P450 2A13
up seq anno comments: Decreases phenacetin O-deethylation activity 10 fold.
up seq anno comments: Decreases phenacetin O-deethylation activity 2 fold.
up seq anno comments: Decreases phenacetin O-deethylation activity 20 fold.
up seq anno comments: Decreases phenacetin O-deethylation activity 3 fold.
up seq anno comments: Decreases phenacetin O-deethylation activity 40 fold.
up seq anno comments: Decreases phenacetin O-deethylation activity 7 fold.
up seq anno comments: Decreases phenacetin O-deethylation activity 8 fold.
up seq anno comments: Decreases phenacetin O-deethylation activity 9 fold.
up seq anno comments: In allele CYP2A13*2.
up seq anno comments: In allele CYP2A13*3 and allele CYP2A13*8.
up seq anno comments: In allele CYP2A13*3.
up seq anno comments: In allele CYP2A13*4.
up seq anno comments: In allele CYP2A13*5.
up seq anno comments: In allele CYP2A13*6.
up seq anno comments: In allele CYP2A13*9.
up seq anno comments: Increases phenacetin O-deethylation activity 3 fold.
up seq anno comments: Increases phenacetin O-deethylation activity 5 fold.
up seq anno comments: axial binding residue
up seq anno feature ids: PRO_0000051676
up seq anno feature ids: VAR_013835
up seq anno feature ids: VAR_018334
up seq anno feature ids: VAR_018335
up seq anno feature ids: VAR_018336
up seq anno feature ids: VAR_018337
up seq anno feature ids: VAR_018338
up seq anno feature ids: VAR_018339
up seq anno feature ids: VAR_018356

9606:ACOT8
gene id: 9606:ACOT8
uniprot id: O14734
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: Site
up seq anno labels: Active Site
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 comments: Acyl-coenzyme A thioesterase 8
up seq anno comments: Charge relay system
up seq anno comments: Microbody targeting signal
up seq anno comments: Reduces Acyl-CoA thioesterase activity and peroxisome proliferation.
up seq anno feature ids: PRO_0000202152

9606:ZDHHC6
gene id: 9606:ZDHHC6
uniprot id: A0A0D9SEX5
uniprot id: A0A804HJ40
uniprot id: Q9H6R6
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: Site
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: 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: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Abolishes palmitoylation, leading to impaired homooligomeization and decreased catalytic activity; when associated with 328-A-A-329.
up seq anno comments: Abolishes palmitoylation, leading to impaired homooligomeization and decreased catalytic activity; when associated with A-343.
up seq anno comments: Cytoplasmic
up seq anno comments: DHHC
up seq anno comments: Di-lysine motif
up seq anno comments: Does not affect localization to the endoplasmic reticulum.
up seq anno comments: Helical
up seq anno comments: Impaired localization to the endoplasmic reticulum.
up seq anno comments: In isoform 2.
up seq anno comments: Lumenal
up seq anno comments: Palmitoyltransferase ZDHHC6
up seq anno comments: S-palmitoyl cysteine
up seq anno comments: S-palmitoyl cysteine intermediate
up seq anno comments: SH3
up seq anno feature ids: PRO_0000212871
up seq anno feature ids: VAR_052974
up seq anno feature ids: VSP_006938

9606:RSPH4A
gene id: 9606:RSPH4A
uniprot id: B3KTA9
uniprot id: Q5TD94
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
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: In CILD11.
up seq anno comments: In CILD11; 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: Pro residues
up seq anno comments: Radial spoke head protein 4 homolog A
up seq anno feature ids: PRO_0000313738
up seq anno feature ids: VAR_037715
up seq anno feature ids: VAR_037716
up seq anno feature ids: VAR_037717
up seq anno feature ids: VAR_037718
up seq anno feature ids: VAR_037719
up seq anno feature ids: VAR_055235
up seq anno feature ids: VAR_070565
up seq anno feature ids: VSP_030125
up seq anno feature ids: VSP_030126
up seq anno feature ids: VSP_030127

9606:IL1R2
gene id: 9606:IL1R2
uniprot id: P27930
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: Secondary Structure
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: 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 C2-type 3
up seq anno comments: In isoform Short.
up seq anno comments: Interleukin-1 receptor type 2, membrane form
up seq anno comments: Interleukin-1 receptor type 2, soluble form
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000015439
up seq anno feature ids: PRO_0000415348
up seq anno feature ids: VAR_019132
up seq anno feature ids: VAR_019133
up seq anno feature ids: VSP_042222

9606:TUBA3D
gene id: 9606:TUBA3D
uniprot id: P0DPH8
uniprot id: Q1ZYQ1
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: 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: Motif
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: 3'-nitrotyrosine
up seq anno comments: Detyrosinated tubulin alpha-3D chain
up seq anno comments: In KTCN9; loss of protein.
up seq anno comments: MREC motif
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Tubulin
up seq anno comments: Tubulin alpha-3D chain
up seq anno comments: Tubulin_C
up seq anno feature ids: PRO_0000444671
up seq anno feature ids: PRO_0000444672
up seq anno feature ids: VAR_080471

9606:OSCP1
gene id: 9606:OSCP1
uniprot id: Q8WVF1
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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:NMNAT2
gene id: 9606:NMNAT2
uniprot id: Q9BZQ4
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: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Lipid Binding
up seq anno labels: Mutagenesis Site
up seq anno labels: Splice Variant
up seq anno comments: Abolished nicotinamide-nucleotide adenylyltransferase activity; abolished ability to promote mono-ADP-ribosylation of ribosomes.
up seq anno comments: In isoform 2.
up seq anno comments: Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2
up seq anno comments: Reduces activity by 95%.
up seq anno comments: S-palmitoyl cysteine
up seq anno comments: in other chain
up seq anno feature ids: PRO_0000135014
up seq anno feature ids: VSP_015571

9606:LGR5
gene id: 9606:LGR5
uniprot id: A0A0A8K8C7
uniprot id: O75473
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: Secondary Structure
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: 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: Abolishes activation of Wnt signaling.
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G_PROTEIN_RECEP_F1_2
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: Impaired internalization to the trans-Golgi network; when associated with A-861.
up seq anno comments: Impaired internalization to the trans-Golgi network; when associated with A-864.
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 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 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: Leucine-rich repeat-containing G-protein coupled receptor 5
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000012794
up seq anno feature ids: PRO_5014220899
up seq anno feature ids: VAR_049411
up seq anno feature ids: VAR_049412
up seq anno feature ids: VSP_037746
up seq anno feature ids: VSP_054782

9606:ENTPD6
gene id: 9606:ENTPD6
uniprot id: B4DDM7
uniprot id: B4DHS2
uniprot id: B4DU64
uniprot id: B4E1D1
uniprot id: O75354
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: 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 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: Does not affect nucleoside-triphosphatase activity. Does not affeet KM for GDP.
up seq anno comments: Ectonucleoside triphosphate diphosphohydrolase 6
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: In isoform 3.
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000209913
up seq anno feature ids: VAR_017863
up seq anno feature ids: VAR_027812
up seq anno feature ids: VAR_027813
up seq anno feature ids: VAR_027814
up seq anno feature ids: VAR_050309
up seq anno feature ids: VSP_039122
up seq anno feature ids: VSP_054314

9606:SLC30A8
gene id: 9606:SLC30A8
uniprot id: Q8IWU4
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: Site
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: 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: 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:P4HA1
gene id: 9606:P4HA1
uniprot id: P13674
uniprot id: Q5VSQ6
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: Secondary Structure
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: 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:GSK3A
gene id: 9606:GSK3A
uniprot id: A0A024R0L5
uniprot id: P49840
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: 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: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Glycogen synthase kinase-3 alpha
up seq anno comments: N-acetylserine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PKB/AKT1
up seq anno comments: Phosphotyrosine
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Removed
up seq anno feature ids: PRO_0000085978
up seq anno feature ids: VAR_040539
up seq anno feature ids: VAR_051625

9606:TINAG
gene id: 9606:TINAG
uniprot id: Q6NSC1
uniprot id: Q9UJW2
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 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 comments: Alternate
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: SMB
up seq anno comments: Tubulointerstitial nephritis antigen
up seq anno feature ids: PRO_0000050600
up seq anno feature ids: VAR_047091
up seq anno feature ids: VAR_047092
up seq anno feature ids: VAR_047093
up seq anno feature ids: VAR_047094
up seq anno feature ids: VAR_047095
up seq anno feature ids: VSP_050567
up seq anno feature ids: VSP_050568

9606:SMAGP
gene id: 9606:SMAGP
uniprot id: Q0VAQ4
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: 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; Signal-anchor for type III membrane protein
up seq anno comments: O-linked (GalNAc...) serine
up seq anno comments: O-linked (GalNAc...) threonine
up seq anno comments: Small cell adhesion glycoprotein
up seq anno feature ids: PRO_0000328795

9606:CD274
gene id: 9606:CD274
uniprot id: Q0GN75
uniprot id: Q9NZQ7
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: Secondary Structure
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: 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: Ig-like C2-type
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: Programmed cell death 1 ligand 1
up seq anno feature ids: PRO_0000014553
up seq anno feature ids: PRO_5004172848
up seq anno feature ids: VSP_013735
up seq anno feature ids: VSP_013736
up seq anno feature ids: VSP_013737

9606:SYT5
gene id: 9606:SYT5
uniprot id: A0A024R4N8
uniprot id: O00445
uniprot id: Q4FD32
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: 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: 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
up seq anno comments: C2 1
up seq anno comments: C2 2
up seq anno comments: Cytoplasmic
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:CSDE1
gene id: 9606:CSDE1
uniprot id: A0A024R0E2
uniprot id: A0A024R0K2
uniprot id: O75534
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: Secondary Structure
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
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:GGACT
gene id: 9606:GGACT
uniprot id: Q9BVM4
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: Secondary Structure
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: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Gamma-glutamylaminecyclotransferase
up seq anno comments: Loss of activity.
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000320203

9606:CEACAM5
gene id: 9606:CEACAM5
uniprot id: A0A024R0K5
uniprot id: P06731
uniprot id: Q53G30
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: Secondary Structure
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: Non-terminal 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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes dimerization.
up seq anno comments: Abolishes dimerization. Reduced affinity for E.coli Dr adhesins.
up seq anno comments: Carcinoembryonic antigen-related cell adhesion molecule 5
up seq anno comments: GPI-anchor amidated alanine
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 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No effect on dimerization.
up seq anno comments: No effect on dimerization. Reduced affinity for E.coli Dr adhesins.
up seq anno comments: Removed in mature form
up seq anno feature ids: PRO_0000014566
up seq anno feature ids: PRO_0000014567
up seq anno feature ids: PRO_5004248789
up seq anno feature ids: PRO_5014008696
up seq anno feature ids: VAR_024493
up seq anno feature ids: VAR_031091
up seq anno feature ids: VAR_031092
up seq anno feature ids: VAR_056028
up seq anno feature ids: VAR_056029
up seq anno feature ids: VAR_061310
up seq anno feature ids: VAR_061311
up seq anno feature ids: VSP_053414

9606:PRG2
gene id: 9606:PRG2
uniprot id: P13727
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: Secondary Structure
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: 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: Acidic
up seq anno comments: Acidic residues
up seq anno comments: Bone marrow proteoglycan
up seq anno comments: C-type lectin
up seq anno comments: Eosinophil granule major basic protein
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Interchain (with C-461 in PAPPA)
up seq anno comments: Interchain (with C-732 in PAPPA)
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: O-linked (GalNAc...) threonine; partial
up seq anno comments: O-linked (Xyl...) (chondroitin sulfate) serine
up seq anno feature ids: PRO_0000017385
up seq anno feature ids: PRO_0000017386
up seq anno feature ids: PRO_0000259923
up seq anno feature ids: VAR_036401
up seq anno feature ids: VAR_060729
up seq anno feature ids: VSP_056735

9606:CSAD
gene id: 9606:CSAD
uniprot id: A0A024RAX7
uniprot id: Q86V02
uniprot id: Q96JQ3
uniprot id: Q9Y600
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: Secondary Structure
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: 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: 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:VPS13C
gene id: 9606:VPS13C
uniprot id: Q709C8
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 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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Abnormal localization to the cytosol.
up seq anno comments: Basic residues
up seq anno comments: Chorein N-terminal
up seq anno comments: FFAT
up seq anno comments: In PARK23.
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: Intermembrane lipid transfer protein VPS13C
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: SHR-BD
up seq anno feature ids: PRO_0000262949
up seq anno feature ids: VAR_029548
up seq anno feature ids: VAR_029549
up seq anno feature ids: VAR_029550
up seq anno feature ids: VAR_029551
up seq anno feature ids: VAR_029552
up seq anno feature ids: VAR_029553
up seq anno feature ids: VAR_029554
up seq anno feature ids: VAR_029555
up seq anno feature ids: VAR_029556
up seq anno feature ids: VAR_053808
up seq anno feature ids: VAR_074191
up seq anno feature ids: VAR_076363
up seq anno feature ids: VSP_052243
up seq anno feature ids: VSP_052244
up seq anno feature ids: VSP_052245

9606:MED11
gene id: 9606:MED11
uniprot id: Q9P086
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: 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 labels: Sequence Conflict
up seq anno labels: Strand
up seq anno comments: Mediator of RNA polymerase II transcription subunit 11
up seq anno comments: N-acetylalanine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000304308

9606:DNAH1
gene id: 9606:DNAH1
uniprot id: A0A140VJI6
uniprot id: Q9P2D7
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: 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: Motif
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: AAA_6
up seq anno comments: AAA_8
up seq anno comments: AAA_9
up seq anno comments: AAA_lid_1
up seq anno comments: AAA_lid_11
up seq anno comments: CFDEFNR motif
up seq anno comments: DHC_N2
up seq anno comments: Dynein axonemal heavy chain 1
up seq anno comments: Dynein_AAA_lid
up seq anno comments: Dynein_C
up seq anno comments: Dynein_heavy
up seq anno comments: GPAGTGKT motif
up seq anno comments: In CILD37.
up seq anno comments: In SPGF18.
up seq anno comments: In SPGF18; unknown pathological significance.
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: MT
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000318936
up seq anno feature ids: VAR_038912
up seq anno feature ids: VAR_038913
up seq anno feature ids: VAR_038914
up seq anno feature ids: VAR_038915
up seq anno feature ids: VAR_062176
up seq anno feature ids: VAR_064924
up seq anno feature ids: VAR_079510
up seq anno feature ids: VAR_079511
up seq anno feature ids: VAR_079512
up seq anno feature ids: VAR_080888
up seq anno feature ids: VAR_080889
up seq anno feature ids: VAR_080890
up seq anno feature ids: VAR_080891
up seq anno feature ids: VAR_080892
up seq anno feature ids: VAR_080893
up seq anno feature ids: VAR_080894
up seq anno feature ids: VAR_080895
up seq anno feature ids: VAR_080896
up seq anno feature ids: VAR_080897
up seq anno feature ids: VAR_080898
up seq anno feature ids: VAR_080899
up seq anno feature ids: VAR_080900
up seq anno feature ids: VAR_080901
up seq anno feature ids: VAR_080902
up seq anno feature ids: VSP_031305
up seq anno feature ids: VSP_031306
up seq anno feature ids: VSP_059797
up seq anno feature ids: VSP_059798
up seq anno feature ids: VSP_059799
up seq anno feature ids: VSP_059800

9606:DNAI4
gene id: 9606:DNAI4
uniprot id: A0AVI9
uniprot id: Q5VTH9
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased 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: Dynein axonemal intermediate chain 4
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
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 feature ids: PRO_0000262773
up seq anno feature ids: VAR_057635
up seq anno feature ids: VAR_057636
up seq anno feature ids: VAR_057637
up seq anno feature ids: VSP_021812
up seq anno feature ids: VSP_021815
up seq anno feature ids: VSP_021816
up seq anno feature ids: VSP_021817

9606:ADAT3
gene id: 9606:ADAT3
uniprot id: D6W601
uniprot id: Q96EY9
up 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: 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: CMP/dCMP-type deaminase
up seq anno comments: In NEDBGF.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: N-acetylmethionine
up seq anno comments: Probable inactive tRNA-specific adenosine deaminase-like protein 3
up seq anno feature ids: PRO_0000287658
up seq anno feature ids: VAR_035804
up seq anno feature ids: VAR_069778

9606:RNF111
gene id: 9606:RNF111
uniprot id: A0A024R5T5
uniprot id: Q6ZNA4
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: Secondary Structure
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: 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: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Abolishes SUMO binding.
up seq anno comments: Abolishes binding to sumoylated proteins and ubiquitination and degradation of XPC; when associated with 300-A--A-303 and 326-A--A-329.
up seq anno comments: Abolishes binding to sumoylated proteins and ubiquitination and degradation of XPC; when associated with 300-A--A-303 and 382-A--A-385.
up seq anno comments: Abolishes binding to sumoylated proteins and ubiquitination and degradation of XPC; when associated with 326-A--A-329 and 382-A--A-385.
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: E3 ubiquitin-protein ligase Arkadia
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
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 affinity to SUMO1 and SUMO2.
up seq anno comments: No loss of affinity toward SUMO1 and SUMO2.
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: RING-type
up seq anno comments: RING-type; atypical
up seq anno comments: SUMO interaction motif 1 (SIM)
up seq anno comments: SUMO interaction motif 2 (SIM)
up seq anno comments: SUMO interaction motif 3 (SIM)
up seq anno feature ids: PRO_0000280690
up seq anno feature ids: VAR_031185
up seq anno feature ids: VAR_057216
up seq anno feature ids: VSP_023840
up seq anno feature ids: VSP_023841

9606:ZFC3H1
gene id: 9606:ZFC3H1
uniprot id: O60293
up 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 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: Repeat
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: C3H1-type
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 4.
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 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: Zinc finger C3H1 domain-containing protein
up seq anno feature ids: PRO_0000286103
up seq anno feature ids: VAR_032070
up seq anno feature ids: VAR_032071
up seq anno feature ids: VSP_024992
up seq anno feature ids: VSP_024993
up seq anno feature ids: VSP_024995

9606:TERB2
gene id: 9606:TERB2
uniprot id: Q8NHR7
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
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: Telomere repeats-binding bouquet formation protein 2
up seq anno feature ids: PRO_0000263717
up seq anno feature ids: VAR_029614
up seq anno feature ids: VAR_076385
up seq anno feature ids: VAR_076386

9606:ZNF75A
gene id: 9606:ZNF75A
uniprot id: A0A590UJE0
uniprot id: Q68CU0
uniprot id: Q96N20
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
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 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: In a breast cancer sample; somatic mutation.
up seq anno comments: KRAB
up seq anno comments: SCAN box
up seq anno comments: Zinc finger protein 75A
up seq anno feature ids: PRO_0000047385
up seq anno feature ids: VAR_033545
up seq anno feature ids: VAR_035570

9606:ALDH18A1
gene id: 9606:ALDH18A1
uniprot id: P54886
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: Secondary Structure
up seq anno parent labels: 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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Delta-1-pyrroline-5-carboxylate synthase
up seq anno comments: In ADCL3.
up seq anno comments: In ADCL3; no effect on protein abundance; altered sub-mitochondrial distribution; decreased proline biosynthetic process.
up seq anno comments: In ARCL3A.
up seq anno comments: In ARCL3A; benign variant.
up seq anno comments: In ARCL3A; does not affect proline and ornithine biosynthetic activity.
up seq anno comments: In ARCL3A; reduction of activity.
up seq anno comments: In SPG9A.
up seq anno comments: In SPG9A; altered homohexamerization; no effect on localization to the mitochondrion; loss of glutamate 5-kinase activity; no effect on glutamate-5-semialdehyde dehydrogenase activity; decreased amino acid biosynthetic process.
up seq anno comments: In SPG9A; decreased protein abundance; no effect on localization to the mitochondrion; altered homohexamerization; loss of glutamate 5-kinase activity; no effect on glutamate-5-semialdehyde dehydrogenase activity; decreased amino acid biosynthetic process.
up seq anno comments: In SPG9B.
up seq anno comments: In isoform Short.
up seq anno comments: N6-succinyllysine
up seq anno feature ids: PRO_0000109769
up seq anno feature ids: VAR_038482
up seq anno feature ids: VAR_051792
up seq anno feature ids: VAR_051793
up seq anno feature ids: VAR_058006
up seq anno feature ids: VAR_075884
up seq anno feature ids: VAR_075885
up seq anno feature ids: VAR_075886
up seq anno feature ids: VAR_075887
up seq anno feature ids: VAR_075888
up seq anno feature ids: VAR_075889
up seq anno feature ids: VAR_075890
up seq anno feature ids: VAR_075891
up seq anno feature ids: VAR_075892
up seq anno feature ids: VAR_075893
up seq anno feature ids: VAR_075894
up seq anno feature ids: VAR_075895
up seq anno feature ids: VAR_075896
up seq anno feature ids: VSP_005215

9606:TMEM185B
gene id: 9606:TMEM185B
uniprot id: Q9H7F4
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
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 185B
up seq anno feature ids: PRO_0000188009

9606:ZNF277
gene id: 9606:ZNF277
uniprot id: Q9NRM2
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 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 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: Drastic reduction in binding to RPS2.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: Modest reduction in binding to RPS2.
up seq anno comments: N-acetylalanine
up seq anno comments: Removed
up seq anno comments: Zinc finger protein 277
up seq anno feature ids: PRO_0000047503
up seq anno feature ids: VAR_035574
up seq anno feature ids: VAR_035575
up seq anno feature ids: VAR_057415
up seq anno feature ids: VAR_059908

9606:B3GNT8
gene id: 9606:B3GNT8
uniprot id: Q7Z7M8
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 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: 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 enzymatic activity, no loss of B3GNT2-binding and activation.
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Pro residues
up seq anno comments: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8
up seq anno feature ids: PRO_0000306381
up seq anno feature ids: VAR_049348

9606:NAT1
gene id: 9606:NAT1
uniprot id: P18440
uniprot id: Q400J6
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: Secondary Structure
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: 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:SHISAL2B
gene id: 9606:SHISAL2B
uniprot id: A6NKW6
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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: Protein shisa-like-2B
up seq anno feature ids: PRO_0000317723
up seq anno feature ids: VAR_053995
up seq anno feature ids: VAR_053996

9606:GRB10
gene id: 9606:GRB10
uniprot id: Q13322
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: Secondary Structure
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: 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: 2-fold loss of inositide-binding.
up seq anno comments: 5-fold loss of inositide-binding.
up seq anno comments: Growth factor receptor-bound protein 10
up seq anno comments: Impairs YWHAE-binding.
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: Loss of phosphorylation.
up seq anno comments: No effect on NEDD4-binding. No effect on the disruption of the interaction between INSR and IRS1 and IRS2.
up seq anno comments: No effect on NEDD4-binding; when associated with A-136 and A-139.
up seq anno comments: No effect on NEDD4-binding; when associated with A-136 and A-141.
up seq anno comments: No effect on NEDD4-binding; when associated with A-139 and A-141.
up seq anno comments: No effect on YWHAE-binding.
up seq anno comments: No effect on phosphorylation.
up seq anno comments: No net loss of phosphorylation, this may be due to a compensatory phosphorylation of T-422 in vitro.
up seq anno comments: PH
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by MAPK1 and MAPK3; in vitro
up seq anno comments: Phosphoserine; by MTOR and PKB/AKT1
up seq anno comments: Phosphoserine; by MTOR, MAPK1 and MAPK3
up seq anno comments: Phosphotyrosine; by TEC
up seq anno comments: Polar residues
up seq anno comments: Ras-associating
up seq anno comments: SH2
up seq anno feature ids: PRO_0000150346
up seq anno feature ids: VAR_053112
up seq anno feature ids: VAR_053113
up seq anno feature ids: VAR_062864
up seq anno feature ids: VSP_001842
up seq anno feature ids: VSP_001843
up seq anno feature ids: VSP_038784

9606:BRD2
gene id: 9606:BRD2
uniprot id: A0A024RCR5
uniprot id: A0A1U9X7A8
uniprot id: P25440
uniprot id: X5CF57
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: Secondary Structure
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: 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: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Bromo
up seq anno comments: Bromo 1
up seq anno comments: Bromo 2
up seq anno comments: Bromodomain-containing protein 2
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: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Loss of homodimerization.
up seq anno comments: N-acetylmethionine
up seq anno comments: NET
up seq anno comments: Nuclear localization signal
up seq anno comments: Partial loss of homodimerization; when associated with A-154.
up seq anno comments: Partial loss of homodimerization; when associated with A-182.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000211180
up seq anno feature ids: VAR_022132
up seq anno feature ids: VAR_029300
up seq anno feature ids: VAR_029301
up seq anno feature ids: VAR_041904
up seq anno feature ids: VAR_041905
up seq anno feature ids: VAR_041906
up seq anno feature ids: VAR_041907
up seq anno feature ids: VAR_041908
up seq anno feature ids: VAR_041909
up seq anno feature ids: VAR_041910
up seq anno feature ids: VAR_041911
up seq anno feature ids: VAR_041912
up seq anno feature ids: VSP_022600
up seq anno feature ids: VSP_055028
up seq anno feature ids: VSP_055029

9606:TRH
gene id: 9606:TRH
uniprot id: P20396
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Peptide
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Basic and acidic residues
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:PLEKHH1
gene id: 9606:PLEKHH1
uniprot id: Q9ULM0
up 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 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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: FERM
up seq anno comments: In isoform 2.
up seq anno comments: MyTH4
up seq anno comments: PH 1
up seq anno comments: PH 2
up seq anno comments: Phosphoserine
up seq anno comments: Pleckstrin homology domain-containing family H member 1
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000310948
up seq anno feature ids: VAR_037094
up seq anno feature ids: VAR_037095
up seq anno feature ids: VAR_037096
up seq anno feature ids: VAR_037097
up seq anno feature ids: VAR_037098
up seq anno feature ids: VAR_037099
up seq anno feature ids: VSP_029347
up seq anno feature ids: VSP_029348
up seq anno feature ids: VSP_029349

9606:LSS
gene id: 9606:LSS
uniprot id: B2R694
uniprot id: P48449
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: Secondary Structure
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: 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: In APMR4; changed localization; the protein is present in the ER but is also mislocalized to the cytoplasm.
up seq anno comments: In APMR4; loss of protein expression.
up seq anno comments: In APMR4; unknown pathological significance.
up seq anno comments: In CTRCT44; associated with hypotrichosis; unknown pathological significance.
up seq anno comments: In CTRCT44; loss of lanosterol synthase activity.
up seq anno comments: In HYPT14; changed localization; the protein is present in the ER but is also mislocalized to the cytoplasm.
up seq anno comments: In HYPT14; the protein is present in the ER but also mislocalized to the cytoplasm.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Lanosterol synthase
up seq anno comments: N-acetylthreonine
up seq anno comments: PFTB 1
up seq anno comments: PFTB 2
up seq anno comments: PFTB 3
up seq anno comments: PFTB 4
up seq anno comments: PFTB 5
up seq anno comments: PFTB 6
up seq anno comments: PFTB 7
up seq anno comments: Proton donor
up seq anno comments: Removed
up seq anno comments: SQHop_cyclase_C
up seq anno comments: SQHop_cyclase_N
up seq anno feature ids: PRO_0000072659
up seq anno feature ids: VAR_021522
up seq anno feature ids: VAR_024648
up seq anno feature ids: VAR_052057
up seq anno feature ids: VAR_052058
up seq anno feature ids: VAR_052059
up seq anno feature ids: VAR_075664
up seq anno feature ids: VAR_075665
up seq anno feature ids: VAR_081921
up seq anno feature ids: VAR_081922
up seq anno feature ids: VAR_081923
up seq anno feature ids: VAR_081924
up seq anno feature ids: VAR_081925
up seq anno feature ids: VAR_084019
up seq anno feature ids: VAR_084020
up seq anno feature ids: VAR_084021
up seq anno feature ids: VAR_084022
up seq anno feature ids: VAR_084023
up seq anno feature ids: VAR_084024
up seq anno feature ids: VAR_084025
up seq anno feature ids: VAR_084026
up seq anno feature ids: VAR_084027
up seq anno feature ids: VAR_084028
up seq anno feature ids: VSP_045407
up seq anno feature ids: VSP_046188

9606:CLIC6
gene id: 9606:CLIC6
uniprot id: Q96NY7
up 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 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: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
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: 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: Basic and acidic residues
up seq anno comments: Chloride intracellular channel protein 6
up seq anno comments: GST C-terminal
up seq anno comments: Helical; Note=After insertion into the membrane
up seq anno comments: In isoform A.
up seq anno comments: Phosphoserine
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000144217
up seq anno feature ids: VAR_014139
up seq anno feature ids: VSP_008963

9606:TMEM196
gene id: 9606:TMEM196
uniprot id: Q5HYL7
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 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 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Transmembrane protein 196
up seq anno feature ids: PRO_0000317256
up seq anno feature ids: VSP_030928
up seq anno feature ids: VSP_030929
up seq anno feature ids: VSP_039208

9606:PRKAR2A
gene id: 9606:PRKAR2A
uniprot id: A0A024R2W3
uniprot id: A0A0S2Z472
uniprot id: A8KAH7
uniprot id: P13861
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: Secondary Structure
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: Non-terminal Residue
up seq anno labels: Splice Variant
up seq anno comments: Cyclic nucleotide-binding
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: Phosphothreonine
up seq anno comments: Phosphothreonine; by PDPK1
up seq anno comments: Removed
up seq anno comments: cAMP-dependent protein kinase type II-alpha regulatory subunit
up seq anno feature ids: PRO_0000205385
up seq anno feature ids: VSP_056821

9606:GNPDA1
gene id: 9606:GNPDA1
uniprot id: P46926
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: Secondary Structure
up seq anno parent labels: Site
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: Mutagenesis Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Decreases catalytic efficiency.
up seq anno comments: Decreases hexamer stability and catalytic efficiency.
up seq anno comments: For ring-opening step
up seq anno comments: Glucosamine-6-phosphate isomerase 1
up seq anno comments: In isoform 2.
up seq anno comments: N6-acetyllysine
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_0000160122
up seq anno feature ids: VSP_057011

9606:NFYC
gene id: 9606:NFYC
uniprot id: Q13952
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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 a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 1, isoform 2, isoform 4, isoform 6 and isoform 7.
up seq anno comments: In isoform 1, isoform 4, isoform 5, isoform 6 and isoform 7.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 6.
up seq anno comments: In isoform 7.
up seq anno comments: Nuclear transcription factor Y subunit gamma
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000218246
up seq anno feature ids: VAR_035702
up seq anno feature ids: VSP_000851
up seq anno feature ids: VSP_000852
up seq anno feature ids: VSP_043348
up seq anno feature ids: VSP_043349
up seq anno feature ids: VSP_046350

9606:JCAD
gene id: 9606:JCAD
uniprot id: Q9P266
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Junctional cadherin 5-associated protein
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000314185
up seq anno feature ids: VAR_037867
up seq anno feature ids: VAR_037868
up seq anno feature ids: VAR_037869
up seq anno feature ids: VAR_037870
up seq anno feature ids: VAR_037871
up seq anno feature ids: VAR_037872

9606:HCN1
gene id: 9606:HCN1
uniprot id: O60741
uniprot id: Q86WJ6
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: Secondary Structure
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: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: INTRAMEM
up seq anno labels: Motif
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: Cyclic nucleotide-binding
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Found in a patient with childhood focal epilepsy; unknown pathological significance.
up seq anno comments: Found in a patient with infantile-onset epilepsy; unknown pathological significance.
up seq anno comments: Found in a patient with intellectual disability and language delay; unknown pathological significance.
up seq anno comments: Found in a patient with sinus bradychardia; unknown pathological significance; affects channel properties as it results in a negative shift in the threshold voltage of activation and slower activation kinetics compared to the wild-type.
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 DEE24; absence of hyperpolarization-activated currents; highly reduced amount of protein at the cell membrane.
up seq anno comments: In DEE24; affects channel gating properties; the half-activation voltage is shifted to the depolarizing direction; significantly faster activation and slower deactivation kinetics than wild-type channel.
up seq anno comments: In DEE24; dominant-negative mutation resulting in gain of channel function.
up seq anno comments: In DEE24; dominant-negative mutation resulting in loss of channel currents.
up seq anno comments: In DEE24; likely benign variant.
up seq anno comments: In DEE24; results in a gain of channel function.
up seq anno comments: In DEE24; results in absence of hyperpolarization-activated currents; reduced amount of protein at the cell membrane.
up seq anno comments: In DEE24; the half-activation voltage is shifted to the depolarizing direction; reduced amount of protein at the cell membrane.
up seq anno comments: In DEE24; unknown pathological significance.
up seq anno comments: In GEFSP10; affects channel gating properties as the half-activation voltage is shifted to the depolarizing direction; reduced amount of protein at the cell membrane.
up seq anno comments: In GEFSP10; affects channel gating properties as the half-activation voltage is shifted to the hyperpolarizing direction.
up seq anno comments: In GEFSP10; decreased current densities; half-activation voltage is slightly shifted to the hyperpolarizing direction.
up seq anno comments: In GEFSP10; decreased current density; voltage-dependence of activation as well as the activation and deactivation kinetics are not altered.
up seq anno comments: In GEFSP10; results in a depolarizing shift of the half-activation voltage and faster activation kinetics.
up seq anno comments: In GEFSP10; significantly decreased current densities.
up seq anno comments: In GEFSP10; unknown pathological significance.
up seq anno comments: In GEFSP10; unknown pathological significance; reduced current density; affects channel gating properties as the half-activation voltage is shifted to the depolarizing direction; neurons expressing mutant channels show increased excitability.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: Pore-forming; Name=Segment H5
up seq anno comments: Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1
up seq anno comments: Pro residues
up seq anno comments: Selectivity filter
up seq anno feature ids: PRO_0000054107
up seq anno feature ids: VAR_061105
up seq anno feature ids: VAR_071825
up seq anno feature ids: VAR_071826
up seq anno feature ids: VAR_071827
up seq anno feature ids: VAR_071828
up seq anno feature ids: VAR_071829
up seq anno feature ids: VAR_071830
up seq anno feature ids: VAR_078216
up seq anno feature ids: VAR_078217
up seq anno feature ids: VAR_082653
up seq anno feature ids: VAR_082654
up seq anno feature ids: VAR_082655
up seq anno feature ids: VAR_082656
up seq anno feature ids: VAR_082657
up seq anno feature ids: VAR_082658
up seq anno feature ids: VAR_082659
up seq anno feature ids: VAR_082660
up seq anno feature ids: VAR_082661

9606:DHX40
gene id: 9606:DHX40
uniprot id: B4DR88
uniprot id: Q8IX18
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: 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: Motif
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
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: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Probable ATP-dependent RNA helicase DHX40
up seq anno feature ids: PRO_0000252395
up seq anno feature ids: VSP_020932
up seq anno feature ids: VSP_020933
up seq anno feature ids: VSP_020934
up seq anno feature ids: VSP_020935
up seq anno feature ids: VSP_046973

9606:KDM3B
gene id: 9606:KDM3B
uniprot id: Q7LBC6
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: Secondary Structure
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: Helix
up seq anno labels: Initiator Methionine
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 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: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In DIJOS.
up seq anno comments: In DIJOS; 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: LXXLL motif
up seq anno comments: Lysine-specific demethylase 3B
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: Removed
up seq anno feature ids: PRO_0000234373
up seq anno feature ids: VAR_026221
up seq anno feature ids: VAR_026222
up seq anno feature ids: VAR_083997
up seq anno feature ids: VAR_083998
up seq anno feature ids: VAR_083999
up seq anno feature ids: VAR_084000
up seq anno feature ids: VAR_084001
up seq anno feature ids: VAR_084002
up seq anno feature ids: VAR_084003
up seq anno feature ids: VAR_084004
up seq anno feature ids: VAR_084005
up seq anno feature ids: VAR_084006
up seq anno feature ids: VAR_084007
up seq anno feature ids: VAR_084008
up seq anno feature ids: VAR_084009
up seq anno feature ids: VAR_084010
up seq anno feature ids: VSP_018298
up seq anno feature ids: VSP_018299
up seq anno feature ids: VSP_018300

9606:SUGT1
gene id: 9606:SUGT1
uniprot id: A8K7W3
uniprot id: B4DYC6
uniprot id: Q9Y2Z0
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: Secondary Structure
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 Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: CS
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: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Protein SGT1 homolog
up seq anno comments: Removed
up seq anno comments: SGS
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 feature ids: PRO_0000106332
up seq anno feature ids: VSP_013420

9606:CTRC
gene id: 9606:CTRC
uniprot id: Q99895
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: Secondary Structure
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: 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: Strand
up seq anno labels: Turn
up seq anno comments: Activation peptide
up seq anno comments: Charge relay system
up seq anno comments: Chymotrypsin-C
up seq anno comments: Found in a patient with chronic pancreatitis; unknown pathological significance.
up seq anno comments: Found in a patient with chronic pancreatitis; unknown pathological significance; catalytic activity comparable to that of wild type.
up seq anno comments: Found in a patient with chronic pancreatitis; unknown pathological significance; catalytic activity comparable to that of wild type; the mutant undergoes proteolytic degradation during trypsin-mediated activation.
up seq anno comments: Found in a patient with chronic pancreatitis; unknown pathological significance; mutant protein secretion, activity and trypsin-mediated degradation are comparable to those of wild-type.
up seq anno comments: Found in a patient with chronic pancreatitis; unknown pathological significance; the mutant is not secreted.
up seq anno comments: Found in patients with chronic pancreatitis; unknown pathological significance.
up seq anno comments: In PCTT; associated with disease susceptibility; highly reduced catalytic efficiency.
up seq anno comments: In PCTT; associated with disease susceptibility; impaired catalytic activity.
up seq anno comments: In PCTT; associated with disease susceptibility; results in altered enzyme specificity and loss of activity.
up seq anno comments: In PCTT; associated with disease susceptibility; results in reduced protein secretion and loss of activity.
up seq anno comments: In PCTT; associated with susceptibility to disease; reduced protein secretion; impaired catalytic activity.
up seq anno comments: In PCTT; associated with susceptibility to disease; results in markedly reduced protein secretion and loss of activity.
up seq anno comments: In PCTT; associated with susceptibility to disease; results in markedly reduced protein secretion.
up seq anno comments: In PCTT; associated with susceptibility to disease; results in reduced secretion; normal activity; the mutant undergoes proteolytic degradation during trypsin-mediated activation.
up seq anno comments: In PCTT; associated with susceptibility to disease; slightly reduced activity.
up seq anno comments: In PCTT; associated with susceptibility to disease; the mutant is not secreted.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Peptidase S1
up seq anno comments: Rare variant that may be associated with susceptibility to pancreatitis; results in markedly reduced protein secretion.
up seq anno comments: Rare variant; found in a patient with chronic pancreatitis; unknown pathological significance.
up seq anno comments: Rare variant; results in impaired protein secretion.
up seq anno comments: Rare variant; results in normal secretion and activity.
up seq anno feature ids: PRO_0000027713
up seq anno feature ids: PRO_0000027714
up seq anno feature ids: VAR_010928
up seq anno feature ids: VAR_043516
up seq anno feature ids: VAR_043517
up seq anno feature ids: VAR_043518
up seq anno feature ids: VAR_043519
up seq anno feature ids: VAR_043520
up seq anno feature ids: VAR_043521
up seq anno feature ids: VAR_043522
up seq anno feature ids: VAR_043523
up seq anno feature ids: VAR_043524
up seq anno feature ids: VAR_043525
up seq anno feature ids: VAR_043526
up seq anno feature ids: VAR_043527
up seq anno feature ids: VAR_043528
up seq anno feature ids: VAR_043529
up seq anno feature ids: VAR_043530
up seq anno feature ids: VAR_070520
up seq anno feature ids: VAR_070521
up seq anno feature ids: VAR_070522
up seq anno feature ids: VAR_070523
up seq anno feature ids: VAR_070524
up seq anno feature ids: VAR_070525
up seq anno feature ids: VAR_070526
up seq anno feature ids: VAR_070527
up seq anno feature ids: VAR_070528
up seq anno feature ids: VAR_070529
up seq anno feature ids: VAR_070530
up seq anno feature ids: VAR_070531
up seq anno feature ids: VAR_070532
up seq anno feature ids: VAR_070533
up seq anno feature ids: VAR_070534
up seq anno feature ids: VAR_070535

9606:POTEB2
gene id: 9606:POTEB2
uniprot id: H3BUK9
uniprot id: Q495V5
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: Repeat
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: Basic and acidic residues
up seq anno comments: POTE ankyrin domain family member B2
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000423303

9606:PNPLA2
gene id: 9606:PNPLA2
uniprot id: Q96AD5
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: Site
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: Glycosylation Site
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: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Abolished ubiquitination by PEX2.
up seq anno comments: Cytoplasmic
up seq anno comments: DGA/G
up seq anno comments: Extracellular
up seq anno comments: GXGXXG
up seq anno comments: GXSXG
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 NLSDM.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Nucleophile
up seq anno comments: PNPLA
up seq anno comments: Patatin-like phospholipase domain-containing protein 2
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PKA and FAM20C
up seq anno comments: Phosphoserine; in vitro
up seq anno comments: Proton acceptor
up seq anno comments: Reduces rate of lipid hydrolysis; does not affect the localization around the rim of the adiposomes.
up seq anno feature ids: PRO_0000292527
up seq anno feature ids: VAR_032995
up seq anno feature ids: VAR_032996
up seq anno feature ids: VAR_032997
up seq anno feature ids: VAR_032998
up seq anno feature ids: VSP_026421

9606:CCNB1
gene id: 9606:CCNB1
uniprot id: P14635
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: Secondary Structure
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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
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: 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:KRTAP9-3
gene id: 9606:KRTAP9-3
uniprot id: Q9BYQ3
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
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: 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 9-3
up seq anno feature ids: PRO_0000185189

9606:CPD
gene id: 9606:CPD
uniprot id: O75976
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: Secondary Structure
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: Lipid Binding
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: Carboxypeptidase D
up seq anno comments: Cell attachment site
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: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Proton donor/acceptor
up seq anno comments: S-palmitoyl cysteine
up seq anno feature ids: PRO_0000004401
up seq anno feature ids: VAR_027771
up seq anno feature ids: VAR_027772
up seq anno feature ids: VAR_027773
up seq anno feature ids: VAR_027774
up seq anno feature ids: VSP_045833
up seq anno feature ids: VSP_045834

9606:ABI3
gene id: 9606:ABI3
uniprot id: Q9P2A4
up 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 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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: ABI gene family member 3
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Pro residues
up seq anno comments: SH3
up seq anno feature ids: PRO_0000191792
up seq anno feature ids: VAR_022030
up seq anno feature ids: VAR_060243
up seq anno feature ids: VAR_060993
up seq anno feature ids: VSP_041467

9606:LRCOL1
gene id: 9606:LRCOL1
uniprot id: A6NCL2
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
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: Leucine-rich colipase-like protein 1
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000346758

9606:FHL3
gene id: 9606:FHL3
uniprot id: Q13643
uniprot id: Q96C98
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 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: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: C4-type
up seq anno comments: Four and a half LIM domains protein 3
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: N-acetylserine
up seq anno comments: N6-acetyllysine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000075740

9606:CABLES1
gene id: 9606:CABLES1
uniprot id: A0A024RC20
uniprot id: A7K6Y5
uniprot id: Q8TDN4
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 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: 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: 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: 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:STK32B
gene id: 9606:STK32B
uniprot id: B2R9M8
uniprot id: Q9NY57
up 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 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: Splice Variant
up seq anno comments: In a metastatic melanoma sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Serine/threonine-protein kinase 32B
up seq anno feature ids: PRO_0000232413
up seq anno feature ids: VAR_025899
up seq anno feature ids: VAR_041166
up seq anno feature ids: VAR_041167
up seq anno feature ids: VAR_041168
up seq anno feature ids: VAR_041169
up seq anno feature ids: VSP_051997

9606:TTF2
gene id: 9606:TTF2
uniprot id: Q9UNY4
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: 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: 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: 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:OR2Y1
gene id: 9606:OR2Y1
uniprot id: Q8NGV0
up 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 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 2Y1
up seq anno feature ids: PRO_0000150513
up seq anno feature ids: VAR_034186
up seq anno feature ids: VAR_053162
up seq anno feature ids: VAR_053163

9606:DNAJB14
gene id: 9606:DNAJB14
uniprot id: A0A024RDI9
uniprot id: A0A087WWX2
uniprot id: Q8TBM8
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 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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Abolishes interaction with HSPA8/Hsc70.
up seq anno comments: Cytoplasmic
up seq anno comments: DnaJ homolog subfamily B member 14
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: J
up seq anno comments: Lumenal
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000281478
up seq anno feature ids: VSP_024006
up seq anno feature ids: VSP_024007

9606:ZNF584
gene id: 9606:ZNF584
uniprot id: B4DQS1
uniprot id: F6W0P0
uniprot id: Q8IVC4
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: 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 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: KRAB
up seq anno comments: Zinc finger protein 584
up seq anno feature ids: PRO_0000047676
up seq anno feature ids: VAR_033579
up seq anno feature ids: VAR_033580

9606:NNMT
gene id: 9606:NNMT
uniprot id: P40261
uniprot id: Q6FH49
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: Secondary Structure
up seq anno parent labels: 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: Strand
up seq anno labels: Turn
up seq anno comments: Citrulline; alternate
up seq anno comments: Decreases N-methyltransferase activity.
up seq anno comments: Has no effect on N-methyltransferase activity.
up seq anno comments: Loss of N-methyltransferase activity like its citrullinated counterpart.
up seq anno comments: Loss of N-methyltransferase activity.
up seq anno comments: N6-acetyllysine
up seq anno comments: Nicotinamide N-methyltransferase
up seq anno feature ids: PRO_0000159706

9606:TMEM270
gene id: 9606:TMEM270
uniprot id: Q6UE05
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
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: Polar residues
up seq anno comments: Transmembrane protein 270
up seq anno feature ids: PRO_0000308415
up seq anno feature ids: VAR_036813
up seq anno feature ids: VAR_036814
up seq anno feature ids: VAR_036815
up seq anno feature ids: VAR_061720
up seq anno feature ids: VSP_039997
up seq anno feature ids: VSP_039998

9606:HEXA
gene id: 9606:HEXA
uniprot id: A0A0S2Z3W3
uniprot id: B4DVA7
uniprot id: H3BP20
uniprot id: P06865
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: Secondary Structure
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: 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: 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 subunit alpha
up seq anno comments: Glyco_hydro_20
up seq anno comments: Glycohydro_20b2
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
up seq anno feature ids: VAR_003208
up seq anno feature ids: VAR_003209
up seq anno feature ids: VAR_003210
up seq anno feature ids: VAR_003211
up seq anno feature ids: VAR_003212
up seq anno feature ids: VAR_003213
up seq anno feature ids: VAR_003214
up seq anno feature ids: VAR_003215
up seq anno feature ids: VAR_003216
up seq anno feature ids: VAR_003217
up seq anno feature ids: VAR_003218
up seq anno feature ids: VAR_003219
up seq anno feature ids: VAR_003220
up seq anno feature ids: VAR_003221
up seq anno feature ids: VAR_003222
up seq anno feature ids: VAR_003223
up seq anno feature ids: VAR_003224

9606:USP40
gene id: 9606:USP40
uniprot id: Q9NVE5
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: 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: 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: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Nucleophile
up seq anno comments: Proton acceptor
up seq anno comments: USP
up seq anno comments: Ubiquitin carboxyl-terminal hydrolase 40
up seq anno feature ids: PRO_0000080670
up seq anno feature ids: VAR_017123
up seq anno feature ids: VAR_017124
up seq anno feature ids: VAR_059753
up seq anno feature ids: VSP_008595
up seq anno feature ids: VSP_008596
up seq anno feature ids: VSP_012819
up seq anno feature ids: VSP_040938

9606:ATP4B
gene id: 9606:ATP4B
uniprot id: P51164
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: 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; Signal-anchor for type II membrane protein
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Potassium-transporting ATPase subunit beta
up seq anno feature ids: PRO_0000219091

9606:GP2
gene id: 9606:GP2
uniprot id: B7Z1G2
uniprot id: P55259
uniprot id: Q68D34
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: Secondary Structure
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 Conflict
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: EGF-like
up seq anno comments: GPI-anchor amidated asparagine
up seq anno comments: Helical
up seq anno comments: Impaired interaction with fimH.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform Alpha.
up seq anno comments: In isoform Beta.
up seq anno comments: N-linked (GlcNAc...) (high mannose) asparagine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Pancreatic secretory granule membrane major glycoprotein GP2
up seq anno comments: Removed in mature form
up seq anno comments: ZP
up seq anno feature ids: PRO_0000041657
up seq anno feature ids: PRO_0000041658
up seq anno feature ids: PRO_5004269537
up seq anno feature ids: VSP_006948
up seq anno feature ids: VSP_035749
up seq anno feature ids: VSP_035750

9606:BZW1
gene id: 9606:BZW1
uniprot id: Q3LIC9
uniprot id: Q7L1Q6
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 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: Splice Variant
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-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno comments: W2
up seq anno comments: eIF5-mimic protein 2
up seq anno feature ids: PRO_0000254609
up seq anno feature ids: VSP_021266
up seq anno feature ids: VSP_043568
up seq anno feature ids: VSP_043569

9606:LDHAL6B
gene id: 9606:LDHAL6B
uniprot id: A0A140VJM9
uniprot id: Q9BYZ2
up 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 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: Ldh_1_C
up seq anno comments: Ldh_1_N
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:RBP2
gene id: 9606:RBP2
uniprot id: P50120
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Secondary Structure
up seq anno parent labels: 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: Strand
up seq anno labels: Turn
up seq anno comments: Retinol-binding protein 2
up seq anno feature ids: PRO_0000067395

9606:HHLA2
gene id: 9606:HHLA2
uniprot id: C9J7D0
uniprot id: Q9UM44
up 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 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 labels: Transmembrane
up seq anno comments: HERV-H LTR-associating protein 2
up seq anno comments: Helical
up seq anno comments: Ig-like
up seq anno comments: Ig-like C1-type
up seq anno comments: Ig-like V-type 1
up seq anno comments: Ig-like V-type 2
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000249709
up seq anno feature ids: PRO_5002997139
up seq anno feature ids: VAR_027487
up seq anno feature ids: VAR_027488
up seq anno feature ids: VAR_027489
up seq anno feature ids: VSP_054729

9606:OR1N2
gene id: 9606:OR1N2
uniprot id: A0A126GW94
uniprot id: Q8NGR9
up 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 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_RECEP_F1_2
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 1N2
up seq anno feature ids: PRO_0000150449
up seq anno feature ids: VAR_048028
up seq anno feature ids: VAR_048029
up seq anno feature ids: VAR_048030
up seq anno feature ids: VAR_062012

9606:INSIG1
gene id: 9606:INSIG1
uniprot id: A0A024RD68
uniprot id: A4D2M9
uniprot id: F5H6P3
uniprot id: O15503
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 labels: Chain
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: 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: Abolished phosphorylation by PCK1, does not affect oxysterol-binding, does not affect the interaction with SCAP.
up seq anno comments: Cytoplasmic
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
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: In isoform 2.
up seq anno comments: Insulin-induced gene 1 protein
up seq anno comments: KxHxx
up seq anno comments: Loss of ability to suppress the cleavage of SREBP2 and to accelerate the degradation of HMGCR.
up seq anno comments: Loss of ubiquitination and degradation.
up seq anno comments: Lumenal
up seq anno comments: Phosphomimetic mutant, reduced binding to oxysterol.
up seq anno comments: Phosphoserine; by PCK1
up seq anno feature ids: PRO_0000191675
up seq anno feature ids: VAR_027683
up seq anno feature ids: VSP_045084
up seq anno feature ids: VSP_045085

9606:LRP1B
gene id: 9606:LRP1B
uniprot id: Q9NZR2
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 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
up seq anno comments: LDL-receptor class A 31
up seq anno comments: LDL-receptor class A 32
up seq anno comments: LDL-receptor class A 4
up seq anno comments: LDL-receptor class A 5
up seq anno comments: LDL-receptor class A 6
up seq anno comments: LDL-receptor class A 7
up seq anno comments: LDL-receptor class A 8
up seq anno comments: LDL-receptor class A 9
up seq anno comments: LDL-receptor class B 1
up seq anno comments: LDL-receptor class B 10
up seq anno comments: LDL-receptor class B 11

9606:RPTOR
gene id: 9606:RPTOR
uniprot id: Q6DKI0
uniprot id: Q8N122
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: Secondary Structure
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: 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: Abolishes AMPK-mediated phosphorylation; when associated with A-722.
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: In isoform 2.
up seq anno comments: In isoform 3.
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 and MTOR
up seq anno comments: Phosphoserine; by MTOR
up seq anno comments: Phosphoserine; by RPS6KA1
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by MAPK8
up seq anno comments: Polar residues
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
up seq anno feature ids: VSP_010174
up seq anno feature ids: VSP_054042

9606:SNRPC
gene id: 9606:SNRPC
uniprot id: P09234
uniprot id: Q5TAL4
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 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: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Abolishes the binding to U1 snRNP.
up seq anno comments: Matrin-type
up seq anno comments: N6-acetyllysine
up seq anno comments: No effect.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Pro residues
up seq anno comments: U1 small nuclear ribonucleoprotein C
up seq anno feature ids: PRO_0000097525

9606:DEFB103A
gene id: 9606:DEFB103A
uniprot id: A0A894JZ42
uniprot id: P81534
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: Secondary Structure
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:FAM161B
gene id: 9606:FAM161B
uniprot id: Q96MY7
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 labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased 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: In isoform 2.
up seq anno comments: Polar residues
up seq anno comments: Protein FAM161B
up seq anno feature ids: PRO_0000089890
up seq anno feature ids: VAR_027963
up seq anno feature ids: VAR_027964
up seq anno feature ids: VAR_069168
up seq anno feature ids: VSP_046328

9606:SERP1
gene id: 9606:SERP1
uniprot id: Q9Y6X1
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
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; Anchor for type IV membrane protein
up seq anno comments: Stress-associated endoplasmic reticulum protein 1
up seq anno feature ids: PRO_0000274794

9606:BNIP3
gene id: 9606:BNIP3
uniprot id: Q12983
uniprot id: Q6NVY4
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 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: Non-terminal Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Transmembrane
up seq anno comments: BCL2/adenovirus E1B 19 kDa protein-interacting protein 3
up seq anno comments: BH3
up seq anno comments: Basic and acidic residues
up seq anno comments: Helical
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000064964

9606:LAD1
gene id: 9606:LAD1
uniprot id: O00515
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Ladinin-1
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: SEK 1
up seq anno comments: SEK 2
up seq anno comments: SEK 3
up seq anno comments: SEK 4
up seq anno comments: SEK 5
up seq anno comments: SEK 6
up seq anno comments: SEK 7
up seq anno comments: SEK 8
up seq anno feature ids: PRO_0000084349
up seq anno feature ids: VAR_046539
up seq anno feature ids: VAR_046540
up seq anno feature ids: VAR_046541
up seq anno feature ids: VAR_046542
up seq anno feature ids: VAR_046543
up seq anno feature ids: VAR_046544

9606:CHTOP
gene id: 9606:CHTOP
uniprot id: Q9Y3Y2
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 labels: Chain
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: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Chromatin target of PRMT1 protein
up seq anno comments: GAR motif; involved in 5hmC 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: Loss of 5hmc binding; when associated with A-195; A-197; A-199 and A-201.
up seq anno comments: Loss of 5hmc binding; when associated with A-195; A-197; A-199 and A-203.
up seq anno comments: Loss of 5hmc binding; when associated with A-195; A-197; A-201 and A-203.
up seq anno comments: Loss of 5hmc binding; when associated with A-195; A-199; A-201 and A-203.
up seq anno comments: Loss of 5hmc binding; when associated with A-197; A-199; A-201 and A-203.
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000089263
up seq anno feature ids: VSP_017277
up seq anno feature ids: VSP_040496

9606:PPL
gene id: 9606:PPL
uniprot id: O60437
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: Secondary Structure
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: 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: Periplakin
up seq anno comments: Phosphoserine
up seq anno comments: Plectin 1
up seq anno comments: Plectin 2
up seq anno comments: SH3
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_0000078149
up seq anno feature ids: VAR_055125
up seq anno feature ids: VAR_055126
up seq anno feature ids: VAR_055127
up seq anno feature ids: VAR_055128
up seq anno feature ids: VAR_055129
up seq anno feature ids: VAR_055130
up seq anno feature ids: VAR_055131
up seq anno feature ids: VAR_055132
up seq anno feature ids: VAR_055133
up seq anno feature ids: VAR_055134

9606:ZNF879
gene id: 9606:ZNF879
uniprot id: B4DU55
up seq anno parent labels: Experimental Information
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: 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 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: KRAB
up seq anno comments: Zinc finger protein 879
up seq anno feature ids: PRO_0000393967

9606:MAPT
gene id: 9606:MAPT
uniprot id: A0A024R9Y0
uniprot id: A0A024R9Y1
uniprot id: A0A024RA17
uniprot id: A0A024RA19
uniprot id: B3KTM0
uniprot id: P10636
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: Secondary Structure
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: Initiator Methionine
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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 50% Decrease in microtubule-binding after in vitro phosphorylation of mutant protein.
up seq anno comments: 70% decrease in microtubule-binding after in vitro phosphorylation of mutant protein.
up seq anno comments: 8% decrease in microtubule-binding after in vitro phosphorylation of mutant protein.
up seq anno comments: Basic and acidic residues
up seq anno comments: Deamidated asparagine; in tau and PHF-tau; partial
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: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); in PHF-tau
up seq anno comments: In FTD and CBD; reduction in the ability to promote microtubule assembly.
up seq anno comments: In FTD.
up seq anno comments: In FTD/Alzheimer disease; accelerates aggregation of tau into filaments; reduces tau phosphorylation in cells compared to both the wild-type and other mutant forms.
up seq anno comments: In FTD; increased aggregation propensity and altered binding affinity towards microtubules and F-actin.
up seq anno comments: In FTD; less able to promote microtubule assembly than wild-type tau.
up seq anno comments: In FTD; minimal parkinsonism; very early age of onset.
up seq anno comments: In FTD; most common mutation; reduction in the ability to promote microtubule assembly; accelerates aggregation of tau into filaments.
up seq anno comments: In FTD; reduced the ability of tau to promote microtubule assembly without having a significant effect on tau filament formation; effects at both the RNA and the protein level.
up seq anno comments: In FTD; reduces the ability of tau to promote microtubule assembly and promotes fibril formation in vitro.
up seq anno comments: In FTD; ultrastructural and biochemical characteristics indistinguishable from Alzheimer disease; accelerates aggregation of tau into filaments.
up seq anno comments: In FTD; with parkinsonism.
up seq anno comments: In PIDB; 90% reduction in the rate of microtubule assembly.
up seq anno comments: In PIDB; in vitro the mutation reduces the ability of tau to promote microtubule assembly by 25 to 30%.
up seq anno comments: In PIDB; markedly reduced ability of tau to promote microtubule assembly.
up seq anno comments: In PIDB; reduces the ability to promote microtubule assembly by 70%.
up seq anno comments: In PSNP1.
up seq anno comments: In PSNP1/atypical PSNP1; heterozygosity may be a risk factor for both a PSNP1-like syndrome and Parkinson disease; reduced the ability of tau to promote microtubule assembly without having a significant effect on tau filament formation; effects at both the RNA and the protein level.
up seq anno comments: In PSNP1; delays assembly initiation and lowers the mass of microtubules formed; but the assembly rate is increased compared to normal tau.
up seq anno comments: In fatal respiratory hypoventilation; unusual apparent autosomal recessive inheritance; reduced binding to microtubules as well as increased fibrillization and aggregation.
up seq anno comments: In isoform Tau-A, isoform Tau-B, isoform Tau-C and isoform Fetal-tau.
up seq anno comments: In isoform Tau-A, isoform Tau-B, isoform Tau-C, isoform Tau-D, isoform Tau-E, isoform Tau-F and isoform Fetal-tau.
up seq anno comments: In isoform Tau-A, isoform Tau-B, isoform Tau-D, isoform Tau-E and isoform Fetal-tau.
up seq anno comments: In isoform Tau-A, isoform Tau-D and isoform Fetal-tau.
up seq anno comments: In isoform Tau-A.
up seq anno comments: In isoform Tau-G.
up seq anno comments: Microtubule-associated protein tau
up seq anno comments: N-acetylalanine
up seq anno comments: N-linked (Glc) (glycation) lysine; in PHF-tau; in vitro
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-methyllysine; alternate
up seq anno comments: No association with plasma membrane.
up seq anno comments: No decrease in microtubule-binding and nucleation activity after in vitro phosphorylation of mutant protein.
up seq anno comments: O-linked (GlcNAc) serine
up seq anno comments: O-linked (GlcNAc) serine; alternate
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; alternate
up seq anno comments: Phosphoserine; by CK1 and PDPK1
up seq anno comments: Phosphoserine; by CK1, PDPK1 and TTBK1
up seq anno comments: Phosphoserine; by CaMK2 and TTBK1
up seq anno comments: Phosphoserine; by MARK1, MARK2, MARK3, MARK4, BRSK1, BRSK2 and PHK
up seq anno comments: Phosphoserine; by PDPK1

9606:GNAT2
gene id: 9606:GNAT2
uniprot id: P19087
uniprot id: Q5T697
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: Secondary Structure
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: Helix
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: ADP-ribosylarginine; by cholera toxin
up seq anno comments: ADP-ribosylcysteine; by pertussis toxin
up seq anno comments: Basic and acidic residues
up seq anno comments: G-alpha
up seq anno comments: Guanine nucleotide-binding protein G(t) subunit alpha-2
up seq anno comments: N-myristoyl glycine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000203740
up seq anno feature ids: VAR_014783
up seq anno feature ids: VAR_047623
up seq anno feature ids: VAR_047624

9606:FABP12
gene id: 9606:FABP12
uniprot id: A6NFH5
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: Fatty acid-binding protein 12
up seq anno feature ids: PRO_0000342881

9606:RGS20
gene id: 9606:RGS20
uniprot id: B3KSW4
uniprot id: H9NIM5
uniprot id: O76081
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Splice Variant
up seq anno comments: In isoform 1, 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: In isoform 5.
up seq anno comments: RGS
up seq anno comments: Regulator of G-protein signaling 20
up seq anno feature ids: PRO_0000204233
up seq anno feature ids: VSP_005694
up seq anno feature ids: VSP_005695
up seq anno feature ids: VSP_005696
up seq anno feature ids: VSP_005697
up seq anno feature ids: VSP_005698
up seq anno feature ids: VSP_005699
up seq anno feature ids: VSP_005700

9606:NEFM
gene id: 9606:NEFM
uniprot id: P07197
uniprot id: Q9UK51
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 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: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal 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 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: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: IF rod
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylserine
up seq anno comments: Neurofilament medium polypeptide
up seq anno comments: O-linked (GlcNAc) threonine
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: Removed
up seq anno feature ids: PRO_0000063794
up seq anno feature ids: VAR_056024
up seq anno feature ids: VAR_060732
up seq anno feature ids: VSP_046306

9606:CALHM2
gene id: 9606:CALHM2
uniprot id: Q9HA72
up 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 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: Transmembrane
up seq anno labels: Turn
up seq anno comments: Calcium homeostasis modulator protein 2
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno feature ids: PRO_0000186720
up seq anno feature ids: VAR_033924
up seq anno feature ids: VAR_053084
up seq anno feature ids: VSP_013853
up seq anno feature ids: VSP_013854
up seq anno feature ids: VSP_013855
up seq anno feature ids: VSP_013856

9606:CECR2
gene id: 9606:CECR2
uniprot id: B7WPH3
uniprot id: Q9BXF3
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: 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: 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
up seq anno comments: Basic and acidic residues
up seq anno comments: Bromo
up seq anno comments: Chromatin remodeling regulator CECR2
up seq anno comments: In isoform B.
up seq anno comments: In isoform C.
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_0000211192
up seq anno feature ids: VAR_027411
up seq anno feature ids: VAR_027412
up seq anno feature ids: VSP_000571
up seq anno feature ids: VSP_000572
up seq anno feature ids: VSP_000573
up seq anno feature ids: VSP_020407

9606:DPPA5
gene id: 9606:DPPA5
uniprot id: A6NC42
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: Developmental pluripotency-associated 5 protein
up seq anno comments: KH; atypical
up seq anno feature ids: PRO_0000311975

9606:NFE2L1
gene id: 9606:NFE2L1
uniprot id: J9JIE5
uniprot id: Q14494
uniprot id: Q8NF22
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 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: Motif
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 comments: BZIP
up seq anno comments: Basic and acidic residues
up seq anno comments: Destruction motif
up seq anno comments: Endoplasmic reticulum membrane sensor NFE2L1
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: Impaired interaction with CEBPB.
up seq anno comments: In isoform 2.
up seq anno comments: In m1; impaired protein cleavage.
up seq anno comments: In m2; impaired protein cleavage.
up seq anno comments: In m3; impaired protein cleavage.
up seq anno comments: In m4; Slightly impaired protein cleavage.
up seq anno comments: In m5; impaired protein cleavage.
up seq anno comments: In m6; Slightly impaired protein cleavage.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine; by CK2
up seq anno comments: Phosphoserine; by PKA
up seq anno comments: Polar residues
up seq anno comments: Transcription factor NRF1
up seq anno comments: bZIP
up seq anno feature ids: PRO_0000076447
up seq anno feature ids: PRO_0000443103
up seq anno feature ids: VAR_048440
up seq anno feature ids: VSP_000579

9606:LDHD
gene id: 9606:LDHD
uniprot id: Q86WU2
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 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: FAD-binding PCMH-type
up seq anno comments: In DLACD; probable enzymatic loss-of-function; contrary to the wild-type protein, unable to restore basal D-lactate levels when tested in knockout zebrafish model.
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; alternate
up seq anno comments: Probable D-lactate dehydrogenase, mitochondrial
up seq anno feature ids: PRO_0000262952
up seq anno feature ids: VAR_029561
up seq anno feature ids: VAR_082214
up seq anno feature ids: VAR_082215
up seq anno feature ids: VSP_052253

9606:H4C4
gene id: 9606:H4C4
uniprot id: B2R4R0
uniprot id: P62805
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: Secondary Structure
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: 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: 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 TEVANED1.
up seq anno comments: In TEVANED1; 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 TEVANED2 and TEVANED3; unknown pathological significance; does not affect early development when expressed in zebrafish embryos.
up seq anno comments: In TEVANED2; results in severe early developmental defects when expressed in zebrafish embryos.
up seq anno comments: In TEVANED3.
up seq anno comments: In TEVANED3; results in early developmental defects when expressed in zebrafish embryos.
up seq anno comments: In TEVANED4; results in early developmental defects when expressed in zebrafish embryos.
up seq anno comments: In TEVANED4; 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: TAF
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
up seq anno feature ids: VAR_086993
up seq anno feature ids: VAR_086994
up seq anno feature ids: VAR_086995
up seq anno feature ids: VAR_086996
up seq anno feature ids: VAR_086997
up seq anno feature ids: VAR_086998
up seq anno feature ids: VAR_086999
up seq anno feature ids: VAR_087000
up seq anno feature ids: VAR_087001
up seq anno feature ids: VAR_087002
up seq anno feature ids: VAR_087003
up seq anno feature ids: VAR_087004
up seq anno feature ids: VAR_087005

9606:CCHCR1
gene id: 9606:CCHCR1
uniprot id: A0A1U9X7G6
uniprot id: Q2TB68
uniprot id: Q769H0
uniprot id: Q8TD31
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 labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased 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 alpha-helical rod protein 1
up seq anno comments: In allele HCR*WWCC; associated with psoriasis.
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_0000089416
up seq anno feature ids: VAR_017761
up seq anno feature ids: VAR_017762
up seq anno feature ids: VAR_017763
up seq anno feature ids: VAR_017764
up seq anno feature ids: VAR_017765
up seq anno feature ids: VAR_017766
up seq anno feature ids: VAR_017767
up seq anno feature ids: VAR_017768
up seq anno feature ids: VAR_017769
up seq anno feature ids: VAR_017770
up seq anno feature ids: VAR_017771
up seq anno feature ids: VAR_017772
up seq anno feature ids: VAR_017782
up seq anno feature ids: VAR_017783
up seq anno feature ids: VAR_017784
up seq anno feature ids: VSP_038062
up seq anno feature ids: VSP_047069

9606:SPACA4
gene id: 9606:SPACA4
uniprot id: A0A140VJU1
uniprot id: Q8TDM5
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: 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 comments: GPI-anchor amidated asparagine
up seq anno comments: Removed in mature form
up seq anno comments: Sperm acrosome membrane-associated protein 4
up seq anno comments: UPAR/Ly6
up seq anno feature ids: PRO_0000252450
up seq anno feature ids: PRO_0000252451
up seq anno feature ids: PRO_5014247029

9606:ITGB3
gene id: 9606:ITGB3
uniprot id: P05106
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: Secondary Structure
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: 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: Associated with neonatal thrombocytopenia; alloantigen Duv(a+); does not affect significantly the integrin function.
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
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 BDPLT24; the mutant protein is constitutively active; decreased platelet surface expression; spontaneous FAK phosphosphorylation; abnormal cell shape.
up seq anno comments: In BDPLT24; the mutant protein is constitutively active; spontaneous FAK phosphosphorylation; abnormal cell shape.
up seq anno comments: In GT2.
up seq anno comments: In GT2; gain-of-function mutation; constitutively binds ligand-induced binding sites antibodies and the fibrinogen-mimetic antibody PAC-1.
up seq anno comments: In GT2; may confer constitutive activity to the alpha-IIb/(mutated)beta-3 receptor.
up seq anno comments: In GT2; not expressed on the surface and absent inside the transfected cells.
up seq anno comments: In GT2; severe type 1 phenotype; the mutation prevented normal ITGA2B/ITGB3 complex expression on the cell surface.
up seq anno comments: In GT2; severe type 1 phenotype; the mutation prevents normal ITGA2B/ITGB3 complex expression on the cell surface; the mutation interupts the interaction of the ITGA2B/ITGB3 complex.
up seq anno comments: In GT2; severe type 1 phenotype; the mutation prevents normal ITGA2B/ITGB3 complex expression on the cell surface; the mutation may interfere with correct folding of the protein.
up seq anno comments: In GT2; severe type 1 phenotype; the mutation prevents normal ITGA2B/ITGB3 complex expression.
up seq anno comments: In GT2; type B.
up seq anno comments: In GT2; type I.
up seq anno comments: In GT2; type II.
up seq anno comments: In GT2; variant Strasbourg-1.
up seq anno comments: In GT2; variant form.
up seq anno comments: In alloantigen CA(+)/TU(+).
up seq anno comments: In alloantigen HPA-1B.
up seq anno comments: In alloantigen HPA-4B.
up seq anno comments: In alloantigen MO(+); in a case of neonatal alloimmune thrombocytopenia.
up seq anno comments: In alloantigen SR(A).
up seq anno comments: In isoform Beta-3B.
up seq anno comments: In isoform Beta-3C.
up seq anno comments: Integrin beta-3
up seq anno comments: LIR
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by PDPK1 and PKB/AKT1; in vitro
up seq anno comments: Phosphotyrosine
up seq anno comments: VWFA
up seq anno feature ids: PRO_0000016344
up seq anno feature ids: VAR_003993
up seq anno feature ids: VAR_003994
up seq anno feature ids: VAR_003995
up seq anno feature ids: VAR_003996
up seq anno feature ids: VAR_003997
up seq anno feature ids: VAR_003998
up seq anno feature ids: VAR_003999
up seq anno feature ids: VAR_004000
up seq anno feature ids: VAR_004001
up seq anno feature ids: VAR_004002
up seq anno feature ids: VAR_004003
up seq anno feature ids: VAR_004004
up seq anno feature ids: VAR_004005
up seq anno feature ids: VAR_010649
up seq anno feature ids: VAR_010651
up seq anno feature ids: VAR_010671
up seq anno feature ids: VAR_010672
up seq anno feature ids: VAR_014178

9606:POLR2J2
gene id: 9606:POLR2J2
uniprot id: Q9GZM3
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: DNA-directed RNA polymerase II subunit RPB11-b1
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000316946
up seq anno feature ids: VAR_070807
up seq anno feature ids: VSP_030820

9606:KDELR3
gene id: 9606:KDELR3
uniprot id: A0A024R1R0
uniprot id: O43731
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 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: ER lumen protein-retaining receptor 3
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Lumenal
up seq anno feature ids: PRO_0000194158
up seq anno feature ids: VAR_014506
up seq anno feature ids: VSP_022856

9606:TM2D2
gene id: 9606:TM2D2
uniprot id: Q9BX73
up 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 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: N-linked (GlcNAc...) asparagine
up seq anno comments: TM2 domain-containing protein 2
up seq anno feature ids: PRO_0000298982
up seq anno feature ids: VSP_027495

9606:INTS8
gene id: 9606:INTS8
uniprot id: Q75QN2
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: Secondary Structure
up seq anno labels: Chain
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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: In NEDCHS; alters the assembly of the Integrator complex.
up seq anno comments: In NEDCHS; occurs in a splice site resulting in altered splicing and probable nonsense-mediated mRNA decay.
up seq anno comments: In isoform 2.
up seq anno comments: Integrator complex subunit 8
up seq anno comments: Phosphothreonine
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_0000259553
up seq anno feature ids: VAR_083358
up seq anno feature ids: VAR_083359
up seq anno feature ids: VSP_021469

9606:VAX1
gene id: 9606:VAX1
uniprot id: Q5SQQ9
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Homeobox
up seq anno comments: In MCOPS11; loss of function mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Pro residues
up seq anno comments: Ventral anterior homeobox 1
up seq anno feature ids: PRO_0000240522
up seq anno feature ids: VAR_067307
up seq anno feature ids: VSP_019396

9606:HMGB2
gene id: 9606:HMGB2
uniprot id: P26583
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Disulfide Bond
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Cysteine sulfonic acid (-SO3H)
up seq anno comments: Cysteine sulfonic acid (-SO3H); alternate
up seq anno comments: HMG box 1
up seq anno comments: HMG box 2
up seq anno comments: High mobility group protein B2
up seq anno comments: In disulfide HMGB2; alternate
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000048534

9606:ADTRP
gene id: 9606:ADTRP
uniprot id: Q96IZ2
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 labels: Chain
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: Androgen-dependent TFPI-regulating protein
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: 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:DPF1
gene id: 9606:DPF1
uniprot id: A0A8I5QL29
uniprot id: C8C3P2
uniprot id: E9PDV3
uniprot id: Q6PJ73
uniprot id: Q92782
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: 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: Non-terminal Residue
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: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 1.
up seq anno comments: In isoform 3.
up seq anno comments: PHD-type
up seq anno comments: PHD-type 1
up seq anno comments: PHD-type 2
up seq anno comments: Zinc finger protein neuro-d4
up seq anno feature ids: PRO_0000168145
up seq anno feature ids: VSP_061234
up seq anno feature ids: VSP_061235
up seq anno feature ids: VSP_061236

9606:RTL8C
gene id: 9606:RTL8C
uniprot id: A6ZKI3
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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:NTRK2
gene id: 9606:NTRK2
uniprot id: A0A024R230
uniprot id: A0A8I5KR47
uniprot id: Q16620
uniprot id: Q548C2
uniprot id: Q5VWE5
up 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: 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: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Modified Residue
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: 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: 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: 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
up seq anno feature ids: PRO_0000016727
up seq anno feature ids: PRO_5004249812
up seq anno feature ids: PRO_5014214206
up seq anno feature ids: PRO_5014310173
up seq anno feature ids: PRO_5035269091
up seq anno feature ids: VAR_011973
up seq anno feature ids: VAR_016320
up seq anno feature ids: VAR_041470
up seq anno feature ids: VAR_046518
up seq anno feature ids: VAR_046519
up seq anno feature ids: VAR_046520
up seq anno feature ids: VAR_049715
up seq anno feature ids: VAR_065890
up seq anno feature ids: VAR_080659
up seq anno feature ids: VAR_080660
up seq anno feature ids: VAR_080661
up seq anno feature ids: VSP_002901
up seq anno feature ids: VSP_002902
up seq anno feature ids: VSP_002903
up seq anno feature ids: VSP_002904
up seq anno feature ids: VSP_041942
up seq anno feature ids: VSP_042177
up seq anno feature ids: VSP_042178

9606:MAP3K13
gene id: 9606:MAP3K13
uniprot id: O43283
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: 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: 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: 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: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: Kinase inactive. Fails to activate NF-kappa-B.
up seq anno comments: Mitogen-activated protein kinase kinase kinase 13
up seq anno comments: Polar residues
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000086264
up seq anno feature ids: VAR_030577
up seq anno feature ids: VAR_040708
up seq anno feature ids: VAR_040709
up seq anno feature ids: VAR_040710
up seq anno feature ids: VAR_051640
up seq anno feature ids: VSP_036562
up seq anno feature ids: VSP_036563
up seq anno feature ids: VSP_036564
up seq anno feature ids: VSP_036565
up seq anno feature ids: VSP_036566
up seq anno feature ids: VSP_036567
up seq anno feature ids: VSP_036568
up seq anno feature ids: VSP_036569

9606:HAGHL
gene id: 9606:HAGHL
uniprot id: B4DED4
uniprot id: Q6PII5
up 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 labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Splice Variant
up seq anno comments: Hydroxyacylglutathione hydrolase-like 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: Lactamase_B
up seq anno feature ids: PRO_0000313601
up seq anno feature ids: VSP_030052
up seq anno feature ids: VSP_030053
up seq anno feature ids: VSP_030054
up seq anno feature ids: VSP_030055
up seq anno feature ids: VSP_030056

9606:LPGAT1
gene id: 9606:LPGAT1
uniprot id: Q92604
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Motif
up seq anno labels: Transmembrane
up seq anno comments: Acyl-CoA:lysophosphatidylglycerol acyltransferase 1
up seq anno comments: HXXXXD motif
up seq anno comments: Helical
up seq anno feature ids: PRO_0000208204

9606:PSMA7
gene id: 9606:PSMA7
uniprot id: A0A0K0K1K4
uniprot id: O14818
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: Secondary Structure
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: 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: Displays impaired G1/S transition and S/G2 progression.
up seq anno comments: Found in patient with severe intellectual disability; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N6-acetyllysine
up seq anno comments: O-linked (GlcNAc) serine
up seq anno comments: PROTEASOME_ALPHA_1
up seq anno comments: Phosphotyrosine; by ABL1 and ABL2
up seq anno comments: Proteasome subunit alpha type-7
up seq anno feature ids: PRO_0000124142
up seq anno feature ids: VAR_078692
up seq anno feature ids: VSP_005281
up seq anno feature ids: VSP_046556
up seq anno feature ids: VSP_046557

9606:RNF181
gene id: 9606:RNF181
uniprot id: Q9P0P0
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
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:FGF8
gene id: 9606:FGF8
uniprot id: A1A515
uniprot id: P55075
up 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 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: Fibroblast growth factor
up seq anno comments: Fibroblast growth factor 8
up seq anno comments: In HH6; phenotype consistent with Kallmann syndrome.
up seq anno comments: In HH6; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism.
up seq anno comments: In HH6; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism; some patients also carry mutations in FGFR1.
up seq anno comments: In isoform FGF-8A.
up seq anno comments: In isoform FGF-8B.
up seq anno comments: In isoform FGF-8F.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000008970
up seq anno feature ids: PRO_5005120926
up seq anno feature ids: VAR_057962
up seq anno feature ids: VAR_057963
up seq anno feature ids: VAR_057964
up seq anno feature ids: VAR_057965
up seq anno feature ids: VAR_057966
up seq anno feature ids: VAR_057967
up seq anno feature ids: VSP_001524
up seq anno feature ids: VSP_001525
up seq anno feature ids: VSP_001526

9606:SDHAF1
gene id: 9606:SDHAF1
uniprot id: A6NFY7
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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 comments: Abolishes interaction with the iron-sulfur transfer complex composed of HSC20, HSPA9 and ISCU and reduces binding to SDHB.
up seq anno comments: Basic and acidic residues
up seq anno comments: In MC2DN2.
up seq anno comments: In MC2DN2; abolishes binding to the iron-sulfur transfer complex formed by HSC20, HSPA9 and ICSU; prevents interaction with SDHB; leads to rapid degradation of SDHAF1.
up seq anno comments: In MC2DN2; rapid degradation of SDHB by the LONP1 protease; increased levels of HIF1A and EPAS1/HIF2A which correlates with succinate accumulation.
up seq anno comments: In MC2DN2; reduces but does not prevent interaction with HSC20 or SDHB.
up seq anno comments: LYR motif 1; required for interaction with HSC20
up seq anno comments: LYR motif 2; not required for interaction with HSC20
up seq anno comments: Retains reduced ability to interact with HSC20 and SDHB.
up seq anno comments: Succinate dehydrogenase assembly factor 1, mitochondrial
up seq anno feature ids: PRO_0000327916
up seq anno feature ids: VAR_058097
up seq anno feature ids: VAR_058098
up seq anno feature ids: VAR_081226
up seq anno feature ids: VAR_081227
up seq anno feature ids: VAR_085405
up seq anno feature ids: VAR_085406

9606:SMARCE1
gene id: 9606:SMARCE1
uniprot id: A0A024R1S7
uniprot id: Q969G3
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: Secondary Structure
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: 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: 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 CSS5.
up seq anno comments: In MNGMA; found in a case of childhood clear cell meningioma; associated with disease susceptibility.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3 and isoform 6.
up seq anno comments: In isoform 4 and isoform 5.
up seq anno comments: In isoform 5 and isoform 6.
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: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1
up seq anno feature ids: PRO_0000048577
up seq anno feature ids: VAR_068215
up seq anno feature ids: VAR_071873
up seq anno feature ids: VAR_076932
up seq anno feature ids: VSP_011801
up seq anno feature ids: VSP_011802
up seq anno feature ids: VSP_047604
up seq anno feature ids: VSP_047825
up seq anno feature ids: VSP_047826

9606:CAPN7
gene id: 9606:CAPN7
uniprot id: Q7Z479
uniprot id: Q9Y6W3
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: Site
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: Strand
up seq anno labels: Turn
up seq anno comments: Calpain catalytic
up seq anno comments: Calpain-7
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000207720

9606:PDE8A
gene id: 9606:PDE8A
uniprot id: A0A024RC53
uniprot id: O60658
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: Secondary Structure
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: 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: Basic and acidic residues
up seq anno comments: High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A
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: Increases sensitivity to several nonselective or family selective PDE inhibitors.
up seq anno comments: PAC
up seq anno comments: PAS
up seq anno comments: PDEase
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PKA
up seq anno comments: Phosphotyrosine
up seq anno comments: Proton donor
up seq anno comments: Reduces interaction with RAF1; when associated with A-454 and A-455.
up seq anno comments: Reduces interaction with RAF1; when associated with A-460 and A-461.
up seq anno feature ids: PRO_0000198838
up seq anno feature ids: VAR_069109
up seq anno feature ids: VSP_004597
up seq anno feature ids: VSP_041674
up seq anno feature ids: VSP_041675
up seq anno feature ids: VSP_041676
up seq anno feature ids: VSP_041677
up seq anno feature ids: VSP_041678
up seq anno feature ids: VSP_041679
up seq anno feature ids: VSP_046017

9606:C1QL4
gene id: 9606:C1QL4
uniprot id: A0A3B0INP7
uniprot id: Q86Z23
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: Signal Peptide
up seq anno comments: C1q
up seq anno comments: Collagen-like
up seq anno comments: Complement C1q-like protein 4
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000274338
up seq anno feature ids: PRO_5035366276

9606:PEBP4
gene id: 9606:PEBP4
uniprot id: Q96S96
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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...) (complex) asparagine
up seq anno comments: Phosphatidylethanolamine-binding protein 4
up seq anno feature ids: PRO_0000023279
up seq anno feature ids: VAR_050467
up seq anno feature ids: VAR_050468

9606:CLDN15
gene id: 9606:CLDN15
uniprot id: P56746
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 labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Claudin-15
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Impairs the charge selectivity for paracellular ion transport, favoring Cl(-) transport.
up seq anno comments: No effect on charge selectivity for paracellular ion transport.
up seq anno comments: Phosphoserine
up seq anno comments: Reverses the charge selectivity for paracellular ion transport, favoring Cl(-) transport.
up seq anno feature ids: PRO_0000144771

9606:LCAT
gene id: 9606:LCAT
uniprot id: A0A140VK24
uniprot id: P04180
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: Secondary Structure
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: 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: Strand
up seq anno labels: Turn
up seq anno comments: Charge relay system
up seq anno comments: Decreased enzyme specific activity. Increased PAPC/POPC activity ratio.
up seq anno comments: Found in a patient with intermediate phenotype between LCATD and FED; reduction of activity.
up seq anno comments: In FED and LCATD.
up seq anno comments: In FED.
up seq anno comments: In FED; loss of activity.
up seq anno comments: In FED; results in reduced activity.
up seq anno comments: In FED; results in reduced protein secretion and activity.
up seq anno comments: In LCATD.
up seq anno comments: In LCATD; also found in a patient with intermediate phenotype between LCATD and FED; loss of activity.
up seq anno comments: In LCATD; partially defective enzyme.
up seq anno comments: In a patient with LCATD.
up seq anno comments: In a patient with low HDL-cholesterol levels; reduced protein secretion.
up seq anno comments: In a patient with low HDL-cholesterol levels; results in reduced activity.
up seq anno comments: In a patient with low HDL-cholesterol levels; the mutant is hardly secreted and is catalytically inactive.
up seq anno comments: Increased activity towards PAPC. Increased PAPC/POPC activity ratio.
up seq anno comments: Little change in enzyme specific activity nor in PAPC/POPC activity ratio.
up seq anno comments: N-linked (GlcNAc...) (complex) asparagine
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: Phosphatidylcholine-sterol acyltransferase
up seq anno feature ids: PRO_0000017802
up seq anno feature ids: PRO_5007491746
up seq anno feature ids: VAR_004251
up seq anno feature ids: VAR_004252
up seq anno feature ids: VAR_004253
up seq anno feature ids: VAR_004254
up seq anno feature ids: VAR_004255
up seq anno feature ids: VAR_004256
up seq anno feature ids: VAR_004257
up seq anno feature ids: VAR_004258
up seq anno feature ids: VAR_004259
up seq anno feature ids: VAR_004260
up seq anno feature ids: VAR_004261
up seq anno feature ids: VAR_004262
up seq anno feature ids: VAR_004263
up seq anno feature ids: VAR_004264
up seq anno feature ids: VAR_004265
up seq anno feature ids: VAR_004266
up seq anno feature ids: VAR_004267
up seq anno feature ids: VAR_017030
up seq anno feature ids: VAR_039020
up seq anno feature ids: VAR_039021
up seq anno feature ids: VAR_039022
up seq anno feature ids: VAR_039023
up seq anno feature ids: VAR_039024
up seq anno feature ids: VAR_039025
up seq anno feature ids: VAR_039026
up seq anno feature ids: VAR_039027
up seq anno feature ids: VAR_039028
up seq anno feature ids: VAR_039029
up seq anno feature ids: VAR_039030
up seq anno feature ids: VAR_039031
up seq anno feature ids: VAR_039032
up seq anno feature ids: VAR_039033
up seq anno feature ids: VAR_039034
up seq anno feature ids: VAR_039035
up seq anno feature ids: VAR_039036
up seq anno feature ids: VAR_039037

9606:ETV5
gene id: 9606:ETV5
uniprot id: P41161
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: Secondary Structure
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: Mass
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: ETS
up seq anno comments: ETS translocation variant 5
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: Pro residues
up seq anno feature ids: PRO_0000204118
up seq anno feature ids: VAR_048951
up seq anno feature ids: VSP_055489

9606:SH3BP5L
gene id: 9606:SH3BP5L
uniprot id: A0A024R0T2
uniprot id: Q7L8J4
up 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 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: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: SH3 domain-binding protein 5-like
up seq anno feature ids: PRO_0000317508
up seq anno feature ids: VSP_056075

9606:PRR18
gene id: 9606:PRR18
uniprot id: Q8N4B5
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno comments: Asymmetric dimethylarginine
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: Proline-rich protein 18
up seq anno feature ids: PRO_0000307747
up seq anno feature ids: VAR_036642

9606:CRACDL
gene id: 9606:CRACDL
uniprot id: Q6NV74
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: CRACD-like protein
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000289161
up seq anno feature ids: VAR_047335

9606:PSMC2
gene id: 9606:PSMC2
uniprot id: A0A140VK70
uniprot id: B7Z571
uniprot id: P35998
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: 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: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: 26S proteasome regulatory subunit 7
up seq anno comments: AAA
up seq anno comments: In isoform 2.
up seq anno comments: N6-acetyllysine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000084709
up seq anno feature ids: VSP_056178

9606:NCAPG
gene id: 9606:NCAPG
uniprot id: Q9BPX3
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: Secondary Structure
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: 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: 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:SYT4
gene id: 9606:SYT4
uniprot id: Q9H2B2
up 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: 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: 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: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine; by MAPK8
up seq anno comments: Synaptotagmin-4
up seq anno comments: Vesicular
up seq anno feature ids: PRO_0000183948
up seq anno feature ids: VAR_052239
up seq anno feature ids: VSP_056643

9606:KDF1
gene id: 9606:KDF1
uniprot id: Q8NAX2
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: In ECTD12; unknown pathological significance.
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: Keratinocyte differentiation factor 1
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000289048
up seq anno feature ids: VAR_032561
up seq anno feature ids: VAR_032562
up seq anno feature ids: VAR_032563
up seq anno feature ids: VAR_035616
up seq anno feature ids: VAR_078070

9606:MMP2
gene id: 9606:MMP2
uniprot id: A0A024R6R4
uniprot id: P08253
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: Secondary Structure
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: Glycosylation Site
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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 72 kDa type IV collagenase
up seq anno comments: Activation peptide
up seq anno comments: Cysteine switch
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-II 3
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 MONA.
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: N-linked (GlcNAc...) asparagine
up seq anno comments: PEX
up seq anno comments: in inhibited form
up seq anno feature ids: PRO_0000028714
up seq anno feature ids: PRO_0000028715
up seq anno feature ids: PRO_0000391626
up seq anno feature ids: PRO_5014214256
up seq anno feature ids: VAR_020616
up seq anno feature ids: VAR_020617
up seq anno feature ids: VAR_032423
up seq anno feature ids: VAR_032424
up seq anno feature ids: VAR_032425
up seq anno feature ids: VAR_036136
up seq anno feature ids: VAR_036137
up seq anno feature ids: VAR_036138
up seq anno feature ids: VAR_054996
up seq anno feature ids: VSP_044631
up seq anno feature ids: VSP_045704

9606:TNP2
gene id: 9606:TNP2
uniprot id: Q05952
uniprot id: Q4VB56
up 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: 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: Sequence Variant
up seq anno comments: Basic residues
up seq anno comments: Nuclear localization signal
up seq anno comments: Nuclear transition protein 2
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000191425
up seq anno feature ids: VAR_052157

9606:NUDT18
gene id: 9606:NUDT18
uniprot id: Q6ZVK8
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: 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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: 8-oxo-dGDP phosphatase NUDT18
up seq anno comments: In isoform 2.
up seq anno comments: Nudix box
up seq anno comments: Nudix hydrolase
up seq anno feature ids: PRO_0000324567
up seq anno feature ids: VSP_032276
up seq anno feature ids: VSP_032277

9606:ALDH3B1
gene id: 9606:ALDH3B1
uniprot id: A0A024R5D8
uniprot id: A0A024R5K0
uniprot id: A0A087X2D4
uniprot id: P43353
up 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: 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: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Propeptide
up seq anno labels: Splice Variant
up seq anno comments: Aldedh
up seq anno comments: Aldehyde dehydrogenase family 3 member B1
up seq anno comments: Cysteine methyl ester
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylmethionine
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 feature ids: PRO_0000056481
up seq anno feature ids: PRO_0000424193
up seq anno feature ids: VSP_014040

9606:RAB3GAP1
gene id: 9606:RAB3GAP1
uniprot id: A0A8J9AUI2
uniprot id: B9A6J2
uniprot id: Q15042
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 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 Variant
up seq anno labels: Splice Variant
up seq anno comments: In WARBM1; abolishes GEF activity towards RAB18; loss of RAB18 membrane association; no effect on GAP activity; no effect on GAP activity towards the RAB3 proteins RAB5A or RAB43.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of function.
up seq anno comments: No effect.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Rab3 GTPase-activating protein catalytic subunit
up seq anno comments: Rab3-GAP_cat_C
up seq anno comments: Rab3-GTPase_cat
up seq anno feature ids: PRO_0000191655
up seq anno feature ids: VAR_051716
up seq anno feature ids: VAR_086019
up seq anno feature ids: VAR_086020
up seq anno feature ids: VSP_054068
up seq anno feature ids: VSP_054475
up seq anno feature ids: VSP_054476

9606:GBX1
gene id: 9606:GBX1
uniprot id: Q14549
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Helix
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno comments: Basic and acidic residues
up seq anno comments: Homeobox
up seq anno comments: Homeobox protein GBX-1
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000048878
up seq anno feature ids: VAR_049579

9606:KIAA1958
gene id: 9606:KIAA1958
uniprot id: Q8N8K9
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
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: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Uncharacterized protein KIAA1958
up seq anno feature ids: PRO_0000050811
up seq anno feature ids: VSP_015146
up seq anno feature ids: VSP_054654

9606:PDIA5
gene id: 9606:PDIA5
uniprot id: Q14554
up 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 labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Helix
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: Strand
up seq anno labels: Turn
up seq anno comments: In isoform 2.
up seq anno comments: Prevents secretion from ER
up seq anno comments: Protein disulfide-isomerase A5
up seq anno comments: Redox-active
up seq anno comments: Thioredoxin 1
up seq anno comments: Thioredoxin 2
up seq anno comments: Thioredoxin 3
up seq anno feature ids: PRO_0000034233
up seq anno feature ids: VAR_052581
up seq anno feature ids: VSP_056536
up seq anno feature ids: VSP_056537

9606:SERPINA9
gene id: 9606:SERPINA9
uniprot id: Q86WD7
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 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: In isoform 2 and isoform 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: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Serpin A9
up seq anno feature ids: PRO_0000041971
up seq anno feature ids: VAR_047344
up seq anno feature ids: VAR_047345
up seq anno feature ids: VAR_047346
up seq anno feature ids: VAR_047347
up seq anno feature ids: VAR_047348
up seq anno feature ids: VSP_041488
up seq anno feature ids: VSP_041489
up seq anno feature ids: VSP_041490
up seq anno feature ids: VSP_041491
up seq anno feature ids: VSP_041492
up seq anno feature ids: VSP_041493
up seq anno feature ids: VSP_041494
up seq anno feature ids: VSP_041495

9606:SLC6A20
gene id: 9606:SLC6A20
uniprot id: Q9NP91
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 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: Common variant that contributes to hyperglycinuria and iminoglycinuria in patients carrying variants in SLC36A2, SLC6A19 or SLC6A18; results in SLC6A20 inactivation due to a 8-fold decrease of Vmax.
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 isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Sodium- and chloride-dependent transporter XTRP3
up seq anno feature ids: PRO_0000214812
up seq anno feature ids: VAR_021862
up seq anno feature ids: VAR_052068
up seq anno feature ids: VSP_050002

9606:OR2D3
gene id: 9606:OR2D3
uniprot id: Q8NGH3
up 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 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 2D3
up seq anno feature ids: PRO_0000150468
up seq anno feature ids: VAR_057537
up seq anno feature ids: VAR_057538
up seq anno feature ids: VAR_057539

9606:CWC25
gene id: 9606:CWC25
uniprot id: Q9NXE8
up 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 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: 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: 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:HSP90AA1
gene id: 9606:HSP90AA1
uniprot id: K9JA46
uniprot id: P07900
uniprot id: Q86SX1
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: Secondary Structure
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: 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: 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 ATPase activity.
up seq anno comments: Basic and acidic residues
up seq anno comments: HATPase_c
up seq anno comments: Heat shock protein HSP 90-alpha
up seq anno comments: Impaired ATP-binding. Strong interaction with HIF1A, MET, KEAP1 and RHOBTB2. Loss of interaction with HSF1 and ERBB2. Los of interaction with TSC1.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of S-nitrosylation.
up seq anno comments: Loss of interaction with TOMM70.
up seq anno comments: Loss of interaction with TOMM70. No effect on interaction with IRF3.
up seq anno comments: Loss of interaction with TSC1 and increases interacrion with AHSA1.
up seq anno comments: Loss of interaction with TSC1.
up seq anno comments: N6-acetyllysine
up seq anno comments: No deffect on the interaction with TSC1.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine; by PRKDC
up seq anno comments: Phosphotyrosine
up seq anno comments: Reduces ATPase activity and client protein activation.
up seq anno comments: Removed
up seq anno comments: S-nitrosocysteine
up seq anno comments: Strong ATP-binding. Strong interaction with HSF1, HIF1A, ERBB2, MET, KEAP1 and RHOBTB2. No effect on interaction with TSC1.
up seq anno comments: TPR repeat-binding
up seq anno feature ids: PRO_0000062911
up seq anno feature ids: VAR_082835
up seq anno feature ids: VSP_026604

9606:LRRFIP1
gene id: 9606:LRRFIP1
uniprot id: A0A0F7NGI8
uniprot id: B4DPC0
uniprot id: Q32MZ4
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: Secondary Structure
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: Sequence Conflict
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: 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 SUMO2)
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 3.
up seq anno comments: In isoform 4.
up seq anno comments: Leucine-rich repeat flightless-interacting protein 1
up seq anno comments: N-acetylthreonine
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_0000248392
up seq anno feature ids: VAR_027291
up seq anno feature ids: VAR_027292
up seq anno feature ids: VAR_027293
up seq anno feature ids: VAR_027294
up seq anno feature ids: VAR_027295
up seq anno feature ids: VAR_027296
up seq anno feature ids: VAR_036037
up seq anno feature ids: VAR_056111
up seq anno feature ids: VSP_020264
up seq anno feature ids: VSP_020265
up seq anno feature ids: VSP_046809
up seq anno feature ids: VSP_046810
up seq anno feature ids: VSP_046811
up seq anno feature ids: VSP_046812
up seq anno feature ids: VSP_046813
up seq anno feature ids: VSP_046814

9606:SPHK1
gene id: 9606:SPHK1
uniprot id: Q53ZR5
uniprot id: Q9NYA1
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: Secondary Structure
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: 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: Abolishes interaction with CIB1.
up seq anno comments: DAGKc
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of binding to negatively charged membranes, diffuse cytosolic distribution.
up seq anno comments: Loss of enzyme activity.
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: Proton donor/acceptor
up seq anno comments: Sphingosine kinase 1
up seq anno comments: Strongly reduced enzyme activity.
up seq anno feature ids: PRO_0000181357
up seq anno feature ids: VAR_082919
up seq anno feature ids: VSP_035453
up seq anno feature ids: VSP_047078

9606:CEP162
gene id: 9606:CEP162
uniprot id: Q5TB80
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 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: 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 162 kDa
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000295628
up seq anno feature ids: VAR_033301
up seq anno feature ids: VAR_033302
up seq anno feature ids: VAR_051293
up seq anno feature ids: VAR_051294
up seq anno feature ids: VSP_026953

9606:MRPS18B
gene id: 9606:MRPS18B
uniprot id: B0S7P4
uniprot id: Q9Y676
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: 28S ribosomal protein S18b, mitochondrial
up seq anno comments: Mitochondrion
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000030627
up seq anno feature ids: VAR_052056

9606:SPX
gene id: 9606:SPX
uniprot id: Q9BT56
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: Modified Residue
up seq anno labels: Peptide
up seq anno labels: Propeptide
up seq anno labels: Signal Peptide
up seq anno comments: Basic and acidic residues
up seq anno comments: Glutamine amide
up seq anno comments: Spexin
up seq anno comments: Spexin-1
up seq anno comments: Spexin-2
up seq anno feature ids: PRO_0000042159
up seq anno feature ids: PRO_0000363216
up seq anno feature ids: PRO_0000363217
up seq anno feature ids: PRO_0000430213
up seq anno feature ids: PRO_0000430214
up seq anno feature ids: PRO_0000430215

9606:PATE3
gene id: 9606:PATE3
uniprot id: B3GLJ2
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 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: Prostate and testis expressed protein 3
up seq anno comments: UPAR/Ly6
up seq anno feature ids: PRO_0000354972
up seq anno feature ids: VAR_059884

9606:ODAM
gene id: 9606:ODAM
uniprot id: A1E959
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Basic and acidic residues
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: O-linked (GalNAc...) serine
up seq anno comments: O-linked (GalNAc...) threonine
up seq anno comments: Odontogenic ameloblast-associated protein
up seq anno comments: Polar residues
up seq anno feature ids: PRO_5000183879
up seq anno feature ids: VAR_039812
up seq anno feature ids: VAR_039813

9606:EIF2AK2
gene id: 9606:EIF2AK2
uniprot id: A0A7P0Z4M0
uniprot id: P19525
uniprot id: Q8IW76
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: Secondary Structure
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: 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: 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: 1
up seq anno comments: 2
up seq anno comments: DRBM
up seq anno comments: DRBM 1
up seq anno comments: DRBM 2
up seq anno comments: Found in a patient with dysmorphic facies, syndactyly, congenital microcephaly and global developmental delay; unknown pathological significance.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ISG15)
up seq anno comments: Impairs dsRNA binding but not dimerization or activity.
up seq anno comments: In DYT33; gain-of-function variant resulting in increased levels of phosphorylated EIF2AK2 and EIF2A in patient cells compared to controls.
up seq anno comments: In DYT33; unknown pathological significance.
up seq anno comments: In DYT33; unknown pathological significance; gain-of-function variant resulting in increased levels of phosphorylated EIF2AK2 and EIF2A in patient cells compared to controls.
up seq anno comments: In FL-PKR-2AI; moderate loss of activity but no effect on dsRNA binding.
up seq anno comments: In FL-PKR-2AII; no effect on activity.
up seq anno comments: In LEUDEN; unknown pathological significance.
up seq anno comments: In LEUDEN; unknown pathological significance; reduced phosphorylation of eukaryotic translation initiation factor 2-alpha in patient cells.
up seq anno comments: In a lung adenocarcinoma sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Interferon-induced, double-stranded RNA-activated protein kinase
up seq anno comments: Loss of activity.
up seq anno comments: Moderate loss of activity.
up seq anno comments: Moderate loss of activity; when associated with A-242 and A-255.
up seq anno comments: Moderate loss of activity; when associated with A-255 and A-258.
up seq anno comments: N-acetylalanine
up seq anno comments: No effect on enzymatic activity; when associated with A-83; A-88 and A-89.
up seq anno comments: No effect on enzymatic activity; when associated with A-83; A-88 and A-90.
up seq anno comments: No effect on enzymatic activity; when associated with A-83; A-89 and A-90.
up seq anno comments: No effect on enzymatic activity; when associated with A-88; A-89 and A-90.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by autocatalysis
up seq anno comments: Phosphothreonine; by autocatalysis
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: Significant loss of activity and impairs autophosphorylation of T-451.
up seq anno comments: Significant loss of activity; loss of dsRNA binding and dimerization.
up seq anno feature ids: PRO_0000085945
up seq anno feature ids: VAR_040474
up seq anno feature ids: VAR_040475
up seq anno feature ids: VAR_040476
up seq anno feature ids: VAR_084260
up seq anno feature ids: VAR_084261
up seq anno feature ids: VAR_084262
up seq anno feature ids: VAR_084263
up seq anno feature ids: VAR_084264
up seq anno feature ids: VAR_084265
up seq anno feature ids: VAR_084266
up seq anno feature ids: VAR_084267
up seq anno feature ids: VAR_084268
up seq anno feature ids: VAR_086715
up seq anno feature ids: VAR_086716
up seq anno feature ids: VAR_086717
up seq anno feature ids: VSP_046177

9606:ASPHD2
gene id: 9606:ASPHD2
uniprot id: A0A024R1D0
uniprot id: Q6ICH7
up 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: 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: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Asp_Arg_Hydrox
up seq anno comments: Aspartate beta-hydroxylase domain-containing protein 2
up seq anno comments: Cytoplasmic
up seq anno comments: Helical
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000254162
up seq anno feature ids: VAR_060123

9606:EMILIN3
gene id: 9606:EMILIN3
uniprot id: Q9NT22
up 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 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: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: EMI
up seq anno comments: EMILIN-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 feature ids: PRO_0000007819
up seq anno feature ids: VAR_053075
up seq anno feature ids: VSP_055481

9606:EMILIN1
gene id: 9606:EMILIN1
uniprot id: Q9Y6C2
up 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 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: 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: C1q
up seq anno comments: Collagen-like
up seq anno comments: EMI
up seq anno comments: EMILIN-1
up seq anno comments: Found in a patient with connective tissue disorder and peripheral neuropathy; unknown pathological significance; decreased secretion; accumulates in the endoplasmic reticulum.
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: Pro residues
up seq anno feature ids: PRO_0000007815
up seq anno feature ids: VAR_046095
up seq anno feature ids: VAR_046096
up seq anno feature ids: VAR_046097
up seq anno feature ids: VAR_077591
up seq anno feature ids: VSP_055478
up seq anno feature ids: VSP_055479
up seq anno feature ids: VSP_055480

9606:RADX
gene id: 9606:RADX
uniprot id: Q6NSI4
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
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: Decreased binding to single-stranded DNA; when associated with E-240; 252-E--E-256; A-279; E-304; E-310 and A-327.
up seq anno comments: Decreased binding to single-stranded DNA; when associated with E-240; E-248; 252-E--E-256; A-279; E-304 and A-327.
up seq anno comments: Decreased binding to single-stranded DNA; when associated with E-240; E-248; 252-E--E-256; A-279; E-304 and E-310.
up seq anno comments: Decreased binding to single-stranded DNA; when associated with E-240; E-248; 252-E--E-256; A-279; E-310 and A-327.
up seq anno comments: Decreased binding to single-stranded DNA; when associated with E-240; E-248; 252-E--E-256; E-304; E-310 and A-327.
up seq anno comments: Decreased binding to single-stranded DNA; when associated with E-240; E-248; A-279; E-304; E-310 and A-327.
up seq anno comments: Decreased binding to single-stranded DNA; when associated with E-248; 252-E--E-256; A-279; E-304; E-310 and A-327.
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: OB
up seq anno comments: Polar residues
up seq anno comments: RPA-related protein RADX
up seq anno feature ids: PRO_0000254127
up seq anno feature ids: VAR_028816
up seq anno feature ids: VSP_021182
up seq anno feature ids: VSP_021183
up seq anno feature ids: VSP_044983
up seq anno feature ids: VSP_044984

9606:ZNF215
gene id: 9606:ZNF215
uniprot id: Q9UL58
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: In isoform 2.
up seq anno comments: KRAB
up seq anno comments: SCAN box
up seq anno comments: Zinc finger protein 215
up seq anno feature ids: PRO_0000047459
up seq anno feature ids: VAR_021890
up seq anno feature ids: VAR_024200
up seq anno feature ids: VAR_057405
up seq anno feature ids: VAR_057406
up seq anno feature ids: VAR_057407
up seq anno feature ids: VAR_060423
up seq anno feature ids: VSP_054156
up seq anno feature ids: VSP_054157

9606:OOSP2
gene id: 9606:OOSP2
uniprot id: A0A140VJR6
uniprot id: Q86WS3
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno comments: Oocyte-secreted protein 2
up seq anno feature ids: PRO_0000251150
up seq anno feature ids: PRO_5014247033

9606:ADCY5
gene id: 9606:ADCY5
uniprot id: A0A384P5Q5
uniprot id: B3KWA8
uniprot id: B7Z2C7
uniprot id: O95622
up 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: 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: 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 5
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Guanylate cyclase
up seq anno comments: Guanylate cyclase 1
up seq anno comments: Guanylate cyclase 2
up seq anno comments: Helical
up seq anno comments: In DSKOD; increases cAMP production upon activation of ADRB1.
up seq anno comments: In DSKOR.
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: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000195694
up seq anno feature ids: VAR_068821
up seq anno feature ids: VAR_073778
up seq anno feature ids: VAR_086538
up seq anno feature ids: VAR_086539
up seq anno feature ids: VAR_086540
up seq anno feature ids: VAR_086541
up seq anno feature ids: VAR_086542
up seq anno feature ids: VSP_042914
up seq anno feature ids: VSP_042915

9606:STPG4
gene id: 9606:STPG4
uniprot id: Q8N801
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Protein STPG4
up seq anno feature ids: PRO_0000311684
up seq anno feature ids: VAR_050715
up seq anno feature ids: VAR_050716
up seq anno feature ids: VSP_047926

9606:SPANXC
gene id: 9606:SPANXC
uniprot id: Q9NY87
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Motif
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Nuclear localization signal
up seq anno comments: Polar residues
up seq anno comments: Sperm protein associated with the nucleus on the X chromosome C
up seq anno feature ids: PRO_0000189551
up seq anno feature ids: VAR_032024

9606:MGA
gene id: 9606:MGA
uniprot id: Q8IWI9
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 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: Modified Residue
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: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: MAX gene-associated protein
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: T-box
up seq anno comments: bHLH
up seq anno feature ids: PRO_0000342692
up seq anno feature ids: VAR_044341
up seq anno feature ids: VAR_044342
up seq anno feature ids: VAR_044343
up seq anno feature ids: VAR_057268
up seq anno feature ids: VSP_060177

9606:MOSPD2
gene id: 9606:MOSPD2
uniprot id: Q8NHP6
uniprot id: R4GMN1
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 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: 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: CRAL-TRIO
up seq anno comments: Cytoplasmic
up seq anno comments: Helical; Anchor for type IV membrane protein
up seq anno comments: In isoform 2.
up seq anno comments: Loss of localization to endoplasmic reticulum membrane.
up seq anno comments: MSP
up seq anno comments: Motile sperm domain-containing protein 2
up seq anno comments: Polar residues
up seq anno comments: Prevents binding to the FFAT motif of target proteins STARD3, STARD3NL, RMDN3, OSBPL1A and CERT1 and impairs recruitment to interorganelle membrane contacts; when associated with D-404.
up seq anno comments: Prevents binding to the FFAT motif of target proteins STARD3, STARD3NL, RMDN3, OSBPL1A and CERT1 and impairs recruitment to interorganelle membrane contacts; when associated with D-406.
up seq anno feature ids: PRO_0000213463
up seq anno feature ids: VAR_034109
up seq anno feature ids: VSP_014046

9606:ROR1
gene id: 9606:ROR1
uniprot id: Q01973
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: Secondary Structure
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: Helix
up seq anno labels: Modified Residue
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: FZ
up seq anno comments: Helical
up seq anno comments: Ig-like C2-type
up seq anno comments: In DFNB108; impairs plasma membrane location; abolishes downstream NFkB activation.
up seq anno comments: In a breast cancer sample; somatic mutation.
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 a renal clear cell carcinoma sample; somatic mutation.
up seq anno comments: In an ovarian mucinous carcinoma sample; somatic mutation.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform Short.
up seq anno comments: Inactive tyrosine-protein kinase transmembrane receptor ROR1
up seq anno comments: Kringle
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No effect on kinase activity.
up seq anno comments: Phosphotyrosine; by autocatalysis
up seq anno comments: Polar residues
up seq anno comments: Protein kinase
up seq anno feature ids: PRO_0000024458
up seq anno feature ids: VAR_035713
up seq anno feature ids: VAR_041779
up seq anno feature ids: VAR_041780
up seq anno feature ids: VAR_041781
up seq anno feature ids: VAR_041782
up seq anno feature ids: VAR_041783
up seq anno feature ids: VAR_041784
up seq anno feature ids: VAR_041785
up seq anno feature ids: VAR_041786
up seq anno feature ids: VAR_079530
up seq anno feature ids: VSP_005008
up seq anno feature ids: VSP_043663
up seq anno feature ids: VSP_043664

9606:ARFGAP2
gene id: 9606:ARFGAP2
uniprot id: G5E9L0
uniprot id: Q8N6H7
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: 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: 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 labels: Zinc Finger
up seq anno comments: ADP-ribosylation factor GTPase-activating protein 2
up seq anno comments: Arf-GAP
up seq anno comments: Basic and acidic residues
up seq anno comments: C4-type
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_0000278468
up seq anno feature ids: VAR_030780
up seq anno feature ids: VAR_048321
up seq anno feature ids: VAR_048322
up seq anno feature ids: VAR_048323
up seq anno feature ids: VSP_056054
up seq anno feature ids: VSP_056055
up seq anno feature ids: VSP_056056

9606:H1-6
gene id: 9606:H1-6
uniprot id: P22492
up 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 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: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Citrulline
up seq anno comments: H15
up seq anno comments: Histone H1t
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000195910
up seq anno feature ids: VAR_049310
up seq anno feature ids: VAR_049311
up seq anno feature ids: VAR_049312

9606:ANKDD1B
gene id: 9606:ANKDD1B
uniprot id: A6NHY2
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: Repeat
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: Ankyrin repeat and death domain-containing protein 1B
up seq anno comments: Death
up seq anno feature ids: PRO_0000332160

9606:TCAIM
gene id: 9606:TCAIM
uniprot id: A0A024R2R9
uniprot id: Q8N3R3
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 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 comments: DUF4460
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: T-cell activation inhibitor, mitochondrial
up seq anno feature ids: PRO_0000235340
up seq anno feature ids: VAR_050720
up seq anno feature ids: VSP_018469
up seq anno feature ids: VSP_018470
up seq anno feature ids: VSP_018471
up seq anno feature ids: VSP_018472
up seq anno feature ids: VSP_038421

9606:CCDC71
gene id: 9606:CCDC71
uniprot id: Q8IV32
up 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 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: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Coiled-coil domain-containing protein 71
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000234421
up seq anno feature ids: VAR_026236
up seq anno feature ids: VAR_026237

9606:AGK
gene id: 9606:AGK
uniprot id: A4D1U5
uniprot id: Q53H12
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 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: 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: 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:TWSG1
gene id: 9606:TWSG1
uniprot id: Q9GZX9
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 labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Twisted gastrulation protein homolog 1
up seq anno feature ids: PRO_0000278808
up seq anno feature ids: VSP_042538
up seq anno feature ids: VSP_042539

9606:SCGB1D1
gene id: 9606:SCGB1D1
uniprot id: O95968
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno labels: Mass
up seq anno labels: Signal Peptide
up seq anno comments: Secretoglobin family 1D member 1
up seq anno feature ids: PRO_0000036378

9606:PFKFB2
gene id: 9606:PFKFB2
uniprot id: O60825
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: Secondary Structure
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: 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: 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2
up seq anno comments: Constitutively active mutant that cannot be phosphorylated and further activated by AMPK.
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylserine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by AMPK
up seq anno comments: Phosphoserine; by PKA
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Proton donor/acceptor
up seq anno comments: Removed
up seq anno comments: Tele-phosphohistidine intermediate
up seq anno feature ids: PRO_0000179964
up seq anno feature ids: VSP_004675

9606:FCAMR
gene id: 9606:FCAMR
uniprot id: A0A0B4J1S2
uniprot id: Q8WWV6
up 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 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: 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: Extracellular
up seq anno comments: Helical
up seq anno comments: High affinity immunoglobulin alpha and immunoglobulin mu Fc receptor
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: In isoform 4.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000331483
up seq anno feature ids: VSP_033227
up seq anno feature ids: VSP_033228
up seq anno feature ids: VSP_033229
up seq anno feature ids: VSP_033230
up seq anno feature ids: VSP_033231
up seq anno feature ids: VSP_033232

9606:DHX32
gene id: 9606:DHX32
uniprot id: Q7L7V1
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: 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: 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: 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:ICAM2
gene id: 9606:ICAM2
uniprot id: P13598
uniprot id: Q6FHE2
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: Secondary Structure
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: 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: ICAM_N
up seq anno comments: Ig-like C2-type 1
up seq anno comments: Ig-like C2-type 2
up seq anno comments: Intercellular adhesion molecule 2
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000014790
up seq anno feature ids: PRO_5014310454
up seq anno feature ids: VAR_014655
up seq anno feature ids: VAR_014656
up seq anno feature ids: VAR_021920

9606:MICOS10-NBL1
gene id: 9606:MICOS10-NBL1
uniprot id: P41271
up 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 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: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: CTCK
up seq anno comments: In isoform 2.
up seq anno comments: Neuroblastoma suppressor of tumorigenicity 1
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000006722
up seq anno feature ids: VSP_036438

9606:CUX1
gene id: 9606:CUX1
uniprot id: P39880
uniprot id: Q13948
uniprot id: Q3LIA3
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 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: 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: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: CASP_C
up seq anno comments: CDP/Cux p110
up seq anno comments: CUT 1
up seq anno comments: CUT 2
up seq anno comments: CUT 3
up seq anno comments: Cytoplasmic
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Helical
up seq anno comments: Helical; Anchor for type IV membrane protein
up seq anno comments: Homeobox
up seq anno comments: Homeobox protein cut-like 1
up seq anno comments: In GDDI.
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 10.
up seq anno comments: In isoform 11.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3 and isoform 11.
up seq anno comments: In isoform 5 and isoform 7.
up seq anno comments: In isoform 6 and isoform 7.
up seq anno comments: In isoform 8 and isoform 9.
up seq anno comments: In isoform 9.
up seq anno comments: Lumenal
up seq anno comments: No effect on subcellular location.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Protein CASP
up seq anno comments: Retained in the endoplasmic reticulum.
up seq anno feature ids: PRO_0000071790
up seq anno feature ids: PRO_0000202393
up seq anno feature ids: PRO_0000450797
up seq anno feature ids: VAR_024923
up seq anno feature ids: VAR_024924
up seq anno feature ids: VAR_036285
up seq anno feature ids: VAR_036286
up seq anno feature ids: VAR_081977
up seq anno feature ids: VSP_002310
up seq anno feature ids: VSP_015747
up seq anno feature ids: VSP_017358
up seq anno feature ids: VSP_017359
up seq anno feature ids: VSP_040094
up seq anno feature ids: VSP_045593
up seq anno feature ids: VSP_045924
up seq anno feature ids: VSP_045925
up seq anno feature ids: VSP_045926
up seq anno feature ids: VSP_045927

9606:PODN
gene id: 9606:PODN
uniprot id: Q7Z5L7
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 labels: Chain
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: In isoform 2.
up seq anno comments: In isoform 3 and isoform 4.
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 18
up seq anno comments: LRR 19
up seq anno comments: LRR 2
up seq anno comments: LRR 20
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: Podocan
up seq anno feature ids: PRO_0000262524
up seq anno feature ids: VAR_029497
up seq anno feature ids: VAR_029498
up seq anno feature ids: VSP_021784
up seq anno feature ids: VSP_037827
up seq anno feature ids: VSP_039064

9606:RPL14
gene id: 9606:RPL14
uniprot id: P50914
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 labels: Chain
up seq anno labels: Crosslink
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 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: 60S ribosomal protein L14
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: 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: Removed
up seq anno feature ids: PRO_0000132031
up seq anno feature ids: VAR_006923
up seq anno feature ids: VAR_013633
up seq anno feature ids: VAR_013634
up seq anno feature ids: VAR_013635
up seq anno feature ids: VAR_013636
up seq anno feature ids: VAR_013637
up seq anno feature ids: VAR_014070
up seq anno feature ids: VAR_047109

9606:SP7
gene id: 9606:SP7
uniprot id: A0A024RAY8
uniprot id: Q8TDD2
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 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: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: 9aaTAD
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: Enhances osteogenic differentiation in C2C12 cells.
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: N6-propionyllysine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Transcription factor Sp7
up seq anno feature ids: PRO_0000047150
up seq anno feature ids: VSP_047639

9606:FEV
gene id: 9606:FEV
uniprot id: Q99581
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: DNA Binding
up seq anno labels: Helix
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: ETS
up seq anno comments: Protein FEV
up seq anno feature ids: PRO_0000344204

9606:IDUA
gene id: 9606:IDUA
uniprot id: P35475
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: Secondary Structure
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: 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: Alpha-L-iduronidase
up seq anno comments: In IDUA pseudodeficiency.
up seq anno comments: In MPS1H and MPS1H/S; in 3% of the MPS1H patients; reduces catalytic activity and protein stability.
up seq anno comments: In MPS1H.
up seq anno comments: In MPS1H/S and MPS1S.
up seq anno comments: In MPS1H/S.
up seq anno comments: In MPS1H/S; 0.4% of normal activity.
up seq anno comments: In MPS1H/S; 1.5% of normal activity.
up seq anno comments: In MPS1H/S; associated with R-423.
up seq anno comments: In MPS1H/S; loss of activity.
up seq anno comments: In MPS1H/S; reduction of activity and protein levels.
up seq anno comments: In MPS1H; MPS1H/S.
up seq anno comments: In MPS1H; loss of function; undetectable enzyme activity.
up seq anno comments: In MPS1H; uncertain pathological role.
up seq anno comments: In MPS1S and MPS1H/S; associated with L-188 in a patient with MPS1H/S; significant reduction of activity and protein levels.
up seq anno comments: In MPS1S.
up seq anno comments: In MPS1S; 2-3% of normal 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: Proton donor
up seq anno comments: Reduction of protein levels.
up seq anno feature ids: PRO_0000012200
up seq anno feature ids: VAR_003349
up seq anno feature ids: VAR_003350
up seq anno feature ids: VAR_003351
up seq anno feature ids: VAR_003352
up seq anno feature ids: VAR_003353
up seq anno feature ids: VAR_003354
up seq anno feature ids: VAR_003355
up seq anno feature ids: VAR_003356
up seq anno feature ids: VAR_003357
up seq anno feature ids: VAR_003358
up seq anno feature ids: VAR_003359
up seq anno feature ids: VAR_003360
up seq anno feature ids: VAR_003361
up seq anno feature ids: VAR_003362
up seq anno feature ids: VAR_003363
up seq anno feature ids: VAR_003364
up seq anno feature ids: VAR_003365
up seq anno feature ids: VAR_003366
up seq anno feature ids: VAR_003367
up seq anno feature ids: VAR_003368
up seq anno feature ids: VAR_003369
up seq anno feature ids: VAR_003370
up seq anno feature ids: VAR_003371
up seq anno feature ids: VAR_003372
up seq anno feature ids: VAR_003373
up seq anno feature ids: VAR_003374
up seq anno feature ids: VAR_003375
up seq anno feature ids: VAR_003376
up seq anno feature ids: VAR_003377
up seq anno feature ids: VAR_003378
up seq anno feature ids: VAR_003379
up seq anno feature ids: VAR_017435
up seq anno feature ids: VAR_017436
up seq anno feature ids: VAR_017437
up seq anno feature ids: VAR_020975
up seq anno feature ids: VAR_020976
up seq anno feature ids: VAR_020977

9606:PI4KA
gene id: 9606:PI4KA
uniprot id: B4DYG5
uniprot id: P42356
uniprot id: Q4LE69
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 labels: Chain
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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: In GIDID2; decreased interaction with TTC7A resulting in reduced PI4K complex stability; no effect on kinase activity.
up seq anno comments: In NEDSPLB.
up seq anno comments: In NEDSPLB; loss of kinase activity; no effect on protein abundance.
up seq anno comments: In NEDSPLB; unknown pathological significance.
up seq anno comments: In SPG84; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of kinase activity.
up seq anno comments: PI3K/PI4K catalytic
up seq anno comments: PIK helical
up seq anno comments: Phosphatidylinositol 4-kinase alpha
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno feature ids: PRO_0000088827
up seq anno feature ids: VAR_050531
up seq anno feature ids: VAR_059549
up seq anno feature ids: VAR_074640
up seq anno feature ids: VAR_086468
up seq anno feature ids: VAR_086469
up seq anno feature ids: VAR_086470
up seq anno feature ids: VAR_086471
up seq anno feature ids: VAR_086472
up seq anno feature ids: VAR_086473
up seq anno feature ids: VAR_086474
up seq anno feature ids: VAR_086475
up seq anno feature ids: VAR_086476
up seq anno feature ids: VAR_086477
up seq anno feature ids: VAR_086478
up seq anno feature ids: VAR_086479
up seq anno feature ids: VAR_086480
up seq anno feature ids: VAR_086481
up seq anno feature ids: VAR_086482
up seq anno feature ids: VAR_086483
up seq anno feature ids: VAR_086484
up seq anno feature ids: VAR_086485
up seq anno feature ids: VAR_086486
up seq anno feature ids: VAR_086487
up seq anno feature ids: VAR_086488
up seq anno feature ids: VAR_086489
up seq anno feature ids: VSP_008805

9606:LRPPRC
gene id: 9606:LRPPRC
uniprot id: A0A804HIG4
uniprot id: E5KNY5
uniprot id: P42704
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 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: 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: PPR_long
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
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:MYOF
gene id: 9606:MYOF
uniprot id: Q9NZM1
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: Secondary Structure
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: 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: 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: 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: 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:IL12RB2
gene id: 9606:IL12RB2
uniprot id: A0A0A0MTN7
uniprot id: A0A8Q3SIX0
uniprot id: B4DGA4
uniprot id: B7ZB60
uniprot id: Q99665
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 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: 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: Abolishes in vitro STAT4 binding to a phosphorylated Y-800 peptide.
up seq anno comments: Box 1 motif
up seq anno comments: Cytoplasmic
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: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Interleukin-12 receptor subunit beta-2
up seq anno comments: Loss of STAT4 activation. Abolishes SOCS3 binding.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No effect on in vitro STAT4 binding to a phosphorylated Y-800 peptide.
up seq anno comments: No loss of STAT4 activation. No loss of SOCS3 binding.
up seq anno comments: Phosphotyrosine
up seq anno comments: WSXWS motif
up seq anno feature ids: PRO_0000010920
up seq anno feature ids: PRO_5002803262
up seq anno feature ids: PRO_5002866305
up seq anno feature ids: PRO_5027582961
up seq anno feature ids: PRO_5035645368
up seq anno feature ids: VAR_014805
up seq anno feature ids: VAR_014806
up seq anno feature ids: VAR_014807
up seq anno feature ids: VAR_014808
up seq anno feature ids: VAR_016097
up seq anno feature ids: VAR_019525
up seq anno feature ids: VAR_019526
up seq anno feature ids: VAR_019527
up seq anno feature ids: VAR_021278
up seq anno feature ids: VAR_021279
up seq anno feature ids: VAR_021280
up seq anno feature ids: VAR_049169
up seq anno feature ids: VSP_011112
up seq anno feature ids: VSP_011113
up seq anno feature ids: VSP_044784

9606:BMP6
gene id: 9606:BMP6
uniprot id: B4DUF7
uniprot id: P22004
uniprot id: Q4VBA3
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: Secondary Structure
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: Non-terminal Residue
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: Bone morphogenetic protein 6
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: Polar residues
up seq anno comments: TGF_BETA_2
up seq anno feature ids: PRO_0000033870
up seq anno feature ids: PRO_0000033871
up seq anno feature ids: VAR_036200
up seq anno feature ids: VAR_036201
up seq anno feature ids: VAR_047055

9606:CHPF2
gene id: 9606:CHPF2
uniprot id: B3KPG6
uniprot id: G5E9W2
uniprot id: Q9P2E5
up 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 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: 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: 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:TIMP2
gene id: 9606:TIMP2
uniprot id: A0A140VK57
uniprot id: P16035
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: 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: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Metalloproteinase inhibitor 2
up seq anno comments: NTR
up seq anno feature ids: PRO_0000034335
up seq anno feature ids: PRO_5007491749

9606:THUMPD2
gene id: 9606:THUMPD2
uniprot id: B4DP37
uniprot id: Q969Z2
uniprot id: Q9BTF0
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: THUMP
up seq anno comments: THUMP domain-containing protein 2
up seq anno comments: UPF0020
up seq anno feature ids: PRO_0000072532
up seq anno feature ids: VSP_041645
up seq anno feature ids: VSP_041646

9606:OR10G2
gene id: 9606:OR10G2
uniprot id: Q8NGC3
up 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 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 10G2
up seq anno feature ids: PRO_0000150695
up seq anno feature ids: VAR_053270
up seq anno feature ids: VAR_053271
up seq anno feature ids: VAR_053272
up seq anno feature ids: VAR_053273
up seq anno feature ids: VAR_085741
up seq anno feature ids: VAR_085742
up seq anno feature ids: VAR_085743

9606:CBLN1
gene id: 9606:CBLN1
uniprot id: P23435
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 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: Peptide
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes GRID2 interaction.; when associated with A-122 and A-124.
up seq anno comments: Abolishes GRID2 interaction.; when associated with A-122 and A-147.
up seq anno comments: Abolishes GRID2 interaction.; when associated with A-124 and A-147.
up seq anno comments: Abolishes hexamer formation; when associated with S-34. Abolishes interaction with NRXN1 isoform 3B; when associated with S-34. Abolishes GRID2 interaction.; when associated with S-34.
up seq anno comments: Abolishes hexamer formation; when associated with S-38. Abolishes interaction with NRXN1; when associated with S-38. Abolishes GRID2 interaction; when associated with S-38.
up seq anno comments: C1q
up seq anno comments: Cerebellin
up seq anno comments: Cerebellin-1
up seq anno comments: Interchain
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: [des-Ser1]-cerebellin
up seq anno feature ids: PRO_0000003546
up seq anno feature ids: PRO_0000274209
up seq anno feature ids: PRO_0000274210

9606:MIX23
gene id: 9606:MIX23
uniprot id: Q4VC31
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 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 comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: Protein MIX23
up seq anno comments: Removed
up seq anno feature ids: PRO_0000239441

9606:CP
gene id: 9606:CP
uniprot id: A5PL27
uniprot id: P00450
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: Secondary Structure
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: 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: Turn
up seq anno comments: Ceruloplasmin
up seq anno comments: F5/8 type A 1
up seq anno comments: F5/8 type A 2
up seq anno comments: F5/8 type A 3
up seq anno comments: N-linked (GlcNAc...) (complex) asparagine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine; by FAM20C
up seq anno comments: Plastocyanin-like
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: Reduced ferroxidase activity; may present a vulnerability factor for iron induced oxidative stress in Parkinson disease.
up seq anno comments: Retained in the ER due to impaired N-glycosylation; may present a vulnerability factor for iron induced oxidative stress in Parkinson disease.
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_0000002912
up seq anno feature ids: PRO_5014296989
up seq anno feature ids: VAR_025655
up seq anno feature ids: VAR_025656
up seq anno feature ids: VAR_025657
up seq anno feature ids: VAR_025658
up seq anno feature ids: VAR_025659
up seq anno feature ids: VAR_025660
up seq anno feature ids: VAR_032815

9606:PRR20D
gene id: 9606:PRR20D
uniprot id: P86478
uniprot id: P86479
uniprot id: P86480
uniprot id: P86481
uniprot id: P86496
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
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:DDT
gene id: 9606:DDT
uniprot id: P30046
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: 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 labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: D-dopachrome decarboxylase
up seq anno comments: In isoform 2.
up seq anno comments: Loss of enzyme activity.
up seq anno comments: N-acetylproline
up seq anno comments: N6-acetyllysine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000158070
up seq anno feature ids: VSP_056953

9606:ZGLP1
gene id: 9606:ZGLP1
uniprot id: P0C6A0
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Zinc Finger
up seq anno comments: GATA-type
up seq anno comments: GATA-type zinc finger protein 1
up seq anno feature ids: PRO_0000317557

9606:MT1F
gene id: 9606:MT1F
uniprot id: P04733
up seq anno parent labels: Modification
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 labels: Modified Residue
up seq anno comments: Metallothionein-1F
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000197237

9606:TNFSF4
gene id: 9606:TNFSF4
uniprot id: A0A024R937
uniprot id: P23510
up 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 labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation 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: 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: TNF_2
up seq anno comments: Tumor necrosis factor ligand superfamily member 4
up seq anno feature ids: PRO_0000185493
up seq anno feature ids: VSP_056288

9606:STK3
gene id: 9606:STK3
uniprot id: A0A087WZ06
uniprot id: A0A384MR07
uniprot id: Q13188
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: Secondary Structure
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: 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: In an ovarian clear cell carcinoma sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of activity.
up seq anno comments: N-acetylmethionine
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: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Resistant to proteolytic cleavage.
up seq anno comments: SARAH
up seq anno comments: Serine/threonine-protein kinase 3
up seq anno comments: Serine/threonine-protein kinase 3 20kDa subunit
up seq anno comments: Serine/threonine-protein kinase 3 36kDa subunit
up seq anno feature ids: PRO_0000086689
up seq anno feature ids: PRO_0000413713
up seq anno feature ids: PRO_0000413714
up seq anno feature ids: VAR_041122
up seq anno feature ids: VAR_051670
up seq anno feature ids: VSP_054167

9606:ZNF514
gene id: 9606:ZNF514
uniprot id: Q96K75
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: 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: KRAB
up seq anno comments: Zinc finger protein 514
up seq anno feature ids: PRO_0000047633

9606:AP2B1
gene id: 9606:AP2B1
uniprot id: A0A140VJE8
uniprot id: P63010
uniprot id: Q96EL6
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: Secondary Structure
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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: AP-2 complex subunit beta
up seq anno comments: Abolishes interaction with LDLRAP1 and ARRB1. Greatly reduces DENND1B-binding.
up seq anno comments: Alpha_adaptinC2
up seq anno comments: B2-adapt-app_C
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-acetylthreonine
up seq anno comments: N6-acetyllysine
up seq anno comments: No effect on interaction with ARRB1.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Phosphotyrosine; by SRC
up seq anno comments: Removed
up seq anno comments: Strongly reduces interaction with ARRB1.
up seq anno comments: Strongly reduces interaction with EPN1. Reduces interaction with SNAP91 and clathrin. No effect on EPS15 binding.
up seq anno comments: Strongly reduces interaction with LDLRAP1 and ARRB1. No effect on DENND1B-binding.
up seq anno comments: Strongly reduces interaction with LDLRAP1, ARRB1 and EPN1. No effect on DENND1B-binding.
up seq anno comments: Strongly reduces interaction with LDLRAP1. SNAP91 and clathrin. Reduces interaction with EPN1. No effect on EPS15 binding.
up seq anno comments: Strongly reduces interaction with SNAP91, EPN1 and clathrin. No effect on EPS15 binding. Abolishes interaction with ARRB1 and with DENND1B.
up seq anno comments: Strongly reduces interaction with SNAP91, EPS15, AMPH and BIN1 and clathrin heavy chain.
up seq anno feature ids: PRO_0000193742
up seq anno feature ids: VSP_011490
up seq anno feature ids: VSP_047805

9606:GABPB1
gene id: 9606:GABPB1
uniprot id: A0A024R5R5
uniprot id: A0A024R5X6
uniprot id: Q06547
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 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: 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: 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 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:ANXA6
gene id: 9606:ANXA6
uniprot id: A0A0S2Z2Z6
uniprot id: P08133
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: 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 labels: Non-terminal 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: 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 5
up seq anno comments: Annexin 6
up seq anno comments: Annexin 7
up seq anno comments: Annexin 8
up seq anno comments: Annexin A6
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: Phosphotyrosine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000067494
up seq anno feature ids: VSP_045480

9606:CHST5
gene id: 9606:CHST5
uniprot id: Q9GZS9
up 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: Site
up seq anno labels: Binding Site
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: Carbohydrate sulfotransferase 5
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_0000085195
up seq anno feature ids: VAR_021416
up seq anno feature ids: VAR_057993
up seq anno feature ids: VSP_037526

9606:ANKRD27
gene id: 9606:ANKRD27
uniprot id: Q96NW4
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: Secondary Structure
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: 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: 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: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
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:PPP2R2C
gene id: 9606:PPP2R2C
uniprot id: Q9Y2T4
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 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: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B gamma isoform
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_0000071428
up seq anno feature ids: VSP_036457
up seq anno feature ids: VSP_036458
up seq anno feature ids: VSP_043380

9606:GHR
gene id: 9606:GHR
uniprot id: A0A087X0H5
uniprot id: A0A087X162
uniprot id: P10912
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: Secondary Structure
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: 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: Benign variant; associated with lower plasma HDL cholesterol levels in hypercholesterolemia patients that carry a pathogenic variant in LDLR.
up seq anno comments: Box 1 motif
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Fibronectin type-III
up seq anno comments: Found in a patient with idiopathic short stature; unknown pathological significance.
up seq anno comments: Growth hormone receptor
up seq anno comments: Growth hormone-binding protein
up seq anno comments: Helical
up seq anno comments: In GHIP.
up seq anno comments: In LARS and GHIP.
up seq anno comments: In LARS.
up seq anno comments: In LARS; abolishes receptor homodimerization.
up seq anno comments: In LARS; almost completely abolishes GH-binding at cell surface and in membrane fractions.
up seq anno comments: In LARS; almost completely abolishes GH-binding at cell surface: 26% binding to membrane fractions.
up seq anno comments: In LARS; almost completely abolishes GH-binding at cell surface: 53% binding to membrane fractions.
up seq anno comments: In LARS; disrupts GH binding.
up seq anno comments: In LARS; loss of ability to bind ligand.
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: No change in shedding activity: No change in hormone binding.
up seq anno comments: Phosphoserine
up seq anno comments: UbE motif
up seq anno comments: WSXWS motif
up seq anno feature ids: PRO_0000010957
up seq anno feature ids: PRO_0000010958
up seq anno feature ids: PRO_5001832168
up seq anno feature ids: PRO_5001832170
up seq anno feature ids: VAR_002708
up seq anno feature ids: VAR_002709
up seq anno feature ids: VAR_002710
up seq anno feature ids: VAR_002711
up seq anno feature ids: VAR_002712
up seq anno feature ids: VAR_002713
up seq anno feature ids: VAR_002714
up seq anno feature ids: VAR_002715
up seq anno feature ids: VAR_002716
up seq anno feature ids: VAR_013937
up seq anno feature ids: VAR_013938
up seq anno feature ids: VAR_013939
up seq anno feature ids: VAR_013940
up seq anno feature ids: VAR_013941
up seq anno feature ids: VAR_013942
up seq anno feature ids: VAR_018426
up seq anno feature ids: VAR_018427
up seq anno feature ids: VAR_018428
up seq anno feature ids: VAR_018429
up seq anno feature ids: VAR_018430
up seq anno feature ids: VAR_018431
up seq anno feature ids: VAR_018432
up seq anno feature ids: VAR_018433

9606:C17orf100
gene id: 9606:C17orf100
uniprot id: A8MU93
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 comments: Basic and acidic residues
up seq anno comments: Polar residues
up seq anno comments: Uncharacterized protein C17orf100
up seq anno feature ids: PRO_0000340708

9606:NPIPB6
gene id: 9606:NPIPB6
uniprot id: B2RXF8
uniprot id: E9PJ23
uniprot id: E9PS57
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: Signal Peptide
up seq anno comments: Basic and acidic residues
up seq anno comments: Nuclear pore complex-interacting protein family member B6
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000423921
up seq anno feature ids: PRO_5002780446
up seq anno feature ids: PRO_5003244200

9606:HNRNPUL2
gene id: 9606:HNRNPUL2
uniprot id: Q1KMD3
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: Modified Residue
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: 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:CHMP1B
gene id: 9606:CHMP1B
uniprot id: Q7LBR1
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: 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: Motif
up seq anno labels: Mutagenesis Site
up seq anno comments: Abolishes interaction with SPAST and VPS4A; when associated with A-188.
up seq anno comments: Abolishes interaction with SPAST and VPS4A; when associated with A-192.
up seq anno comments: Abolishes interaction with SPAST and no effect on interaction with VPS4A; when associated with R-178 and R-181.
up seq anno comments: Abolishes interaction with SPAST and no effect on interaction with VPS4A; when associated with R-181 and R-184.
up seq anno comments: Abolishes interaction with SPAScT and no effect on interaction with VPS4A; when associated with R-178 and R-184.
up seq anno comments: Abolishes interaction with VPS4B.
up seq anno comments: Charged multivesicular body protein 1b
up seq anno comments: Decreases interaction with SPAST.
up seq anno comments: Diminishes interaction with VPS4B.
up seq anno comments: MIT-interacting motif
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000211454

9606:TOLLIP
gene id: 9606:TOLLIP
uniprot id: B3KR28
uniprot id: F2Z2Y8
uniprot id: Q6FIE9
uniprot id: Q8N8J5
uniprot id: Q9H0E2
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: Secondary Structure
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: 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: AIM1
up seq anno comments: AIM2
up seq anno comments: C2
up seq anno comments: CUE
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylalanine
up seq anno comments: Reduced interaction with TOM1.
up seq anno comments: Reduced interaction with TOM1; when associated with Ala-12.
up seq anno comments: Reduced interaction with TOM1; when associated with Ala-20.
up seq anno comments: Reduced interaction with TOM1; when associated with Ala-23.
up seq anno comments: Reduced interaction with TOM1; when associated with Ala-9.
up seq anno comments: Removed
up seq anno comments: Toll-interacting protein
up seq anno feature ids: PRO_0000072625
up seq anno feature ids: VAR_034557
up seq anno feature ids: VAR_079499
up seq anno feature ids: VSP_056301

9606:REEP4
gene id: 9606:REEP4
uniprot id: E5RGS2
uniprot id: Q9H6H4
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
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: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Receptor expression-enhancing protein
up seq anno comments: Receptor expression-enhancing protein 4
up seq anno feature ids: PRO_0000101830
up seq anno feature ids: PRO_5003198348
up seq anno feature ids: VSP_016636
up seq anno feature ids: VSP_016637

9606:SESN1
gene id: 9606:SESN1
uniprot id: Q9Y6P5
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: 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: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Cysteine sulfenic acid (-SOH) intermediate
up seq anno comments: In isoform T1.
up seq anno comments: In isoform T3.
up seq anno comments: Loss of the ability to decrease intracellular reactive oxygen species.
up seq anno comments: Phosphoserine
up seq anno comments: Sestrin-1
up seq anno feature ids: PRO_0000221178
up seq anno feature ids: VAR_014210
up seq anno feature ids: VSP_006059
up seq anno feature ids: VSP_006060

9606:CSTF1
gene id: 9606:CSTF1
uniprot id: Q05048
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: Helix
up seq anno labels: Repeat
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Cleavage stimulation factor subunit 1
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_0000050944

9606:PDAP1
gene id: 9606:PDAP1
uniprot id: Q13442
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno comments: 28 kDa heat- and acid-stable phosphoprotein
up seq anno comments: Basic and acidic residues
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: N6-methyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno feature ids: PRO_0000083897

9606:DPP6
gene id: 9606:DPP6
uniprot id: A7E2E4
uniprot id: B7Z299
uniprot id: E9PDL2
uniprot id: E9PF59
uniprot id: P42658
uniprot id: Q8IYG9
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: Secondary Structure
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: 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: DPPIV_N
up seq anno comments: Dipeptidyl aminopeptidase-like protein 6
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 MRD33.
up seq anno comments: In isoform DPPX-S.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Peptidase_S9
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000122409
up seq anno feature ids: VAR_051579
up seq anno feature ids: VAR_073680
up seq anno feature ids: VSP_005365

9606:WNT9B
gene id: 9606:WNT9B
uniprot id: E7EPC3
uniprot id: O14905
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: N-linked (GlcNAc...) asparagine
up seq anno comments: O-palmitoleoyl serine; by PORCN
up seq anno comments: Protein Wnt
up seq anno comments: Protein Wnt-9b
up seq anno feature ids: PRO_0000041458
up seq anno feature ids: PRO_5014088878
up seq anno feature ids: VAR_030839

9606:SHOC2
gene id: 9606:SHOC2
uniprot id: Q9UQ13
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 labels: Chain
up seq anno labels: Compositionally Biased 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: In NSLH1; creates a N-myristoylation site, resulting in myristoylation of the protein and aberrant targeting to the plasma membrane.
up seq anno comments: In NSLH1; significantly decreases ERK1/2 activity; does not affect cytoplasm and nucleus localization; does not affect SHOC2-MRAS-RAF1 complex assembly; impairs interaction with phosphatase 1c.
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 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 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 protein SHOC-2
up seq anno feature ids: PRO_0000097737
up seq anno feature ids: VAR_060199
up seq anno feature ids: VAR_074030
up seq anno feature ids: VSP_038188

9606:PILRB
gene id: 9606:PILRB
uniprot id: Q9UKJ0
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: Secondary Structure
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 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: 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 3.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Paired immunoglobulin-like type 2 receptor beta
up seq anno feature ids: PRO_0000226822
up seq anno feature ids: VAR_059406
up seq anno feature ids: VAR_059407
up seq anno feature ids: VSP_017503
up seq anno feature ids: VSP_017504

9606:MGAT4B
gene id: 9606:MGAT4B
uniprot id: Q9UQ53
up 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 labels: Chain
up seq anno labels: Coiled-Coil
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 B
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: In isoform 3.
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000288593
up seq anno feature ids: VAR_032446
up seq anno feature ids: VAR_053913
up seq anno feature ids: VSP_025716
up seq anno feature ids: VSP_043231

9606:KRTAP1-4
gene id: 9606:KRTAP1-4
uniprot id: P0C5Y4
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno comments: Keratin-associated protein 1-4
up seq anno feature ids: PRO_0000312505

9606:EFCAB5
gene id: 9606:EFCAB5
uniprot id: A4FU69
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: 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: 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: EF-hand
up seq anno comments: EF-hand calcium-binding domain-containing protein 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: In isoform 5 and isoform 6.
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_0000315836
up seq anno feature ids: VAR_038343
up seq anno feature ids: VAR_038344
up seq anno feature ids: VAR_038345
up seq anno feature ids: VAR_048644
up seq anno feature ids: VAR_048645
up seq anno feature ids: VAR_048646
up seq anno feature ids: VSP_030732
up seq anno feature ids: VSP_030733
up seq anno feature ids: VSP_030734
up seq anno feature ids: VSP_030735
up seq anno feature ids: VSP_047184
up seq anno feature ids: VSP_047185
up seq anno feature ids: VSP_047186
up seq anno feature ids: VSP_055510

9606:OR10W1
gene id: 9606:OR10W1
uniprot id: Q8NGF6
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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 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: Olfactory receptor 10W1
up seq anno feature ids: PRO_0000150719
up seq anno feature ids: VAR_057568

9606:OR5M11
gene id: 9606:OR5M11
uniprot id: A0A126GVL9
uniprot id: Q96RB7
up 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 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_RECEP_F1_2
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 5M11
up seq anno feature ids: PRO_0000150609
up seq anno feature ids: VAR_034231
up seq anno feature ids: VAR_034232

9606:NDST3
gene id: 9606:NDST3
uniprot id: O95803
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: 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: 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: Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 3
up seq anno comments: Cytoplasmic
up seq anno comments: For sulfotransferase activity
up seq anno comments: Helical; Signal-anchor for type II membrane protein
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: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000225659
up seq anno feature ids: VAR_036131
up seq anno feature ids: VSP_017405
up seq anno feature ids: VSP_017406
up seq anno feature ids: VSP_054350
up seq anno feature ids: VSP_054351
up seq anno feature ids: VSP_054352

9606:PYM1
gene id: 9606:PYM1
uniprot id: Q9BRP8
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 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: 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: In isoform 2.
up seq anno comments: N-acetylmethionine
up seq anno comments: Partner of Y14 and mago
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000287285
up seq anno feature ids: VAR_032297
up seq anno feature ids: VSP_025430

9606:BBS4
gene id: 9606:BBS4
uniprot id: A0A0S2Z3A9
uniprot id: Q96RK4
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Non-terminal Residue
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Bardet-Biedl syndrome 4 protein
up seq anno comments: Found in patients with Bardet-Biedl syndrome carrying mutations in other BBS genes; uncertain pathological role.
up seq anno comments: In BBS4.
up seq anno comments: In a patient with Bardet-Biedl syndrome compound heterozygote for mutations in BBS1; uncertain pathological role.
up seq anno comments: In a patient with Bardet-Biedl syndrome homozygous for a mutation in BBS12; uncertain pathological role.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Polar residues
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_0000106263
up seq anno feature ids: VAR_013170
up seq anno feature ids: VAR_017049
up seq anno feature ids: VAR_017050
up seq anno feature ids: VAR_017051
up seq anno feature ids: VAR_017052
up seq anno feature ids: VAR_017053
up seq anno feature ids: VAR_017054
up seq anno feature ids: VAR_028722
up seq anno feature ids: VAR_028723
up seq anno feature ids: VAR_038894
up seq anno feature ids: VAR_038895
up seq anno feature ids: VAR_038896
up seq anno feature ids: VAR_038897
up seq anno feature ids: VAR_066287
up seq anno feature ids: VAR_066288
up seq anno feature ids: VAR_066289
up seq anno feature ids: VSP_024410
up seq anno feature ids: VSP_047507

9606:CCDC134
gene id: 9606:CCDC134
uniprot id: B0QY51
uniprot id: B4DRL0
uniprot id: Q9H6E4
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: Motif
up seq anno labels: Signal Peptide
up seq anno comments: Basic and acidic residues
up seq anno comments: Coiled-coil domain-containing protein 134
up seq anno comments: Nuclear localization signal
up seq anno feature ids: PRO_0000254109
up seq anno feature ids: PRO_5002753633
up seq anno feature ids: PRO_5002800985

9606:POLDIP3
gene id: 9606:POLDIP3
uniprot id: B4E0L0
uniprot id: F6VRR5
uniprot id: Q659C6
uniprot id: Q9BY77
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 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: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
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: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by RPS6KB1
up seq anno comments: Phosphothreonine
up seq anno comments: Polymerase delta-interacting protein 3
up seq anno comments: RRM
up seq anno comments: Reduces in vitro phosphorylation by RPS6KB1. Abolishes in vitro phosphorylation by RPS6KB1; when associated with A-385.
up seq anno comments: Reduces in vitro phosphorylation by RPS6KB1. Reduces in vitro phosphorylation by RPS6KB1; when associated with A-383.
up seq anno comments: Removed
up seq anno feature ids: PRO_0000081722
up seq anno feature ids: VSP_011056

9606:CNIH3
gene id: 9606:CNIH3
uniprot id: Q8TBE1
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
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: Helical
up seq anno comments: Lumenal
up seq anno comments: Protein cornichon homolog 3
up seq anno feature ids: PRO_0000122228

9606:CRIP3
gene id: 9606:CRIP3
uniprot id: Q6Q6R5
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Cysteine-rich protein 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: LIM zinc-binding 1
up seq anno comments: LIM zinc-binding 2
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000225638
up seq anno feature ids: VSP_017391
up seq anno feature ids: VSP_017392
up seq anno feature ids: VSP_017393

9606:DHRS13
gene id: 9606:DHRS13
uniprot id: Q6UX07
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Dehydrogenase/reductase SDR family member 13
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_0000311920
up seq anno feature ids: VAR_037348
up seq anno feature ids: VAR_037349
up seq anno feature ids: VSP_029640
up seq anno feature ids: VSP_057529

9606:CD300H
gene id: 9606:CD300H
uniprot id: A0A0K2S4Q6
up 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 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: 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: Protein CD300H
up seq anno feature ids: PRO_5014029141
up seq anno feature ids: VSP_059910
up seq anno feature ids: VSP_059911

9606:ZBTB49
gene id: 9606:ZBTB49
uniprot id: Q6ZSB9
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: 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: 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:FATE1
gene id: 9606:FATE1
uniprot id: Q969F0
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 labels: Chain
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
up seq anno comments: 16% of the population; infertile and fertile individuals.
up seq anno comments: Fetal and adult testis-expressed transcript protein
up seq anno comments: Helical
up seq anno comments: Impairs association with mitochondria.
up seq anno comments: In fertile and infertile individuals.
up seq anno feature ids: PRO_0000087200
up seq anno feature ids: VAR_016917
up seq anno feature ids: VAR_016918
up seq anno feature ids: VAR_016919

9606:COMP
gene id: 9606:COMP
uniprot id: P49747
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: Secondary Structure
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: 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: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Cartilage oligomeric matrix protein
up seq anno comments: Cell attachment site
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
up seq anno comments: In CTS2; reduced secretion in tendon cells; no effect on secretion in chondrocytes; disrupted pentamerization; induced ER stress.
up seq anno comments: In EDM1 and CTS2; reduced secretion in tendon cells and chondrocytes.
up seq anno comments: In EDM1 and PSACH.
up seq anno comments: In EDM1.
up seq anno comments: In EDM1; Fairbank type.
up seq anno comments: In EDM1; Ribbing type.
up seq anno comments: In EDM1; atypical form.
up seq anno comments: In EDM1; binds less calcium.
up seq anno comments: In EDM1; phenotype overlapping with mild PSACH.
up seq anno comments: In EDM1; phenotypic features overlapping with mild PSACH.
up seq anno comments: In PSACH.
up seq anno comments: In PSACH; mild form and EDM1.
up seq anno comments: In PSACH; mild form.
up seq anno comments: In PSACH; severe form.
up seq anno comments: In PSACH; severe form; MUT3 mutant; most common mutation; binds less calcium and causes misfolding of the protein; greatly reduced interaction with ACAN; reduced interaction with collagen.
up seq anno comments: In PSACH; severe.
up seq anno comments: In a patient with multiple epiphyseal dysplasia.
up seq anno comments: In isoform 2.
up seq anno comments: Interchain
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: TSP C-terminal
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 feature ids: PRO_0000035857
up seq anno feature ids: VAR_007614
up seq anno feature ids: VAR_007615
up seq anno feature ids: VAR_007616
up seq anno feature ids: VAR_007617
up seq anno feature ids: VAR_007618
up seq anno feature ids: VAR_007619
up seq anno feature ids: VAR_007620
up seq anno feature ids: VAR_007621
up seq anno feature ids: VAR_007622
up seq anno feature ids: VAR_007623
up seq anno feature ids: VAR_007624
up seq anno feature ids: VAR_007625
up seq anno feature ids: VAR_007626
up seq anno feature ids: VAR_007627
up seq anno feature ids: VAR_007628
up seq anno feature ids: VAR_007629
up seq anno feature ids: VAR_007630
up seq anno feature ids: VAR_007631
up seq anno feature ids: VAR_007632
up seq anno feature ids: VAR_007633

9606:AAMDC
gene id: 9606:AAMDC
uniprot id: Q9H7C9
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
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 comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Mth938 domain-containing protein
up seq anno feature ids: PRO_0000239814
up seq anno feature ids: VAR_052696
up seq anno feature ids: VSP_019266
up seq anno feature ids: VSP_019267
up seq anno feature ids: VSP_019268
up seq anno feature ids: VSP_019269

9606:PAPOLB
gene id: 9606:PAPOLB
uniprot id: A4D1Z6
uniprot id: Q9NRJ5
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: 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: Sequence Conflict
up seq anno comments: NTP_transf_2
up seq anno comments: PAP_RNA-bind
up seq anno comments: PAP_central
up seq anno comments: Poly(A) polymerase beta
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000051622

9606:PLGLB1
gene id: 9606:PLGLB1
uniprot id: Q02325
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: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Signal Peptide
up seq anno comments: PAN
up seq anno comments: Plasminogen-like protein B
up seq anno feature ids: PRO_0000022105

9606:SRSF3
gene id: 9606:SRSF3
uniprot id: B2R6F3
uniprot id: P84103
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: Secondary Structure
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: Repeat
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes interaction with NXF1.
up seq anno comments: B-1
up seq anno comments: B-2
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
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: Serine/arginine-rich splicing factor 3
up seq anno feature ids: PRO_0000081923
up seq anno feature ids: VSP_056243

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: 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 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: 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: Topological Domain
up seq anno labels: Transmembrane
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_RECEP_F1_2
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
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: S-palmitoyl cysteine
up seq anno feature ids: PRO_0000069972
up seq anno feature ids: VAR_009524
up seq anno feature ids: VAR_009525
up seq anno feature ids: VAR_009526
up seq anno feature ids: VAR_009527
up seq anno feature ids: VAR_019252
up seq anno feature ids: VAR_019253
up seq anno feature ids: VAR_019254
up seq anno feature ids: VAR_049426
up seq anno feature ids: VAR_049427
up seq anno feature ids: VAR_082952
up seq anno feature ids: VAR_082953
up seq anno feature ids: VSP_001896
up seq anno feature ids: VSP_037693
up seq anno feature ids: VSP_037694
up seq anno feature ids: VSP_037695
up seq anno feature ids: VSP_037696
up seq anno feature ids: VSP_037697

9606:IL11
gene id: 9606:IL11
uniprot id: A8K3F7
uniprot id: P20809
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: Secondary Structure
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: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: Increases affinity for IL11RA and stimulation of cell proliferation.
up seq anno comments: Interleukin-11
up seq anno comments: Strongly increases affinity for IL11RA and stimulation of cell proliferation.
up seq anno feature ids: PRO_0000015618
up seq anno feature ids: PRO_5014297536
up seq anno feature ids: VAR_016313
up seq anno feature ids: VAR_016314
up seq anno feature ids: VSP_046936

9606:FAM216A
gene id: 9606:FAM216A
uniprot id: Q8WUB2
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Protein FAM216A
up seq anno feature ids: PRO_0000288861
up seq anno feature ids: VAR_032513

9606:TAPBPL
gene id: 9606:TAPBPL
uniprot id: Q9BX59
up 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 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: 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: Helical
up seq anno comments: Ig-like C1-type
up seq anno comments: Ig-like V-type
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 eta.
up seq anno comments: In isoform gamma.
up seq anno comments: In isoform zeta.
up seq anno comments: Lumenal
up seq anno comments: Tapasin-related protein
up seq anno feature ids: PRO_0000014993
up seq anno feature ids: VAR_033627
up seq anno feature ids: VAR_056090
up seq anno feature ids: VAR_071757
up seq anno feature ids: VAR_071758
up seq anno feature ids: VAR_071759
up seq anno feature ids: VAR_071760
up seq anno feature ids: VSP_057089
up seq anno feature ids: VSP_057090
up seq anno feature ids: VSP_057091
up seq anno feature ids: VSP_057092
up seq anno feature ids: VSP_057093
up seq anno feature ids: VSP_057094
up seq anno feature ids: VSP_057095
up seq anno feature ids: VSP_057096

9606:PEAK3
gene id: 9606:PEAK3
uniprot id: Q6ZS72
up seq anno parent labels: Experimental Information
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: Mutagenesis Site
up seq anno comments: Abolishes homodimerization and interaction with CRK isoform CRK-II.
up seq anno comments: Abolishes interaction with CRK isoform CRK-II. Abolishes inhibition of CRK-II-dependent membrane ruffling.
up seq anno comments: Pro residues
up seq anno comments: Protein PEAK3
up seq anno comments: Strongly decreases homodimerization and interaction with CRK isoform CRK-II.
up seq anno feature ids: PRO_0000277808

9606:TSR2
gene id: 9606:TSR2
uniprot id: Q969E8
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno comments: In DBA14.
up seq anno comments: Pre-rRNA-processing protein TSR2 homolog
up seq anno feature ids: PRO_0000285587
up seq anno feature ids: VAR_073396

9606:ABCD4
gene id: 9606:ABCD4
uniprot id: A0A024R6B9
uniprot id: O14678
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: 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 labels: Transmembrane
up seq anno comments: ABC transmembrane type-1
up seq anno comments: ABC transporter
up seq anno comments: Decreases ATPase activity. Reduces synthesis of adenosylcobalamin and methylcobalamin.
up seq anno comments: Decreases interaction with LMBD1. Decreases colocalization with LMBD1. Decreases cobalamin transport activity.
up seq anno comments: Decreases interaction with LMBD1. Decreases colocalization with LMBD1. Decreases cobalamin transport activity. Reduces synthesis of adenosylcobalamin and methylcobalamin.
up seq anno comments: Decreases interaction with LMBD1. Reduces synthesis of adenosylcobalamin and methylcobalamin.
up seq anno comments: Decreases of ATPase activity. Decreases cobalamin transport activity.
up seq anno comments: Does not affect ATPase activity. Does not affect cobalamin transport activity.
up seq anno comments: Does not affect ATPase nor cobalamin transport activities.
up seq anno comments: Helical
up seq anno comments: In MAHCJ; decreases interaction with LMBD1. Does not affect lysosomal subcellular location. Decreases ATPase activity.
up seq anno comments: In MAHCJ; does not affect ATPase activity. Loss of cobalamin transport activity. Decreases interaction with LMBD1. Does not affect lysosomal subcellular location.
up seq anno comments: In MAHCJ; strong decrease of ATPase activity. Strong decrease of cobalamin transport activity.
up seq anno comments: Loss of ATPase activity. Loss of cobalamin transport activity.
up seq anno comments: Lysosomal cobalamin transporter ABCD4
up seq anno feature ids: PRO_0000093312
up seq anno feature ids: VAR_020222
up seq anno feature ids: VAR_020778
up seq anno feature ids: VAR_048134
up seq anno feature ids: VAR_048135
up seq anno feature ids: VAR_069097
up seq anno feature ids: VAR_084972
up seq anno feature ids: VAR_084973

9606:TAS2R42
gene id: 9606:TAS2R42
uniprot id: A0A0G2JPZ2
up seq anno parent labels: Region
up seq anno labels: Domain Extent
up seq anno labels: Transmembrane
up seq anno comments: G_PROTEIN_RECEP_F1_2
up seq anno comments: Helical

9606:RFX3
gene id: 9606:RFX3
uniprot id: P48380
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 labels: Chain
up seq anno labels: DNA Binding
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: RFX-type winged-helix
up seq anno comments: Transcription factor RFX3
up seq anno feature ids: PRO_0000215290
up seq anno feature ids: VSP_007626
up seq anno feature ids: VSP_007627
up seq anno feature ids: VSP_015162
up seq anno feature ids: VSP_015163

9606:ROGDI
gene id: 9606:ROGDI
uniprot id: Q9GZN7
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: 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 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: Decreased protein stability.
up seq anno comments: In KTZS.
up seq anno comments: In KTZS; unknown pathological significance.
up seq anno comments: N-acetylalanine
up seq anno comments: Protein rogdi homolog
up seq anno comments: Removed
up seq anno feature ids: PRO_0000315664
up seq anno feature ids: VAR_038273
up seq anno feature ids: VAR_084016
up seq anno feature ids: VAR_084017
up seq anno feature ids: VAR_084018

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: 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 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: 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: 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:SCN2A
gene id: 9606:SCN2A
uniprot id: Q99250
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: Secondary Structure
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: 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: Basic and acidic residues
up seq anno comments: Cytoplasmic
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
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: IQ
up seq anno comments: IV
up seq anno comments: In BFIS3.
up seq anno comments: In BFIS3; gain of function mutation; hyperpolarizing shift of the activation curve.
up seq anno comments: In BFIS3; increased voltage-gated sodium channel activity; decreased overall channel availability during repetitive stimulation; gain of function; no effect on kinetics of activation or inactivation; no effect on voltage dependence of activation.
up seq anno comments: In BFIS3; increased voltage-gated sodium channel activity; depolarized shift of steady-state inactivation; increased persistent sodium current; slower fast inactivation; accelerated recovery of fast inactivation; gain of function.
up seq anno comments: In BFIS3; increased voltage-gated sodium channel activity; faster recovery from inactivation; gain of function.
up seq anno comments: In BFIS3; increased voltage-gated sodium channel activity; gain of function.
up seq anno comments: In BFIS3; increased voltage-gated sodium channel activity; impaired fast inactivation; no effect on kinetics of activation or inactivation; no effect on voltage dependence of activation; gain of function.
up seq anno comments: In BFIS3; increased voltage-gated sodium channel activity; increased persistent sodium current; gain of function.
up seq anno comments: In BFIS3; increased voltage-gated sodium channel activity; modified voltage dependence of activation and inactivation; gain of function.
up seq anno comments: In BFIS3; modified voltage-gated sodium channel activity; modified voltage dependence of activation and inactivation.
up seq anno comments: In BFIS3; mutant channel inactivates more slowly than wild-type whereas the sodium channel conductance is not affected.
up seq anno comments: In BFIS3; unknown pathological significance.
up seq anno comments: In DEE11 and EA9; increased voltage-gated sodium channel activity; increased persistent sodium current; gain of function.
up seq anno comments: In DEE11 and EA9; unknown pathological significance; no effect on voltage-gated sodium channel activity; higher current density when associated with G-1882.

9606:ASPA
gene id: 9606:ASPA
uniprot id: P45381
uniprot id: Q6FH48
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: Secondary Structure
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: 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: 5-fold decrease in activity.
up seq anno comments: Abolishes enzymatic activity.
up seq anno comments: Aspartoacylase
up seq anno comments: In CAND.
up seq anno comments: In CAND; 12% residual enzyme activity.
up seq anno comments: In CAND; 3% residual enzyme activity.
up seq anno comments: In CAND; 5.5% residual enzyme activity.
up seq anno comments: In CAND; <0.5% residual enzyme activity.
up seq anno comments: In CAND; <1% residual enzyme activity.
up seq anno comments: In CAND; Loss of catalytic activity.
up seq anno comments: In CAND; about 25% residual enzyme activity.
up seq anno comments: In CAND; loss of activity.
up seq anno comments: In CAND; pan-European origin; most prevalent among non-Jewish CAND patients; probably the most ancient mutation; loss of activity.
up seq anno comments: In CAND; predominant mutation in Ashkenazi Jewish population; 99% loss of activity.
up seq anno comments: In CAND; undetectable enzyme activity.
up seq anno comments: Reduces activity by 99%.
up seq anno feature ids: PRO_0000216871
up seq anno feature ids: VAR_004995
up seq anno feature ids: VAR_004996
up seq anno feature ids: VAR_004997
up seq anno feature ids: VAR_004998
up seq anno feature ids: VAR_004999
up seq anno feature ids: VAR_005000
up seq anno feature ids: VAR_005001
up seq anno feature ids: VAR_016778
up seq anno feature ids: VAR_016779
up seq anno feature ids: VAR_016780
up seq anno feature ids: VAR_016781
up seq anno feature ids: VAR_016782
up seq anno feature ids: VAR_016783
up seq anno feature ids: VAR_016784
up seq anno feature ids: VAR_016785
up seq anno feature ids: VAR_016786
up seq anno feature ids: VAR_016787
up seq anno feature ids: VAR_016788
up seq anno feature ids: VAR_039079
up seq anno feature ids: VAR_039080
up seq anno feature ids: VAR_039081
up seq anno feature ids: VAR_039082
up seq anno feature ids: VAR_039083
up seq anno feature ids: VAR_039084
up seq anno feature ids: VAR_039085
up seq anno feature ids: VAR_039086
up seq anno feature ids: VAR_039087
up seq anno feature ids: VAR_039088
up seq anno feature ids: VAR_039089
up seq anno feature ids: VAR_039090
up seq anno feature ids: VAR_039091
up seq anno feature ids: VAR_078086
up seq anno feature ids: VAR_078087
up seq anno feature ids: VAR_078088
up seq anno feature ids: VAR_078089
up seq anno feature ids: VAR_078090
up seq anno feature ids: VAR_078091
up seq anno feature ids: VAR_078092
up seq anno feature ids: VAR_078093
up seq anno feature ids: VAR_078094
up seq anno feature ids: VAR_078095
up seq anno feature ids: VAR_078096
up seq anno feature ids: VAR_078097
up seq anno feature ids: VAR_078098

9606:ISY1
gene id: 9606:ISY1
uniprot id: Q9ULR0
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Acidic residues
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:GNG2
gene id: 9606:GNG2
uniprot id: P59768
up seq anno parent labels: Modification
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: Lipid Binding
up seq anno labels: Modified Residue
up seq anno labels: Propeptide
up seq anno labels: Turn
up seq anno comments: Cysteine methyl ester
up seq anno comments: Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2
up seq anno comments: N-acetylalanine
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_0000012611
up seq anno feature ids: PRO_0000012612

9606:PAG1
gene id: 9606:PAG1
uniprot id: Q9NWQ8
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 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: Sequence Conflict
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: Extracellular
up seq anno comments: Helical; Signal-anchor for type III membrane protein
up seq anno comments: No effect on interaction with FYN or CSK.
up seq anno comments: No effect on interaction with FYN. Abolishes interaction with CSK.
up seq anno comments: Phosphoprotein associated with glycosphingolipid-enriched microdomains 1
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Phosphotyrosine; by FYN and LYN
up seq anno comments: Phosphotyrosine; by LYN
up seq anno comments: Polar residues
up seq anno comments: S-palmitoyl cysteine
up seq anno feature ids: PRO_0000083338

9606:SIRT1
gene id: 9606:SIRT1
uniprot id: A0A024QZQ1
uniprot id: A8K128
uniprot id: B0QZ35
uniprot id: E9PC49
uniprot id: Q96EB6
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: Secondary Structure
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: 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: Abolishes phosphorylation at Ser-47, restores deacetylation activity and inhibits DNA damage-induced apoptosis.
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Blocks residue phosphorylation, restores deacetylation activity and inhibits DNA damage-induced apoptosis.
up seq anno comments: Deacetylase sirtuin-type
up seq anno comments: Greatly diminishes phosphorylation by MAPK8; when associated with A-27 and A-47.
up seq anno comments: Greatly diminishes phosphorylation by MAPK8; when associated with A-27 and A-530.
up seq anno comments: Greatly diminishes phosphorylation by MAPK8; when associated with A-47 and A-530.
up seq anno comments: Impairs in vitro methylation by SETD7; when associated with R-233, R-235 and R-238.
up seq anno comments: Impairs in vitro methylation by SETD7; when associated with R-233, R-235a and R-236.
up seq anno comments: Impairs in vitro methylation by SETD7; when associated with R-233, R-236 and R-238.
up seq anno comments: Impairs in vitro methylation by SETD7; when associated with R-235, R-236 and R-238.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of function; abolishes both protein deacetylase and decrotonylase activities. Reduces the interaction with CCAR2 and APEX1. Increases acetylation of APEX1.
up seq anno comments: Loss of interaction with the sumoylated form of CCAR2. No effect on its deacetylation activity.
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: NAD-dependent protein deacetylase sirtuin-1
up seq anno comments: No effect on phosphorylation (in vitro and in vivo).
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 CaMK2
up seq anno comments: Phosphoserine; by MAPK8
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by DYRK1A, DYRK3 and MAPK8
up seq anno comments: Polar residues
up seq anno comments: Proton acceptor
up seq anno comments: Reduces in vitro phosphorylation by CDK1. Impairs cell proliferation and cell cycle progression; when associated with A-530.
up seq anno comments: Reduces in vitro phosphorylation by CDK1. Impairs cell proliferation and cell cycle progression; when associated with A-540.
up seq anno comments: Reduces in vitro phosphorylation by CaMK2; when associated with S-659. Greatly reduces in vivo phosphorylation; when associated with A-659.
up seq anno comments: Reduces in vitro phosphorylation by CaMK2; when associated with S-661. Greatly reduces in vivo phosphorylation; when associated with A-661.
up seq anno comments: Removed
up seq anno comments: S-nitrosocysteine
up seq anno comments: SirtT1 75 kDa fragment
up seq anno feature ids: PRO_0000110256
up seq anno feature ids: PRO_0000415289
up seq anno feature ids: VAR_025148
up seq anno feature ids: VAR_051976
up seq anno feature ids: VSP_042189

9606:TANK
gene id: 9606:TANK
uniprot id: B2R7S3
uniprot id: Q6NW12
uniprot id: Q92844
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: Secondary Structure
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: 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 labels: Strand
up seq anno labels: Zinc Finger
up seq anno comments: Abolishes interaction with TRAF2 and TRAF3.
up seq anno comments: Abolishes interaction with TRAF2; greatly diminishes interaction with TRAF3.
up seq anno comments: Complete loss of cleavage by Seneca Valley virus protease 3C.
up seq anno comments: Diminishes interaction with TRAF2 and TRAF3.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform Short.
up seq anno comments: N-acetylmethionine
up seq anno comments: No effect on cleavage by Seneca Valley virus protease 3C.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: TRAF family member-associated NF-kappa-B activator
up seq anno comments: UBZ1-type
up seq anno feature ids: PRO_0000072427
up seq anno feature ids: VAR_051409
up seq anno feature ids: VAR_051410
up seq anno feature ids: VAR_051411
up seq anno feature ids: VSP_004442
up seq anno feature ids: VSP_004443
up seq anno feature ids: VSP_043702
up seq anno feature ids: VSP_043703

9606:TRIM44
gene id: 9606:TRIM44
uniprot id: Q96DX7
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: 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: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: Acidic residues
up seq anno comments: B box-type
up seq anno comments: Basic and acidic residues
up seq anno comments: Does not affect function in negative regulation of PAX6 expression.
up seq anno comments: In AN3; affects function and results in increased negative regulation of PAX6 expression compared to wild-type.
up seq anno comments: Phosphoserine
up seq anno comments: Tripartite motif-containing protein 44
up seq anno feature ids: PRO_0000220372
up seq anno feature ids: VAR_077852
up seq anno feature ids: VAR_077853

9606:GABRB1
gene id: 9606:GABRB1
uniprot id: P18505
uniprot id: X5DNL6
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: 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: 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: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Found in 1.1% of population and in some schizophrenic patients.
up seq anno comments: Gamma-aminobutyric acid receptor subunit beta-1
up seq anno comments: Helical
up seq anno comments: In DEE45.
up seq anno comments: In DEE45; no effect on localization to the plasma membrane; increased GABA-gated chloride ion channel activity; increased single channel burst duration.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Neur_chan_LBD
up seq anno comments: Neur_chan_memb
up seq anno feature ids: PRO_0000000456
up seq anno feature ids: PRO_5022269976
up seq anno feature ids: VAR_000302
up seq anno feature ids: VAR_035441
up seq anno feature ids: VAR_077104
up seq anno feature ids: VAR_077105
up seq anno feature ids: VSP_055900
up seq anno feature ids: VSP_055901

9606:CDK16
gene id: 9606:CDK16
uniprot id: A0A024R183
uniprot id: A0A140VK97
uniprot id: Q00536
uniprot id: Q9BRL4
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: Secondary Structure
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: 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 interaction with CCNY.
up seq anno comments: Abolishes phosphorylation by BRSK2. Abolishes effect on insulin secretion.
up seq anno comments: Constitutively activated, due to loss of an inhibitory phosphorylation site. Increases interaction with CCNY.
up seq anno comments: Cyclin-dependent kinase 16
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of kinase activity.
up seq anno comments: Loss of kinase activity. Abolishes effect on insulin secretion.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by BRSK2
up seq anno comments: Phosphoserine; by CDK5
up seq anno comments: Polar residues
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Strongly reduces interaction with CCNY.
up seq anno feature ids: PRO_0000086484
up seq anno feature ids: VSP_046134
up seq anno feature ids: VSP_046342

9606:OR7D4
gene id: 9606:OR7D4
uniprot id: A0A126GVR1
uniprot id: Q8NG98
up 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 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_RECEP_F1_2
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: High sensitivity to androstenone and androstadienone.
up seq anno comments: Impaired response to androstenone and androstadienone.
up seq anno comments: Impaired response to androstenone and androstadienone; when associated with M-133.
up seq anno comments: Impaired response to androstenone and androstadienone; when associated with W-88.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 7D4
up seq anno feature ids: PRO_0000150649
up seq anno feature ids: VAR_037778
up seq anno feature ids: VAR_037779
up seq anno feature ids: VAR_037780
up seq anno feature ids: VAR_037781
up seq anno feature ids: VAR_037782
up seq anno feature ids: VAR_037783
up seq anno feature ids: VAR_037784
up seq anno feature ids: VAR_037785
up seq anno feature ids: VAR_037786
up seq anno feature ids: VAR_037787
up seq anno feature ids: VAR_037788
up seq anno feature ids: VAR_037789
up seq anno feature ids: VAR_037790
up seq anno feature ids: VAR_062056

9606:KCNT1
gene id: 9606:KCNT1
uniprot id: A0A0R4J2E0
uniprot id: A0A6Q8PGM3
uniprot id: Q5JUK3
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 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: BK_channel_a
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
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 S4
up seq anno comments: Helical; Name=Segment S5
up seq anno comments: Helical; Name=Segment S6
up seq anno comments: In DEE14.
up seq anno comments: In DEE14; gain-of-function mutation.
up seq anno comments: In DEE14; unknown pathological significance.
up seq anno comments: In DEE14; variant homologue in rat has increased channel activity upon positive potentials.
up seq anno comments: In ENFL5.
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 3.
up seq anno comments: In isoform 4.
up seq anno comments: Ion_trans_2
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Pore-forming
up seq anno comments: Potassium channel subfamily T member 1
up seq anno comments: RCK N-terminal
up seq anno feature ids: PRO_0000054090
up seq anno feature ids: VAR_069311
up seq anno feature ids: VAR_069312
up seq anno feature ids: VAR_069313
up seq anno feature ids: VAR_069314
up seq anno feature ids: VAR_069315
up seq anno feature ids: VAR_069316
up seq anno feature ids: VAR_069317
up seq anno feature ids: VAR_069318
up seq anno feature ids: VAR_078214
up seq anno feature ids: VAR_078215
up seq anno feature ids: VAR_078641
up seq anno feature ids: VAR_078642
up seq anno feature ids: VAR_078683
up seq anno feature ids: VAR_078684
up seq anno feature ids: VAR_078685
up seq anno feature ids: VSP_015470
up seq anno feature ids: VSP_015471
up seq anno feature ids: VSP_044476
up seq anno feature ids: VSP_055700
up seq anno feature ids: VSP_055701

9606:CYP4B1
gene id: 9606:CYP4B1
uniprot id: P13584
uniprot id: Q8IZB0
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: 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 labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Cytochrome P450 4B1
up seq anno comments: Helical
up seq anno comments: In allele CYP4B1*2 and allele CYP4B1*7.
up seq anno comments: In allele CYP4B1*2, allele CYP4B1*7 and allele CYP4B1*5.
up seq anno comments: In allele CYP4B1*2.
up seq anno comments: In allele CYP4B1*3 and allele CYP4B1*6.
up seq anno comments: In allele CYP4B1*4.
up seq anno comments: In allele CYP4B1*6.
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: axial binding residue
up seq anno comments: covalent
up seq anno feature ids: PRO_0000051819
up seq anno feature ids: VAR_018357
up seq anno feature ids: VAR_018358
up seq anno feature ids: VAR_018359
up seq anno feature ids: VAR_018360
up seq anno feature ids: VAR_018361
up seq anno feature ids: VAR_018362
up seq anno feature ids: VAR_048453
up seq anno feature ids: VAR_048454
up seq anno feature ids: VAR_048455
up seq anno feature ids: VAR_048456
up seq anno feature ids: VAR_055377
up seq anno feature ids: VAR_055378
up seq anno feature ids: VSP_038419

9606:DCTN5
gene id: 9606:DCTN5
uniprot id: Q9BTE1
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Splice Variant
up seq anno comments: Dynactin subunit 5
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-acetylmethionine
up seq anno feature ids: PRO_0000079827
up seq anno feature ids: VSP_046023
up seq anno feature ids: VSP_046697

9606:SLC34A2
gene id: 9606:SLC34A2
uniprot id: O95436
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 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: 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=M1
up seq anno comments: Helical; Name=M2
up seq anno comments: Helical; Name=M3
up seq anno comments: Helical; Name=M4
up seq anno comments: Helical; Name=M5
up seq anno comments: Helical; Name=M6
up seq anno comments: Helical; Name=M7
up seq anno comments: Helical; Name=M8
up seq anno comments: In PULAM.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Sodium-dependent phosphate transport protein 2B
up seq anno feature ids: PRO_0000068613
up seq anno feature ids: VAR_030677
up seq anno feature ids: VAR_030678
up seq anno feature ids: VAR_034156
up seq anno feature ids: VSP_016755

9606:POMK
gene id: 9606:POMK
uniprot id: Q9H5K3
up 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 labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Modified 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: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In MDDGA12.
up seq anno comments: In MDDGA12; loss of kinase activity.
up seq anno comments: In a lung small cell carcinoma sample; somatic mutation.
up seq anno comments: Lumenal
up seq anno comments: N-acetylmethionine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Protein O-mannose kinase
up seq anno comments: Protein kinase
up seq anno feature ids: PRO_0000262996
up seq anno feature ids: VAR_041372
up seq anno feature ids: VAR_041373
up seq anno feature ids: VAR_041374
up seq anno feature ids: VAR_041375
up seq anno feature ids: VAR_041376
up seq anno feature ids: VAR_069625
up seq anno feature ids: VAR_069626
up seq anno feature ids: VAR_072560

9606:MAN2A2
gene id: 9606:MAN2A2
uniprot id: P49641
up 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: 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 Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Alpha-mannosidase 2x
up seq anno comments: Cytoplasmic
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In isoform 1.
up seq anno comments: In isoform 2.
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Nucleophile
up seq anno feature ids: PRO_0000206905
up seq anno feature ids: VAR_047912
up seq anno feature ids: VAR_047913
up seq anno feature ids: VSP_041732
up seq anno feature ids: VSP_041733
up seq anno feature ids: VSP_041734

9606:CDC42EP5
gene id: 9606:CDC42EP5
uniprot id: Q6NZY7
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 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: Sequence Conflict
up seq anno comments: CRIB
up seq anno comments: Cdc42 effector protein 5
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000212653

9606:RALGAPA2
gene id: 9606:RALGAPA2
uniprot id: Q2PPJ7
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 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: 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: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PKB
up seq anno comments: Phosphothreonine; by PKB
up seq anno comments: Polar residues
up seq anno comments: Ral GTPase-activating protein subunit alpha-2
up seq anno comments: Rap-GAP
up seq anno feature ids: PRO_0000286972
up seq anno feature ids: VAR_049157
up seq anno feature ids: VSP_025247
up seq anno feature ids: VSP_025248

9606:GGNBP2
gene id: 9606:GGNBP2
uniprot id: Q9H3C7
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 labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Gametogenetin-binding protein 2
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_0000239348
up seq anno feature ids: VSP_019175
up seq anno feature ids: VSP_019176
up seq anno feature ids: VSP_019177
up seq anno feature ids: VSP_019178

9606:FAM162B
gene id: 9606:FAM162B
uniprot id: Q5T6X4
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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: Protein FAM162B
up seq anno feature ids: PRO_0000254639
up seq anno feature ids: VAR_053782

9606:SAPCD2
gene id: 9606:SAPCD2
uniprot id: Q86UD0
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: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Pro residues
up seq anno comments: Suppressor APC domain-containing protein 2
up seq anno feature ids: PRO_0000286596

9606:TNP1
gene id: 9606:TNP1
uniprot id: P09430
uniprot id: Q4ZG82
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: Modified Residue
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Phosphoserine
up seq anno comments: Spermatid nuclear transition protein 1
up seq anno feature ids: PRO_0000191417

9606:NRP2
gene id: 9606:NRP2
uniprot id: O60462
uniprot id: Q7Z3T9
up 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: 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: 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: CUB
up seq anno comments: CUB 1
up seq anno comments: CUB 2
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: F5/8 type C
up seq anno comments: F5/8 type C 1
up seq anno comments: F5/8 type C 2
up seq anno comments: Helical
up seq anno comments: In isoform A0.
up seq anno comments: In isoform A17 and isoform B0.
up seq anno comments: In isoform B0 and isoform B5.
up seq anno comments: In isoform s9.
up seq anno comments: MAM
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Neuropilin
up seq anno comments: Neuropilin-2
up seq anno comments: Or 22
up seq anno comments: Polar residues
up seq anno comments: Rare variant; may act as a phenotype modifier in EIEE13 patients carrying SCN8A mutations.
up seq anno feature ids: PRO_0000021863
up seq anno feature ids: PRO_5004295229
up seq anno feature ids: VAR_047754
up seq anno feature ids: VAR_065167
up seq anno feature ids: VAR_067537
up seq anno feature ids: VAR_067538
up seq anno feature ids: VSP_004341
up seq anno feature ids: VSP_004342
up seq anno feature ids: VSP_041160
up seq anno feature ids: VSP_044908
up seq anno feature ids: VSP_044909

9606:KRT16
gene id: 9606:KRT16
uniprot id: P08779
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 labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Mass
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: IF rod
up seq anno comments: In FNEPPK1 and PC1.
up seq anno comments: In PC1.
up seq anno comments: In PC1; late onset.
up seq anno comments: In PC1; requires 2 nucleotide substitutions.
up seq anno comments: Keratin, type I cytoskeletal 16
up seq anno comments: Rare variant; found as somatic mutation in a patient with localized epidermolytic hyperkeratosis in the right palm and the right sole; unknown pathological significance.
up seq anno feature ids: PRO_0000063662
up seq anno feature ids: VAR_003846
up seq anno feature ids: VAR_009183
up seq anno feature ids: VAR_009184
up seq anno feature ids: VAR_012854
up seq anno feature ids: VAR_012855
up seq anno feature ids: VAR_012856
up seq anno feature ids: VAR_013837
up seq anno feature ids: VAR_017065
up seq anno feature ids: VAR_017066
up seq anno feature ids: VAR_017067
up seq anno feature ids: VAR_035440
up seq anno feature ids: VAR_072436
up seq anno feature ids: VAR_072437
up seq anno feature ids: VAR_072438
up seq anno feature ids: VAR_072439
up seq anno feature ids: VAR_072440

9606:TMEM87A
gene id: 9606:TMEM87A
uniprot id: Q8NBN3
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 labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
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: 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: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Transmembrane protein 87A
up seq anno feature ids: PRO_0000270751
up seq anno feature ids: VSP_022207
up seq anno feature ids: VSP_022208
up seq anno feature ids: VSP_022209

9606:ZCRB1
gene id: 9606:ZCRB1
uniprot id: A0A024R106
uniprot id: G3V1V1
uniprot id: Q8TBF4
up 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 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: 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: Basic and acidic residues
up seq anno comments: CCHC-type
up seq anno comments: Phosphoserine
up seq anno comments: RRM
up seq anno comments: Zinc finger CCHC-type and RNA-binding motif-containing protein 1
up seq anno feature ids: PRO_0000252373
up seq anno feature ids: VAR_027845

9606:NDUFS7
gene id: 9606:NDUFS7
uniprot id: O75251
uniprot id: Q7LD69
up 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: 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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: Found in a patient with Leigh syndrome; unknown pathological significance; decrease in enzyme activity.
up seq anno comments: Hydroxyarginine
up seq anno comments: In MC1DN3.
up seq anno comments: In isoform 2.
up seq anno comments: Mitochondrion
up seq anno comments: NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial
up seq anno comments: Oxidored_q6
up seq anno feature ids: PRO_0000020027
up seq anno feature ids: VAR_008848
up seq anno feature ids: VAR_014482
up seq anno feature ids: VAR_084360
up seq anno feature ids: VSP_057067

9606:CAPZA3
gene id: 9606:CAPZA3
uniprot id: Q96KX2
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno comments: F-actin-capping protein subunit alpha-3
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000208631

9606:GUSB
gene id: 9606:GUSB
uniprot id: P08236
up 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: Site
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:ANGPTL7
gene id: 9606:ANGPTL7
uniprot id: O43827
up 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 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 comments: Angiopoietin-related protein 7
up seq anno comments: Fibrinogen C-terminal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000009131
up seq anno feature ids: VAR_025075
up seq anno feature ids: VAR_025076
up seq anno feature ids: VAR_025077

9606:PRXL2B
gene id: 9606:PRXL2B
uniprot id: A0A0A0MRV4
uniprot id: A0A0A0MT35
uniprot id: A0A2P0CTB1
uniprot id: A0A2P0CU24
uniprot id: Q8TBF2
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: In isoform 2 and isoform 6.
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: Phosphotyrosine
up seq anno comments: Prostamide/prostaglandin F synthase
up seq anno feature ids: PRO_0000284637
up seq anno feature ids: VSP_024581
up seq anno feature ids: VSP_040901
up seq anno feature ids: VSP_040903
up seq anno feature ids: VSP_040904

9606:JAKMIP2
gene id: 9606:JAKMIP2
uniprot id: Q96AA8
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Sequence Variant
up seq anno labels: Splice Variant
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:SLC7A8
gene id: 9606:SLC7A8
uniprot id: Q53EM9
uniprot id: Q9UHI5
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: Secondary Structure
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: Non-terminal 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 labels: Turn
up seq anno comments: Basic and acidic residues
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: Large neutral amino acids transporter small subunit 2
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000054273
up seq anno feature ids: VSP_046945
up seq anno feature ids: VSP_046946
up seq anno feature ids: VSP_046947

9606:ATP6V1B1
gene id: 9606:ATP6V1B1
uniprot id: P15313
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: Site
up seq anno labels: Binding Site
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: Sequence Variant
up seq anno comments: In DRTA2.
up seq anno comments: In DRTA2; disruption of V-ATPase assembly resulting in loss of enzyme activity; impaired trafficking of V-ATPase to apical cell membrane; impaired renal proton secretion.
up seq anno comments: Loss of interactions with SLC9A3R1 and SCL4A7.
up seq anno comments: PDZ-binding
up seq anno comments: V-type proton ATPase subunit B, kidney isoform
up seq anno feature ids: PRO_0000144624
up seq anno feature ids: VAR_007866
up seq anno feature ids: VAR_007867
up seq anno feature ids: VAR_007868
up seq anno feature ids: VAR_007869
up seq anno feature ids: VAR_007870
up seq anno feature ids: VAR_007871
up seq anno feature ids: VAR_007872
up seq anno feature ids: VAR_021011
up seq anno feature ids: VAR_021012
up seq anno feature ids: VAR_021013
up seq anno feature ids: VAR_021014
up seq anno feature ids: VAR_021015
up seq anno feature ids: VAR_085740

9606:HSFX1
gene id: 9606:HSFX1
uniprot id: A0A140VK21
uniprot id: Q9UBD0
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: DNA Binding
up seq anno labels: Domain Extent
up seq anno comments: Basic and acidic residues
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)
up seq anno comments: HSF_DOMAIN
up seq anno comments: Heat shock transcription factor, X-linked
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000339188

9606:GSK3B
gene id: 9606:GSK3B
uniprot id: P49841
uniprot id: Q6FI27
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: Secondary Structure
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: 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: Abolished serine/threonine-protein kinase activity.
up seq anno comments: Abolishes activity toward AXIN1.
up seq anno comments: Glycogen synthase kinase-3 beta
up seq anno comments: In isoform 2.
up seq anno comments: Loss of phosphorylation; abolished inhibition of activity, leading to constitutively active.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PKB/AKT1, RPS6KA3 and SGK3
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: Prevents the phosphorylation of phosphate-primed glycogen synthase.
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000085980
up seq anno feature ids: VSP_004790

9606:SGTA
gene id: 9606:SGTA
uniprot id: O43765
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 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: Repeat
up seq anno comments: Basic and acidic residues
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Reduces tail-anchored proteins transfer.
up seq anno comments: Small glutamine-rich tetratricopeptide repeat-containing protein alpha
up seq anno comments: TPR 1
up seq anno comments: TPR 2
up seq anno comments: TPR 3
up seq anno feature ids: PRO_0000106365

9606:FUT5
gene id: 9606:FUT5
uniprot id: K7ENC0
uniprot id: Q11128
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 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: Glyco_tran_10_N
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:OR51D1
gene id: 9606:OR51D1
uniprot id: A0A126GVM2
uniprot id: Q8NGF3
up 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 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_RECEP_F1_2
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 51D1
up seq anno feature ids: PRO_0000150749
up seq anno feature ids: VAR_053323

9606:MYBPH
gene id: 9606:MYBPH
uniprot id: Q13203
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 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 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:LGALS8
gene id: 9606:LGALS8
uniprot id: O00214
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: 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: 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: 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:SRSF2
gene id: 9606:SRSF2
uniprot id: A0A024R8U5
uniprot id: Q01130
uniprot id: Q53FN0
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: Secondary Structure
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: 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: In isoform 2.
up seq anno comments: N-acetylserine
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: RRM
up seq anno comments: Removed
up seq anno comments: Serine/arginine-rich splicing factor 2
up seq anno feature ids: PRO_0000081918
up seq anno feature ids: VSP_056153

9606:DCDC2
gene id: 9606:DCDC2
uniprot id: Q9UHG0
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: Secondary Structure
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: 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: Doublecortin 1
up seq anno comments: Doublecortin 2
up seq anno comments: Doublecortin domain-containing protein 2
up seq anno comments: In DFNB66; results in ciliary abnormalities including increased ciliary length.
up seq anno comments: In NSC.
up seq anno comments: In NSC; loss of localization to the cilium axoneme.
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000079804
up seq anno feature ids: VAR_022890
up seq anno feature ids: VAR_050946
up seq anno feature ids: VAR_050947
up seq anno feature ids: VAR_074667
up seq anno feature ids: VAR_077245
up seq anno feature ids: VAR_078767
up seq anno feature ids: VAR_078768
up seq anno feature ids: VSP_014670
up seq anno feature ids: VSP_014671

9606:PLK1
gene id: 9606:PLK1
uniprot id: P53350
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: Secondary Structure
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: 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes activity. Abolishes checkpoint recovery.
up seq anno comments: Abolishes interaction with CDC25C and reduces centrosomal localization.
up seq anno comments: Abolishes kinase activity.
up seq anno comments: Basic and acidic residues
up seq anno comments: D-box that targets the protein for proteasomal degradation in anaphase
up seq anno comments: Does not interfere with FRY-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 ubiquitin)
up seq anno comments: In a lung squamous cell carcinoma sample; somatic mutation.
up seq anno comments: In analog-sensitive mutant; enlarged catalytic pocket to accommodate purine analogs; when associated with G-130.
up seq anno comments: In analog-sensitive mutant; enlarged catalytic pocket to accommodate purine analogs; when associated with V-67.
up seq anno comments: In pincer mutant; loss of centrosomal location and decreased interaction with phosphorylated CDC25C and BUB1; when associated with A-538.
up seq anno comments: In pincer mutant; loss of centrosomal location and decreased interaction with phosphorylated CDC25C and BUB1; when associated with M-540.
up seq anno comments: Increases activity and restores recovery after DNA damage checkpoint.
up seq anno comments: Increases activity. Results in a block in G1/S.
up seq anno comments: Interferes with ubiquitination and subsequent proteasomal degradation in anaphase; when associated with A-337.
up seq anno comments: Interferes with ubiquitination and subsequent proteasomal degradation in anaphase; when associated with A-340.
up seq anno comments: Loss of centrosomal localization and of S-phase progression; when associated with A- 414 and A-427.
up seq anno comments: Loss of kinase activity. No effect on RIOK2-binding.
up seq anno comments: Loss of kinase activity. No effect on S-phase progression.
up seq anno comments: N-acetylserine
up seq anno comments: No change in activity. Increases activity and restores recovery after DNA damage checkpoint; when associated with D-210.
up seq anno comments: No effect on centrosomal localization, nor on S-phase progression; when asscociated with A-427. Loss of centrosomal localization and of S-phase progression; when associated with A- 415 and A-427.
up seq anno comments: No effect on centrosomal localization, nor on S-phase progression; when associated with A-414. Loss of centrosomal localization and of S-phase progression; when associated with A- 414 and A-415.
up seq anno comments: POLO box 1
up seq anno comments: POLO box 2
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by autocatalysis
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by AURKA
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Reduced catalytic activity, but no effect on affinity for ATP.
up seq anno comments: Removed
up seq anno comments: Serine/threonine-protein kinase PLK1
up seq anno comments: Severe mitotic defects leading to prometaphase delay. Increased localization at kinetochores leading to increased levels of phosphorylated BUBR1.
up seq anno feature ids: PRO_0000086556
up seq anno feature ids: VAR_041018
up seq anno feature ids: VAR_041019
up seq anno feature ids: VAR_041020
up seq anno feature ids: VAR_041021
up seq anno feature ids: VAR_041022
up seq anno feature ids: VAR_051659
up seq anno feature ids: VAR_051660
up seq anno feature ids: VAR_051661

9606:H1-7
gene id: 9606:H1-7
uniprot id: A0A140VK96
uniprot id: Q75WM6
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
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: Phosphoserine
up seq anno comments: Testis-specific H1 histone
up seq anno feature ids: PRO_0000343414
up seq anno feature ids: VAR_044371
up seq anno feature ids: VAR_044372
up seq anno feature ids: VAR_044373
up seq anno feature ids: VAR_044374
up seq anno feature ids: VAR_044375
up seq anno feature ids: VAR_047359

9606:STARD5
gene id: 9606:STARD5
uniprot id: Q9NSY2
up 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 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:ZNF44
gene id: 9606:ZNF44
uniprot id: F8W7T7
uniprot id: P15621
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 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 1; atypical
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 and isoform 3.
up seq anno comments: In isoform 2.
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 44
up seq anno feature ids: PRO_0000047377
up seq anno feature ids: VAR_047425
up seq anno feature ids: VAR_047426
up seq anno feature ids: VSP_035757
up seq anno feature ids: VSP_035758
up seq anno feature ids: VSP_035759

9606:C6orf141
gene id: 9606:C6orf141
uniprot id: A0A024RD72
uniprot id: Q5SZD1
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Uncharacterized protein C6orf141
up seq anno feature ids: PRO_0000089537
up seq anno feature ids: VAR_022939
up seq anno feature ids: VAR_030643

9606:CSF2RA
gene id: 9606:CSF2RA
uniprot id: P15509
up 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 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 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
up seq anno comments: Granulocyte-macrophage colony-stimulating factor receptor subunit alpha
up seq anno comments: Helical
up seq anno comments: In SMDP4.
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: N-linked (GlcNAc...) asparagine
up seq anno comments: WSXWS motif
up seq anno feature ids: PRO_0000010872
up seq anno feature ids: VAR_058507
up seq anno feature ids: VSP_001663
up seq anno feature ids: VSP_001664
up seq anno feature ids: VSP_001665
up seq anno feature ids: VSP_001666
up seq anno feature ids: VSP_001667
up seq anno feature ids: VSP_001668
up seq anno feature ids: VSP_001669
up seq anno feature ids: VSP_001670
up seq anno feature ids: VSP_043715
up seq anno feature ids: VSP_044272

9606:PMPCA
gene id: 9606:PMPCA
uniprot id: Q10713
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 labels: Chain
up seq anno labels: Mass
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: In SCAR2.
up seq anno comments: In SCAR2; impairs cleavage of FXN; does not impair cleavage of DLD, NFS1 and PRDX3.
up seq anno comments: In isoform 2.
up seq anno comments: Mitochondrial-processing peptidase subunit alpha
up seq anno comments: Mitochondrion
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-succinyllysine
up seq anno feature ids: PRO_0000026767
up seq anno feature ids: VAR_076237
up seq anno feature ids: VAR_076238
up seq anno feature ids: VAR_076239
up seq anno feature ids: VAR_076240
up seq anno feature ids: VSP_054916
up seq anno feature ids: VSP_054917

9606:LUZP2
gene id: 9606:LUZP2
uniprot id: Q86TE4
up 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 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: 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: Leucine zipper protein 2
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000315274
up seq anno feature ids: VAR_038165
up seq anno feature ids: VSP_030520
up seq anno feature ids: VSP_030521
up seq anno feature ids: VSP_030522
up seq anno feature ids: VSP_030523
up seq anno feature ids: VSP_044970

9606:G3BP2
gene id: 9606:G3BP2
uniprot id: A0A024RDB2
uniprot id: A0A024RDE5
uniprot id: Q9UN86
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: Secondary Structure
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: 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: Basic and acidic residues
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform B.
up seq anno comments: N6-succinyllysine
up seq anno comments: NTF2
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: RRM
up seq anno comments: Ras GTPase-activating protein-binding protein 2
up seq anno comments: Removed
up seq anno feature ids: PRO_0000194800
up seq anno feature ids: VAR_036128
up seq anno feature ids: VSP_003605

9606:UNC5CL
gene id: 9606:UNC5CL
uniprot id: H8YHX0
uniprot id: Q8IV45
up 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 labels: Active Site
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: Death
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Helical; Signal-anchor for type III membrane protein
up seq anno comments: UNC5C-like protein
up seq anno comments: ZU5
up seq anno feature ids: PRO_0000309567
up seq anno feature ids: VAR_036979

9606:SPAST
gene id: 9606:SPAST
uniprot id: E5KRP5
uniprot id: E5KRP6
uniprot id: Q9UBP0
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: Secondary Structure
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: 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: 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
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: 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
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Spastin
up seq anno feature ids: PRO_0000084763
up seq anno feature ids: VAR_010194
up seq anno feature ids: VAR_010195
up seq anno feature ids: VAR_010196
up seq anno feature ids: VAR_010197
up seq anno feature ids: VAR_010198
up seq anno feature ids: VAR_010199
up seq anno feature ids: VAR_019439
up seq anno feature ids: VAR_019440
up seq anno feature ids: VAR_019441
up seq anno feature ids: VAR_019442
up seq anno feature ids: VAR_019443
up seq anno feature ids: VAR_019444

9606:ULK4
gene id: 9606:ULK4
uniprot id: Q96C45
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Strand
up seq anno labels: Turn
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:TRIP4
gene id: 9606:TRIP4
uniprot id: Q15650
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 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: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: ASCH
up seq anno comments: Activating signal cointegrator 1
up seq anno comments: C4-type
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in UFM1)
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000065631

9606:RBBP8
gene id: 9606:RBBP8
uniprot id: A0A024RC34
uniprot id: Q99708
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: Secondary Structure
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: 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 BRCA1 interaction and ubiquitination. No activation of CHEK1 after DNA damage.
up seq anno comments: Abolishes damage recruitment capability.
up seq anno comments: Abrogates dissociation of BRCA1.
up seq anno comments: Basic and acidic residues
up seq anno comments: CtIP_N
up seq anno comments: DNA endonuclease RBBP8
up seq anno comments: Decreased CUL3/KLHL15-mediated proteasomal degradation.
up seq anno comments: Decreased PIN1-binding. Impaired PIN1-binding, partially decreased CUL3/KLHL15-mediated proteasomal degradation, no effect on BRCA1-, MRE11-, nor on KLHL15-binding; when associated with A-276.
up seq anno comments: Decreased interaction with KLHL15, decreased polyubiquitination and CUL3/KLHL15-mediated proteasomal degradation. No effect on DNA-end resection activity.
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 FZR1-binding and APC/C-mediated polyubiquitination. Increased stability. No effect on MRE11-binding, nor on CUL3/KLHL15-mediated proteasomal degradation. No effect on DNA-en resection activity.
up seq anno comments: Impairs DNA resection.
up seq anno comments: In K12R; defects in ability to promoting DNA resection and homologous recombination; when associated with R-62; R-115; R-132; R-133; R-404; R-572; R-578; R-640; R-759; R-760 and R-782. In K5R; defects in ability to promoting DNA resection and homologous recombination; when associated with R-62; R-115; R-132 and R-133.
up seq anno comments: In K12R; defects in ability to promoting DNA resection and homologous recombination; when associated with R-62; R-78; R-115; R-132; R-133; R-404; R-572; R-578; R-640; R-759 and R-760.
up seq anno comments: In K12R; defects in ability to promoting DNA resection and homologous recombination; when associated with R-62; R-78; R-115; R-132; R-133; R-404; R-572; R-578; R-640; R-759 and R-782.
up seq anno comments: In K12R; defects in ability to promoting DNA resection and homologous recombination; when associated with R-62; R-78; R-115; R-132; R-133; R-404; R-572; R-578; R-640; R-760 and R-782.
up seq anno comments: In K12R; defects in ability to promoting DNA resection and homologous recombination; when associated with R-62; R-78; R-115; R-132; R-133; R-404; R-572; R-578; R-759; R-760 and R-782.
up seq anno comments: In K12R; defects in ability to promoting DNA resection and homologous recombination; when associated with R-62; R-78; R-115; R-132; R-133; R-404; R-572; R-640; R-759; R-760 and R-782.
up seq anno comments: In K12R; defects in ability to promoting DNA resection and homologous recombination; when associated with R-62; R-78; R-115; R-132; R-133; R-404; R-578; R-640; R-759; R-760 and R-782.
up seq anno comments: In K12R; defects in ability to promoting DNA resection and homologous recombination; when associated with R-62; R-78; R-115; R-132; R-133; R-572; R-578; R-640; R-759; R-760 and R-782.
up seq anno comments: In K12R; defects in ability to promoting DNA resection and homologous recombination; when associated with R-62; R-78; R-115; R-133; R-404; R-572; R-578; R-640; R-759; R-760 and R-782. In K5R; defects in ability to promoting DNA resection and homologous recombination; when associated with R-62; R-78; R-115 and R-132.
up seq anno comments: In K12R; defects in ability to promoting DNA resection and homologous recombination; when associated with R-62; R-78; R-115; R-133; R-404; R-572; R-578; R-640; R-759; R-760 and R-782. In K5R; defects in ability to promoting DNA resection and homologous recombination; when associated with R-62; R-78; R-115 and R-133.
up seq anno comments: In K12R; defects in ability to promoting DNA resection and homologous recombination; when associated with R-62; R-78; R-132; R-133; R-404; R-572; R-578; R-640; R-759; R-760 and R-782. In K5R; defects in ability to promoting DNA resection and homologous recombination; when associated with R-62; R-78; R-132 and R-133.
up seq anno comments: In K12R; defects in ability to promoting DNA resection and homologous recombination; when associated with R-78; R-115; R-132; R-133; R-404; R-572; R-578; R-640; R-759; R-760 and R-782. In K5R; defects in ability to promoting DNA resection and homologous recombination; when associated with R-78; R-115; R-132 and R-133.
up seq anno comments: In SCKL2.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: KLHL15-binding
up seq anno comments: Mimics constitutive phosphorylation.
up seq anno comments: No effect on CUL3/KLHL15-mediated proteasomal degradation.
up seq anno comments: No effect on FZR1-binding.
up seq anno comments: No effect on KLHL15-binding, nor on CUL3/KLHL15-mediated proteasomal degradation.
up seq anno comments: No effect on PIN1-binding. Impaired PIN1-binding, partially decreased CUL3/KLHL15-mediated proteasomal degradation, no effect on BRCA1-, MRE11-, nor on KLHL15-binding; when associated with A-315.
up seq anno comments: No effect on RPA focus formation on DNA damage.
up seq anno comments: PXDLS motif
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by ATM
up seq anno comments: Phosphothreonine; by CDK1
up seq anno comments: Phosphothreonine; by CDK2
up seq anno comments: Polar residues
up seq anno comments: SAE2
up seq anno feature ids: PRO_0000097179
up seq anno feature ids: VAR_028308
up seq anno feature ids: VAR_051308
up seq anno feature ids: VAR_075824
up seq anno feature ids: VSP_043220
up seq anno feature ids: VSP_045247
up seq anno feature ids: VSP_045248

9606:NAB2
gene id: 9606:NAB2
uniprot id: Q15742
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 labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
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); alternate
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: NGFI-A-binding protein 2
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000077042
up seq anno feature ids: VSP_003385
up seq anno feature ids: VSP_003386
up seq anno feature ids: VSP_003387

9606:NUP35
gene id: 9606:NUP35
uniprot id: Q8NFH5
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: Secondary Structure
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: In isoform 3.
up seq anno comments: Nucleoporin NUP35
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: RRM Nup35-type
up seq anno feature ids: PRO_0000234294
up seq anno feature ids: VSP_056210
up seq anno feature ids: VSP_056211

9606:TGFBR3L
gene id: 9606:TGFBR3L
uniprot id: H3BV60
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 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: 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: Pro residues
up seq anno comments: Transforming growth factor-beta receptor type 3-like protein
up seq anno comments: ZP; truncated
up seq anno feature ids: PRO_0000419495

9606:ARL17B
gene id: 9606:ARL17B
uniprot id: A8K0M5
uniprot id: Q8IVW1
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: 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 labels: Splice Variant
up seq anno comments: ADP-ribosylation factor-like protein 17
up seq anno comments: ARL17
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 4.
up seq anno comments: N-myristoyl glycine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000207482
up seq anno feature ids: VAR_017170
up seq anno feature ids: VSP_008753
up seq anno feature ids: VSP_008756

9606:HCAR2
gene id: 9606:HCAR2
uniprot id: A0A4Y1JWQ0
uniprot id: Q8TDS4
up 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 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: 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_RECEP_F1_2
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:ZER1
gene id: 9606:ZER1
uniprot id: Q7Z7L7
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: 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 labels: Mutagenesis Site
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: 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: Abolishes interaction with ELOC.
up seq anno comments: LRR 1
up seq anno comments: LRR 2
up seq anno comments: LRR 3
up seq anno comments: N-acetylalanine
up seq anno comments: Protein zer-1 homolog
up seq anno comments: Removed
up seq anno feature ids: PRO_0000066598
up seq anno feature ids: VAR_060159

9606:C5orf47
gene id: 9606:C5orf47
uniprot id: Q569G3
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 comments: Polar residues
up seq anno comments: Uncharacterized protein C5orf47
up seq anno feature ids: PRO_0000321821

9606:OTOF
gene id: 9606:OTOF
uniprot id: Q9HC10
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: 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: 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: 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: Extracellular
up seq anno comments: Helical
up seq anno comments: In AUNB1 and DFNB9.
up seq anno comments: In AUNB1.
up seq anno comments: In DFNB9 and AUNB1; temperature sensitive AUNB1 phenotype with severe hearing loss during febrile illness.
up seq anno comments: In DFNB9.
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 and isoform 5.
up seq anno comments: In isoform 3.
up seq anno comments: Otoferlin
up seq anno feature ids: PRO_0000057881
up seq anno feature ids: VAR_028028
up seq anno feature ids: VAR_028029
up seq anno feature ids: VAR_028030
up seq anno feature ids: VAR_032226
up seq anno feature ids: VAR_032227
up seq anno feature ids: VAR_032228
up seq anno feature ids: VAR_032229
up seq anno feature ids: VAR_032230
up seq anno feature ids: VAR_032231
up seq anno feature ids: VAR_032232
up seq anno feature ids: VAR_032233
up seq anno feature ids: VAR_032234
up seq anno feature ids: VAR_032235
up seq anno feature ids: VAR_032236
up seq anno feature ids: VAR_032237
up seq anno feature ids: VAR_032238
up seq anno feature ids: VAR_032239
up seq anno feature ids: VAR_032240
up seq anno feature ids: VAR_032241
up seq anno feature ids: VAR_032242
up seq anno feature ids: VAR_035895
up seq anno feature ids: VAR_035896
up seq anno feature ids: VAR_046003
up seq anno feature ids: VAR_046004
up seq anno feature ids: VAR_046005
up seq anno feature ids: VAR_046006
up seq anno feature ids: VAR_046007
up seq anno feature ids: VAR_046008
up seq anno feature ids: VAR_049057
up seq anno feature ids: VSP_001507
up seq anno feature ids: VSP_001508
up seq anno feature ids: VSP_001509
up seq anno feature ids: VSP_001510
up seq anno feature ids: VSP_001511

9606:IL17REL
gene id: 9606:IL17REL
uniprot id: Q6ZVW7
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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:DBH
gene id: 9606:DBH
uniprot id: P09172
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: Secondary Structure
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: 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: 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: DOMON
up seq anno comments: Dopamine beta-hydroxylase
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In ORTHYP1.
up seq anno comments: In allele DBH-B.
up seq anno comments: Interchain (with C-528)
up seq anno comments: Interchain (with C-530)
up seq anno comments: Intragranular
up seq anno comments: N-linked (GlcNAc...) (complex) asparagine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: Soluble dopamine beta-hydroxylase
up seq anno feature ids: PRO_0000006356
up seq anno feature ids: PRO_0000308209
up seq anno feature ids: VAR_002196
up seq anno feature ids: VAR_013947
up seq anno feature ids: VAR_013948
up seq anno feature ids: VAR_014706
up seq anno feature ids: VAR_014707
up seq anno feature ids: VAR_014708
up seq anno feature ids: VAR_014709
up seq anno feature ids: VAR_014710
up seq anno feature ids: VAR_022758
up seq anno feature ids: VAR_022759
up seq anno feature ids: VAR_022760
up seq anno feature ids: VAR_048838

9606:MRPS36
gene id: 9606:MRPS36
uniprot id: P82909
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: Modified Residue
up seq anno comments: Alpha-ketoglutarate dehydrogenase component 4
up seq anno comments: N-acetylmethionine
up seq anno comments: N6-succinyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000087733

9606:PRKAR1B
gene id: 9606:PRKAR1B
uniprot id: P31321
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: Secondary Structure
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: Helix
up seq anno labels: Initiator Methionine
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: Turn
up seq anno comments: 3'-nitrotyrosine
up seq anno comments: In MASNS; decreased basal PKA enzymatic activity in lysates from transfected cells.
up seq anno comments: In MASNS; unknown pathological significance; requires 2 nucleotide substitutions; decreased basal PKA enzymatic activity in lysates from transfected cells.
up seq anno comments: Interchain (with C-18)
up seq anno comments: Interchain (with C-39)
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: Pseudophosphorylation motif
up seq anno comments: Removed
up seq anno comments: cAMP-dependent protein kinase type I-beta regulatory subunit
up seq anno feature ids: PRO_0000205381
up seq anno feature ids: VAR_086687
up seq anno feature ids: VAR_086688
up seq anno feature ids: VAR_086689

9606:PTP4A2
gene id: 9606:PTP4A2
uniprot id: Q12974
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: Secondary Structure
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: 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: 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: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Locates in the nucleus and cytosol. No interaction with RABGGTB.
up seq anno comments: No effect on interaction with RABGGTB.
up seq anno comments: Phosphocysteine intermediate
up seq anno comments: Protein tyrosine phosphatase type IVA 2
up seq anno comments: Proton donor
up seq anno comments: Removed in mature form
up seq anno comments: S-farnesyl cysteine
up seq anno comments: Tyrosine-protein phosphatase
up seq anno feature ids: PRO_0000094785
up seq anno feature ids: PRO_0000396731
up seq anno feature ids: VSP_014404
up seq anno feature ids: VSP_014405
up seq anno feature ids: VSP_044813
up seq anno feature ids: VSP_055056

9606:SLC35B1
gene id: 9606:SLC35B1
uniprot id: D3DTX1
uniprot id: P78383
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 labels: Chain
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: Transmembrane
up seq anno comments: Di-lysine motif
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Loss of ATP:ADP antiporter activity.
up seq anno comments: Phosphoserine
up seq anno comments: Solute carrier family 35 member B1
up seq anno feature ids: PRO_0000213366
up seq anno feature ids: VAR_023778
up seq anno feature ids: VSP_054234

9606:PABIR2
gene id: 9606:PABIR2
uniprot id: B4DN12
uniprot id: Q7Z309
up 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 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: Splice Variant
up seq anno comments: Basic and acidic residues
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 5.
up seq anno comments: In isoform 5.
up seq anno comments: N-acetylalanine
up seq anno comments: Omega-N-methylarginine
up seq anno comments: PABIR family member 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_0000254545
up seq anno feature ids: VSP_021215
up seq anno feature ids: VSP_021216
up seq anno feature ids: VSP_021217
up seq anno feature ids: VSP_021218

9606:GTPBP8
gene id: 9606:GTPBP8
uniprot id: Q8N3Z3
uniprot id: Q9P025
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: 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 labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: EngB-type G
up seq anno comments: GTP-binding protein 8
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno feature ids: PRO_0000338612
up seq anno feature ids: VAR_048934
up seq anno feature ids: VSP_034055
up seq anno feature ids: VSP_034056
up seq anno feature ids: VSP_034057

9606:ITIH2
gene id: 9606:ITIH2
uniprot id: P19823
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 labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Mass
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 comments: 4-carboxyglutamate
up seq anno comments: Aspartate 1-(chondroitin 4-sulfate)-ester
up seq anno comments: Inter-alpha-trypsin inhibitor heavy chain H2
up seq anno comments: N-linked (GlcNAc...) (complex) asparagine
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: O-linked (GalNAc...) threonine; partial
up seq anno comments: Phosphoserine; by FAM20C
up seq anno comments: VIT
up seq anno comments: VWFA
up seq anno feature ids: CAR_000140
up seq anno feature ids: CAR_000214
up seq anno feature ids: CAR_000215
up seq anno feature ids: CAR_000216
up seq anno feature ids: CAR_000217
up seq anno feature ids: PRO_0000016517
up seq anno feature ids: PRO_0000016518
up seq anno feature ids: PRO_0000016519
up seq anno feature ids: VAR_055248
up seq anno feature ids: VAR_055249
up seq anno feature ids: VAR_055250

9606:IL36A
gene id: 9606:IL36A
uniprot id: Q9UHA7
up 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 labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
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: 3'-nitrotyrosine
up seq anno comments: Interleukin-36 alpha
up seq anno feature ids: PRO_0000153644
up seq anno feature ids: PRO_0000430545
up seq anno feature ids: VAR_024504
up seq anno feature ids: VAR_025055
up seq anno feature ids: VAR_025056

9606:GXYLT2
gene id: 9606:GXYLT2
uniprot id: A0PJZ3
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: Glycosylation Site
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Glucoside xylosyltransferase 2
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: Pro residues
up seq anno feature ids: PRO_0000288539

9606:AMT
gene id: 9606:AMT
uniprot id: A0A024R2U7
uniprot id: P48728
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: 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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: Aminomethyltransferase, mitochondrial
up seq anno comments: GCV_T
up seq anno comments: GCV_T_C
up seq anno comments: In NKH.
up seq anno comments: In NKH; decreased aminomethyltransferase activity.
up seq anno comments: In NKH; loss of aminomethyltransferase 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 aminomethyltransferase activity.
up seq anno comments: Mitochondrion
up seq anno feature ids: PRO_0000010755
up seq anno feature ids: VAR_007951
up seq anno feature ids: VAR_007952
up seq anno feature ids: VAR_007953
up seq anno feature ids: VAR_007954
up seq anno feature ids: VAR_007955
up seq anno feature ids: VAR_016847
up seq anno feature ids: VAR_016848
up seq anno feature ids: VAR_074107
up seq anno feature ids: VAR_078794
up seq anno feature ids: VAR_078795
up seq anno feature ids: VAR_078796
up seq anno feature ids: VSP_042557
up seq anno feature ids: VSP_043288
up seq anno feature ids: VSP_045418

9606:SYTL5
gene id: 9606:SYTL5
uniprot id: Q8TDW5
up 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 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: 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: C2 1
up seq anno comments: C2 2
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: RabBD
up seq anno comments: Synaptotagmin-like protein 5
up seq anno feature ids: PRO_0000190219
up seq anno feature ids: VAR_024601
up seq anno feature ids: VAR_061753
up seq anno feature ids: VSP_042659

9606:ETS1
gene id: 9606:ETS1
uniprot id: A8K725
uniprot id: B4DW78
uniprot id: P14921
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: Secondary Structure
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: 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: ETS
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 SUMO2)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform Ets-1 p27.
up seq anno comments: In isoform c-ETS-1B.
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: PNT
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by MAPK
up seq anno comments: Phosphotyrosine
up seq anno comments: Protein C-ets-1
up seq anno feature ids: PRO_0000204069
up seq anno feature ids: VSP_001464
up seq anno feature ids: VSP_043152
up seq anno feature ids: VSP_046056
up seq anno feature ids: VSP_055485
up seq anno feature ids: VSP_055486

9606:C11orf1
gene id: 9606:C11orf1
uniprot id: Q9H5F2
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno comments: UPF0686 protein C11orf1
up seq anno feature ids: PRO_0000089829
up seq anno feature ids: VAR_050861
up seq anno feature ids: VAR_050862
up seq anno feature ids: VAR_054163

9606:NOMO3
gene id: 9606:NOMO3
uniprot id: J3KN36
uniprot id: P69849
uniprot id: Q1LZN2
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 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: 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: N-linked (GlcNAc...) asparagine
up seq anno comments: Nodal modulator 3
up seq anno comments: SpaA
up seq anno feature ids: PRO_0000021821
up seq anno feature ids: PRO_5014098587

9606:LNPEP
gene id: 9606:LNPEP
uniprot id: Q9UIQ6
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: Secondary Structure
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: 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: 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: Dileucine internalization motif
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: In isoform 3.
up seq anno comments: Leucyl-cystinyl aminopeptidase
up seq anno comments: Leucyl-cystinyl aminopeptidase, pregnancy serum form
up seq anno comments: N-acetylmethionine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000095114
up seq anno feature ids: PRO_0000292264
up seq anno feature ids: VAR_012812
up seq anno feature ids: VAR_031616
up seq anno feature ids: VAR_031617
up seq anno feature ids: VAR_051567
up seq anno feature ids: VAR_051568
up seq anno feature ids: VSP_005448
up seq anno feature ids: VSP_005449

9606:CDC42SE1
gene id: 9606:CDC42SE1
uniprot id: Q9NRR8
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 labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Lipid Binding
up seq anno labels: Mutagenesis Site
up seq anno labels: Splice Variant
up seq anno comments: Abolishes interaction with CDC42 and induces a decrease in blocking CDC42-induced JNK activation; when associated with A-62.
up seq anno comments: Abolishes interaction with CDC42 and induces a decrease in blocking CDC42-induced JNK activation; when associated with A-66.
up seq anno comments: Abolishes interaction with CDC42, induces a decrease in blocking CDC42-induced JNK activation but does not affect targeting to the activated TCR; when associated with A-33 and A-38.
up seq anno comments: Abolishes interaction with CDC42, induces a decrease in blocking CDC42-induced JNK activation but does not affect targeting to the activated TCR; when associated with A-33 and A-41.
up seq anno comments: Abolishes interaction with CDC42, induces a decrease in blocking CDC42-induced JNK activation but does not affect targeting to the activated TCR; when associated with A-38 and A-41.
up seq anno comments: CDC42 small effector protein 1
up seq anno comments: CRIB
up seq anno comments: In isoform 2.
up seq anno comments: Prevents targeting to the activated TCR.
up seq anno comments: S-palmitoyl cysteine
up seq anno feature ids: PRO_0000334629
up seq anno feature ids: VSP_033717

9606:PRICKLE1
gene id: 9606:PRICKLE1
uniprot id: A0A024R0W7
uniprot id: B3KVG3
uniprot id: B3KVG6
uniprot id: Q96MT3
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 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: 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: 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:VPS33B
gene id: 9606:VPS33B
uniprot id: A0A0S2Z577
uniprot id: Q9H267
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 labels: Chain
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: Splice Variant
up seq anno comments: Disrupts interaction with VIPAS39.
up seq anno comments: Disrupts interaction with VIPAS39; no effect on interaction with STX7; impairs localization to VIPAS39-containing endosomal compartment.
up seq anno comments: In ARCS1; effect on interaction with VIPAS39 is reported conflictingly but disrupts colocalization with VIPAS39 at cytoplasmic organelle; impairs localization to VIPAS39-containing endosomal compartment; and induces fragmentation of the VIPAS39-containing endosomal compartment; no effect on interaction with STX7 and association with the HOPS complex.
up seq anno comments: In ARCS1; no effect on interaction with VIPAS39; impairs localization to VIPAS39-containing endosomal compartment.
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylalanine
up seq anno comments: No effect on interaction with VIPAS39 and STX7; impairs localization to VIPAS39-containing endosomal compartment.
up seq anno comments: No effect on interaction with VIPAS39; no effect on interaction with STX7 and association with the HOPS complex; impairs localization to VIPAS39-containing endosomal compartment.
up seq anno comments: Reduces phosphorylation activity, but does not impair phagolysosomal fusion in M.tuberculosis-infected macrophages; when associated with E-133; E-382 and E-511.
up seq anno comments: Reduces phosphorylation activity, but does not impair phagolysosomal fusion in M.tuberculosis-infected macrophages; when associated with E-133; E-382 and E-517.
up seq anno comments: Reduces phosphorylation activity, but does not impair phagolysosomal fusion in M.tuberculosis-infected macrophages; when associated with E-133; E-511 and E-517.
up seq anno comments: Reduces phosphorylation activity, but does not impair phagolysosomal fusion in M.tuberculosis-infected macrophages; when associated with E-382; E-511 and E-517.
up seq anno comments: Removed
up seq anno comments: Vacuolar protein sorting-associated protein 33B
up seq anno feature ids: PRO_0000206305
up seq anno feature ids: VAR_013828
up seq anno feature ids: VAR_018983
up seq anno feature ids: VAR_057330
up seq anno feature ids: VAR_057901
up seq anno feature ids: VSP_056567

9606:MED16
gene id: 9606:MED16
uniprot id: Q9Y2X0
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Basic and acidic residues
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: Mediator of RNA polymerase II transcription subunit 16
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_0000051292
up seq anno feature ids: VAR_053958
up seq anno feature ids: VAR_053959
up seq anno feature ids: VSP_028749
up seq anno feature ids: VSP_028750
up seq anno feature ids: VSP_051721
up seq anno feature ids: VSP_051722
up seq anno feature ids: VSP_051723
up seq anno feature ids: VSP_051724

9606:ZNF518A
gene id: 9606:ZNF518A
uniprot id: Q6AHZ1
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
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: 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: 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:GLT1D1
gene id: 9606:GLT1D1
uniprot id: Q96MS3
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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:SLC35G6
gene id: 9606:SLC35G6
uniprot id: P0C7Q6
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
up seq anno comments: EamA 1
up seq anno comments: EamA 2
up seq anno comments: Helical
up seq anno comments: Solute carrier family 35 member G6
up seq anno feature ids: PRO_0000342676
up seq anno feature ids: VAR_044335
up seq anno feature ids: VAR_044336
up seq anno feature ids: VAR_059581

9606:PACSIN2
gene id: 9606:PACSIN2
uniprot id: Q6FIA3
uniprot id: Q9UNF0
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: 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: 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: Decreased protein interaction with HCV NS5A.
up seq anno comments: F-BAR
up seq anno comments: In isoform 2.
up seq anno comments: Increased protein interaction with HCV NS5A.
up seq anno comments: N6-acetyllysine
up seq anno comments: NPF1
up seq anno comments: NPF2
up seq anno comments: NPF3
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PKC
up seq anno comments: Polar residues
up seq anno comments: Protein kinase C and casein kinase substrate in neurons protein 2
up seq anno comments: SH3
up seq anno feature ids: PRO_0000161795
up seq anno feature ids: VAR_013711
up seq anno feature ids: VAR_013712
up seq anno feature ids: VAR_053555
up seq anno feature ids: VSP_004517

9606:ADCY7
gene id: 9606:ADCY7
uniprot id: B3KSJ0
uniprot id: F5H4D1
uniprot id: P51828
uniprot id: Q86YI0
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: 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: Mutagenesis Site
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Adenylate cyclase type 7
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Does not affect cAMP biosynthetic process in response to C5 alpha chain stimulation. Reduces by 40?60% cAMP biosynthetic process in response to sphingosine 1-phosphate stimulation.
up seq anno comments: Does not affect cAMP biosynthetic process in response to sphingosine 1-phosphate stimulation. Reduces by 40% cAMP biosynthetic process in response to C5 alpha chain stimulation.
up seq anno comments: Guanylate cyclase
up seq anno comments: Guanylate cyclase 1
up seq anno comments: Guanylate cyclase 2
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Reduces cAMP biosynthetic process in response to C5 alpha chain stimulation and more severely in response to sphingosine 1-phosphate stimulation.
up seq anno feature ids: PRO_0000195703

9606:RNF135
gene id: 9606:RNF135
uniprot id: B3KV69
uniprot id: Q8IUD6
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 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: B30.2/SPRY
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:ZNF765
gene id: 9606:ZNF765
uniprot id: Q7L2R6
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 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: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type 10
up seq anno comments: C2H2-type 11; degenerate
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; atypical
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 765
up seq anno feature ids: PRO_0000344217
up seq anno feature ids: VAR_045598
up seq anno feature ids: VSP_034746
up seq anno feature ids: VSP_034747
up seq anno feature ids: VSP_055629
up seq anno feature ids: VSP_055630

9606:TMEM177
gene id: 9606:TMEM177
uniprot id: Q53S58
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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 comments: Helical
up seq anno comments: Mitochondrial intermembrane
up seq anno comments: Mitochondrial matrix
up seq anno comments: Transmembrane protein 177
up seq anno feature ids: PRO_0000282646
up seq anno feature ids: VAR_031421
up seq anno feature ids: VAR_031422
up seq anno feature ids: VAR_031423

9606:CD3E
gene id: 9606:CD3E
uniprot id: P07766
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 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: 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: Extracellular
up seq anno comments: Helical
up seq anno comments: ITAM
up seq anno comments: Ig-like
up seq anno comments: Phosphotyrosine
up seq anno comments: T-cell surface glycoprotein CD3 epsilon chain
up seq anno feature ids: PRO_0000014607

9606:KRBA1
gene id: 9606:KRBA1
uniprot id: A0A0C4DH65
uniprot id: A5PL33
up 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 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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
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: Pro residues
up seq anno comments: Protein KRBA1
up seq anno feature ids: PRO_0000300111
up seq anno feature ids: VAR_056922
up seq anno feature ids: VAR_068701
up seq anno feature ids: VSP_027779
up seq anno feature ids: VSP_027780

9606:EFNA3
gene id: 9606:EFNA3
uniprot id: P52797
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 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 labels: Splice Variant
up seq anno comments: Ephrin RBD
up seq anno comments: Ephrin-A3
up seq anno comments: GPI-anchor amidated glycine
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_0000008369
up seq anno feature ids: PRO_0000008370
up seq anno feature ids: VAR_048937
up seq anno feature ids: VSP_055483

9606:ZNF354C
gene id: 9606:ZNF354C
uniprot id: Q86Y25
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 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 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: KRAB
up seq anno comments: Zinc finger protein 354C
up seq anno feature ids: PRO_0000280408
up seq anno feature ids: VAR_031138
up seq anno feature ids: VAR_031139
up seq anno feature ids: VAR_031140

9606:B4GALT5
gene id: 9606:B4GALT5
uniprot id: O43286
up 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: 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: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Beta-1,4-galactosyltransferase 5
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 feature ids: PRO_0000080545
up seq anno feature ids: VAR_024468
up seq anno feature ids: VAR_033538
up seq anno feature ids: VAR_054022

9606:MUC19
gene id: 9606:MUC19
uniprot id: Q7Z5P9
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 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: 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: CTCK
up seq anno comments: In isoform 2.
up seq anno comments: Mucin-19
up seq anno comments: Polar residues
up seq anno comments: VWFC
up seq anno comments: VWFD 1
up seq anno comments: VWFD 2
up seq anno comments: VWFD 3
up seq anno feature ids: PRO_0000342664
up seq anno feature ids: VAR_056617
up seq anno feature ids: VAR_056618
up seq anno feature ids: VAR_056619
up seq anno feature ids: VAR_056620
up seq anno feature ids: VAR_056621
up seq anno feature ids: VAR_056622
up seq anno feature ids: VAR_056623
up seq anno feature ids: VAR_056624
up seq anno feature ids: VAR_056625
up seq anno feature ids: VAR_056626
up seq anno feature ids: VAR_056627
up seq anno feature ids: VAR_056628
up seq anno feature ids: VAR_056629
up seq anno feature ids: VAR_056630
up seq anno feature ids: VAR_056631
up seq anno feature ids: VAR_056632
up seq anno feature ids: VAR_056633
up seq anno feature ids: VAR_056634
up seq anno feature ids: VAR_056635
up seq anno feature ids: VAR_056636
up seq anno feature ids: VAR_056637
up seq anno feature ids: VAR_056638
up seq anno feature ids: VAR_056639
up seq anno feature ids: VAR_056640
up seq anno feature ids: VSP_034521
up seq anno feature ids: VSP_034522

9606:NAV2
gene id: 9606:NAV2
uniprot id: A7E2D6
uniprot id: Q8IVL1
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: Secondary Structure
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: 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: Basic and acidic residues
up seq anno comments: Calponin-homology (CH)
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:THYN1
gene id: 9606:THYN1
uniprot id: A0A024R3M1
uniprot id: Q9P016
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 labels: Chain
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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: EVE
up seq anno comments: In isoform 2.
up seq anno comments: Nuclear localization signal
up seq anno comments: Polar residues
up seq anno comments: Thymocyte nuclear protein 1
up seq anno feature ids: PRO_0000262564
up seq anno feature ids: VSP_021789

9606:PTPRCAP
gene id: 9606:PTPRCAP
uniprot id: Q14761
up 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 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: Protein tyrosine phosphatase receptor type C-associated protein
up seq anno feature ids: PRO_0000097087
up seq anno feature ids: VAR_061698

9606:KRTAP1-5
gene id: 9606:KRTAP1-5
uniprot id: Q9BYS1
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno comments: Keratin-associated protein 1-5
up seq anno feature ids: PRO_0000185161

9606:RIIAD1
gene id: 9606:RIIAD1
uniprot id: A6NNX1
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: RIIa
up seq anno comments: RIIa domain-containing protein 1
up seq anno feature ids: PRO_0000342467

9606:SHROOM3
gene id: 9606:SHROOM3
uniprot id: B3KY47
uniprot id: Q8TF72
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: ASD1
up seq anno comments: ASD2
up seq anno comments: Basic and acidic residues
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: Pro residues
up seq anno comments: Protein Shroom3
up seq anno feature ids: PRO_0000286066
up seq anno feature ids: VAR_032062
up seq anno feature ids: VAR_032063
up seq anno feature ids: VAR_032064
up seq anno feature ids: VAR_032065
up seq anno feature ids: VSP_024965
up seq anno feature ids: VSP_024966
up seq anno feature ids: VSP_024967
up seq anno feature ids: VSP_024968

9606:MED30
gene id: 9606:MED30
uniprot id: Q96HR3
up 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 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: Splice Variant
up seq anno labels: Strand
up seq anno comments: In isoform 2.
up seq anno comments: Mediator of RNA polymerase II transcription subunit 30
up seq anno comments: N-acetylserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000239406
up seq anno feature ids: VSP_053904

9606:TMEM208
gene id: 9606:TMEM208
uniprot id: J3KRY7
uniprot id: Q9BTX3
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 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 labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylmethionine
up seq anno comments: Transmembrane protein 208
up seq anno feature ids: PRO_0000325967
up seq anno feature ids: VAR_039958
up seq anno feature ids: VAR_053933
up seq anno feature ids: VSP_032505

9606:PRKD3
gene id: 9606:PRKD3
uniprot id: O94806
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: Secondary Structure
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: 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 labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: In a glioblastoma multiforme sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Increased ability to bind DAG, no effect on phorbol-ester binding.
up seq anno comments: No effect on ability to bind phorbol ester, increase in ability to bind DAG.
up seq anno comments: No effect on ability to bind phorbol ester, loss of ability to bind DAG, reduced DAG-induced membrane translocation.
up seq anno comments: PH
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: Phosphoserine; by PKC
up seq anno comments: Phosphoserine; by autocatalysis
up seq anno comments: Phosphothreonine
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: Serine/threonine-protein kinase D3
up seq anno comments: Slight increase in ability to bind DAG, no effect on phorbol-ester binding.
up seq anno comments: Slight loss in ability to bind DAG and phorbol-ester.
up seq anno comments: Slight loss in ability to bind DAG and phorbol-ester; when associated with A-156.
up seq anno comments: Slight loss in ability to bind DAG and phorbol-ester; when associated with F-158.
up seq anno feature ids: PRO_0000055717
up seq anno feature ids: VAR_037147
up seq anno feature ids: VAR_037148
up seq anno feature ids: VAR_037149
up seq anno feature ids: VAR_042336
up seq anno feature ids: VAR_050561
up seq anno feature ids: VAR_061532
up seq anno feature ids: VSP_029405
up seq anno feature ids: VSP_029406

9606:UBTFL1
gene id: 9606:UBTFL1
uniprot id: P0CB47
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 comments: Basic and acidic residues
up seq anno comments: HMG box 1
up seq anno comments: HMG box 2
up seq anno comments: Polar residues
up seq anno comments: Upstream-binding factor 1-like protein 1
up seq anno feature ids: PRO_0000386640

9606:CAPN12
gene id: 9606:CAPN12
uniprot id: Q6ZSI9
up 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 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: Calpain catalytic
up seq anno comments: Calpain-12
up seq anno comments: EF-hand
up seq anno feature ids: PRO_0000207730
up seq anno feature ids: VAR_051516

9606:GOLIM4
gene id: 9606:GOLIM4
uniprot id: F8W785
uniprot id: O00461
up 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 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: Initiator Methionine
up seq anno labels: Lipid Binding
up seq anno labels: Modified Residue
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: Golgi integral membrane protein 4
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: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: N-myristoyl glycine
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: Removed
up seq anno feature ids: PRO_0000285097
up seq anno feature ids: VAR_036611

9606:SAMD8
gene id: 9606:SAMD8
uniprot id: Q96LT4
uniprot id: V9HVY4
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: Site
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: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Abolishes CPE synthase activity.
up seq anno comments: Cytoplasmic
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: SAM
up seq anno comments: Sphingomyelin synthase-related protein 1
up seq anno feature ids: PRO_0000221080
up seq anno feature ids: VSP_038403
up seq anno feature ids: VSP_038404

9606:JMJD6
gene id: 9606:JMJD6
uniprot id: Q6NYC1
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: Secondary Structure
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: 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 2-oxoglutarate-binding and enzyme activity.
up seq anno comments: Bifunctional arginine demethylase and lysyl-hydroxylase JMJD6
up seq anno comments: Decreases interaction with the NET domain of BRD4.
up seq anno comments: Impairs both hydroxylation activity and 2-oxoglutarate turnover assays.
up seq anno comments: Impairs enzyme activity and 2-oxoglutarate-binding.
up seq anno comments: Impairs enzyme activity without affecting 2-oxoglutarate-binding.
up seq anno comments: Impairs enzyme activity.
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 2.
up seq anno comments: JmjC
up seq anno comments: Loss of arginine demethylase and a lysyl-hydroxylase activities; when associated with A-187 and A-189.
up seq anno comments: Loss of arginine demethylase and a lysyl-hydroxylase activities; when associated with A-187 and A-273.
up seq anno comments: Loss of histone arginine demethylase and lysyl-hydroxylase activities. Abolishes homooligomerisation. Loss of arginine demethylase and a lysyl-hydroxylase activities; when associated with A-189 and A-273.
up seq anno comments: Nearly abolishes the interaction with the NET domain of BRD4.
up seq anno comments: Nuclear localization signal 1
up seq anno comments: Nuclear localization signal 2
up seq anno comments: Nuclear localization signal 3
up seq anno comments: Nuclear localization signal 4
up seq anno comments: Nuclear localization signal 5
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000129369
up seq anno feature ids: VSP_014022
up seq anno feature ids: VSP_014023

9606:HEATR1
gene id: 9606:HEATR1
uniprot id: A2VDI1
uniprot id: B2RWN5
uniprot id: Q9H583
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 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: Repeat
up seq anno labels: Sequence Variant
up seq anno comments: BP28CT
up seq anno comments: Confirmed at protein level.
up seq anno comments: HEAT
up seq anno comments: HEAT repeat-containing protein 1
up seq anno comments: HEAT repeat-containing protein 1, N-terminally processed
up seq anno comments: N-acetylmethionine
up seq anno comments: N-acetylthreonine; in HEAT repeat-containing protein 1, N-terminally processed
up seq anno comments: Phosphoserine
up seq anno comments: Removed; alternate
up seq anno feature ids: PRO_0000186201
up seq anno feature ids: PRO_0000424485
up seq anno feature ids: VAR_010939
up seq anno feature ids: VAR_010940
up seq anno feature ids: VAR_010941
up seq anno feature ids: VAR_010942
up seq anno feature ids: VAR_049329
up seq anno feature ids: VAR_049330
up seq anno feature ids: VAR_049331
up seq anno feature ids: VAR_049332
up seq anno feature ids: VAR_049333
up seq anno feature ids: VAR_049334
up seq anno feature ids: VAR_049335

9606:DICER1
gene id: 9606:DICER1
uniprot id: Q9UPY3
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: Secondary Structure
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: 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: 10-fold decrease in activity; when associated with Y-971.
up seq anno comments: 10-fold decrease in activity; when associated with Y-972.
up seq anno comments: 2-fold decrease in activity.
up seq anno comments: 5-fold decrease in activity.
up seq anno comments: Acidic residues
up seq anno comments: DECH box
up seq anno comments: DRBM
up seq anno comments: Decreased activity. Loss of activity; when associated with D-1320.
up seq anno comments: Decreased activity. Loss of activity; when associated with D-1709.
up seq anno comments: Decreased activity. Loss of activity; when associated with E-1444.
up seq anno comments: Decreased activity. Loss of activity; when associated with E-1813.
up seq anno comments: Dicer dsRNA-binding fold
up seq anno comments: Endoribonuclease Dicer
up seq anno comments: Found in Wilms tumor from a patient with GLOW syndrome; somatic mutation; unknown pathological significance.
up seq anno comments: Helicase ATP-binding
up seq anno comments: Helicase C-terminal
up seq anno comments: In GLOW; somatic mutation.
up seq anno comments: In MNG1.
up seq anno comments: In PPB.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In non-epithelial ovarian tumor; somatic mutation.
up seq anno comments: In non-epithelial ovarian tumor; somatic mutation; results in reduced RNase IIIb activity but retention of RNase IIIa activity.
up seq anno comments: No effect on activity.
up seq anno comments: PAZ
up seq anno comments: Phosphoserine
up seq anno comments: RNase III 1
up seq anno comments: RNase III 2
up seq anno feature ids: PRO_0000180470
up seq anno feature ids: VAR_063150
up seq anno feature ids: VAR_065301
up seq anno feature ids: VAR_067091
up seq anno feature ids: VAR_067092
up seq anno feature ids: VAR_067093
up seq anno feature ids: VAR_067094
up seq anno feature ids: VAR_067095
up seq anno feature ids: VAR_067096
up seq anno feature ids: VAR_067097
up seq anno feature ids: VAR_067098
up seq anno feature ids: VAR_067099
up seq anno feature ids: VAR_067100
up seq anno feature ids: VAR_081917
up seq anno feature ids: VAR_081918
up seq anno feature ids: VAR_081919
up seq anno feature ids: VAR_081920
up seq anno feature ids: VSP_042832
up seq anno feature ids: VSP_055341
up seq anno feature ids: VSP_055342

9606:SCAMP4
gene id: 9606:SCAMP4
uniprot id: Q969E2
up 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 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: In isoform 3.
up seq anno comments: Phosphothreonine
up seq anno comments: Secretory carrier-associated membrane protein 4
up seq anno feature ids: PRO_0000191259
up seq anno feature ids: VAR_061783
up seq anno feature ids: VSP_026446
up seq anno feature ids: VSP_026447

9606:ODAD1
gene id: 9606:ODAD1
uniprot id: Q96M63
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: In CILD20; expressed at very low levels in patients' nasal epithelial cells; the genetic variation producing this missense variant predominantly affects splicing.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Outer dynein arm-docking complex subunit 1
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000288807
up seq anno feature ids: VAR_032501
up seq anno feature ids: VAR_032502
up seq anno feature ids: VAR_086948
up seq anno feature ids: VSP_036212
up seq anno feature ids: VSP_036213
up seq anno feature ids: VSP_036214

9606:POFUT2
gene id: 9606:POFUT2
uniprot id: Q9Y2G5
uniprot id: S6FW71
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: Secondary Structure
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: Helix
up seq anno labels: Mutagenesis Site
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 enzyme 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:C14orf93
gene id: 9606:C14orf93
uniprot id: Q9H972
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
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: Basic and acidic residues
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: Uncharacterized protein C14orf93
up seq anno feature ids: PRO_0000020950
up seq anno feature ids: VAR_050875
up seq anno feature ids: VSP_007850

9606:ZSCAN21
gene id: 9606:ZSCAN21
uniprot id: Q9Y5A6
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: 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: 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:LAMC2
gene id: 9606:LAMC2
uniprot id: Q13753
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 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 labels: Splice Variant
up seq anno comments: In isoform Short.
up seq anno comments: Interchain
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; first part
up seq anno comments: Laminin EGF-like 4; second part
up seq anno comments: Laminin EGF-like 5
up seq anno comments: Laminin EGF-like 6
up seq anno comments: Laminin EGF-like 7
up seq anno comments: Laminin EGF-like 8; truncated
up seq anno comments: Laminin IV type A
up seq anno comments: Laminin subunit gamma-2
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000017077
up seq anno feature ids: VAR_020304
up seq anno feature ids: VAR_022017
up seq anno feature ids: VAR_050081
up seq anno feature ids: VAR_050082
up seq anno feature ids: VAR_050083
up seq anno feature ids: VAR_050084
up seq anno feature ids: VAR_050085
up seq anno feature ids: VSP_003040

9606:SNX1
gene id: 9606:SNX1
uniprot id: Q13596
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: Secondary Structure
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: 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: Abolishes membrane remodeling capacity; no effect on dimerization.
up seq anno comments: Abolishes phosphatidylinositol phosphate binding. Abolishes endosomal location.
up seq anno comments: BAR
up seq anno comments: In isoform 1A.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of endosomal location.
up seq anno comments: N6-acetyllysine
up seq anno comments: No effect on membrane remodeling and membrane binding; when associated with A-442.
up seq anno comments: No effect on membrane remodeling and membrane binding; when associated with A-445.
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-1
up seq anno feature ids: PRO_0000213835
up seq anno feature ids: VAR_034507
up seq anno feature ids: VAR_052477
up seq anno feature ids: VSP_006189
up seq anno feature ids: VSP_044823

9606:PGP
gene id: 9606:PGP
uniprot id: A6NDG6
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 comments: Glycerol-3-phosphate phosphatase
up seq anno comments: Nucleophile
up seq anno comments: Proton donor
up seq anno feature ids: PRO_0000316888

9606:CCNH
gene id: 9606:CCNH
uniprot id: P51946
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: Secondary Structure
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: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Cyclin-H
up seq anno comments: No effect on the transcriptional activity of the reconstituted TFIIH complex.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CDK8
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000080471
up seq anno feature ids: VAR_013067
up seq anno feature ids: VAR_013068
up seq anno feature ids: VAR_013069
up seq anno feature ids: VAR_013070

9606:PREX2
gene id: 9606:PREX2
uniprot id: Q70Z35
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 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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: DEP 1
up seq anno comments: DEP 2
up seq anno comments: DH
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: PDZ 1
up seq anno comments: PDZ 2
up seq anno comments: PH
up seq anno comments: Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein
up seq anno feature ids: PRO_0000286795
up seq anno feature ids: VAR_032163
up seq anno feature ids: VAR_035973
up seq anno feature ids: VAR_035974
up seq anno feature ids: VSP_025150
up seq anno feature ids: VSP_025152
up seq anno feature ids: VSP_055612
up seq anno feature ids: VSP_055613
up seq anno feature ids: VSP_055614

9606:FAN1
gene id: 9606:FAN1
uniprot id: Q9Y2M0
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: Secondary Structure
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: 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 labels: Zinc Finger
up seq anno comments: Abolishes interaction with monoubiquitinated FANCD2; when associated with A-44.
up seq anno comments: Abolishes interaction with monoubiquitinated FANCD2; when associated with A-47.
up seq anno comments: Basic and acidic residues
up seq anno comments: D-box
up seq anno comments: Fanconi-associated nuclease 1
up seq anno comments: In KMIN.
up seq anno comments: In KMIN; partially complement cell survival upon exposure to mitomycin C.
up seq anno comments: In isoform 2.
up seq anno comments: KEN box
up seq anno comments: Loss of nuclease activity.
up seq anno comments: Loss of nuclease activity. Loss of nuclease activity; when associated with A-864; A-975 and A-977.
up seq anno comments: Loss of nuclease activity; when associated with A-864; A-960 and A-975.
up seq anno comments: Loss of nuclease activity; when associated with A-864; A-960 and A-977.
up seq anno comments: Loss of nuclease activity; when associated with A-960; A-975 and A-977.
up seq anno comments: Phosphoserine
up seq anno comments: Still localized to sites of DNA damage but the strength of the signal is diminished.
up seq anno comments: Strongly reduced affinity for sites that have a 5'-terminal phosphate anchor at a flap of 1 nucleotide; when associated with A-706.
up seq anno comments: Strongly reduced affinity for sites that have a 5'-terminal phosphate anchor at a flap of 1 nucleotide; when associated with A-952.
up seq anno comments: UBZ4-type
up seq anno comments: VRR-NUC
up seq anno feature ids: PRO_0000311224
up seq anno feature ids: VAR_037167
up seq anno feature ids: VAR_068958
up seq anno feature ids: VAR_068959
up seq anno feature ids: VAR_068960
up seq anno feature ids: VAR_068961
up seq anno feature ids: VSP_029429
up seq anno feature ids: VSP_029430

9606:CACFD1
gene id: 9606:CACFD1
uniprot id: Q9UGQ2
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 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: Calcium channel flower homolog
up seq anno comments: Helical
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno feature ids: PRO_0000089671
up seq anno feature ids: VAR_069103
up seq anno feature ids: VSP_012997
up seq anno feature ids: VSP_042522

9606:TTLL7
gene id: 9606:TTLL7
uniprot id: Q6ZT98
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: 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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 40% decreased polyglutamylase activity.
up seq anno comments: 45% decreased binding to microtubules. Decreased polyglutamylase activity. 76% decreased binding to microtubules; when associated with 425-E--E-427.
up seq anno comments: 69% decreased polyglutamylase activity.
up seq anno comments: 70% decreased polyglutamylase activity.
up seq anno comments: 76% decreased binding to microtubules; when associated with 385-E--E-393.
up seq anno comments: Basic and acidic residues
up seq anno comments: Decreased polyglutamylase activity.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of polyglutamylase activity.
up seq anno comments: Nearly abolished polyglutamylase activity.
up seq anno comments: Polar residues
up seq anno comments: TTL
up seq anno comments: Tubulin polyglutamylase TTLL7
up seq anno feature ids: PRO_0000212444
up seq anno feature ids: VSP_015199
up seq anno feature ids: VSP_015200
up seq anno feature ids: VSP_015201
up seq anno feature ids: VSP_015202

9606:CFL1
gene id: 9606:CFL1
uniprot id: P23528
uniprot id: V9HWI5
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 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: Strand
up seq anno labels: Turn
up seq anno comments: ADF-H
up seq anno comments: Cofilin-1
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: N6-acetyllysine
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by NRK
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000214898

9606:NIT1
gene id: 9606:NIT1
uniprot id: B7Z410
uniprot id: Q86X76
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: Site
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: Transit Peptide
up seq anno comments: CN hydrolase
up seq anno comments: Deaminated glutathione amidase
up seq anno comments: In isoform 1.
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: Nucleophile
up seq anno comments: Proton acceptor
up seq anno comments: Proton donor
up seq anno feature ids: PRO_0000213251
up seq anno feature ids: VSP_011544
up seq anno feature ids: VSP_011545
up seq anno feature ids: VSP_011546
up seq anno feature ids: VSP_011547
up seq anno feature ids: VSP_053711
up seq anno feature ids: VSP_053712

9606:LINGO1
gene id: 9606:LINGO1
uniprot id: Q96FE5
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: Secondary Structure
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: 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: Extracellular
up seq anno comments: Helical
up seq anno comments: Ig-like C2-type
up seq anno comments: In MRT64.
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: LRRCT
up seq anno comments: LRRNT
up seq anno comments: Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000328642
up seq anno feature ids: VAR_042436
up seq anno feature ids: VAR_081164
up seq anno feature ids: VAR_081165
up seq anno feature ids: VSP_032749

9606:DNAJC16
gene id: 9606:DNAJC16
uniprot id: Q9Y2G8
up 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 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: 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: DnaJ homolog subfamily C member 16
up seq anno comments: Extracellular
up seq anno comments: Helical; Anchor for type IV membrane protein
up seq anno comments: In isoform 2.
up seq anno comments: J
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Thioredoxin
up seq anno feature ids: PRO_0000236683
up seq anno feature ids: VSP_018583

9606:SYT14
gene id: 9606:SYT14
uniprot id: A0A1B0GTZ1
uniprot id: A1L3Y1
uniprot id: Q8NB59
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: C2
up seq anno comments: C2 1
up seq anno comments: C2 2
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Helical; Signal-anchor for type III membrane protein
up seq anno comments: In SCAR11; shows intracellular localization different from that of the wild-type protein; forms a reticular pattern in the cytoplasm; does not show submembranous distribution; is abnormally retained in the endoplasmic reticulum consistent to improper folding.
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 and isoform 7.
up seq anno comments: In isoform 7.
up seq anno comments: Polar residues
up seq anno comments: Synaptotagmin-14
up seq anno feature ids: PRO_0000183978
up seq anno feature ids: VAR_066663
up seq anno feature ids: VAR_066664
up seq anno feature ids: VSP_011602
up seq anno feature ids: VSP_011603
up seq anno feature ids: VSP_011604
up seq anno feature ids: VSP_011605
up seq anno feature ids: VSP_011606
up seq anno feature ids: VSP_011607
up seq anno feature ids: VSP_011608
up seq anno feature ids: VSP_046124

9606:TDRD1
gene id: 9606:TDRD1
uniprot id: A0A140VJW6
uniprot id: H9KV63
uniprot id: Q9BXT4
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: 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: 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: 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: MYND-type
up seq anno comments: Polar residues
up seq anno comments: Tudor
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 domain-containing protein 1
up seq anno feature ids: PRO_0000183161
up seq anno feature ids: VAR_057321
up seq anno feature ids: VAR_057322
up seq anno feature ids: VSP_035481
up seq anno feature ids: VSP_035482
up seq anno feature ids: VSP_036667
up seq anno feature ids: VSP_036668
up seq anno feature ids: VSP_036669
up seq anno feature ids: VSP_036670

9606:ZDHHC15
gene id: 9606:ZDHHC15
uniprot id: B3KY34
uniprot id: Q96MV8
up 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 labels: Active Site
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: DHHC
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: Lumenal
up seq anno comments: Palmitoyltransferase ZDHHC15
up seq anno comments: S-palmitoyl cysteine intermediate
up seq anno feature ids: PRO_0000212893
up seq anno feature ids: VSP_013206
up seq anno feature ids: VSP_013207
up seq anno feature ids: VSP_013208

9606:TMEM39A
gene id: 9606:TMEM39A
uniprot id: Q9NV64
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 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: Helical
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: Transmembrane protein 39A
up seq anno feature ids: PRO_0000279224
up seq anno feature ids: VAR_030871
up seq anno feature ids: VAR_036095
up seq anno feature ids: VSP_023416
up seq anno feature ids: VSP_023417

9606:MRPL43
gene id: 9606:MRPL43
uniprot id: A8K4V4
uniprot id: Q8N983
up 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 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: Transit Peptide
up seq anno labels: Turn
up seq anno comments: 39S ribosomal protein L43, mitochondrial
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: L51_S25_CI-B8
up seq anno comments: Mitochondrion
up seq anno feature ids: PRO_0000030561
up seq anno feature ids: VSP_011026
up seq anno feature ids: VSP_011027
up seq anno feature ids: VSP_011028
up seq anno feature ids: VSP_011029
up seq anno feature ids: VSP_011030
up seq anno feature ids: VSP_054092
up seq anno feature ids: VSP_054093

9606:VWCE
gene id: 9606:VWCE
uniprot id: Q96DN2
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 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: Sequence Conflict
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
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: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
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 comments: von Willebrand factor C and EGF domain-containing protein
up seq anno feature ids: PRO_0000318580
up seq anno feature ids: VAR_038782
up seq anno feature ids: VSP_031230
up seq anno feature ids: VSP_031231

9606:MAPK13
gene id: 9606:MAPK13
uniprot id: A0A024RD04
uniprot id: O15264
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: Secondary Structure
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: 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: In isoform 2.
up seq anno comments: Loss of kinase activity.
up seq anno comments: Mitogen-activated protein kinase 13
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine; by MAP2K3, MAP2K4, MAP2K6 and MAP2K7
up seq anno comments: Phosphotyrosine; by MAP2K3, MAP2K4, MAP2K6 and MAP2K7
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: TXY
up seq anno feature ids: PRO_0000186286
up seq anno feature ids: VAR_042267
up seq anno feature ids: VAR_042268
up seq anno feature ids: VAR_042269
up seq anno feature ids: VSP_056558
up seq anno feature ids: VSP_056559

9606:LIN28A
gene id: 9606:LIN28A
uniprot id: Q9H9Z2
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 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 labels: Zinc Finger
up seq anno comments: Abolishes ability to suppress pre-let-7 biogenesis and localization to P-bodies without affecting pre-let-7 binding; when associated with A-147.
up seq anno comments: Abolishes ability to suppress pre-let-7 biogenesis and localization to P-bodies without affecting pre-let-7 binding; when associated with A-169.
up seq anno comments: CCHC-type 1
up seq anno comments: CCHC-type 2
up seq anno comments: CSD
up seq anno comments: Does not affect localization to P-bodies; when associated with A-46 and A-55.
up seq anno comments: Does not affect localization to P-bodies; when associated with A-46 and A-73.
up seq anno comments: Does not affect localization to P-bodies; when associated with A-55 and A-73.
up seq anno comments: N-acetylglycine
up seq anno comments: Phosphoserine
up seq anno comments: Protein lin-28 homolog A
up seq anno comments: Removed
up seq anno feature ids: PRO_0000253787

9606:RCAN3
gene id: 9606:RCAN3
uniprot id: A0A024RAH2
uniprot id: Q9UKA8
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 labels: Chain
up seq anno labels: Compositionally Biased 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: Calcipressin-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: Polar residues
up seq anno feature ids: PRO_0000211420
up seq anno feature ids: VAR_033727
up seq anno feature ids: VSP_001319
up seq anno feature ids: VSP_045968
up seq anno feature ids: VSP_045969
up seq anno feature ids: VSP_045970
up seq anno feature ids: VSP_045971
up seq anno feature ids: VSP_047510
up seq anno feature ids: VSP_054855

9606:HIVEP2
gene id: 9606:HIVEP2
uniprot id: P31629
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
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: Zinc Finger
up seq anno comments: 1
up seq anno comments: 10
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: 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: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Transcription factor HIVEP2
up seq anno feature ids: PRO_0000047371
up seq anno feature ids: VAR_052754
up seq anno feature ids: VAR_052755
up seq anno feature ids: VAR_052756
up seq anno feature ids: VAR_052757

9606:FTCD
gene id: 9606:FTCD
uniprot id: O95954
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Site
up seq anno labels: Active 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 comments: For cyclodeaminase activity
up seq anno comments: For formimidoyltransferase activity
up seq anno comments: Formimidoyltransferase-cyclodeaminase
up seq anno comments: In FIGLU-URIA; mild phenotype; decreased glutamate formimidoyltransferase activity; 57% wild-type activity.
up seq anno comments: In FIGLU-URIA; mild phenotype; decreased glutamate formimidoyltransferase activity; 61% of wild-type activity.
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: Phosphoserine
up seq anno feature ids: PRO_0000087359
up seq anno feature ids: VAR_015887
up seq anno feature ids: VAR_015888
up seq anno feature ids: VAR_015889
up seq anno feature ids: VSP_004257
up seq anno feature ids: VSP_004258
up seq anno feature ids: VSP_004259
up seq anno feature ids: VSP_004260

9606:LRRC59
gene id: 9606:LRRC59
uniprot id: Q96AG4
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: 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: 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: 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:TUT1
gene id: 9606:TUT1
uniprot id: A0A0A8K9B1
uniprot id: F5H0R1
uniprot id: Q9H6E5
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: Secondary Structure
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: 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 labels: Zinc Finger
up seq anno comments: Abolishes adenylyltransferase activity; when associated with A-216.
up seq anno comments: Abolishes adenylyltransferase activity; when associated with A-218.
up seq anno comments: Basic and acidic residues
up seq anno comments: Matrin-type
up seq anno comments: PAP-associated
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: RRM
up seq anno comments: Reduced terminal uridylyltransferase activity; when associated with A-779.
up seq anno comments: Reduced terminal uridylyltransferase activity; when associated with A-783.
up seq anno comments: Speckle targeted PIP5K1A-regulated poly(A) polymerase
up seq anno feature ids: PRO_0000254186
up seq anno feature ids: VAR_028833

9606:RRAGA
gene id: 9606:RRAGA
uniprot id: Q7L523
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: Secondary Structure
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: 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: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Phosphoserine
up seq anno comments: Prevents RRAGA ubiquitination and alters interaction and regulation by GATOR1; when associated with R-142, R-230 and R-244.
up seq anno comments: Prevents RRAGA ubiquitination and alters interaction and regulation by GATOR1; when associated with R-220, R-230 and R-244.
up seq anno comments: Prevents RRAGA ubiquitination and alters interaction and regulation by GATOR1; when associated with RR-142, R-220 and R-230.
up seq anno comments: Prevents RRAGA ubiquitination and alters interaction and regulation by GATOR1; when associated with RR-142, R-220 and R-244.
up seq anno comments: Ras-related GTP-binding protein A
up seq anno comments: Reduced affinity for all nucleotides, but with preferential binding of GDP over GTP.
up seq anno feature ids: PRO_0000239945

9606:SNX17
gene id: 9606:SNX17
uniprot id: B4DDM3
uniprot id: B4DQ37
uniprot id: B4DTB8
uniprot id: Q15036
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: Secondary Structure
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: 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: In isoform 2.
up seq anno comments: No association with endosomes.
up seq anno comments: No effect on interaction with CCDC22, CCDC93, VPS26C and VPS35L.
up seq anno comments: PX
up seq anno comments: Phosphoserine
up seq anno comments: Ras-associating
up seq anno comments: SNX17_FERM_C
up seq anno comments: Slightly decreases interaction with CCDC22, CCDC93, VPS26C and VPS35L.
up seq anno comments: Sorting nexin-17
up seq anno comments: Strongly decreases interaction with CCDC22, CCDC93, VPS26C and VPS35L. No effect on endosomal location.
up seq anno feature ids: PRO_0000213865
up seq anno feature ids: VSP_044935

9606:CCDC146
gene id: 9606:CCDC146
uniprot id: Q8IYE0
uniprot id: Q96MS1
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 labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased 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: Coiled-coil domain-containing protein 146
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000317252
up seq anno feature ids: VAR_050742
up seq anno feature ids: VAR_061583
up seq anno feature ids: VAR_061584
up seq anno feature ids: VSP_030926
up seq anno feature ids: VSP_030927

9606:SF3B3
gene id: 9606:SF3B3
uniprot id: A8K6V3
uniprot id: Q15393
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: Secondary Structure
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: CPSF_A
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: MMS1_N
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Splicing factor 3B subunit 3
up seq anno feature ids: PRO_0000218639
up seq anno feature ids: VAR_053647
up seq anno feature ids: VSP_022977
up seq anno feature ids: VSP_022978
up seq anno feature ids: VSP_022979

9606:EXOG
gene id: 9606:EXOG
uniprot id: Q9Y2C4
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: Secondary Structure
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: Helix
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 catalytic activity.
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: Mitochondrion
up seq anno comments: No effect on catalytic activity.
up seq anno comments: Nuclease EXOG, mitochondrial
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000178669
up seq anno feature ids: VAR_044320
up seq anno feature ids: VSP_034506
up seq anno feature ids: VSP_034507
up seq anno feature ids: VSP_034508
up seq anno feature ids: VSP_041214

9606:EPHA1
gene id: 9606:EPHA1
uniprot id: P21709
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: Secondary Structure
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: 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:BOLA2B
gene id: 9606:BOLA2B
uniprot id: Q9H3K6
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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:MAP3K6
gene id: 9606:MAP3K6
uniprot id: O95382
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: 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: 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 a breast cancer sample; somatic mutation.
up seq anno comments: In a breast pleomorphic lobular carcinoma sample; somatic mutation.
up seq anno comments: In an ovarian endometrioid cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Mitogen-activated protein kinase kinase kinase 6
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_0000086251
up seq anno feature ids: VAR_032832
up seq anno feature ids: VAR_032833
up seq anno feature ids: VAR_032834
up seq anno feature ids: VAR_035629
up seq anno feature ids: VAR_046050
up seq anno feature ids: VAR_046051
up seq anno feature ids: VAR_046052
up seq anno feature ids: VAR_046053
up seq anno feature ids: VAR_046054
up seq anno feature ids: VAR_046055
up seq anno feature ids: VAR_046056
up seq anno feature ids: VAR_046057
up seq anno feature ids: VSP_026201
up seq anno feature ids: VSP_026202
up seq anno feature ids: VSP_026203
up seq anno feature ids: VSP_026204

9606:CRYBA1
gene id: 9606:CRYBA1
uniprot id: P05813
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 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: 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: 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: 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:CILK1
gene id: 9606:CILK1
uniprot id: A0A024RD59
uniprot id: A0A7I2PIU1
uniprot id: B3KQG4
uniprot id: Q9UPZ9
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: 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: In ECO; significantly impairs kinase activity; decreased localization at the ciliary tips; impaired ciliogenesis; results in abnormally elongated cilia; impairs mitosis, cell-cycle exit and radial neuroblast migration, while promoting apoptosis, when tested in a heterologous system; loss of nuclear localization.
up seq anno comments: In EJM10; impairs mitosis, cell-cycle exit and radial neuroblast migration, while promoting apoptosis, when tested in a heterologous system.
up seq anno comments: In EJM10; unknown pathological significance.
up seq anno comments: In EJM10; unknown pathological significance; impairs mitosis, cell-cycle exit and radial neuroblast migration, while promoting apoptosis, when tested in a heterologous system.
up seq anno comments: In a renal clear cell carcinoma sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of activity and autophosphorylation; when associated with R-33; R-34 and R-36.
up seq anno comments: Loss of activity and autophosphorylation; when associated with R-33; R-34 and R-38.
up seq anno comments: Loss of activity and autophosphorylation; when associated with R-33; R-36 and R-38.
up seq anno comments: Loss of activity and autophosphorylation; when associated with R-34; R-36 and R-38.
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: Proton acceptor
up seq anno comments: Reduction of activity and loss of autophosphorylation. Loss of activity and autophosphorylation; when associated with A-157.
up seq anno comments: Reduction of activity and loss of autophosphorylation. Loss of activity and autophosphorylation; when associated with F-159.
up seq anno comments: Serine/threonine-protein kinase ICK
up seq anno feature ids: PRO_0000086007
up seq anno feature ids: VAR_042001
up seq anno feature ids: VAR_042002
up seq anno feature ids: VAR_042003
up seq anno feature ids: VAR_042004
up seq anno feature ids: VAR_042005
up seq anno feature ids: VAR_053931
up seq anno feature ids: VAR_057994
up seq anno feature ids: VAR_080554
up seq anno feature ids: VAR_080555
up seq anno feature ids: VAR_080556
up seq anno feature ids: VAR_080557
up seq anno feature ids: VAR_080558
up seq anno feature ids: VSP_050752
up seq anno feature ids: VSP_050753

9606:ZSCAN20
gene id: 9606:ZSCAN20
uniprot id: P17040
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: 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: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: SCAN box
up seq anno comments: Zinc finger and SCAN domain-containing protein 20
up seq anno feature ids: PRO_0000047360
up seq anno feature ids: VAR_054799
up seq anno feature ids: VAR_054800
up seq anno feature ids: VSP_036735
up seq anno feature ids: VSP_036736
up seq anno feature ids: VSP_036737
up seq anno feature ids: VSP_036738
up seq anno feature ids: VSP_036739

9606:TSPYL2
gene id: 9606:TSPYL2
uniprot id: Q9H2G4
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 labels: Chain
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: 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: Basic residues
up seq anno comments: Found in patients with mild intellectual disability; unknown pathological significance.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Impairs effect on cell proliferation; when associated with A-20.
up seq anno comments: Impairs effect on cell proliferation; when associated with A-340.
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: Testis-specific Y-encoded-like protein 2
up seq anno feature ids: PRO_0000289100
up seq anno feature ids: VAR_075536

9606:REEP2
gene id: 9606:REEP2
uniprot id: A8K3D2
uniprot id: Q9BRK0
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
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: Helical
up seq anno comments: In SPG72; abolishes REEP2 interaction with membranes; affects correct shaping of the endoplasmic reticulum.
up seq anno comments: In SPG72; reduces REEP2 interaction with membranes; affects correct shaping of the endoplasmic reticulum.
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Receptor expression-enhancing protein 2
up seq anno feature ids: PRO_0000101823
up seq anno feature ids: VAR_070996
up seq anno feature ids: VAR_070997
up seq anno feature ids: VSP_016633

9606:HLA-DMA
gene id: 9606:HLA-DMA
uniprot id: Q31604
uniprot id: Q6ICR9
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 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: Signal Peptide
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: Ig-like
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_5004274595
up seq anno feature ids: PRO_5015097382

9606:PDHA1
gene id: 9606:PDHA1
uniprot id: A0A024RBX9
uniprot id: P08559
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: Secondary Structure
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 inactivation by phosphorylation; when associated with A-232 and A-293.
up seq anno comments: Abolishes inactivation by phosphorylation; when associated with A-293 and A-300.
up seq anno comments: E1_dh
up seq anno comments: In PDHAD.
up seq anno comments: In PDHAD; affects mitochondrial import of precursor protein.
up seq anno comments: In PDHAD; loss of activity; common 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: Interferes with substrate binding.
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: Phosphoserine
up seq anno comments: Phosphoserine; by PDK1
up seq anno comments: Phosphoserine; by PDK1, PDK2, PDK3 and PDK4
up seq anno comments: Phosphotyrosine
up seq anno comments: Probable disease-associated variant found in a patient with moderate developmental delay, mild dysmorphism and mildly elevated serum lactate.
up seq anno comments: Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial
up seq anno comments: Reduces enzyme activity. Abolishes inactivation by phosphorylation; when associated with A-232 and A-300.
up seq anno feature ids: PRO_0000020440
up seq anno feature ids: VAR_004949
up seq anno feature ids: VAR_004950
up seq anno feature ids: VAR_004951
up seq anno feature ids: VAR_004952
up seq anno feature ids: VAR_004953
up seq anno feature ids: VAR_004954
up seq anno feature ids: VAR_004955
up seq anno feature ids: VAR_004956
up seq anno feature ids: VAR_004957
up seq anno feature ids: VAR_004958
up seq anno feature ids: VAR_004959
up seq anno feature ids: VAR_004960
up seq anno feature ids: VAR_004961
up seq anno feature ids: VAR_004962
up seq anno feature ids: VAR_004963
up seq anno feature ids: VAR_004964
up seq anno feature ids: VAR_004965
up seq anno feature ids: VAR_004966
up seq anno feature ids: VAR_010238
up seq anno feature ids: VAR_020908
up seq anno feature ids: VAR_020909
up seq anno feature ids: VAR_021053
up seq anno feature ids: VAR_021054
up seq anno feature ids: VAR_021055
up seq anno feature ids: VAR_021056
up seq anno feature ids: VAR_050436
up seq anno feature ids: VAR_069381
up seq anno feature ids: VSP_042569
up seq anno feature ids: VSP_042570
up seq anno feature ids: VSP_043363

9606:PHLDA2
gene id: 9606:PHLDA2
uniprot id: Q53GA4
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 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: Sequence Conflict
up seq anno comments: PH
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Pleckstrin homology-like domain family A member 2
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000053900

9606:LY6G5B
gene id: 9606:LY6G5B
uniprot id: A0A1U9X7Y3
uniprot id: N0E641
uniprot id: Q8NDX9
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 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 labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: Lymphocyte antigen 6 complex locus protein G5b
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: UPAR/Ly6
up seq anno feature ids: PRO_0000318602
up seq anno feature ids: PRO_5004106786
up seq anno feature ids: PRO_5010747595
up seq anno feature ids: VAR_038842
up seq anno feature ids: VAR_038843
up seq anno feature ids: VAR_038844
up seq anno feature ids: VSP_031255

9606:OR5H1
gene id: 9606:OR5H1
uniprot id: A0A126GW79
uniprot id: A6NKK0
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 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_RECEP_F1_2
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 5H1
up seq anno feature ids: PRO_0000310867
up seq anno feature ids: VAR_037089
up seq anno feature ids: VAR_037091
up seq anno feature ids: VAR_037092
up seq anno feature ids: VAR_037093

9606:CAPN6
gene id: 9606:CAPN6
uniprot id: Q9Y6Q1
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 labels: Chain
up seq anno labels: Domain Extent
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: 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:CELF4
gene id: 9606:CELF4
uniprot id: Q9BZC1
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 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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: CUGBP Elav-like family member 4
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 5.
up seq anno comments: RRM 1
up seq anno comments: RRM 2
up seq anno comments: RRM 3
up seq anno feature ids: PRO_0000295221
up seq anno feature ids: VAR_052203
up seq anno feature ids: VSP_026828
up seq anno feature ids: VSP_026829
up seq anno feature ids: VSP_026830
up seq anno feature ids: VSP_026831
up seq anno feature ids: VSP_026832

9606:KRTAP10-5
gene id: 9606:KRTAP10-5
uniprot id: P60370
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
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: 2
up seq anno comments: 20
up seq anno comments: 21
up seq anno comments: 22
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 10-5
up seq anno feature ids: PRO_0000185213
up seq anno feature ids: VAR_017696
up seq anno feature ids: VAR_017697
up seq anno feature ids: VAR_047505
up seq anno feature ids: VAR_047506
up seq anno feature ids: VAR_047507
up seq anno feature ids: VAR_062113

9606:PSEN1
gene id: 9606:PSEN1
uniprot id: A0A024R6A3
uniprot id: A0A0S2Z4D2
uniprot id: P49768
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: Secondary Structure
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: 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: 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 PKA-mediated phosphorylation; no effect on caspase-mediated cleavage.
up seq anno comments: Abolishes PKC-mediated phosphorylation; no effect on PKA-mediated phosphorylation.
up seq anno comments: Abolishes caspase cleavage.
up seq anno comments: Abolishes gamma-secretase activity. Reduces production of amyloid-beta in APP processing. Accumulation of full-length PS1. Loss of binding of transition state analog gamma-secretase inhibitor.
up seq anno comments: Abolishes protease activity with APP.
up seq anno comments: Alters gamma-secretase cleavage specificity. Increased production of amyloid-beta protein 42. No effect on enzymatic activity.
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Decreased protease activity with APP.
up seq anno comments: Decreased protease activity with APP. Increased amyloid-beta 42/amyloid-beta 40 ratio in vitro.
up seq anno comments: Formation of an artifactual disulfide bond with a substrate protein.
up seq anno comments: Found in a renal cell carcinoma sample; somatic mutation.
up seq anno comments: Greatly reduced endoproteolytic cleavage. Very little APP and NOTCH1 processing. Very low levels of amyloid-beta protein 40 and no detectable amyloid-beta protein 42.
up seq anno comments: Helical
up seq anno comments: Impaired ability to cleave Ephb2/CTF1.
up seq anno comments: In AD3.
up seq anno comments: In AD3; abolishes protease activity with APP resulting in decreased amyloid-beta 42 and amyloid-beta 40 production.
up seq anno comments: In AD3; abolishes protease activity with APP.
up seq anno comments: In AD3; abolishes protease activity with APP; decreased activity for Notch cleavage.
up seq anno comments: In AD3; affects APP processing resulting in increased amyloid-beta 42/amyloid-beta 40 ratio; does not affect NOTCH processing; does not affect endoproteolysis; reduced interaction with PEN2; results in decreased protein levels in the endoplasmic reticulum but increased levels in early endosome; reduced ability to maintain ER calcium homeostasis.
up seq anno comments: In AD3; also found in late-onset Alzheimer disease; impaired protease activity with APP; results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio; no effect on interaction with GFAP.
up seq anno comments: In AD3; atypical phenotype presenting as language impairment, impaired frontal executive function and relative preservation of memory; severe decrease of APP and Notch proteolysis.
up seq anno comments: In AD3; decreased protease activity with APP resulting in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio.
up seq anno comments: In AD3; decreased protease activity with APP; increased amyloid-beta 42/amyloid-beta 40 ratio.
up seq anno comments: In AD3; decreased protease activity with APP; increased amyloid-beta 42/amyloid-beta 40 ratio; impaired ability to cleave Ephb2/CTF1.
up seq anno comments: In AD3; decreased protease activity with APP; no effect on interaction with GFAP.
up seq anno comments: In AD3; decreased protease activity with APP; results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio.
up seq anno comments: In AD3; disease phenotype includes spastic paraparesis; abolishes protease activity with APP resulting in decreased amyloid-beta 42 and amyloid-beta 40 production.
up seq anno comments: In AD3; disease phenotype includes spastic paraparesis; unknown pathological significance; severe decrease of protease activity with APP; results in decreased amyloid-beta 42 and amyloid-beta 40 production.
up seq anno comments: In AD3; disease phenotype shows high clinical variability; founder mutation originating from Southern Italy and distributed worldwide; alters the conformation of the active site; slightly increased protease activity with APP; decreased activity for Notch1 cleavage; no loss of its ability to cleave Ephb2/CTF1.
up seq anno comments: In AD3; impaired ability to cleave Ephb2/CTF1; results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio; impaired regulation of neurite outgrowth.
up seq anno comments: In AD3; impaired protease activity with APP and increased amyloid-beta 42/amyloid-beta 40 ratio.
up seq anno comments: In AD3; impaired protease activity with APP; results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio.
up seq anno comments: In AD3; increased amyloid-beta 42/amyloid-beta 40 ratio.
up seq anno comments: In AD3; increases protease activity with APP resulting in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio.
up seq anno comments: In AD3; loss of function as calcium-leak channel; results in calcium overload in the endoplasmic reticulum.
up seq anno comments: In AD3; loss of protease activity with APP.
up seq anno comments: In AD3; nearly abolishes protease activity with APP; increased amyloid-beta 42/amyloid-beta 40 ratio.
up seq anno comments: In AD3; nearly abolishes protease activity with APP; increased amyloid-beta 42/amyloid-beta 40 ratio; impaired ability to cleave Ephb2/CTF1.
up seq anno comments: In AD3; nearly abolishes protease activity with APP; increased amyloid-beta 42/amyloid-beta 40 ratio; no loss of its ability to cleave Ephb2/CTF1.
up seq anno comments: In AD3; onset in adolescence; severe decrease of protease activity with APP; results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio; results in reduced Notch proteolysis.
up seq anno comments: In AD3; partially abolishes gamma-secretase activity; results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio.
up seq anno comments: In AD3; reduced APP cleavage resulting in decreased amyloid-beta 42 and amyloid-beta 40 production; no relevant change in amyloid-beta 42/amyloid-beta 40 ratio.
up seq anno comments: In AD3; results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio.
up seq anno comments: In AD3; results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio; impaired regulation of neurite outgrowth.
up seq anno comments: In AD3; results in reduced APP and Notch proteolysis.
up seq anno comments: In AD3; results in reduced APP and Notch proteolysis; results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio.
up seq anno comments: In AD3; severe decrease of protease activity with APP.
up seq anno comments: In AD3; slightly decreased protease activity with APP and slightly decreased amyloid-beta 42/amyloid-beta 40 ratio.
up seq anno comments: In AD3; slightly decreased protease activity with APP resulting in altered amyloid-beta production and mildly increased amyloid-beta 42/amyloid-beta 40 ratio.
up seq anno comments: In AD3; slightly increased protease activity with APP and slightly increased amyloid-beta 42 production.
up seq anno comments: In AD3; some AD3 patients manifest spastic paraparesis and unusual amyloid plaques with prominent amyloid angiopathy on brain biopsy; decreased protease activity with APP; increased amyloid-beta 42/amyloid-beta 40 ratio; impaired ability to cleave Ephb2/CTF1.
up seq anno comments: In AD3; strong deposition of amyloid-beta 42 is observed in brain regions of AD3 patients; decreased protease activity with APP resulting in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio; decreased activity for Notch1 cleavage.
up seq anno comments: In AD3; the patient also manifest spastic paraparesis and apraxia; loss of protease activity with APP in vitro; altered amyloid-beta production in cells transfected with the mutant and increased amyloid-beta 42/amyloid-beta 40 ratio.

9606:DPYSL5
gene id: 9606:DPYSL5
uniprot id: Q9BPU6
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: Secondary Structure
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: Strand
up seq anno labels: Turn
up seq anno comments: Dihydropyrimidinase-related protein 5
up seq anno comments: In RTSC4; reduced inhibition of dendrite development in transfected primary neurons; decreased interaction with MAP2; decreased interaction with TUBB3.
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000165924
up seq anno feature ids: VAR_086051
up seq anno feature ids: VAR_086052

9606:LIPH
gene id: 9606:LIPH
uniprot id: A2IBA6
uniprot id: Q8WWY8
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: 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: Glycosylation Site
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Charge relay system
up seq anno comments: In HYPT7 and ARWH2.
up seq anno comments: In HYPT7.
up seq anno comments: Lipase
up seq anno comments: Lipase member H
up seq anno comments: Loss of lipase activity.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Nucleophile
up seq anno feature ids: PRO_0000273321
up seq anno feature ids: PRO_5014565290
up seq anno feature ids: VAR_030125
up seq anno feature ids: VAR_059050

9606:TAF1A
gene id: 9606:TAF1A
uniprot id: Q15573
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: TATA box-binding protein-associated factor RNA polymerase I subunit A
up seq anno feature ids: PRO_0000227987
up seq anno feature ids: VAR_052253
up seq anno feature ids: VSP_017635

9606:SSC4D
gene id: 9606:SSC4D
uniprot id: Q8WTU2
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 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: SRCR 1
up seq anno comments: SRCR 2
up seq anno comments: SRCR 3
up seq anno comments: SRCR 4
up seq anno comments: Scavenger receptor cysteine-rich domain-containing group B protein
up seq anno feature ids: PRO_5000067535
up seq anno feature ids: VAR_052063
up seq anno feature ids: VSP_052695
up seq anno feature ids: VSP_052696

9606:MST1R
gene id: 9606:MST1R
uniprot id: B4E058
uniprot id: G9JXB8
uniprot id: Q04912
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: Secondary Structure
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: 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: Cytoplasmic
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: In NPCA3.
up seq anno comments: In NPCA3; unknown pathological significance.
up seq anno comments: In isoform Delta-RON.
up seq anno comments: In isoform RON-1.
up seq anno comments: In isoform RON-2 and isoform RON-4.
up seq anno comments: In isoform RON-2 and isoform RON-5.
up seq anno comments: In isoform RON-3.
up seq anno comments: Macrophage-stimulating protein receptor
up seq anno comments: Macrophage-stimulating protein receptor alpha chain
up seq anno comments: Macrophage-stimulating protein receptor beta chain
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphotyrosine; by autocatalysis
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Sema
up seq anno comments: receptor protein-tyrosine kinase
up seq anno feature ids: PRO_0000024452
up seq anno feature ids: PRO_0000024453
up seq anno feature ids: PRO_0000024454
up seq anno feature ids: PRO_5003522923
up seq anno feature ids: VAR_006350
up seq anno feature ids: VAR_024577
up seq anno feature ids: VAR_029238
up seq anno feature ids: VAR_029239
up seq anno feature ids: VAR_041768
up seq anno feature ids: VAR_041769
up seq anno feature ids: VAR_041770
up seq anno feature ids: VAR_041771
up seq anno feature ids: VAR_041772
up seq anno feature ids: VAR_041773
up seq anno feature ids: VAR_041774
up seq anno feature ids: VAR_041775
up seq anno feature ids: VAR_041776
up seq anno feature ids: VAR_041777
up seq anno feature ids: VAR_041778
up seq anno feature ids: VAR_061749
up seq anno feature ids: VAR_076928
up seq anno feature ids: VAR_076929
up seq anno feature ids: VAR_076930
up seq anno feature ids: VAR_076931
up seq anno feature ids: VSP_005007
up seq anno feature ids: VSP_038919
up seq anno feature ids: VSP_038920
up seq anno feature ids: VSP_038921
up seq anno feature ids: VSP_038922
up seq anno feature ids: VSP_038923
up seq anno feature ids: VSP_038924

9606:PPP1R15B
gene id: 9606:PPP1R15B
uniprot id: A0A8I5KSH1
up seq anno parent labels: Region
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: CReP_N
up seq anno comments: PP1c_bdg
up seq anno comments: Polar residues

9606:TPSD1
gene id: 9606:TPSD1
uniprot id: Q9BZJ3
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: 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: Glycosylation 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: Splice Variant
up seq anno comments: Activation peptide
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: Peptidase S1
up seq anno comments: Tryptase delta
up seq anno feature ids: PRO_0000027483
up seq anno feature ids: PRO_0000027484
up seq anno feature ids: VAR_016870
up seq anno feature ids: VAR_016871
up seq anno feature ids: VAR_016872
up seq anno feature ids: VSP_008319

9606:MATN2
gene id: 9606:MATN2
uniprot id: A0A140VKH7
uniprot id: O00339
uniprot id: Q8N2G3
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 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 labels: Splice Variant
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 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: EGF-like 9
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: Matrilin-2
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: VWFA
up seq anno comments: VWFA 1
up seq anno comments: VWFA 2
up seq anno feature ids: PRO_0000007655
up seq anno feature ids: PRO_5004312864
up seq anno feature ids: PRO_5007491759
up seq anno feature ids: VAR_021568
up seq anno feature ids: VAR_055753
up seq anno feature ids: VAR_055754
up seq anno feature ids: VAR_055755
up seq anno feature ids: VAR_055756
up seq anno feature ids: VAR_055757
up seq anno feature ids: VSP_001399
up seq anno feature ids: VSP_013284
up seq anno feature ids: VSP_014540

9606:ZNF780A
gene id: 9606:ZNF780A
uniprot id: O75290
uniprot id: Q05CQ7
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 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: 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 16
up seq anno comments: C2H2-type 17
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 780A
up seq anno feature ids: PRO_0000263690
up seq anno feature ids: VSP_037718
up seq anno feature ids: VSP_037719
up seq anno feature ids: VSP_037720
up seq anno feature ids: VSP_046465

9606:TIFAB
gene id: 9606:TIFAB
uniprot id: Q6ZNK6
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: FHA
up seq anno comments: TRAF-interacting protein with FHA domain-containing protein B
up seq anno feature ids: PRO_0000320692

9606:SPNS1
gene id: 9606:SPNS1
uniprot id: A0A024QZ93
uniprot id: Q9H2V7
up 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 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 Variant
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 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: MFS
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Protein spinster homolog 1
up seq anno comments: Removed
up seq anno feature ids: PRO_0000305039
up seq anno feature ids: VAR_035157
up seq anno feature ids: VSP_028194
up seq anno feature ids: VSP_028195
up seq anno feature ids: VSP_028196
up seq anno feature ids: VSP_036389

9606:WNT8A
gene id: 9606:WNT8A
uniprot id: D6RF47
uniprot id: Q9H1J5
up 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 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: 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: N-linked (GlcNAc...) asparagine
up seq anno comments: O-palmitoleoyl serine
up seq anno comments: Protein Wnt
up seq anno comments: Protein Wnt-8a
up seq anno feature ids: PRO_0000041448
up seq anno feature ids: PRO_5003087767
up seq anno feature ids: VSP_038706

9606:VCX
gene id: 9606:VCX
uniprot id: Q9H320
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: 1
up seq anno comments: 10
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: Basic residues
up seq anno comments: Polar residues
up seq anno comments: Variable charge X-linked protein 1
up seq anno feature ids: PRO_0000184659
up seq anno feature ids: VAR_070431
up seq anno feature ids: VAR_070432

9606:PIK3R1
gene id: 9606:PIK3R1
uniprot id: A0A2X0SFG1
uniprot id: P27986
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: 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: 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 labels: Strand
up seq anno labels: Turn
up seq anno comments: Does not affect insulin-stimulated lipid kinase activity.
up seq anno comments: In SHORTS; impairs interaction between PIK3R1 and IRS1 and reduces AKT1-mediated insulin signaling.
up seq anno comments: In SHORTS; there is 70 to 90% reduction in the effect of insulin on AKT1 activation, glycogen synthesis and glucose uptake, indicating severe insulin resistance for both proximal and distal PI3K-dependent signaling.
up seq anno comments: In a patient with severe insulin resistance; lower insulin-stimulated lipid kinase activity compared with wild-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-acetylserine
up seq anno comments: Phosphatidylinositol 3-kinase regulatory subunit alpha
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Pro residues
up seq anno comments: Removed
up seq anno comments: Rho-GAP
up seq anno comments: SH2
up seq anno comments: SH2 1
up seq anno comments: SH2 2
up seq anno comments: SH3
up seq anno feature ids: PRO_0000080758
up seq anno feature ids: VAR_010023
up seq anno feature ids: VAR_010024
up seq anno feature ids: VAR_029562
up seq anno feature ids: VAR_070221
up seq anno feature ids: VAR_070222
up seq anno feature ids: VAR_070223
up seq anno feature ids: VSP_021841
up seq anno feature ids: VSP_021842
up seq anno feature ids: VSP_021843
up seq anno feature ids: VSP_021844
up seq anno feature ids: VSP_021845
up seq anno feature ids: VSP_045903

9606:AFF3
gene id: 9606:AFF3
uniprot id: P51826
uniprot id: Q8NAP7
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: AF4/FMR2 family member 3
up seq anno comments: Basic and acidic residues
up seq anno comments: Found in a consanguineous family with intellectual disability; unknown pathological significance.
up seq anno comments: In KINS.
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000215916
up seq anno feature ids: VAR_030805
up seq anno feature ids: VAR_030806
up seq anno feature ids: VAR_080758
up seq anno feature ids: VAR_085675
up seq anno feature ids: VAR_085676
up seq anno feature ids: VAR_085677
up seq anno feature ids: VAR_085678
up seq anno feature ids: VAR_085679
up seq anno feature ids: VAR_085680
up seq anno feature ids: VSP_041120

9606:GRIN1
gene id: 9606:GRIN1
uniprot id: Q05586
uniprot id: Q59GW0
uniprot id: Q5VSF9
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: Secondary Structure
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: Helix
up seq anno labels: INTRAMEM
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 labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Discontinuously helical
up seq anno comments: Extracellular
up seq anno comments: Found in a patient with schizophrenia; unknown pathological significance.
up seq anno comments: Glutamate receptor
up seq anno comments: Glutamate receptor ionotropic, NMDA 1
up seq anno comments: Helical
up seq anno comments: In DEE101; loss of function in calcium ion transmembrane import into cytosol.
up seq anno comments: In NDHMSD.
up seq anno comments: In NDHMSD; changed localization to the cell membrane; decreased glutamate-gated calcium ion channel activity.
up seq anno comments: In NDHMSD; changed localization to the cell membrane; loss of glutamate-gated calcium ion channel activity.
up seq anno comments: In NDHMSD; decreased glutamate-gated calcium ion channel activity.
up seq anno comments: In NDHMSD; decreased localization to the plasma membrane of GRIN1/GRIN2B NMDA receptor complexes; changed glutamate-gated calcium ion channel activity; decreased activation by glutamate and glycine; decreased sensitivity to magnesium block; loss of function in calcium ion transmembrane import into cytosol.
up seq anno comments: In NDHMSD; loss of function in calcium ion transmembrane import into cytosol.
up seq anno comments: In NDHMSD; loss of glutamate-gated calcium ion channel activity.
up seq anno comments: In NDHMSD; no effect on glutamate-gated calcium ion channel activity.
up seq anno comments: In NDHMSD; there is near abolition of the activity of the NMDA receptor in Xenopus oocytes; alters the 3-dimensional structure at the receptor's channel pore entrance.
up seq anno comments: In NDHMSD; this mutation produces a significant increase in NMDA receptor-induced calcium currents; excessive calcium influx through NMDA receptor could lead to excitotoxic neuronal cell damage.
up seq anno comments: In NDHMSD; unknown pathological significance.
up seq anno comments: In NDHMSD; unknown pathological significance; no effect on glutamate-gated calcium ion channel activity.
up seq anno comments: In NDHMSR; changed glutamate-gated calcium ion channel activity; increased inhibition by zinc.
up seq anno comments: In NDHMSR; unknown pathological significance.
up seq anno comments: In isoform 1.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 4 and isoform 6.
up seq anno comments: In isoform 5, isoform 6 and isoform 7.
up seq anno comments: In isoform 7.
up seq anno comments: Lig_chan-Glu_bd
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: PBPe
up seq anno comments: Phosphoserine; by PKC
up seq anno comments: Slight decrease in glycine agonist potency; no effect on glutamate agonist potency.
up seq anno feature ids: PRO_0000011587
up seq anno feature ids: PRO_5027165308
up seq anno feature ids: VAR_049187
up seq anno feature ids: VAR_066597
up seq anno feature ids: VAR_066598
up seq anno feature ids: VAR_069057
up seq anno feature ids: VAR_079984
up seq anno feature ids: VAR_079985
up seq anno feature ids: VAR_079986
up seq anno feature ids: VAR_079987
up seq anno feature ids: VAR_079988
up seq anno feature ids: VAR_079989
up seq anno feature ids: VAR_079990
up seq anno feature ids: VAR_079991
up seq anno feature ids: VAR_079992
up seq anno feature ids: VAR_079993
up seq anno feature ids: VAR_079994

9606:EFEMP2
gene id: 9606:EFEMP2
uniprot id: A0A024R5G1
uniprot id: O95967
uniprot id: Q9H3D5
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: Secondary Structure
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: Strand
up seq anno comments: EGF-containing fibulin-like extracellular matrix protein 2
up seq anno comments: EGF-like
up seq anno comments: EGF-like 1; atypical
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: EGF-like 6; calcium-binding
up seq anno comments: In ARCL1B.
up seq anno comments: In ARCL1B; does not affect secretion; decreased elastic fiber assembly; loss of interaction with collagen type IV trimer, FBN1, highly glycosylated form of LOX and LTBP1; Does not affect interaction with LOX when LOX is non-glycosylated; proteolyzed by PLG.
up seq anno comments: In ARCL1B; increased N-glycosylation; introduced an extra O-glycosylation site; does not affect secretion; decreased elastic fiber assembly; decreased interaction with collagen type IV trimer, FBN1, ELN, LTBP1, LOXL1 and LOXL2; new fragments proteolyzed by ELANE.
up seq anno comments: In ARCL1B; loss of protein expression in patient dermal fibroblasts; increased transforming growth factor beta receptor signaling pathway in patient fibroblasts; loss of protein expression; strongly decreased secretion.
up seq anno comments: In ARCL1B; loss of secretion.
up seq anno comments: In ARCL1B; slightly decreased protein abundance in patient dermal fibroblasts; increased transforming growth factor beta receptor signaling pathway in patient fibroblasts; strongly decreased secretion; decreased elastic fiber assembly; loss of interaction with collagen type IV trimer, FBN1 and LTBP1; decreased interaction with LOXL2; new fragments proteolyzed by ELANE; new one fragment proteolyzed by MMP2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000007575
up seq anno feature ids: PRO_5004327935
up seq anno feature ids: PRO_5014214242
up seq anno feature ids: VAR_027019
up seq anno feature ids: VAR_027020
up seq anno feature ids: VAR_067069
up seq anno feature ids: VAR_067070
up seq anno feature ids: VAR_084029
up seq anno feature ids: VAR_084030
up seq anno feature ids: VAR_084031
up seq anno feature ids: VAR_084032
up seq anno feature ids: VAR_084033

9606:CLEC18A
gene id: 9606:CLEC18A
uniprot id: A5D8T8
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 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:PLCL1
gene id: 9606:PLCL1
uniprot id: Q15111
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 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: 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: In isoform 2.
up seq anno comments: Inactive phospholipase C-like protein 1
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: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by PKA
up seq anno feature ids: PRO_0000319414
up seq anno feature ids: VAR_038993
up seq anno feature ids: VAR_038994
up seq anno feature ids: VAR_038995
up seq anno feature ids: VAR_038996
up seq anno feature ids: VAR_038997
up seq anno feature ids: VAR_038998
up seq anno feature ids: VSP_031475

9606:FNDC9
gene id: 9606:FNDC9
uniprot id: Q8TBE3
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
up seq anno comments: Fibronectin type III domain-containing protein 9
up seq anno comments: Fibronectin type-III
up seq anno comments: Helical
up seq anno feature ids: PRO_0000299409
up seq anno feature ids: VAR_047138
up seq anno feature ids: VAR_047139
up seq anno feature ids: VAR_047140

9606:FAM24A
gene id: 9606:FAM24A
uniprot id: A6NFZ4
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno labels: Signal Peptide
up seq anno comments: Protein FAM24A
up seq anno feature ids: PRO_0000317244

9606:RTTN
gene id: 9606:RTTN
uniprot id: Q86VV8
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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 MSSP.
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: Polar residues
up seq anno comments: Rotatin
up seq anno feature ids: PRO_0000308612
up seq anno feature ids: VAR_036848
up seq anno feature ids: VAR_036849
up seq anno feature ids: VAR_036850
up seq anno feature ids: VAR_036851
up seq anno feature ids: VAR_069094
up seq anno feature ids: VAR_069095
up seq anno feature ids: VSP_029024
up seq anno feature ids: VSP_029025
up seq anno feature ids: VSP_029026
up seq anno feature ids: VSP_029027
up seq anno feature ids: VSP_029030
up seq anno feature ids: VSP_029031

9606:ATP6V1H
gene id: 9606:ATP6V1H
uniprot id: A0A024R7U9
uniprot id: A0A024R7X3
uniprot id: B3KUZ7
uniprot id: Q9UI12
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: Secondary Structure
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: Phosphoserine
up seq anno comments: V-ATPase_H_C
up seq anno comments: V-type proton ATPase subunit H
up seq anno feature ids: PRO_0000124193
up seq anno feature ids: VSP_012274

9606:HAS2
gene id: 9606:HAS2
uniprot id: Q92819
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 labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Abolishes hyaluronan synthase activity.
up seq anno comments: Completely abolishes hyaluronan synthase activity. Cumulates at plasma membrane.
up seq anno comments: Completely abolishes hyaluronan synthase activity. Not detected in cytoplasmic vesicles nor at cell membrane. Inability to travel from ER to Golgi. Unresponsive to AMPK-mediated inactivation.
up seq anno comments: Cytoplasmic
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: Hyaluronan synthase 2
up seq anno comments: Increases protein degradation. Abolishes hyaluronan synthase activity. Does not affect subcellular location.
up seq anno comments: O-linked (GlcNAc) serine
up seq anno comments: Phosphothreonine
up seq anno comments: Prevents O-GlcNAcylation. Increases protein stability. Reduces hyaluronan synthase activity.
up seq anno feature ids: PRO_0000197173

9606:RAN
gene id: 9606:RAN
uniprot id: P62826
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: Secondary Structure
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: 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: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes steric hindrance that traps the essential Q-69 in an unreactive position, and causes slow GTP hydrolysis in wild-type. Loss of one hydrogen bond with the gamma phosphate group of bound GTP.
up seq anno comments: Blocks DNA replication; when associated with L-69.
up seq anno comments: Decreased acetylation.
up seq anno comments: GTP-binding nuclear protein Ran
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: Has low binding affinity for GTP and GDP. Almost completely abolishes interaction with BIRC5.
up seq anno comments: Has low binding affinity for GTP and GDP. Decreases nuclear import of proteins and RNA. Stabilizes the interaction with RCC1. No effect on nuclear location during interphase. Loss of activity in triggering microtubule assembly at mitotic chromosomes.
up seq anno comments: Loss of normal mitotic chromosome segregation and defective mitotic spindle orientation.
up seq anno comments: Loss of normal mitotic chromosome segregation and formation of sister chromatid bridges.
up seq anno comments: Mimics acetylation; enhances the nuclear export of RELA/p65.
up seq anno comments: Minor effect on the interaction with the alpha phosphate group of bound GTP.
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: No effect on GTPase activity. Abolishes interaction with RANBP1.
up seq anno comments: Phosphothreonine
up seq anno comments: Probable loss of interaction with NUTF2. Loss of transport to the nucleus.
up seq anno comments: Removed
up seq anno comments: Strongly decreased GTPase activity. Probably locked in the GTP-bound form. Loss of interaction with NUTF2. Decreases nuclear location and leads to cytoplasmic location during interphase. Loss of function in importin-mediated protein nuclear import. High activity in triggering microtubule assembly at mitotic chromosomes. Blocks DNA replication; when associated with V-19.
up seq anno comments: Strongly decreases the relase of bound GDP.
up seq anno comments: Unable to hydrolyze GTP. Increases binding to BIRC5 and promotes exaggerated spindle formation.
up seq anno feature ids: PRO_0000208696

9606:S100A16
gene id: 9606:S100A16
uniprot id: Q96FQ6
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 labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: EF-hand 1; degenerate
up seq anno comments: EF-hand 2
up seq anno comments: Protein S100-A16
up seq anno feature ids: PRO_0000144023

9606:INKA1
gene id: 9606:INKA1
uniprot id: Q96EL1
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: Strand
up seq anno comments: PAK4-inhibitor INKA1
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000239717

9606:SMCO2
gene id: 9606:SMCO2
uniprot id: A6NFE2
up seq anno parent labels: Experimental Information
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: Sequence Conflict
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Helical
up seq anno comments: Single-pass membrane and coiled-coil domain-containing protein 2
up seq anno feature ids: PRO_0000340699

9606:NUP62CL
gene id: 9606:NUP62CL
uniprot id: A0A0S2Z5E8
uniprot id: Q9H1M0
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 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 comments: In isoform 2.
up seq anno comments: Nsp1_C
up seq anno comments: Nucleoporin-62 C-terminal-like protein
up seq anno feature ids: PRO_0000257834
up seq anno feature ids: VAR_028920
up seq anno feature ids: VAR_050569
up seq anno feature ids: VSP_021367
up seq anno feature ids: VSP_021368

9606:DKC1
gene id: 9606:DKC1
uniprot id: A0A8Q3SIY6
uniprot id: O60832
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: Secondary Structure
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: 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 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: DKCLD
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: 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
up seq anno feature ids: VAR_010083
up seq anno feature ids: VAR_010084
up seq anno feature ids: VAR_015674
up seq anno feature ids: VAR_015675
up seq anno feature ids: VAR_015676
up seq anno feature ids: VAR_022553
up seq anno feature ids: VAR_063821
up seq anno feature ids: VAR_063822
up seq anno feature ids: VAR_063823
up seq anno feature ids: VAR_063824
up seq anno feature ids: VAR_063825
up seq anno feature ids: VAR_080707
up seq anno feature ids: VSP_042422

9606:ARHGAP20
gene id: 9606:ARHGAP20
uniprot id: Q9P2F6
up 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 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: 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: 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: Polar residues
up seq anno comments: Ras-associating
up seq anno comments: Rho GTPase-activating protein 20
up seq anno comments: Rho-GAP
up seq anno feature ids: PRO_0000283086
up seq anno feature ids: VAR_031489
up seq anno feature ids: VAR_031490
up seq anno feature ids: VSP_024294
up seq anno feature ids: VSP_024295
up seq anno feature ids: VSP_024296

9606:ASCL5
gene id: 9606:ASCL5
uniprot id: M0R2M9
up seq anno parent labels: Region
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno comments: BHLH
up seq anno comments: Polar residues
up seq anno comments: Pro residues

9606:CLDN4
gene id: 9606:CLDN4
uniprot id: O14493
uniprot id: Q75L80
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 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: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Abolishes interaction with Clostridium perfringens CPE.
up seq anno comments: Claudin-4
up seq anno comments: Cytoplasmic
up seq anno comments: Decreases interaction with Clostridium perfringens CPE.
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Loss of phosphorylation by EPHA2.
up seq anno comments: No effect on interaction with Clostridium perfringens CPE.
up seq anno comments: Phosphotyrosine; by EPHA2
up seq anno comments: Strongly decreases interaction with Clostridium perfringens CPE.
up seq anno feature ids: PRO_0000144743

9606:PELI3
gene id: 9606:PELI3
uniprot id: A0A024R5B1
uniprot id: A0A024R5I2
uniprot id: Q8N2H9
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: E3 ubiquitin-protein ligase pellino 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: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000194176
up seq anno feature ids: VAR_061502
up seq anno feature ids: VSP_008639
up seq anno feature ids: VSP_008640
up seq anno feature ids: VSP_008641
up seq anno feature ids: VSP_008642

9606:LCN8
gene id: 9606:LCN8
uniprot id: A0A384MDK0
uniprot id: Q6JVE9
uniprot id: Q6ZT51
uniprot id: Q8NBE9
up 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 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: Transmembrane
up seq anno comments: Epididymal-specific lipocalin-8
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Lipocln_cytosolic_FA-bd_dom
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000017916
up seq anno feature ids: VSP_040219

9606:EVC2
gene id: 9606:EVC2
uniprot id: Q86UK5
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 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 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 EVC.
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: Limbin
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000084363
up seq anno feature ids: VAR_017209
up seq anno feature ids: VAR_017210
up seq anno feature ids: VAR_017211
up seq anno feature ids: VAR_035933
up seq anno feature ids: VAR_035934
up seq anno feature ids: VAR_051089
up seq anno feature ids: VSP_008848
up seq anno feature ids: VSP_008849

9606:PRTG
gene id: 9606:PRTG
uniprot id: Q2VWP7
up 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 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: 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: 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 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: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: Protogenin
up seq anno feature ids: PRO_0000317047
up seq anno feature ids: VAR_038467
up seq anno feature ids: VAR_049916
up seq anno feature ids: VAR_049917

9606:CYSRT1
gene id: 9606:CYSRT1
uniprot id: A8MQ03
uniprot id: B8A4K4
up seq anno parent labels: Experimental Information
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: Sequence Conflict
up seq anno comments: Cysteine-rich tail protein 1
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000332287

9606:PSMC6
gene id: 9606:PSMC6
uniprot id: A0A087X2I1
uniprot id: P62333
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: 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: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno comments: 26S proteasome regulatory subunit 10B
up seq anno comments: AAA
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000084732

9606:TAS2R16
gene id: 9606:TAS2R16
uniprot id: A0A8E5KFD5
uniprot id: Q9NYV7
up 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 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 susceptibility to alcoholism.
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: 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 16
up seq anno feature ids: PRO_0000082262
up seq anno feature ids: VAR_020205
up seq anno feature ids: VAR_034539
up seq anno feature ids: VAR_080835
up seq anno feature ids: VAR_080836
up seq anno feature ids: VAR_080837
up seq anno feature ids: VAR_080838
up seq anno feature ids: VAR_080839
up seq anno feature ids: VAR_080840
up seq anno feature ids: VAR_080841
up seq anno feature ids: VAR_080842
up seq anno feature ids: VAR_080843

9606:MMP26
gene id: 9606:MMP26
uniprot id: A0A8J8YUH5
uniprot id: Q9NRE1
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: 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: Motif
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: Cysteine switch
up seq anno comments: Matrix metalloproteinase-26
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: ZnMc
up seq anno comments: in inhibited form
up seq anno feature ids: PRO_0000028855
up seq anno feature ids: PRO_0000028856
up seq anno feature ids: VAR_033489
up seq anno feature ids: VAR_033490

9606:SUZ12
gene id: 9606:SUZ12
uniprot id: J3QQW9
uniprot id: Q15022
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: Secondary Structure
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: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type
up seq anno comments: Fails to form a PRC2.1 dimer.
up seq anno comments: Fails to form a PRC2.1 dimer. Reduced H3K27me3 enrichment on PRC2 target genes.
up seq anno comments: Fails to interact with JARID2; when associated with A-86.
up seq anno comments: Fails to interact with JARID2; when associated with A-90.
up seq anno comments: Fails to interact with PHF19. The PRC2.1 dimer forms but is unstable.
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: In IMMAS.
up seq anno comments: In IMMAS; decreased trimethylation of 'Lys-27' of histone H3; no effect on interaction with EZH2.
up seq anno comments: In IMMAS; unknown pathological significance.
up seq anno comments: No effect on interaction with PHF19. The PRC2.1 dimer forms but is unstable.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Polycomb protein SUZ12
up seq anno comments: VEFS-Box
up seq anno feature ids: PRO_0000047057
up seq anno feature ids: VAR_028100
up seq anno feature ids: VAR_078318
up seq anno feature ids: VAR_083817
up seq anno feature ids: VAR_083818
up seq anno feature ids: VAR_083819
up seq anno feature ids: VAR_083820

9606:MPDZ
gene id: 9606:MPDZ
uniprot id: O75970
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: Secondary Structure
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: 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 HYC2.
up seq anno comments: In HYC2; unknown pathological significance.
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: L27
up seq anno comments: Loss of interaction with CAMK2A.
up seq anno comments: Multiple PDZ domain protein
up seq anno comments: Omega-N-methylarginine
up seq anno comments: PDZ 1
up seq anno comments: PDZ 10
up seq anno comments: PDZ 11
up seq anno comments: PDZ 12
up seq anno comments: PDZ 13
up seq anno comments: PDZ 2
up seq anno comments: PDZ 3
up seq anno comments: PDZ 4
up seq anno comments: PDZ 5
up seq anno comments: PDZ 6
up seq anno comments: PDZ 7
up seq anno comments: PDZ 8
up seq anno comments: PDZ 9
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000094594
up seq anno feature ids: VAR_056115
up seq anno feature ids: VAR_056116
up seq anno feature ids: VAR_056117
up seq anno feature ids: VAR_056118
up seq anno feature ids: VAR_056119
up seq anno feature ids: VAR_056120
up seq anno feature ids: VAR_081122
up seq anno feature ids: VAR_081123
up seq anno feature ids: VAR_081124
up seq anno feature ids: VAR_081125
up seq anno feature ids: VSP_040450
up seq anno feature ids: VSP_040451

9606:C20orf203
gene id: 9606:C20orf203
uniprot id: Q8NBC4
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno comments: Uncharacterized protein C20orf203
up seq anno feature ids: PRO_0000394501

9606:ALDOC
gene id: 9606:ALDOC
uniprot id: P09972
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: Secondary Structure
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: 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: Fructose-bisphosphate aldolase C
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Proton acceptor
up seq anno comments: Schiff-base intermediate with dihydroxyacetone-P
up seq anno feature ids: PRO_0000216947

9606:GCHFR
gene id: 9606:GCHFR
uniprot id: P30047
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: 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:HIGD1C
gene id: 9606:HIGD1C
uniprot id: A8MV81
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: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: HIG1
up seq anno comments: HIG1 domain family member 1C
up seq anno comments: Helical
up seq anno feature ids: PRO_0000342673

9606:CREB3L2
gene id: 9606:CREB3L2
uniprot id: Q70SY1
up 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 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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cyclic AMP-responsive element-binding protein 3-like protein 2
up seq anno comments: Cytoplasmic
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: 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:VAMP5
gene id: 9606:VAMP5
uniprot id: O95183
uniprot id: Q6FG93
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 labels: Chain
up seq anno labels: Domain Extent
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: Helical; Anchor for type IV membrane protein
up seq anno comments: Phosphoserine
up seq anno comments: V-SNARE coiled-coil homology
up seq anno comments: Vesicle-associated membrane protein 5
up seq anno comments: Vesicular
up seq anno comments: v-SNARE coiled-coil homology
up seq anno feature ids: PRO_0000206733

9606:EPS8L2
gene id: 9606:EPS8L2
uniprot id: Q9H6S3
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: Secondary Structure
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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Epidermal growth factor receptor kinase substrate 8-like protein 2
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
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: SH3
up seq anno feature ids: PRO_0000239084
up seq anno feature ids: VSP_019092
up seq anno feature ids: VSP_054144

9606:PDLIM4
gene id: 9606:PDLIM4
uniprot id: A0A0S2Z4N4
uniprot id: P50479
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: Secondary Structure
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: 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: LIM zinc-binding
up seq anno comments: PDZ
up seq anno comments: PDZ and LIM domain protein 4
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000075873
up seq anno feature ids: VAR_035205
up seq anno feature ids: VAR_035206
up seq anno feature ids: VAR_035207
up seq anno feature ids: VAR_050167
up seq anno feature ids: VSP_003124

9606:NUBP1
gene id: 9606:NUBP1
uniprot id: P53384
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: 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 labels: Splice Variant
up seq anno comments: Cytosolic Fe-S cluster assembly factor NUBP1
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000184943
up seq anno feature ids: VAR_020359
up seq anno feature ids: VSP_029043

9606:HSPA2
gene id: 9606:HSPA2
uniprot id: P54652
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: Secondary Structure
up seq anno parent labels: 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: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes methylation by METTL21A.
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: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000078258
up seq anno feature ids: VAR_032706
up seq anno feature ids: VAR_032707

9606:CYTL1
gene id: 9606:CYTL1
uniprot id: Q9NRR1
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Cytokine-like protein 1
up seq anno feature ids: PRO_0000020838
up seq anno feature ids: VAR_050940
up seq anno feature ids: VAR_050941

9606:USP17L2
gene id: 9606:USP17L2
uniprot id: Q6R6M4
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: 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: 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: 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:KLK15
gene id: 9606:KLK15
uniprot id: A0A6B7HBY5
uniprot id: M0R0D7
uniprot id: Q6UBM2
uniprot id: Q9H2R5
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: 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: Glycosylation 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: Splice Variant
up seq anno comments: Activation peptide
up seq anno comments: Charge relay system
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: Kallikrein-15
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Peptidase S1
up seq anno feature ids: PRO_0000027960
up seq anno feature ids: PRO_0000027961
up seq anno feature ids: PRO_5010142576
up seq anno feature ids: PRO_5012994573
up seq anno feature ids: PRO_5033879268
up seq anno feature ids: VAR_020179
up seq anno feature ids: VAR_036298
up seq anno feature ids: VSP_005404
up seq anno feature ids: VSP_005405
up seq anno feature ids: VSP_005406
up seq anno feature ids: VSP_005407
up seq anno feature ids: VSP_054621

9606:TMEM223
gene id: 9606:TMEM223
uniprot id: A0PJW6
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 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: Helical
up seq anno comments: Mitochondrial intermembrane
up seq anno comments: Mitochondrial matrix
up seq anno comments: Transmembrane protein 223
up seq anno feature ids: PRO_0000321833
up seq anno feature ids: VAR_039357
up seq anno feature ids: VAR_039358

9606:RIMKLB
gene id: 9606:RIMKLB
uniprot id: Q9ULI2
up 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 labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Splice Variant
up seq anno comments: ATP-grasp
up seq anno comments: Beta-citrylglutamate synthase B
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:SPIN1
gene id: 9606:SPIN1
uniprot id: Q9Y657
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: Secondary Structure
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: 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 binding to histone H3K4me3 and H3R8me2a and impaired ability to activate the Wnt signaling pathway.
up seq anno comments: Impaired binding to histone H3K4me3 and H3R8me2a and impaired ability to activate the Wnt signaling pathway. Impaired ability to activate expression of pre-rRNA.
up seq anno comments: Impaired binding to histone H3K4me3 and H3R8me2a.
up seq anno comments: Impaired binding to histone H3K4me3.
up seq anno comments: Impaired phosphorylation.
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by AURKA
up seq anno comments: Spindlin-1
up seq anno feature ids: PRO_0000181367
up seq anno feature ids: VAR_053690

9606:MRPS33
gene id: 9606:MRPS33
uniprot id: A4D1T3
uniprot id: Q3KRB4
uniprot id: Q9Y291
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 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: Non-terminal Residue
up seq anno comments: 28S ribosomal protein S33, mitochondrial
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: N-acetylserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000087727

9606:STN1
gene id: 9606:STN1
uniprot id: Q9H668
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 labels: Chain
up seq anno labels: DNA Binding
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: Turn
up seq anno comments: CST complex subunit STN1
up seq anno comments: Defective of TEN1 binding; when associated with Ala-164 or Ala-167.
up seq anno comments: Defective of TEN1 binding; when associated with Ala-78.
up seq anno comments: In CRMCC2.
up seq anno comments: OB
up seq anno feature ids: PRO_0000058020
up seq anno feature ids: VAR_022364
up seq anno feature ids: VAR_022365
up seq anno feature ids: VAR_078499
up seq anno feature ids: VAR_078500

9606:E2F1
gene id: 9606:E2F1
uniprot id: Q01094
uniprot id: Q9BSD8
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: Secondary Structure
up seq anno labels: Chain
up seq anno labels: DNA Binding
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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes acetylation; when associated with R-117 and R-120.
up seq anno comments: Abolishes acetylation; when associated with R-117 and R-125.
up seq anno comments: Abolishes acetylation; when associated with R-120 and R-125.
up seq anno comments: Abolishes interaction with and repression of CEBPA and inhibition of adipogenesis.
up seq anno comments: Abrogates in vitro phosphorylation by CHEK2 and CHEK2-dependent stabilization of E2F1 upon DNA damage.
up seq anno comments: DEF box
up seq anno comments: Decreased phosphorylation by GSK3B, leading to abolished interaction with USP11 and subsequent deubiquitination.
up seq anno comments: Decreased phosphorylation by GSK3B.
up seq anno comments: N6-acetyllysine
up seq anno comments: No retinoblastoma protein binding. No effect on interaction with and repression of CEBPA.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CHEK2
up seq anno comments: Phosphoserine; by GSK3-beta
up seq anno comments: Phosphothreonine; by GSK3-beta
up seq anno comments: Transcription factor E2F1
up seq anno feature ids: PRO_0000219461
up seq anno feature ids: VAR_013607
up seq anno feature ids: VAR_013608
up seq anno feature ids: VAR_013609
up seq anno feature ids: VAR_013610
up seq anno feature ids: VAR_048907

9606:ATP8A2
gene id: 9606:ATP8A2
uniprot id: A0A804HI09
uniprot id: A0A804HKW9
uniprot id: B7Z880
uniprot id: Q6ZU25
uniprot id: Q9NTI2
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: 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: 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: 4-aspartylphosphate intermediate
up seq anno comments: Abolishes ATPase activity.
up seq anno comments: Cytoplasmic
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: No effect on flippase activity toward phosphatidylserine. Like the wild type, it is unable to translocate phosphatidylcholine.
up seq anno comments: PhoLip_ATPase_C
up seq anno comments: PhoLip_ATPase_N
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:MYZAP
gene id: 9606:MYZAP
uniprot id: A0A024R5W4
uniprot id: P0CAP1
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 labels: Chain
up seq anno labels: Coiled-Coil
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: Splice Variant
up seq anno labels: Strand
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: 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:IRAK1BP1
gene id: 9606:IRAK1BP1
uniprot id: Q5VVH5
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno comments: Interleukin-1 receptor-associated kinase 1-binding protein 1
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000313733

9606:C1orf68
gene id: 9606:C1orf68
uniprot id: Q5T750
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Skin-specific protein 32
up seq anno feature ids: PRO_0000307808
up seq anno feature ids: VAR_059739
up seq anno feature ids: VAR_059740
up seq anno feature ids: VAR_061726

9606:FOXP3
gene id: 9606:FOXP3
uniprot id: Q9BZS1
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: Secondary Structure
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: 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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type
up seq anno comments: Decrease in nuclear export; when associated with A-242 and A-246.
up seq anno comments: Decrease in nuclear export; when associated with A-242 and A-248.
up seq anno comments: Decrease in nuclear export; when associated with A-246 and A-248.
up seq anno comments: Decrease in nuclear export; when associated with A-69, A-71 and A-74.
up seq anno comments: Decrease in nuclear export; when associated with A-69, A-71 and A-76.
up seq anno comments: Decrease in nuclear export; when associated with A-69, A-74 and A-76.
up seq anno comments: Decrease in nuclear export; when associated with A-71, A-74 and A-76.
up seq anno comments: Decrease in phosphorylation, significant decrease in transcriptional repressor activity and reduced interaction with PP1CA, PP1CB and PP1CG. Significant decrease in phosphorylation and transcriptional repressor activity; when associated with A-422.
up seq anno comments: Disrupts dimerization but does not affect DNA-binding; when associated with Q-348. Disrupts dimerization, does not affect DNA-binding, causes dysregulated expression of a subset of FOXP3 target genes and impairs its ability to confer inhibitory function to regulatory T-cells; when associated with Q-348 and P-372.
up seq anno comments: Disrupts dimerization, does not affect DNA-binding, causes dysregulated expression of a subset of FOXP3 target genes and impairs its ability to confer inhibitory function to regulatory T-cells; when associated with Q-348 and T-370.
up seq anno comments: Fork-head
up seq anno comments: Forkhead box protein P3
up seq anno comments: Forkhead box protein P3 41 kDa form
up seq anno comments: Forkhead box protein P3, C-terminally processed
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 IPEX.
up seq anno comments: In IPEX; mild phenotype; no loss of protein expression.
up seq anno comments: In IPEX; mild phenotype; no loss of protein expression; impairs its ability to confer inhibitory function to regulatory T-cells; no loss of DNA-binding when associated with A-373.
up seq anno comments: In IPEX; no effect on dimerization.
up seq anno comments: In IPEX; no loss of protein expression.
up seq anno comments: In IPEX; requires 2 nucleotide substitutions; no loss of protein expression; disrupts dimerization; impairs its ability to confer inhibitory function to regulatory T-cells; no loss of DNA-binding when associated with H-347.
up seq anno comments: In IPEX; significantly reduces dimerization.
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: LXXLL motif
up seq anno comments: Loss of interaction with RORA.
up seq anno comments: Loss of nuclear localization.
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: No loss of DNA-binding. Disrupts dimerization but does not affect DNA-binding; when associated with T-370. Disrupts dimerization, does not affect DNA-binding, causes dysregulated expression of a subset of FOXP3 target genes and impairs its ability to confer inhibitory function to regulatory T-cells; when associated with T-370 and P-372.
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 CDK2
up seq anno comments: Polar residues
up seq anno comments: Significant decrease in phosphorylation and transcriptional repressor activity; when associated with A-418.
up seq anno comments: Slight increase in transcriptional repressor activity.
up seq anno feature ids: PRO_0000091886
up seq anno feature ids: PRO_0000432430
up seq anno feature ids: PRO_0000432431
up seq anno feature ids: PRO_0000432432
up seq anno feature ids: VAR_011330
up seq anno feature ids: VAR_011331
up seq anno feature ids: VAR_011332
up seq anno feature ids: VAR_011333
up seq anno feature ids: VAR_023569
up seq anno feature ids: VAR_078971
up seq anno feature ids: VAR_078972
up seq anno feature ids: VAR_078973
up seq anno feature ids: VAR_078974
up seq anno feature ids: VAR_078975
up seq anno feature ids: VAR_078976
up seq anno feature ids: VSP_015796
up seq anno feature ids: VSP_036418

9606:SERPINF1
gene id: 9606:SERPINF1
uniprot id: A0A140VKF3
uniprot id: P36955
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: Secondary Structure
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: 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: Confirmed at protein level.
up seq anno comments: N-linked (GlcNAc...) (complex) asparagine
up seq anno comments: Phosphoserine; by CK2
up seq anno comments: Phosphoserine; by PKA
up seq anno comments: Pigment epithelium-derived factor
up seq anno comments: Pyrrolidone carboxylic acid
up seq anno comments: SERPIN
up seq anno feature ids: PRO_0000032508
up seq anno feature ids: PRO_5007491844
up seq anno feature ids: VAR_009126
up seq anno feature ids: VAR_025500

9606:OR4C15
gene id: 9606:OR4C15
uniprot id: A0A2C9F2M4
uniprot id: Q8NGM1
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: 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_RECEP_F1_2
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 4C15
up seq anno feature ids: PRO_0000150535

9606:RALA
gene id: 9606:RALA
uniprot id: P11233
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: Secondary Structure
up seq anno parent labels: 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: 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: Sequence 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 monoglucosylation by P.sordellii toxin TcsL.
up seq anno comments: Converts geranyl-geranylation to farnesylation. No effect on membrane localization. Fails to deflect GGTI-induced apoptosis of adherent cell cultures, but rescues anchorage-independent cell proliferation.
up seq anno comments: Cysteine methyl ester
up seq anno comments: Decreased localization to mitochondrion. Loss of function in mitochondrial fission.
up seq anno comments: Effector region
up seq anno comments: Impaired cytokinesis, as shown by increased number of binucleate cells. Impaired cytokinesis; when associated with L-72.
up seq anno comments: Impaired cytokinesis, as shown by increased number of binucleate cells. Impaired cytokinesis; when associated with N-49 or 1-M--S-11. No effect on cytokinesis; when associated with E-49.
up seq anno comments: Impaired cytokinesis, as shown by increased number of binucleate cells. No effect on cytokinesis; when associated with V-23. Decreased interaction with EXOC2 and EXOC8; when associated with V-23.
up seq anno comments: Impaired cytokinesis, as shown by increased number of binucleate cells. No effect on interaction with EXOC2 and EXOC8. No effect on cytokinesis; when associated with R-38 or W-48. Decreased interaction with EXOC2 and EXOC8; when associated with R-38 or W-48.
up seq anno comments: In HINCONS.
up seq anno comments: In HINCONS; decreased GTPase activity; decreased RALA effector binding.
up seq anno comments: In HINCONS; decreased GTPase activity; increased RALA effector binding.
up seq anno comments: In HINCONS; unknown pathological significance.
up seq anno comments: Increased localization to mitochondrion.
up seq anno comments: Loss of geranylgeranylation and membrane localization.
up seq anno comments: No effect on cytokinesis. Impaired cytokinesis, as shown by increased number of binucleate cells; when associated with L-72.
up seq anno comments: No effect on cytokinesis; when associated with L-72.
up seq anno comments: No effect on interaction with EXOC8.
up seq anno comments: Phosphoserine; by AURKA
up seq anno comments: Ras-related protein Ral-A
up seq anno comments: Removed in mature form
up seq anno comments: S-geranylgeranyl cysteine
up seq anno comments: Strongly reduces interaction with EXOC8.
up seq anno feature ids: PRO_0000082693
up seq anno feature ids: PRO_0000281344
up seq anno feature ids: VAR_085759
up seq anno feature ids: VAR_085760
up seq anno feature ids: VAR_085761
up seq anno feature ids: VAR_085762
up seq anno feature ids: VAR_085763
up seq anno feature ids: VAR_085764
up seq anno feature ids: VAR_085765

9606:ADGRF2
gene id: 9606:ADGRF2
uniprot id: Q8IZF7
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 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: Adhesion G-protein coupled receptor F2
up seq anno comments: Cytoplasmic
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: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000070334
up seq anno feature ids: VAR_024473
up seq anno feature ids: VAR_024474
up seq anno feature ids: VSP_040379
up seq anno feature ids: VSP_040380
up seq anno feature ids: VSP_040381

9606:CACNB1
gene id: 9606:CACNB1
uniprot id: Q02641
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: Secondary Structure
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: 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 a colorectal 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: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: SH3
up seq anno comments: Voltage-dependent L-type calcium channel subunit beta-1
up seq anno feature ids: PRO_0000144046
up seq anno feature ids: VAR_036349
up seq anno feature ids: VSP_000623
up seq anno feature ids: VSP_000624
up seq anno feature ids: VSP_000625

9606:ITGA8
gene id: 9606:ITGA8
uniprot id: B4DN28
uniprot id: P53708
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: 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: 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: Cell attachment site
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 RHDA1; the mutant does not localize at the cell membrane.
up seq anno comments: In RHDA1; unknown pathological significance.
up seq anno comments: Integrin alpha-8
up seq anno comments: Integrin alpha-8 heavy chain
up seq anno comments: Integrin alpha-8 light chain
up seq anno comments: Integrin_alpha2
up seq anno comments: Interchain (between heavy and light chains)
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000016310
up seq anno feature ids: PRO_0000016311
up seq anno feature ids: PRO_0000016312
up seq anno feature ids: PRO_5002803433
up seq anno feature ids: VAR_018673
up seq anno feature ids: VAR_018674
up seq anno feature ids: VAR_018675
up seq anno feature ids: VAR_018676
up seq anno feature ids: VAR_018677
up seq anno feature ids: VAR_018678
up seq anno feature ids: VAR_034682
up seq anno feature ids: VAR_071106
up seq anno feature ids: VAR_071107

9606:ARFRP1
gene id: 9606:ARFRP1
uniprot id: Q13795
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: ADP-ribosylation factor-related 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: In isoform 4.
up seq anno comments: N-acetylmethionine
up seq anno feature ids: PRO_0000207487
up seq anno feature ids: VAR_036559
up seq anno feature ids: VSP_043531
up seq anno feature ids: VSP_057570
up seq anno feature ids: VSP_057571
up seq anno feature ids: VSP_057572

9606:SFTPB
gene id: 9606:SFTPB
uniprot id: D6W5L6
uniprot id: P07988
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: Secondary Structure
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: Strand
up seq anno comments: In SMDP1.
up seq anno comments: Interchain
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Pulmonary surfactant-associated protein B
up seq anno comments: Requires 2 nucleotide substitutions.
up seq anno comments: Saposin A-type
up seq anno comments: Saposin B-type
up seq anno comments: Saposin B-type 1
up seq anno comments: Saposin B-type 2
up seq anno comments: Saposin B-type 3
up seq anno feature ids: PRO_0000031647
up seq anno feature ids: PRO_0000031648
up seq anno feature ids: PRO_0000031649
up seq anno feature ids: PRO_5014088025
up seq anno feature ids: VAR_006948
up seq anno feature ids: VAR_006949
up seq anno feature ids: VAR_006950
up seq anno feature ids: VAR_013099
up seq anno feature ids: VAR_013100
up seq anno feature ids: VAR_036856

9606:SYPL1
gene id: 9606:SYPL1
uniprot id: A4D0R1
uniprot id: Q16563
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 labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Initiator Methionine
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: Helical
up seq anno comments: In isoform 2.
up seq anno comments: MARVEL
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Removed
up seq anno comments: Synaptophysin-like protein 1
up seq anno comments: Vesicular
up seq anno feature ids: PRO_0000179164
up seq anno feature ids: VSP_008557

9606:ZNF619
gene id: 9606:ZNF619
uniprot id: Q17RW3
uniprot id: Q8N2I2
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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
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: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Zinc finger protein 619
up seq anno feature ids: PRO_0000234601
up seq anno feature ids: VSP_043080
up seq anno feature ids: VSP_055715
up seq anno feature ids: VSP_055716

9606:CCL15
gene id: 9606:CCL15
uniprot id: A0A0B4J2E2
uniprot id: Q16663
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: Secondary Structure
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: Signal Peptide
up seq anno labels: Strand
up seq anno comments: C-C motif chemokine
up seq anno comments: C-C motif chemokine 15
up seq anno comments: CCL15(22-92)
up seq anno comments: CCL15(25-92)
up seq anno comments: CCL15(29-92)
up seq anno comments: SCY
up seq anno feature ids: PRO_0000005208
up seq anno feature ids: PRO_0000041868
up seq anno feature ids: PRO_0000041869
up seq anno feature ids: PRO_0000041870
up seq anno feature ids: PRO_5013980090
up seq anno feature ids: VAR_011640

9606:PLEKHG3
gene id: 9606:PLEKHG3
uniprot id: A0A2X0SFH4
uniprot id: A1L390
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 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: 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: DH
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: PH
up seq anno comments: Phosphoserine
up seq anno comments: Pleckstrin homology domain-containing family G member 3
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000306863
up seq anno feature ids: VAR_035330
up seq anno feature ids: VAR_061518
up seq anno feature ids: VSP_028533
up seq anno feature ids: VSP_028534
up seq anno feature ids: VSP_041513

9606:LRRC43
gene id: 9606:LRRC43
uniprot id: Q8N309
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: 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: In isoform 2 and isoform 3.
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: LRRCT
up seq anno comments: Leucine-rich repeat-containing protein 43
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000311908
up seq anno feature ids: VAR_037338
up seq anno feature ids: VAR_082884
up seq anno feature ids: VSP_029636
up seq anno feature ids: VSP_029637

9606:PGA5
gene id: 9606:PGA5
uniprot id: P0DJD9
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: 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:TNFRSF1A
gene id: 9606:TNFRSF1A
uniprot id: J9PH39
uniprot id: P19438
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: Secondary Structure
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: 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 comments: (Microbial infection) N-beta-linked (GlcNAc) arginine
up seq anno comments: Abolished GlcNAcylation by E.coli NleB1.
up seq anno comments: Cytoplasmic
up seq anno comments: Death
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In FPF.
up seq anno comments: In FPF; benign variant.
up seq anno comments: In FPF; 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: N-linked (GlcNAc...) asparagine
up seq anno comments: TNFR-Cys
up seq anno comments: TNFR-Cys 1
up seq anno comments: TNFR-Cys 2
up seq anno comments: TNFR-Cys 3
up seq anno comments: TNFR-Cys 4
up seq anno comments: Tumor necrosis factor receptor superfamily member 1A, membrane form
up seq anno comments: Tumor necrosis factor-binding protein 1
up seq anno feature ids: PRO_0000034543
up seq anno feature ids: PRO_0000034544
up seq anno feature ids: VAR_011813
up seq anno feature ids: VAR_013410
up seq anno feature ids: VAR_013411
up seq anno feature ids: VAR_013412
up seq anno feature ids: VAR_013413
up seq anno feature ids: VAR_013414
up seq anno feature ids: VAR_013415
up seq anno feature ids: VAR_019302
up seq anno feature ids: VAR_019303
up seq anno feature ids: VAR_019304
up seq anno feature ids: VAR_019305
up seq anno feature ids: VAR_019329
up seq anno feature ids: VAR_019330
up seq anno feature ids: VAR_019331
up seq anno feature ids: VAR_019332
up seq anno feature ids: VSP_037153
up seq anno feature ids: VSP_037154
up seq anno feature ids: VSP_044949
up seq anno feature ids: VSP_047613
up seq anno feature ids: VSP_047614

9606:TRAPPC6A
gene id: 9606:TRAPPC6A
uniprot id: O75865
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: Secondary Structure
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: 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: Phosphoserine
up seq anno comments: Trafficking protein particle complex subunit 6A
up seq anno feature ids: PRO_0000244539
up seq anno feature ids: VSP_019585
up seq anno feature ids: VSP_047016
up seq anno feature ids: VSP_047017

9606:PGBD2
gene id: 9606:PGBD2
uniprot id: A0A024R0S7
uniprot id: Q6P3X8
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Splice Variant
up seq anno comments: DDE_Tnp_1_7
up seq anno comments: In isoform 2.
up seq anno comments: PiggyBac transposable element-derived protein 2
up seq anno feature ids: PRO_0000288053
up seq anno feature ids: VSP_025631

9606:FCGR2B
gene id: 9606:FCGR2B
uniprot id: P31994
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: Secondary Structure
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 comments: Associated with susceptibility to SLE; associated with resistance to malaria; found at an increased frequency in African and Asian populations from areas where malaria is endemic; enhances phagocytosis of Plasmodium falciparum-infected erythrocytes in vitro.
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
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: In isoform 4 and isoform 5.
up seq anno comments: In isoform IIB2 and isoform 5.
up seq anno comments: In isoform IIB3.
up seq anno comments: Low affinity immunoglobulin gamma Fc region receptor II-b
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphotyrosine; by SRC-type Tyr-kinases
up seq anno feature ids: PRO_0000015147
up seq anno feature ids: VAR_008798
up seq anno feature ids: VAR_015515
up seq anno feature ids: VAR_027045
up seq anno feature ids: VAR_059430
up seq anno feature ids: VSP_002642
up seq anno feature ids: VSP_002643
up seq anno feature ids: VSP_058635

9606:VAX2
gene id: 9606:VAX2
uniprot id: F1T0K5
uniprot id: Q9UIW0
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Domain Extent
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Homeobox
up seq anno comments: Polar residues
up seq anno comments: Ventral anterior homeobox 2
up seq anno feature ids: PRO_0000049351
up seq anno feature ids: VAR_020152
up seq anno feature ids: VAR_067308

9606:OTOS
gene id: 9606:OTOS
uniprot id: Q8NHW6
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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:DISP3
gene id: 9606:DISP3
uniprot id: Q9P2K9
up 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 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: 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-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: Protein dispatched homolog 3
up seq anno comments: SSD
up seq anno feature ids: PRO_0000308329
up seq anno feature ids: VAR_036796
up seq anno feature ids: VAR_036797
up seq anno feature ids: VAR_036798
up seq anno feature ids: VAR_036799
up seq anno feature ids: VAR_036800
up seq anno feature ids: VAR_061496
up seq anno feature ids: VSP_028966

9606:RAB11FIP2
gene id: 9606:RAB11FIP2
uniprot id: Q7L804
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: Secondary Structure
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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Abolishes phosphorylation by MARK2 and induces defects in the reestablishment of junctional complexes.
up seq anno comments: Abolishes the interaction with RAB11A and the vesicular localization.
up seq anno comments: Abolishes the interaction with REPS1 and AP2A1. Modifies its subcellular location and the endocytosis activity. Enhances homooligomerization.
up seq anno comments: Basic and acidic residues
up seq anno comments: C2
up seq anno comments: FIP-RBD
up seq anno comments: In isoform 2.
up seq anno comments: NPF 1
up seq anno comments: NPF 2
up seq anno comments: NPF 3
up seq anno comments: No effect on the interaction with RAB11A. Abolishes the vesicular localization.
up seq anno comments: No effect.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by MARK2
up seq anno comments: Polar residues
up seq anno comments: Rab11 family-interacting protein 2
up seq anno comments: Severe reduction of the interaction with REPS1 and AP2A1. No effects on its subcellular location. Modifies the endocytosis activity.
up seq anno feature ids: PRO_0000097306
up seq anno feature ids: VAR_051316
up seq anno feature ids: VSP_056649

9606:RPL26L1
gene id: 9606:RPL26L1
uniprot id: Q9UNX3
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno comments: 60S ribosomal protein L26-like 1
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno feature ids: PRO_0000130791

9606:IFI44L
gene id: 9606:IFI44L
uniprot id: Q53G44
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 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: Interferon-induced protein 44-like
up seq anno comments: TLDc
up seq anno feature ids: PRO_0000337845
up seq anno feature ids: VAR_043726
up seq anno feature ids: VAR_054648
up seq anno feature ids: VAR_054649
up seq anno feature ids: VAR_054650
up seq anno feature ids: VAR_054651
up seq anno feature ids: VAR_054652
up seq anno feature ids: VAR_054653
up seq anno feature ids: VSP_036554
up seq anno feature ids: VSP_036555

9606:MYL1
gene id: 9606:MYL1
uniprot id: P05976
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice 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: In MYOFTA; no protein detected by western blot in patient muscle.
up seq anno comments: In isoform MLC3.
up seq anno comments: Myosin light chain 1/3, skeletal muscle isoform
up seq anno comments: N,N,N-trimethylalanine
up seq anno comments: N-acetylalanine
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_0000198681
up seq anno feature ids: VAR_082312
up seq anno feature ids: VSP_038686

9606:N4BP3
gene id: 9606:N4BP3
uniprot id: O15049
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 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: Sequence Conflict
up seq anno comments: Basic and acidic residues
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:IL17RC
gene id: 9606:IL17RC
uniprot id: Q8NAC3
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: Secondary Structure
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: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2, isoform 3, isoform 4, isoform 5, isoform 6, isoform 7 and isoform 8.
up seq anno comments: In isoform 3, isoform 4, isoform 6 and isoform 8.
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 and isoform 7.
up seq anno comments: Interleukin-17 receptor C
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: SEFIR
up seq anno feature ids: PRO_0000011034
up seq anno feature ids: VAR_022680
up seq anno feature ids: VSP_014138
up seq anno feature ids: VSP_014139
up seq anno feature ids: VSP_014140
up seq anno feature ids: VSP_014141
up seq anno feature ids: VSP_047291
up seq anno feature ids: VSP_047292

9606:SLC25A18
gene id: 9606:SLC25A18
uniprot id: A0A024R0W0
uniprot id: Q9H1K4
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: Modified Residue
up seq anno labels: Repeat
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: 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:BNIP5
gene id: 9606:BNIP5
uniprot id: P0C671
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
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: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Polar residues
up seq anno comments: Protein BNIP5
up seq anno feature ids: PRO_0000317187
up seq anno feature ids: VAR_056808

9606:OSBPL2
gene id: 9606:OSBPL2
uniprot id: B4DKJ8
uniprot id: E7ET92
uniprot id: Q9H1P3
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: Secondary Structure
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: 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: Does not significantly impair 25-hydroxycholesterol binding.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of increased cholesterol and decreased phosphatidylinositide accumulation at the cell membrane.
up seq anno comments: Loss of the ability to promote cholesterol accumulation at the cell membrane. No effect on phosphatidylinositide levels at the cell membrane.
up seq anno comments: Mildly decreased 25-hydroxycholesterol binding.
up seq anno comments: No effect on phosphatidylinositide binding, but decreased cholesterol binding, plus decreased cholesterol and phosphatidylinositide transport.
up seq anno comments: No effect on phosphatidylinositide binding, but impaired tetramerization and decreased cholesterol binding, plus decreased cholesterol and phosphatidylinositide transport.
up seq anno comments: Oxysterol-binding protein-related protein 2
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Reduces 25-hydroxycholesterol binding.
up seq anno comments: Reduces 25-hydroxycholesterol binding. Loss of 22(R)-hydroxycholesterol binding.
up seq anno feature ids: PRO_0000100369
up seq anno feature ids: VSP_003781

9606:GINS2
gene id: 9606:GINS2
uniprot id: Q9Y248
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: Secondary Structure
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Helix
up seq anno labels: Mass
up seq anno labels: Modified Residue
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: DNA replication complex GINS protein PSF2
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: This is the measured mass for the GINS complex.
up seq anno feature ids: PRO_0000194813

9606:CLCA1
gene id: 9606:CLCA1
uniprot id: A8K7I4
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: Secondary Structure
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: 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: 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: 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:KIF18A
gene id: 9606:KIF18A
uniprot id: Q8NI77
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: Secondary Structure
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: 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: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
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:CBWD1
gene id: 9606:CBWD1
uniprot id: A0A087X140
uniprot id: Q9BRT8
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: 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 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: 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: cobW
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:OR10G8
gene id: 9606:OR10G8
uniprot id: A0A126GVX3
uniprot id: Q8NGN5
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: 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_RECEP_F1_2
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 10G8
up seq anno feature ids: PRO_0000150700

9606:CCL27
gene id: 9606:CCL27
uniprot id: Q5VZ77
uniprot id: Q9Y4X3
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: Secondary Structure
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: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 9-fold reduction in binding affinity for Link domain of TNFAIP6.
up seq anno comments: C-C motif chemokine 27
up seq anno comments: SCY
up seq anno feature ids: PRO_0000005239
up seq anno feature ids: PRO_5014310170
up seq anno feature ids: VAR_022103
up seq anno feature ids: VAR_022104

9606:MLF1
gene id: 9606:MLF1
uniprot id: A0A0S2Z4U8
uniprot id: A0A140VKD2
uniprot id: B2RD48
uniprot id: P58340
uniprot id: Q2TLE4
uniprot id: Q5HYH4
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 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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
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 3.
up seq anno comments: Myeloid leukemia factor 1
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000220752
up seq anno feature ids: VAR_022070
up seq anno feature ids: VSP_043130
up seq anno feature ids: VSP_043131
up seq anno feature ids: VSP_043725
up seq anno feature ids: VSP_043726

9606:CPEB4
gene id: 9606:CPEB4
uniprot id: B7ZLQ8
uniprot id: E5RFP2
uniprot id: Q17RY0
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: Secondary Structure
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: 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: Basic residues
up seq anno comments: Cytoplasmic polyadenylation element-binding protein 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: RRM
up seq anno comments: RRM 1
up seq anno comments: RRM 2
up seq anno feature ids: PRO_0000269264
up seq anno feature ids: VSP_022040
up seq anno feature ids: VSP_022041
up seq anno feature ids: VSP_022042

9606:SMG5
gene id: 9606:SMG5
uniprot id: Q9UPR3
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: 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: 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 comments: Abolishes stimulation of RENT1 dephosphorylation.
up seq anno comments: Basic and acidic residues
up seq anno comments: N-acetylserine
up seq anno comments: Nonsense-mediated mRNA decay factor SMG5
up seq anno comments: PINc
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000076322
up seq anno feature ids: VAR_030828

9606:PPP2R2D
gene id: 9606:PPP2R2D
uniprot id: Q66LE6
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 labels: Chain
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: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B delta isoform
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_0000071433
up seq anno feature ids: VAR_057127

9606:DNAAF8
gene id: 9606:DNAAF8
uniprot id: Q8IYS4
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Dynein axonemal assembly factor 8
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000294345
up seq anno feature ids: VAR_033157
up seq anno feature ids: VAR_033158
up seq anno feature ids: VAR_033159
up seq anno feature ids: VAR_033160
up seq anno feature ids: VAR_033161
up seq anno feature ids: VAR_033162
up seq anno feature ids: VAR_033163
up seq anno feature ids: VAR_061618

9606:RXFP3
gene id: 9606:RXFP3
uniprot id: Q9NSD7
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: 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: Relaxin-3 receptor 1
up seq anno feature ids: PRO_0000070104

9606:PYGO2
gene id: 9606:PYGO2
uniprot id: Q5T170
uniprot id: Q9BRQ0
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 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: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: N-acetylalanine
up seq anno comments: Nuclear localization signal
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 comments: Pygopus homolog 2
up seq anno comments: Removed
up seq anno feature ids: PRO_0000097123

9606:KIF6
gene id: 9606:KIF6
uniprot id: Q6ZMV9
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: 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: Sequence Conflict
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 4.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Kinesin motor
up seq anno comments: Kinesin-like protein KIF6
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000125441
up seq anno feature ids: VAR_022810
up seq anno feature ids: VAR_036217
up seq anno feature ids: VAR_049698
up seq anno feature ids: VSP_014468
up seq anno feature ids: VSP_014469
up seq anno feature ids: VSP_014470
up seq anno feature ids: VSP_014471

9606:CLPTM1L
gene id: 9606:CLPTM1L
uniprot id: Q96KA5
up 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 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 a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Lipid scramblase CLPTM1L
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000331300
up seq anno feature ids: VAR_042754
up seq anno feature ids: VAR_042755
up seq anno feature ids: VSP_033157

9606:PPP3R1
gene id: 9606:PPP3R1
uniprot id: P63098
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: 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: Strand
up seq anno comments: Calcineurin subunit B type 1
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: Phosphotyrosine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000073484

9606:ACTN3
gene id: 9606:ACTN3
uniprot id: A0A087WSZ2
uniprot id: B4DZQ2
uniprot id: Q08043
up 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: 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: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Alpha-actinin-3
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: N-acetylmethionine
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_0000073438
up seq anno feature ids: VAR_012705
up seq anno feature ids: VAR_033488
up seq anno feature ids: VAR_047528
up seq anno feature ids: VAR_047529
up seq anno feature ids: VAR_080044

9606:GIN1
gene id: 9606:GIN1
uniprot id: Q9NXP7
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 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:STX12
gene id: 9606:STX12
uniprot id: Q86Y82
up 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 labels: Chain
up seq anno labels: Coiled-Coil
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: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Helical; Anchor for type IV membrane protein
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: N-acetylserine
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno comments: Syntaxin-12
up seq anno comments: Vesicular
up seq anno comments: t-SNARE coiled-coil homology
up seq anno feature ids: PRO_0000210223
up seq anno feature ids: VAR_035643

9606:TJAP1
gene id: 9606:TJAP1
uniprot id: A0A024RD56
uniprot id: Q5JTD0
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 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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
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-acetylthreonine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Pilt
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Removed
up seq anno comments: Tight junction-associated protein 1
up seq anno feature ids: PRO_0000072550
up seq anno feature ids: VSP_015999
up seq anno feature ids: VSP_016000
up seq anno feature ids: VSP_016001
up seq anno feature ids: VSP_016002

9606:ARL6
gene id: 9606:ARL6
uniprot id: Q9H0F7
up 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: 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: Lipid Binding
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-like protein 6
up seq anno comments: In BBS3.
up seq anno comments: In BBS3; abrogates the GTP-binding ability without affecting GDP-binding/dissociating properties; increased proteasomal degradation.
up seq anno comments: In BBS3; abrogates the GTP-binding ability; increased proteasomal degradation.
up seq anno comments: In BBS3; locked in a GDP-bound state that differs from its wild-type counterpart which is mainly GTP-bound; increased proteasomal degradation.
up seq anno comments: In RP55.
up seq anno comments: In isoform 2.
up seq anno comments: N-myristoyl glycine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000207472
up seq anno feature ids: VAR_027643
up seq anno feature ids: VAR_027644
up seq anno feature ids: VAR_027645
up seq anno feature ids: VAR_027646
up seq anno feature ids: VAR_064184
up seq anno feature ids: VAR_071405
up seq anno feature ids: VSP_040511

9606:TOMM40
gene id: 9606:TOMM40
uniprot id: O96008
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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.
up seq anno comments: Mitochondrial import receptor subunit TOM40 homolog
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000051523
up seq anno feature ids: VSP_008589
up seq anno feature ids: VSP_008590

9606:NECAP2
gene id: 9606:NECAP2
uniprot id: B4DUR7
uniprot id: Q9NVZ3
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Adaptin ear-binding coat-associated protein 2
up seq anno comments: DUF1681
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: WXXF motif 1
up seq anno comments: WXXF motif 2
up seq anno feature ids: PRO_0000213071
up seq anno feature ids: VAR_034154
up seq anno feature ids: VSP_013234
up seq anno feature ids: VSP_013235
up seq anno feature ids: VSP_013236
up seq anno feature ids: VSP_041726

9606:RELN
gene id: 9606:RELN
uniprot id: P78509
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: 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: Splice Variant
up seq anno comments: BNR 1
up seq anno comments: BNR 10
up seq anno comments: BNR 11
up seq anno comments: BNR 12
up seq anno comments: BNR 13
up seq anno comments: BNR 14
up seq anno comments: BNR 15
up seq anno comments: BNR 16
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: BNR 7
up seq anno comments: BNR 8
up seq anno comments: BNR 9
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: In ETL7.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Interchain
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Reelin
up seq anno feature ids: PRO_0000030304
up seq anno feature ids: VAR_047977
up seq anno feature ids: VAR_047978
up seq anno feature ids: VAR_057712
up seq anno feature ids: VAR_073862
up seq anno feature ids: VAR_073863
up seq anno feature ids: VAR_073864
up seq anno feature ids: VAR_073865
up seq anno feature ids: VAR_073866
up seq anno feature ids: VAR_073867
up seq anno feature ids: VAR_073868
up seq anno feature ids: VSP_005575
up seq anno feature ids: VSP_005576

9606:SETDB1
gene id: 9606:SETDB1
uniprot id: Q15047
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: Secondary Structure
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: 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 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: 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:WDR83OS
gene id: 9606:WDR83OS
uniprot id: Q9Y284
up 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 labels: Chain
up seq anno labels: Initiator Methionine
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: N-acetylserine
up seq anno comments: PAT complex subunit Asterix
up seq anno comments: Removed
up seq anno feature ids: PRO_0000071605
up seq anno feature ids: VAR_052498

9606:BCO1
gene id: 9606:BCO1
uniprot id: Q9HAY6
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: 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 comments: Beta,beta-carotene 15,15'-dioxygenase
up seq anno comments: In HCVAD; decreased beta-carotene 15,15'-monooxygenase activity; 90% decrease compared to wild-type; decreased catalytic efficiency; no effect on affinity for all-trans-beta-carotene.
up seq anno feature ids: PRO_0000143933
up seq anno feature ids: VAR_048406
up seq anno feature ids: VAR_048407
up seq anno feature ids: VAR_058112

9606:PDS5B
gene id: 9606:PDS5B
uniprot id: Q9NTI5
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: Secondary Structure
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: 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: A.T hook 1
up seq anno comments: A.T hook 2
up seq anno comments: A.T hook 3
up seq anno comments: Basic and acidic residues
up seq anno comments: HEAT
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
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Sister chromatid cohesion protein PDS5 homolog B
up seq anno feature ids: PRO_0000287424
up seq anno feature ids: VSP_052396
up seq anno feature ids: VSP_052397
up seq anno feature ids: VSP_052398
up seq anno feature ids: VSP_052399
up seq anno feature ids: VSP_052400
up seq anno feature ids: VSP_052401
up seq anno feature ids: VSP_052402

9606:DMXL1
gene id: 9606:DMXL1
uniprot id: B2RWN7
uniprot id: F1T0K4
uniprot id: F5H269
uniprot id: Q9Y485
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 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: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Acidic residues
up seq anno comments: DmX-like protein 1
up seq anno comments: Phosphoserine
up seq anno comments: Rav1p_C
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:DPY19L3
gene id: 9606:DPY19L3
uniprot id: Q6ZPD9
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 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 isoform 2.
up seq anno comments: Probable C-mannosyltransferase DPY19L3
up seq anno feature ids: PRO_0000311901
up seq anno feature ids: VAR_037336
up seq anno feature ids: VSP_029634
up seq anno feature ids: VSP_029635

9606:WSCD1
gene id: 9606:WSCD1
uniprot id: Q658N2
up 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 labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
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: WSC 1
up seq anno comments: WSC 2
up seq anno comments: WSC domain-containing protein 1
up seq anno feature ids: PRO_0000305061
up seq anno feature ids: VAR_035160

9606:SIAH1
gene id: 9606:SIAH1
uniprot id: Q8IUQ4
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: Secondary Structure
up seq anno parent labels: 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 labels: Zinc Finger
up seq anno comments: Abolishes ability to degrade DCC.
up seq anno comments: Decreased activity.
up seq anno comments: Decreased activity; when associated with L-66.
up seq anno comments: Decreased activity; when associated with T-68.
up seq anno comments: E3 ubiquitin-protein ligase SIAH1
up seq anno comments: Impaired ATM mediated phosphorylation, but normal interaction with HIPK2 and HIPK2 subsequent proteasomal degradation.
up seq anno comments: Impairs CTNNB1 degradation.
up seq anno comments: In A; does not impair its ability to degrade PML while it abolishes its ability to interact with CACYBP and degrade CTNNB1; when associated with A-161; A-162 and A-226.
up seq anno comments: In A; does not impair its ability to degrade PML while it abolishes its ability to interact with CACYBP and degrade CTNNB1; when associated with A-161; A-162 and A-237.
up seq anno comments: In A; does not impair its ability to degrade PML while it abolishes its ability to interact with CACYBP and degrade CTNNB1; when associated with A-226 and A-237.
up seq anno comments: In B; does not impair its ability to interact with CACYBP and degrade CTNNB1; when associated with A-253.
up seq anno comments: In B; does not impair its ability to interact with CACYBP and degrade CTNNB1; when associated with A-265.
up seq anno comments: In BURHAS.
up seq anno comments: In BURHAS; loss of function in Wnt signaling pathway.
up seq anno comments: In C; does not impair its ability to interact with CACYBP and degrade CTNNB1; when associated with A-233.
up seq anno comments: In D; does not impair its ability to interact with CACYBP and degrade CTNNB1 and PML; when associated with A-124; A-214 and A-215.
up seq anno comments: In D; does not impair its ability to interact with CACYBP and degrade CTNNB1 and PML; when associated with A-124; A-231 and A-232.
up seq anno comments: In D; does not impair its ability to interact with CACYBP and degrade CTNNB1 and PML; when associated with A-214; A-215; A-231 and A-232.
up seq anno comments: In E; does not impair its ability to interact with CACYBP and degrade CTNNB1; when associated with A-142.
up seq anno comments: In E; does not impair its ability to interact with CACYBP and degrade CTNNB1; when associated with A-151.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of function.
up seq anno comments: Loss of function; when associated with A-55 and A-59.
up seq anno comments: Loss of function; when associated with A-55 and S-72.
up seq anno comments: Loss of function; when associated with A-59 and S-72.
up seq anno comments: Loss of function; when associated with S-44.
up seq anno comments: Loss of function; when associated with Y-59.
up seq anno comments: No effect.
up seq anno comments: Phosphoserine; by ATM and ATR
up seq anno comments: RING-type
up seq anno comments: Reduced interaction with HIPK2 and HIPK2 subsequent proteasomal degradation.
up seq anno comments: SIAH-type
up seq anno feature ids: PRO_0000056163
up seq anno feature ids: VAR_085780
up seq anno feature ids: VAR_085781
up seq anno feature ids: VAR_085782
up seq anno feature ids: VAR_085783
up seq anno feature ids: VAR_085784
up seq anno feature ids: VSP_010166
up seq anno feature ids: VSP_029210
up seq anno feature ids: VSP_029211

9606:CTSH
gene id: 9606:CTSH
uniprot id: E9PKT6
uniprot id: P09668
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: Secondary Structure
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: Glycosylation Site
up seq anno labels: Helix
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 labels: Turn
up seq anno comments: Activation peptide
up seq anno comments: Cathepsin H
up seq anno comments: Cathepsin H heavy chain
up seq anno comments: Cathepsin H light chain
up seq anno comments: Cathepsin H mini chain
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: Inhibitor_I29
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Pept_C1
up seq anno feature ids: PRO_0000026206
up seq anno feature ids: PRO_0000026207
up seq anno feature ids: PRO_0000026208
up seq anno feature ids: PRO_0000026209
up seq anno feature ids: PRO_0000026210
up seq anno feature ids: PRO_0000026211
up seq anno feature ids: VAR_036478
up seq anno feature ids: VAR_057038
up seq anno feature ids: VAR_057039
up seq anno feature ids: VAR_060368
up seq anno feature ids: VAR_067717

9606:PALB2
gene id: 9606:PALB2
uniprot id: H3BN63
uniprot id: Q86YC2
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: 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: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abrogates the interaction with BRCA1; decreases double-stranded DNA break-initiated homologous recombination; reduces PALB2 and RAD51 localization to ionizing radiation-induced foci; may weaken homooligomerization.
up seq anno comments: Basic and acidic residues
up seq anno comments: Decreases double-stranded DNA break-initiated homologous recombination.
up seq anno comments: In BC; abrogates the interaction with BRCA1; abrogates double-stranded DNA break-initiated homologous recombination; abrogates PALB2 and RAD51 localization to ionizing radiation-induced foci; may weaken homooligomerization.
up seq anno comments: Loss of interaction with BRCA1 but no effect on interaction with BRCA2.
up seq anno comments: May be associated with breast cancer susceptibility.
up seq anno comments: May be associated with breast cancer susceptibility; reduces interaction with BRCA2, RAD51 and XRCC3; decreases double-stranded DNA break-initiated homologous recombination; increases sensitivity to IR.
up seq anno comments: May be associated with breast cancer susceptibility; reduces interaction with BRCA2, RAD51C, RAD51 and XRCC3; decreases double-stranded DNA break-initiated homologous recombination; increases sensitivity to IR.
up seq anno comments: PALB2_WD40
up seq anno comments: Partner and localizer of BRCA2
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Unstable and promotes protein degradation; reduces interaction with RAD51C and RAD51.
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_0000252391
up seq anno feature ids: VAR_032959
up seq anno feature ids: VAR_054150
up seq anno feature ids: VAR_066361
up seq anno feature ids: VAR_066362
up seq anno feature ids: VAR_066363
up seq anno feature ids: VAR_066364
up seq anno feature ids: VAR_066365
up seq anno feature ids: VAR_066366
up seq anno feature ids: VAR_066367
up seq anno feature ids: VAR_066368
up seq anno feature ids: VAR_066369
up seq anno feature ids: VAR_066370
up seq anno feature ids: VAR_066371
up seq anno feature ids: VAR_066372
up seq anno feature ids: VAR_066373
up seq anno feature ids: VAR_066374
up seq anno feature ids: VAR_066375
up seq anno feature ids: VAR_066376
up seq anno feature ids: VAR_066377
up seq anno feature ids: VAR_066378
up seq anno feature ids: VAR_066379
up seq anno feature ids: VAR_066380
up seq anno feature ids: VAR_066381
up seq anno feature ids: VAR_066382
up seq anno feature ids: VAR_066383
up seq anno feature ids: VAR_066384
up seq anno feature ids: VAR_079842
up seq anno feature ids: VAR_079843
up seq anno feature ids: VAR_079844
up seq anno feature ids: VAR_079845

9606:B3GNT6
gene id: 9606:B3GNT6
uniprot id: Q6ZMB0
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 labels: Chain
up seq anno labels: Glycosylation 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: Acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase
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: In isoform 3.
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000289218
up seq anno feature ids: VSP_025963
up seq anno feature ids: VSP_025964
up seq anno feature ids: VSP_047091

9606:PRAMEF12
gene id: 9606:PRAMEF12
uniprot id: O95522
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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 12
up seq anno feature ids: PRO_0000156986
up seq anno feature ids: VAR_053608
up seq anno feature ids: VAR_053609

9606:GK5
gene id: 9606:GK5
uniprot id: Q6ZS86
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: 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: In isoform 3.
up seq anno comments: Putative glycerol kinase 5
up seq anno feature ids: PRO_0000323754
up seq anno feature ids: VSP_032121
up seq anno feature ids: VSP_032122
up seq anno feature ids: VSP_032123

9606:SIVA1
gene id: 9606:SIVA1
uniprot id: O15304
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 labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Splice Variant
up seq anno comments: Abolishes phosphorylation and apoptotic activity.
up seq anno comments: Apoptosis regulatory protein Siva
up seq anno comments: In isoform 2.
up seq anno comments: No effect on phosphorylation or apoptotic activity.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine; by ABL2
up seq anno feature ids: PRO_0000097774
up seq anno feature ids: VSP_007525

9606:FIBP
gene id: 9606:FIBP
uniprot id: O43427
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Acidic fibroblast growth factor intracellular-binding protein
up seq anno comments: In TROFAS.
up seq anno comments: In isoform Short.
up seq anno comments: N-acetylthreonine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000087237
up seq anno feature ids: VAR_050991
up seq anno feature ids: VAR_050992
up seq anno feature ids: VAR_060711
up seq anno feature ids: VAR_077160
up seq anno feature ids: VSP_004250

9606:OR5T2
gene id: 9606:OR5T2
uniprot id: Q8NGG2
up 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 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 5T2
up seq anno feature ids: PRO_0000150614
up seq anno feature ids: VAR_054349
up seq anno feature ids: VAR_054350
up seq anno feature ids: VAR_054351
up seq anno feature ids: VAR_054352
up seq anno feature ids: VAR_054353
up seq anno feature ids: VAR_054354

9606:NDUFB4
gene id: 9606:NDUFB4
uniprot id: O95168
up 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 labels: Chain
up seq anno labels: Initiator Methionine
up seq anno labels: Modified Residue
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-acetylserine
up seq anno comments: NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 4
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000118800
up seq anno feature ids: VSP_042719

9606:GPR173
gene id: 9606:GPR173
uniprot id: Q9NS66
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: 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:PLAAT3
gene id: 9606:PLAAT3
uniprot id: A0A024R561
uniprot id: P53816
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: Secondary Structure
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: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
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: Acyl-thioester intermediate
up seq anno comments: Cytoplasmic
up seq anno comments: Helical
up seq anno comments: Induces a major structural rearrangement accompanied by domain-swapping dimerization and changes in substrate-specificity.
up seq anno comments: LRAT
up seq anno comments: Lumenal
up seq anno comments: No effect on PPP2R1A-binding.
up seq anno comments: No effect on PPP2R1A-binding. Impaired ability to act as a host factor for picornaviruses.
up seq anno comments: Phospholipase A and acyltransferase 3
up seq anno feature ids: PRO_0000152484

9606:ADAM29
gene id: 9606:ADAM29
uniprot id: A0A140VJD8
uniprot id: Q9UKF5
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: 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: 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: 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: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Disintegrin
up seq anno comments: Disintegrin and metalloproteinase domain-containing protein 29
up seq anno comments: EGF-like
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 a cutaneous metastatic melanoma sample; somatic mutation.
up seq anno comments: In a cutaneous metastatic melanoma sample; somatic mutation; increases the adhesion of melanoma cells to collagens I and IV.
up seq anno comments: In a melanoma cell line.
up seq anno comments: In isoform Beta.
up seq anno comments: In isoform Gamma.
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_0000029134
up seq anno feature ids: PRO_0000029135
up seq anno feature ids: PRO_5035357736
up seq anno feature ids: VAR_036148
up seq anno feature ids: VAR_036149
up seq anno feature ids: VAR_066322
up seq anno feature ids: VAR_066323
up seq anno feature ids: VAR_066324
up seq anno feature ids: VAR_066325
up seq anno feature ids: VAR_066326
up seq anno feature ids: VAR_066327
up seq anno feature ids: VAR_066328
up seq anno feature ids: VAR_066329
up seq anno feature ids: VAR_066330
up seq anno feature ids: VAR_066331
up seq anno feature ids: VAR_066332
up seq anno feature ids: VAR_066333
up seq anno feature ids: VAR_066334
up seq anno feature ids: VAR_066335
up seq anno feature ids: VAR_066336
up seq anno feature ids: VSP_005491
up seq anno feature ids: VSP_005492
up seq anno feature ids: VSP_005493

9606:CCDC157
gene id: 9606:CCDC157
uniprot id: Q569K6
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 labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Coiled-coil domain-containing protein 157
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000319420
up seq anno feature ids: VAR_038999
up seq anno feature ids: VAR_039000
up seq anno feature ids: VAR_060124

9606:STMN2
gene id: 9606:STMN2
uniprot id: Q93045
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 labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Domain Extent
up seq anno labels: Lipid Binding
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: Phosphoserine
up seq anno comments: S-palmitoyl cysteine
up seq anno comments: SLD
up seq anno comments: Stathmin-2
up seq anno feature ids: PRO_0000182396
up seq anno feature ids: VSP_045047

9606:POLG2
gene id: 9606:POLG2
uniprot id: E5KS15
uniprot id: Q9UHN1
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: Secondary Structure
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: 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: DNA polymerase subunit gamma-2, mitochondrial
up seq anno comments: HGTP_anticodon
up seq anno comments: In MTDPS16; decreased function in mitochondrial DNA replication; decreased protein stability; no effect on DNA binding.
up seq anno comments: In MTDPS16B; decreased DNA polymerase processivity factor activity; results in decreased stability; affects the secondary structure as shown by circular dichroism spectroscopy.
up seq anno comments: In PEOA4; affects stimulation of the catalytic subunit.
up seq anno comments: Mitochondrion
up seq anno comments: No functional deficit.
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000007314
up seq anno feature ids: VAR_029364
up seq anno feature ids: VAR_032028
up seq anno feature ids: VAR_032029
up seq anno feature ids: VAR_078773
up seq anno feature ids: VAR_086017

9606:ZNF614
gene id: 9606:ZNF614
uniprot id: Q8N883
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 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 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; 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 614
up seq anno feature ids: PRO_0000234598
up seq anno feature ids: VAR_052878
up seq anno feature ids: VAR_052879
up seq anno feature ids: VAR_052880
up seq anno feature ids: VAR_061959
up seq anno feature ids: VSP_056549
up seq anno feature ids: VSP_056550

9606:SNAP91
gene id: 9606:SNAP91
uniprot id: B7Z2N2
uniprot id: E9PDG8
uniprot id: O60641
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 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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Asymmetric dimethylarginine; alternate
up seq anno comments: Clathrin coat assembly protein AP180
up seq anno comments: ENTH
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: O-linked (GlcNAc) threonine
up seq anno comments: Omega-N-methylarginine; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000193864
up seq anno feature ids: VSP_020997
up seq anno feature ids: VSP_020998
up seq anno feature ids: VSP_020999
up seq anno feature ids: VSP_021000
up seq anno feature ids: VSP_047049

9606:LYPLA2
gene id: 9606:LYPLA2
uniprot id: A0A140VJC9
uniprot id: O95372
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: Site
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: Lipid Binding
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: Abhydrolase_2
up seq anno comments: Abolishes ability to mediate depalmitoylation of ZDHHC6.
up seq anno comments: Abolishes palmitoylation.
up seq anno comments: Acyl-protein thioesterase 2
up seq anno comments: Charge relay system
up seq anno comments: Phosphoserine
up seq anno comments: S-palmitoyl cysteine
up seq anno feature ids: PRO_0000102271

9606:CCDC115
gene id: 9606:CCDC115
uniprot id: A1QKJ6
uniprot id: B8ZZ99
uniprot id: Q96NT0
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: 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: 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:COPRS
gene id: 9606:COPRS
uniprot id: H9KV77
uniprot id: Q9NQ92
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Coordinator of PRMT5 and differentiation stimulator
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000336077
up seq anno feature ids: VAR_043538

9606:AARSD1
gene id: 9606:AARSD1
uniprot id: Q9BTE6
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Splice Variant
up seq anno comments: Alanyl-tRNA editing protein Aarsd1
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_0000277465
up seq anno feature ids: VSP_023014
up seq anno feature ids: VSP_043142

9606:ZNF233
gene id: 9606:ZNF233
uniprot id: A6NK53
uniprot id: K7ER86
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 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; degenerate
up seq anno comments: C2H2-type 3; degenerate
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: KRAB
up seq anno comments: Zinc finger protein 233
up seq anno feature ids: PRO_0000304407
up seq anno feature ids: VAR_035022
up seq anno feature ids: VAR_035023

9606:MYL2
gene id: 9606:MYL2
uniprot id: P10916
uniprot id: Q6IB42
up 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: 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: Modified Residue
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: In CMH10.
up seq anno comments: In CMH10; decrease calcium binding affinity.
up seq anno comments: In CMH10; impairs calcium binding; bind calcium upon phosphorylation.
up seq anno comments: In CMH10; some patients present with mid-left ventricular chamber thickening; significantly decrease calcium binding affinity; loss of phosphorylation.
up seq anno comments: In CMH10; with mid-left ventricular chamber thickening; decrease calcium binding affinity.
up seq anno comments: In CMH10; with mid-left ventricular chamber thickening; decrease calcium binding affinity; large increase in its calcium binding affinity upon phosphorylation.
up seq anno comments: Myosin regulatory light chain 2, ventricular/cardiac muscle isoform
up seq anno comments: N,N,N-trimethylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by ZIPK/DAPK3
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000198727
up seq anno feature ids: VAR_004601
up seq anno feature ids: VAR_004602
up seq anno feature ids: VAR_004603
up seq anno feature ids: VAR_004604
up seq anno feature ids: VAR_004605
up seq anno feature ids: VAR_019844
up seq anno feature ids: VAR_029449

9606:SLCO1C1
gene id: 9606:SLCO1C1
uniprot id: Q9NYB5
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 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: 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: Gain of pH-sensitivity of E1S transport.
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: In isoform 3 and isoform 4.
up seq anno comments: In isoform 4.
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 1C1
up seq anno feature ids: PRO_0000191054
up seq anno feature ids: VSP_042882
up seq anno feature ids: VSP_045278
up seq anno feature ids: VSP_045279

9606:PLA2G4F
gene id: 9606:PLA2G4F
uniprot id: A5PKZ7
uniprot id: Q68DD2
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: 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 labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: C2
up seq anno comments: Cytosolic phospholipase A2 zeta
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Nucleophile
up seq anno comments: PLA2c
up seq anno comments: Phospholipase A2
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000247027
up seq anno feature ids: PRO_5002686184
up seq anno feature ids: VAR_027054
up seq anno feature ids: VAR_053553
up seq anno feature ids: VSP_019887
up seq anno feature ids: VSP_019888
up seq anno feature ids: VSP_019889

9606:TRMT44
gene id: 9606:TRMT44
uniprot id: Q8IYL2
up 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 labels: Chain
up seq anno labels: Modified Residue
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: 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:ABHD11
gene id: 9606:ABHD11
uniprot id: C9J7Q4
uniprot id: D3DXF2
uniprot id: Q8NFV4
up 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: Site
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: Splice Variant
up seq anno comments: AB hydrolase-1
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 and isoform 5.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: N6-succinyllysine
up seq anno comments: Protein ABHD11
up seq anno feature ids: PRO_0000281003
up seq anno feature ids: VSP_023924
up seq anno feature ids: VSP_023925
up seq anno feature ids: VSP_023926
up seq anno feature ids: VSP_023927
up seq anno feature ids: VSP_023928
up seq anno feature ids: VSP_023929
up seq anno feature ids: VSP_023930
up seq anno feature ids: VSP_046994

9606:TTC12
gene id: 9606:TTC12
uniprot id: A8K8G6
uniprot id: J3KR69
uniprot id: Q53G14
uniprot id: Q9H892
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 labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Non-terminal 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 comments: In CILD45; reduced protein abundance; changed axonemal dynein complex assembly.
up seq anno comments: In CILD45; reduced protein abundance; changed axonemal dynein complex assembly; loss of sperm axoneme assembly.
up seq anno comments: In isoform 2.
up seq anno comments: Phosphothreonine
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: Tetratricopeptide repeat protein 12
up seq anno feature ids: PRO_0000106395
up seq anno feature ids: VAR_031431
up seq anno feature ids: VAR_031432
up seq anno feature ids: VAR_061903
up seq anno feature ids: VAR_083923
up seq anno feature ids: VAR_083924
up seq anno feature ids: VAR_083925
up seq anno feature ids: VSP_009119

9606:ZNF530
gene id: 9606:ZNF530
uniprot id: M0R1P0
uniprot id: Q6P9A1
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: 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 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: Polar residues
up seq anno comments: Zinc finger protein 530
up seq anno feature ids: PRO_0000304997
up seq anno feature ids: VAR_035144
up seq anno feature ids: VAR_035145
up seq anno feature ids: VAR_035146
up seq anno feature ids: VAR_035147
up seq anno feature ids: VAR_035148

9606:TBC1D20
gene id: 9606:TBC1D20
uniprot id: Q96BZ9
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 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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: 1000-fold decrease in GAP activity.
up seq anno comments: Helical
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 20
up seq anno feature ids: PRO_0000208048
up seq anno feature ids: VAR_052543
up seq anno feature ids: VSP_008100
up seq anno feature ids: VSP_008101
up seq anno feature ids: VSP_008102
up seq anno feature ids: VSP_031524

9606:GDAP1L1
gene id: 9606:GDAP1L1
uniprot id: A0A087WWT8
uniprot id: B7Z1I3
uniprot id: H0UIB3
uniprot id: Q96MZ0
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 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: GST C-terminal
up seq anno comments: GST N-terminal
up seq anno comments: Ganglioside-induced differentiation-associated protein 1-like 1
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: In isoform 3.
up seq anno feature ids: PRO_0000186040
up seq anno feature ids: VAR_036556
up seq anno feature ids: VSP_008793
up seq anno feature ids: VSP_008794
up seq anno feature ids: VSP_053683

9606:TBX3
gene id: 9606:TBX3
uniprot id: A0A024RBL6
uniprot id: A0A024RBQ4
uniprot id: O15119
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: Secondary Structure
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: 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: In UMS.
up seq anno comments: In isoform I.
up seq anno comments: In isoform III.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Reduces binding to T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence.
up seq anno comments: T-box
up seq anno comments: T-box transcription factor TBX3
up seq anno comments: T-box; first part
up seq anno comments: T-box; second part
up seq anno feature ids: PRO_0000184428
up seq anno feature ids: VAR_009601
up seq anno feature ids: VAR_009602
up seq anno feature ids: VSP_006384
up seq anno feature ids: VSP_006385
up seq anno feature ids: VSP_006386

9606:ELP2
gene id: 9606:ELP2
uniprot id: Q6IA86
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 labels: Chain
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: Abolishes interaction with ELP1 and ELP3.
up seq anno comments: Elongator complex protein 2
up seq anno comments: In MRT58; unknown pathological significance.
up seq anno comments: In isoform 2 and isoform 3.
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: In isoform 6.
up seq anno comments: In isoform 7.
up seq anno comments: No effect on interaction with ELP1 or ELP3; when associated with A-634, A-636 and A-670.
up seq anno comments: No effect on interaction with ELP1 or ELP3; when associated with A-634, A-636 and A-689.
up seq anno comments: No effect on interaction with ELP1 or ELP3; when associated with A-634, A-670 and A-689.
up seq anno comments: No effect on interaction with ELP1 or ELP3; when associated with A-636, A-670 and A-689.
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_0000051241
up seq anno feature ids: VAR_024072
up seq anno feature ids: VAR_024073
up seq anno feature ids: VAR_024074
up seq anno feature ids: VAR_024075
up seq anno feature ids: VAR_024076
up seq anno feature ids: VAR_033804
up seq anno feature ids: VAR_033805
up seq anno feature ids: VAR_033806
up seq anno feature ids: VAR_077989
up seq anno feature ids: VAR_077990
up seq anno feature ids: VSP_016531
up seq anno feature ids: VSP_016532
up seq anno feature ids: VSP_016533
up seq anno feature ids: VSP_043410
up seq anno feature ids: VSP_044978
up seq anno feature ids: VSP_044979

9606:ASPSCR1
gene id: 9606:ASPSCR1
uniprot id: Q9BZE9
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: Secondary Structure
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: 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: 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: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno comments: Tether containing UBX domain for GLUT4
up seq anno comments: UBX
up seq anno feature ids: PRO_0000249885
up seq anno feature ids: VAR_027503
up seq anno feature ids: VAR_027504
up seq anno feature ids: VAR_034745
up seq anno feature ids: VSP_020574
up seq anno feature ids: VSP_020575
up seq anno feature ids: VSP_020576
up seq anno feature ids: VSP_020577
up seq anno feature ids: VSP_020578

9606:GNRH1
gene id: 9606:GNRH1
uniprot id: P01148
up 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 labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Peptide
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Glycine amide
up seq anno comments: GnRH-associated peptide 1
up seq anno comments: Gonadoliberin-1
up seq anno comments: In HH12; uncertain pathological significance; the patient also carries mutations in PROKR2 and FGFR1.
up seq anno comments: Progonadoliberin-1
up seq anno comments: Pyrrolidone carboxylic acid
up seq anno feature ids: PRO_0000012395
up seq anno feature ids: PRO_0000012396
up seq anno feature ids: PRO_0000012397
up seq anno feature ids: VAR_013943
up seq anno feature ids: VAR_069966

9606:HTR2A
gene id: 9606:HTR2A
uniprot id: P28223
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: Secondary Structure
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: 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: 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: 5-hydroxytryptamine receptor 2A
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: In isoform 2.
up seq anno comments: Increased ability of hallucinogens to desensitize the receptor.
up seq anno comments: Loss of interaction with PATJ, CASK, APBA1, DLG1 and DLG4.
up seq anno comments: Loss of interaction with PATJ.
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 comments: No effect on interaction with PATJ. Acquires the binding properties of HTR2C; when associated with S-465.
up seq anno comments: No effect on interaction with PATJ. Acquires the binding properties of HTR2C; when associated with S-470.
up seq anno comments: PDZ-binding
up seq anno comments: Phosphoserine
up seq anno comments: Reduced receptor desensitization by nonhallucinogenic agonists.
up seq anno comments: Strongly increases dissociation of bound lysergic acid diethylamine, without affecting binding affinity. Reduces signaling via arrestins, but has no effect on signaling via the phosphatidylinositol-calcium second messenger system.
up seq anno feature ids: PRO_0000068946
up seq anno feature ids: VAR_003448
up seq anno feature ids: VAR_003449
up seq anno feature ids: VAR_013901
up seq anno feature ids: VAR_013902
up seq anno feature ids: VSP_046663

9606:TCL1A
gene id: 9606:TCL1A
uniprot id: P56279
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: Secondary Structure
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: Greatly reduced binding to AKT1, AKT2 and AKT3. Abolishes nuclear transport of AKT1.
up seq anno comments: Greatly reduced binding to AKT2. Abolishes nuclear transport of AKT1.
up seq anno comments: Slightly increased binding to AKT2.
up seq anno comments: Slightly reduced binding to AKT2.
up seq anno comments: T-cell leukemia/lymphoma protein 1A
up seq anno comments: Unable to homodimerize but has no effect on interaction with AKT1, AKT2 or AKT3.
up seq anno feature ids: PRO_0000184488
up seq anno feature ids: VAR_053718

9606:PRSS55
gene id: 9606:PRSS55
uniprot id: Q6UWB4
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: 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: 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 labels: Splice Variant
up seq anno comments: Charge relay system
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: Peptidase S1
up seq anno comments: Removed in mature form
up seq anno comments: Serine protease 55
up seq anno feature ids: PRO_0000328815
up seq anno feature ids: PRO_0000449398
up seq anno feature ids: VAR_042525
up seq anno feature ids: VAR_042526
up seq anno feature ids: VSP_044557

9606:RANBP3L
gene id: 9606:RANBP3L
uniprot id: Q86VV4
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 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: Ran-binding protein 3-like
up seq anno comments: RanBD1
up seq anno feature ids: PRO_0000312749
up seq anno feature ids: VAR_037557
up seq anno feature ids: VAR_037558
up seq anno feature ids: VAR_037559
up seq anno feature ids: VSP_029893
up seq anno feature ids: VSP_029894
up seq anno feature ids: VSP_044463

9606:HAO2
gene id: 9606:HAO2
uniprot id: Q9NYQ3
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: 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: Motif
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: 2-Hydroxyacid oxidase 2
up seq anno comments: FMN hydroxy acid dehydrogenase
up seq anno comments: In isoform 2.
up seq anno comments: Microbody targeting signal
up seq anno comments: Phosphothreonine
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000206320
up seq anno feature ids: VAR_049087
up seq anno feature ids: VAR_049088
up seq anno feature ids: VSP_055095

9606:FBXO21
gene id: 9606:FBXO21
uniprot id: A0A024RBL8
uniprot id: A0A024RBR2
uniprot id: O94952
uniprot id: Q8IUQ5
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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: F-box
up seq anno comments: F-box only protein 21
up seq anno comments: In isoform 2.
up seq anno comments: YccV-like
up seq anno feature ids: PRO_0000119903
up seq anno feature ids: VAR_047919
up seq anno feature ids: VSP_035975

9606:CXorf51A
gene id: 9606:CXorf51A
uniprot id: A0A1B0GTR3
uniprot id: P0DPH9
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 comments: Basic and acidic residues
up seq anno comments: Basic residues
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:TTC39B
gene id: 9606:TTC39B
uniprot id: Q5VTQ0
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 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 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: TPR 1
up seq anno comments: TPR 2
up seq anno comments: Tetratricopeptide repeat protein 39B
up seq anno feature ids: PRO_0000292000
up seq anno feature ids: VAR_032926
up seq anno feature ids: VAR_054078
up seq anno feature ids: VSP_026355
up seq anno feature ids: VSP_042798
up seq anno feature ids: VSP_042799
up seq anno feature ids: VSP_042800
up seq anno feature ids: VSP_042801
up seq anno feature ids: VSP_042802
up seq anno feature ids: VSP_042803

9606:AKAIN1
gene id: 9606:AKAIN1
uniprot id: J3KS16
uniprot id: P0CW23
up seq anno parent labels: Experimental Information
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: Mutagenesis Site
up seq anno comments: A-kinase anchor protein inhibitor 1
up seq anno comments: AKAP7_RIRII_bdg
up seq anno comments: Basic and acidic residues
up seq anno comments: Reduces binding to RII subunits of PKA.
up seq anno feature ids: PRO_0000410771

9606:RPL7
gene id: 9606:RPL7
uniprot id: P18124
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 labels: Chain
up seq anno labels: Modified Residue
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: 60S ribosomal protein L7
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:GABRR1
gene id: 9606:GABRR1
uniprot id: P24046
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 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: 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: 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:CDK2AP2
gene id: 9606:CDK2AP2
uniprot id: O75956
uniprot id: Q6IAV4
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: Strand
up seq anno comments: Cyclin-dependent kinase 2-associated protein 2
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000079963

9606:DCXR
gene id: 9606:DCXR
uniprot id: A0A384NY14
uniprot id: Q7Z4W1
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: Secondary Structure
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: 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 comments: L-xylulose reductase
up seq anno comments: Loss of function. Probably due to defects in formation of the active site and binding of coenzyme.
up seq anno comments: N-acetylmethionine
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000054554

9606:EME1
gene id: 9606:EME1
uniprot id: Q96AY2
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: Secondary Structure
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: 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: Crossover junction endonuclease EME1
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: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000223630
up seq anno feature ids: VAR_025337
up seq anno feature ids: VAR_025338
up seq anno feature ids: VAR_025339
up seq anno feature ids: VAR_055708
up seq anno feature ids: VAR_055709
up seq anno feature ids: VAR_055710
up seq anno feature ids: VSP_017284

9606:BICC1
gene id: 9606:BICC1
uniprot id: Q9H694
up 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 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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Found in a family with atypical autism and severe epilepsy; unknown pathological significance.
up seq anno comments: In CYSRD; may impair splicing; hypomorphic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: KH 1
up seq anno comments: KH 2
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Protein bicaudal C homolog 1
up seq anno comments: SAM
up seq anno feature ids: PRO_0000267714
up seq anno feature ids: VAR_029658
up seq anno feature ids: VAR_033542
up seq anno feature ids: VAR_060133
up seq anno feature ids: VAR_066759
up seq anno feature ids: VAR_066760
up seq anno feature ids: VAR_072077
up seq anno feature ids: VSP_021949

9606:SLC35B2
gene id: 9606:SLC35B2
uniprot id: Q8TB61
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 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 labels: Transmembrane
up seq anno comments: Adenosine 3'-phospho 5'-phosphosulfate transporter 1
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: Phosphoserine
up seq anno feature ids: PRO_0000213374
up seq anno feature ids: VAR_022657
up seq anno feature ids: VSP_014084
up seq anno feature ids: VSP_026949
up seq anno feature ids: VSP_054696
up seq anno feature ids: VSP_054697
up seq anno feature ids: VSP_057436

9606:CFAP92
gene id: 9606:CFAP92
uniprot id: Q9ULG3
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno comments: Uncharacterized protein CFAP92
up seq anno feature ids: PRO_0000320679
up seq anno feature ids: VSP_031739

9606:POP1
gene id: 9606:POP1
uniprot id: Q96F88
uniprot id: Q99575
up 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 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: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: In ANXD2.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: POP1
up seq anno comments: POPLD
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
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:PATZ1
gene id: 9606:PATZ1
uniprot id: A0A024R1F8
uniprot id: A0A024R1H7
uniprot id: A0A024R1M5
uniprot id: Q9HBE1
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: Secondary Structure
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: 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.T hook
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: C2H2-type 7
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
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: POZ-, AT hook-, and zinc finger-containing protein 1
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000047504
up seq anno feature ids: VAR_052724
up seq anno feature ids: VSP_008799
up seq anno feature ids: VSP_008800
up seq anno feature ids: VSP_008801
up seq anno feature ids: VSP_008802

9606:MANSC4
gene id: 9606:MANSC4
uniprot id: A6NHS7
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: Domain Extent
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: Helical
up seq anno comments: MANSC
up seq anno comments: MANSC domain-containing protein 4
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000349176

9606:ZNF671
gene id: 9606:ZNF671
uniprot id: B7Z1N1
uniprot id: Q8TAW3
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
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 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 671
up seq anno feature ids: PRO_0000233990
up seq anno feature ids: VAR_026151
up seq anno feature ids: VAR_055240

9606:BMP2
gene id: 9606:BMP2
uniprot id: C8C060
uniprot id: P12643
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: Secondary Structure
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: 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: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Bone morphogenetic protein 2
up seq anno comments: Cleaved by PCSK5
up seq anno comments: Complete loss of type I receptor binding.
up seq anno comments: In SSFSC.
up seq anno comments: Interchain
up seq anno comments: N-linked (GlcNAc...) (high mannose) asparagine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: TGF_BETA_2
up seq anno feature ids: PRO_0000033824
up seq anno feature ids: PRO_0000033825
up seq anno feature ids: PRO_5010110768
up seq anno feature ids: VAR_020061
up seq anno feature ids: VAR_020062
up seq anno feature ids: VAR_024232
up seq anno feature ids: VAR_052568
up seq anno feature ids: VAR_052569
up seq anno feature ids: VAR_052570
up seq anno feature ids: VAR_080742
up seq anno feature ids: VAR_080743
up seq anno feature ids: VAR_080744

9606:SPATA31A6
gene id: 9606:SPATA31A6
uniprot id: Q5VVP1
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: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Helical
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Spermatogenesis-associated protein 31A6
up seq anno feature ids: PRO_0000297668

9606:GPR176
gene id: 9606:GPR176
uniprot id: Q14439
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: G-protein coupled receptor 176
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: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000069656
up seq anno feature ids: VSP_058845
up seq anno feature ids: VSP_058846

9606:TOGARAM2
gene id: 9606:TOGARAM2
uniprot id: B4DLF7
uniprot id: Q6ZUX3
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Polar residues
up seq anno comments: TOG
up seq anno comments: TOG array regulator of axonemal microtubules protein 2
up seq anno feature ids: PRO_0000325938
up seq anno feature ids: VAR_054091
up seq anno feature ids: VAR_054092
up seq anno feature ids: VAR_054093
up seq anno feature ids: VAR_054094
up seq anno feature ids: VAR_054095
up seq anno feature ids: VAR_054096
up seq anno feature ids: VAR_054097
up seq anno feature ids: VAR_062242
up seq anno feature ids: VSP_032491
up seq anno feature ids: VSP_032492
up seq anno feature ids: VSP_032493
up seq anno feature ids: VSP_032494
up seq anno feature ids: VSP_032495

9606:CDK8
gene id: 9606:CDK8
uniprot id: P49336
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: 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: 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: Abrogates kinase activity and TFIIH-dependent transcriptional repression.
up seq anno comments: Cyclin-dependent kinase 8
up seq anno comments: In IDDHBA; decreased protein kinase activity.
up seq anno comments: In IDDHBA; unknown pathological significance.
up seq anno comments: In a colorectal 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: Polar residues
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000085797
up seq anno feature ids: VAR_041980
up seq anno feature ids: VAR_041981
up seq anno feature ids: VAR_083786
up seq anno feature ids: VAR_083787
up seq anno feature ids: VAR_083788
up seq anno feature ids: VAR_083789
up seq anno feature ids: VAR_083790
up seq anno feature ids: VAR_083791
up seq anno feature ids: VAR_083792
up seq anno feature ids: VAR_083793
up seq anno feature ids: VSP_029970

9606:NSG1
gene id: 9606:NSG1
uniprot id: B2R5R8
uniprot id: P42857
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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: 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: Neuronal vesicle trafficking-associated protein 1
up seq anno feature ids: PRO_0000164363
up seq anno feature ids: VSP_054333

9606:IFIH1
gene id: 9606:IFIH1
uniprot id: Q9BYX4
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: Secondary Structure
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: 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: Acidic residues
up seq anno comments: Associated with susceptibility to IDDM19.
up seq anno comments: CARD 1
up seq anno comments: CARD 2
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ISG15)
up seq anno comments: Helicase ATP-binding
up seq anno comments: Helicase C-terminal
up seq anno comments: In AGS7; enhances IFNB1 promoter activation; loss of ligand-induced responsiveness.
up seq anno comments: In AGS7; enhances the interferon signaling pathway activation; enhances the stability of filament formation; enhances dsRNA binding activity; enhances IFNB1 promoter activation; no loss of ATP hydrolysis.
up seq anno comments: In AGS7; enhances the interferon signaling pathway activation; enhances the stability of filament formation; enhances dsRNA binding activity; no loss of ATP hydrolysis.
up seq anno comments: In IMD95; does not bind the double-stranded RNA analog poly(I:C); loss of IFNB1 and NFKB promoter activation after stimulation with poly(I:C), when tested in a luciferase reporter assay.
up seq anno comments: In IMD95; no protein detected by Western blot in homozygous patient cells.
up seq anno comments: In SGMRT1; gain-of-function mutation resulting in enhanced INFB1 induction.
up seq anno comments: In isoform 2.
up seq anno comments: Increases ISGylation.
up seq anno comments: Inhibits multimerization after polyI:C stimulation.
up seq anno comments: Interferon-induced helicase C domain-containing protein 1
up seq anno comments: Loss of ISGylation, loss of oligomerization, strongly reduced signaling activity and IFNB induction, loss of virus replication restriction, no effect on phosphorylation or RNA-binding; when associated with A-23.
up seq anno comments: Loss of ISGylation, loss of oligomerization, strongly reduced signaling activity and IFNB induction, loss of virus replication restriction, no effect on phosphorylation or RNA-binding; when associated with A-43.
up seq anno comments: Loss of dsRNA-induced ATPase activity. Loss of MDA-5 signaling pathway.
up seq anno comments: Loss of dsRNA-induced ATPase activity. No effect on MDA-5 signaling pathway.
up seq anno comments: Loss of dsRNA-induced ATPase activity. No effect on RNA binding. Changed MDA-5 signaling pathway.
up seq anno comments: Loss of oligomerization.
up seq anno comments: Loss of signaling activity and IFNB induction. Reduced ISGylation. Loss of virus replication restriction.
up seq anno comments: Moderately increases signaling.
up seq anno comments: No acceleration of DNA degradation, no binding to ATP, and no helicase activity.
up seq anno comments: No cleavage and no acceleration of DNA degradation.
up seq anno comments: No effect on ISGylation or signaling activity and IFNB induction.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by RIOK3
up seq anno comments: Polar residues
up seq anno comments: Promotes multimerization after polyI:C stimulation; greatly enhances signaling.
up seq anno comments: RLR CTR
up seq anno feature ids: PRO_0000102012
up seq anno feature ids: VAR_021594
up seq anno feature ids: VAR_021595
up seq anno feature ids: VAR_031226
up seq anno feature ids: VAR_071375
up seq anno feature ids: VAR_071376
up seq anno feature ids: VAR_071377
up seq anno feature ids: VAR_071378
up seq anno feature ids: VAR_071379
up seq anno feature ids: VAR_071380
up seq anno feature ids: VAR_071381
up seq anno feature ids: VAR_071382
up seq anno feature ids: VAR_073666
up seq anno feature ids: VAR_087007
up seq anno feature ids: VAR_087008
up seq anno feature ids: VSP_013337
up seq anno feature ids: VSP_013338

9606:FCHSD1
gene id: 9606:FCHSD1
uniprot id: Q86WN1
up 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 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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: F-BAR
up seq anno comments: F-BAR and double SH3 domains protein 1
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 comments: SH3 1
up seq anno comments: SH3 2
up seq anno feature ids: PRO_0000278212
up seq anno feature ids: VAR_030692
up seq anno feature ids: VAR_030693
up seq anno feature ids: VSP_023160
up seq anno feature ids: VSP_023161
up seq anno feature ids: VSP_023162
up seq anno feature ids: VSP_023163
up seq anno feature ids: VSP_023164
up seq anno feature ids: VSP_023165

9606:NECAB2
gene id: 9606:NECAB2
uniprot id: Q7Z6G3
up 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: 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: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: ABM
up seq anno comments: Asymmetric dimethylarginine
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: N-terminal EF-hand calcium-binding protein 2
up seq anno comments: Omega-N-methylarginine
up seq anno feature ids: PRO_0000282613
up seq anno feature ids: VAR_048639
up seq anno feature ids: VAR_048640
up seq anno feature ids: VAR_048641
up seq anno feature ids: VAR_048642
up seq anno feature ids: VSP_058936

9606:GZF1
gene id: 9606:GZF1
uniprot id: Q9H116
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 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: 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 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: Decreased repression activity.
up seq anno comments: Found in a renal cell carcinoma sample; somatic mutation.
up seq anno comments: GDNF-inducible zinc finger protein 1
up seq anno comments: In JLSM.
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000047539
up seq anno feature ids: VAR_024212
up seq anno feature ids: VAR_052735
up seq anno feature ids: VAR_052736
up seq anno feature ids: VAR_052737
up seq anno feature ids: VAR_059890
up seq anno feature ids: VAR_059891
up seq anno feature ids: VAR_064718
up seq anno feature ids: VAR_080250
up seq anno feature ids: VSP_055933

9606:ANKMY2
gene id: 9606:ANKMY2
uniprot id: A0A024R9Z6
uniprot id: Q8IV38
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: 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: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Zinc Finger
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: Ankyrin repeat and MYND domain-containing protein 2
up seq anno comments: Basic and acidic residues
up seq anno comments: MYND-type
up seq anno feature ids: PRO_0000247166

9606:TMEM106A
gene id: 9606:TMEM106A
uniprot id: B7Z779
uniprot id: Q96A25
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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 106A
up seq anno feature ids: PRO_0000242137
up seq anno feature ids: VSP_056642

9606:IRAG1
gene id: 9606:IRAG1
uniprot id: Q9Y6F6
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 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: 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: Helical
up seq anno comments: In isoform 1.
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 5.
up seq anno comments: In isoform 4, 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: In isoform 8.
up seq anno comments: Inositol 1,4,5-triphosphate receptor associated 1
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000305292
up seq anno feature ids: VAR_056942
up seq anno feature ids: VAR_056943
up seq anno feature ids: VAR_056944
up seq anno feature ids: VAR_056945
up seq anno feature ids: VAR_056946
up seq anno feature ids: VSP_028341
up seq anno feature ids: VSP_028342
up seq anno feature ids: VSP_040452
up seq anno feature ids: VSP_046361
up seq anno feature ids: VSP_046362
up seq anno feature ids: VSP_046363
up seq anno feature ids: VSP_059440
up seq anno feature ids: VSP_059441
up seq anno feature ids: VSP_059442

9606:RAB36
gene id: 9606:RAB36
uniprot id: O95755
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: 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
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:PSMB2
gene id: 9606:PSMB2
uniprot id: P49721
up seq anno parent labels: Modification
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: Modified Residue
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: N-acetylmethionine
up seq anno comments: Proteasome subunit beta type-2
up seq anno feature ids: PRO_0000148043

9606:IARS2
gene id: 9606:IARS2
uniprot id: Q9NSE4
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: 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: Transit Peptide
up seq anno comments: 'HIGH' region
up seq anno comments: 'KMSKS' region
up seq anno comments: Found in a patient with Leigh syndrome; unknown pathological significance.
up seq anno comments: In CAGSSS; unknown pathological significance.
up seq anno comments: Isoleucine--tRNA ligase, 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_0000233335
up seq anno feature ids: VAR_034526
up seq anno feature ids: VAR_059862
up seq anno feature ids: VAR_072590
up seq anno feature ids: VAR_072591
up seq anno feature ids: VAR_083400
up seq anno feature ids: VAR_083401
up seq anno feature ids: VAR_083402
up seq anno feature ids: VAR_083403
up seq anno feature ids: VAR_083404
up seq anno feature ids: VAR_084826
up seq anno feature ids: VAR_084827
up seq anno feature ids: VAR_084828

9606:DENND5A
gene id: 9606:DENND5A
uniprot id: A0A7P0Z4N9
uniprot id: Q6IQ26
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 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: 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: DENN domain-containing protein 5A
up seq anno comments: In DEE49; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: PLAT
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: RUN
up seq anno comments: RUN 1
up seq anno comments: RUN 2
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_0000097142
up seq anno feature ids: VAR_028409
up seq anno feature ids: VAR_078555
up seq anno feature ids: VSP_044688

9606:APOBEC3B
gene id: 9606:APOBEC3B
uniprot id: Q9UH17
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: 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: 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: CMP/dCMP-type deaminase 1
up seq anno comments: CMP/dCMP-type deaminase 2
up seq anno comments: DNA dC->dU-editing enzyme APOBEC-3B
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Proton donor
up seq anno feature ids: PRO_0000171753
up seq anno feature ids: VAR_018142
up seq anno feature ids: VAR_018143
up seq anno feature ids: VAR_018144
up seq anno feature ids: VAR_033455
up seq anno feature ids: VAR_048722
up seq anno feature ids: VSP_009802
up seq anno feature ids: VSP_044900

9606:USP2
gene id: 9606:USP2
uniprot id: O75604
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: 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: 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: 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: 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:GSTCD
gene id: 9606:GSTCD
uniprot id: B7Z8J7
uniprot id: Q8NEC7
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 labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: GST C-terminal
up seq anno comments: Glutathione S-transferase C-terminal domain-containing protein
up seq anno comments: In isoform 2.
up seq anno comments: Methyltranfer_dom
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000316952
up seq anno feature ids: VSP_045228

9606:KHDC1
gene id: 9606:KHDC1
uniprot id: Q4VXA5
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 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: Helical
up seq anno comments: In isoform 2.
up seq anno comments: KH homology domain-containing protein 1
up seq anno comments: KH; atypical
up seq anno feature ids: PRO_0000311358
up seq anno feature ids: VSP_029543

9606:IMPA2
gene id: 9606:IMPA2
uniprot id: O14732
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: Secondary Structure
up seq anno parent labels: 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: 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: Inositol monophosphatase 2
up seq anno comments: Loss of activity.
up seq anno feature ids: PRO_0000142520
up seq anno feature ids: VAR_049601
up seq anno feature ids: VSP_013674

9606:USF1
gene id: 9606:USF1
uniprot id: A0A0S2Z4U5
uniprot id: P22415
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: Secondary Structure
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: Non-terminal Residue
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: BHLH
up seq anno comments: Basic and acidic residues
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: Upstream stimulatory factor 1
up seq anno comments: bHLH
up seq anno feature ids: PRO_0000127496
up seq anno feature ids: VSP_047740

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: 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: Secondary Structure
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: Helix
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: AGC-kinase C-terminal
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:FAM163B
gene id: 9606:FAM163B
uniprot id: P0C2L3
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: Modified Residue
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: Phosphoserine
up seq anno comments: Protein FAM163B
up seq anno feature ids: PRO_0000280258

9606:NRAP
gene id: 9606:NRAP
uniprot id: A0A0A0MRM2
uniprot id: Q86VF7
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 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: Repeat
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 and isoform 3.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: LIM zinc-binding
up seq anno comments: Nebulin 1
up seq anno comments: Nebulin 10
up seq anno comments: Nebulin 11
up seq anno comments: Nebulin 12
up seq anno comments: Nebulin 13
up seq anno comments: Nebulin 14
up seq anno comments: Nebulin 15
up seq anno comments: Nebulin 16
up seq anno comments: Nebulin 17
up seq anno comments: Nebulin 18
up seq anno comments: Nebulin 19
up seq anno comments: Nebulin 2
up seq anno comments: Nebulin 20
up seq anno comments: Nebulin 21
up seq anno comments: Nebulin 22
up seq anno comments: Nebulin 23
up seq anno comments: Nebulin 24
up seq anno comments: Nebulin 25
up seq anno comments: Nebulin 26
up seq anno comments: Nebulin 27
up seq anno comments: Nebulin 28
up seq anno comments: Nebulin 29
up seq anno comments: Nebulin 3
up seq anno comments: Nebulin 30
up seq anno comments: Nebulin 31
up seq anno comments: Nebulin 32
up seq anno comments: Nebulin 33
up seq anno comments: Nebulin 34
up seq anno comments: Nebulin 35
up seq anno comments: Nebulin 36
up seq anno comments: Nebulin 37
up seq anno comments: Nebulin 38
up seq anno comments: Nebulin 39
up seq anno comments: Nebulin 4
up seq anno comments: Nebulin 40
up seq anno comments: Nebulin 41
up seq anno comments: Nebulin 42
up seq anno comments: Nebulin 43
up seq anno comments: Nebulin 44
up seq anno comments: Nebulin 5
up seq anno comments: Nebulin 6
up seq anno comments: Nebulin 7
up seq anno comments: Nebulin 8
up seq anno comments: Nebulin 9
up seq anno comments: Nebulin-related-anchoring protein
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000250425
up seq anno feature ids: VAR_027556
up seq anno feature ids: VAR_027557
up seq anno feature ids: VAR_027558
up seq anno feature ids: VAR_027559
up seq anno feature ids: VAR_027560
up seq anno feature ids: VAR_034073
up seq anno feature ids: VAR_034074
up seq anno feature ids: VAR_034075
up seq anno feature ids: VAR_034076
up seq anno feature ids: VAR_034077
up seq anno feature ids: VAR_034078
up seq anno feature ids: VAR_034079
up seq anno feature ids: VAR_034080

9606:LHX8
gene id: 9606:LHX8
uniprot id: Q68G74
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 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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Homeobox
up seq anno comments: In isoform 2.
up seq anno comments: LIM zinc-binding 1
up seq anno comments: LIM zinc-binding 2
up seq anno comments: LIM/homeobox protein Lhx8
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000295810
up seq anno feature ids: VSP_047378

9606:AP2A1
gene id: 9606:AP2A1
uniprot id: O95782
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: AP-2 complex subunit alpha-1
up seq anno comments: Basic and acidic residues
up seq anno comments: In isoform B.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000193730
up seq anno feature ids: VAR_060544
up seq anno feature ids: VSP_000161

9606:RAX
gene id: 9606:RAX
uniprot id: Q9Y2V3
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
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: Basic and acidic residues
up seq anno comments: Homeobox
up seq anno comments: In MCOP3; does not affect nuclear localization; reduces DNA binding activity.
up seq anno comments: In MCOP3; 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:ZNF45
gene id: 9606:ZNF45
uniprot id: Q02386
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 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 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
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 45
up seq anno feature ids: PRO_0000047378
up seq anno feature ids: VAR_012019
up seq anno feature ids: VAR_012020
up seq anno feature ids: VAR_012021
up seq anno feature ids: VAR_012022
up seq anno feature ids: VAR_012023

9606:C7
gene id: 9606:C7
uniprot id: P10643
uniprot id: Q05CI3
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: Secondary Structure
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: 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: 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: Complement component C7
up seq anno comments: Confirmed at protein level.
up seq anno comments: EGF-like
up seq anno comments: In C7D.
up seq anno comments: LDL-receptor class A
up seq anno comments: MACPF
up seq anno comments: N-linked (GlcNAc...) (complex) asparagine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: O-linked (GalNAc...) threonine
up seq anno comments: Polar residues
up seq anno comments: Sushi 1
up seq anno comments: Sushi 2
up seq anno comments: TSP type-1 1
up seq anno comments: TSP type-1 2
up seq anno feature ids: PRO_0000023583
up seq anno feature ids: PRO_5004164590
up seq anno feature ids: VAR_012643
up seq anno feature ids: VAR_012644
up seq anno feature ids: VAR_012645
up seq anno feature ids: VAR_012646
up seq anno feature ids: VAR_012647
up seq anno feature ids: VAR_022023
up seq anno feature ids: VAR_033798
up seq anno feature ids: VAR_033799
up seq anno feature ids: VAR_050480
up seq anno feature ids: VAR_081726

9606:DHDDS
gene id: 9606:DHDDS
uniprot id: Q86SQ9
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: Secondary Structure
up seq anno parent labels: 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: 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: Affects chain elongation resulting in shorter products.
up seq anno comments: Dehydrodolichyl diphosphate synthase complex subunit DHDDS
up seq anno comments: Delays cell growth; when associated with A-306 and A-313.
up seq anno comments: Delays cell growth; when associated with A-306 and A-317.
up seq anno comments: Delays cell growth; when associated with A-313 and A-317.
up seq anno comments: Found in a patient with progressive myoclonus epilepsy; unknown pathological significance.
up seq anno comments: In DEDSM; also found in a patient with progressive myoclonus epilepsy and developmental delay; unknown pathological significance.
up seq anno comments: In DEDSM; unknown pathological significance.
up seq anno comments: In RP59; 5-fold reduction in catalytic activity and reduced affinity for FPP but not for IPP..
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: Markedly decreases phosphatidylinositol-mediated activation of cis-prenyltransferase activity resulting in products with longer chain length; when associated with A-12 and A-15.
up seq anno comments: Markedly decreases phosphatidylinositol-mediated activation of cis-prenyltransferase activity resulting in products with longer chain length; when associated with A-12 and A-19.
up seq anno comments: Markedly decreases phosphatidylinositol-mediated activation of cis-prenyltransferase activity resulting in products with longer chain length; when associated with A-15 and A-19.
up seq anno feature ids: PRO_0000123749
up seq anno feature ids: VAR_028088
up seq anno feature ids: VAR_065356
up seq anno feature ids: VAR_080708
up seq anno feature ids: VAR_080709
up seq anno feature ids: VAR_085034
up seq anno feature ids: VAR_085035
up seq anno feature ids: VSP_010030
up seq anno feature ids: VSP_010031
up seq anno feature ids: VSP_045007

9606:RNASEH1
gene id: 9606:RNASEH1
uniprot id: B3KUD4
uniprot id: E5KN15
uniprot id: O60930
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: 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: 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: In PEOB2; has partial residual endonuclease activity.
up seq anno comments: RNase H type-1
up seq anno comments: Ribonuclease H1
up seq anno feature ids: PRO_0000195433
up seq anno feature ids: VAR_023469
up seq anno feature ids: VAR_074561
up seq anno feature ids: VAR_074562

9606:MTERF2
gene id: 9606:MTERF2
uniprot id: Q49AM1
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Mitochondrion
up seq anno comments: Transcription termination factor 2, mitochondrial
up seq anno feature ids: PRO_0000255464
up seq anno feature ids: VAR_034113
up seq anno feature ids: VAR_034114
up seq anno feature ids: VAR_053787
up seq anno feature ids: VAR_053788

9606:UNC93A
gene id: 9606:UNC93A
uniprot id: Q86WB7
up 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 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 isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Protein unc-93 homolog A
up seq anno feature ids: PRO_0000190036
up seq anno feature ids: VAR_022650
up seq anno feature ids: VAR_022651
up seq anno feature ids: VAR_022652
up seq anno feature ids: VAR_022653
up seq anno feature ids: VAR_022654
up seq anno feature ids: VAR_052473
up seq anno feature ids: VAR_052474
up seq anno feature ids: VAR_052475
up seq anno feature ids: VAR_059849
up seq anno feature ids: VAR_061874
up seq anno feature ids: VSP_042772

9606:CBLN4
gene id: 9606:CBLN4
uniprot id: Q9NTU7
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 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: C1q
up seq anno comments: Cerebellin-4
up seq anno comments: Interchain
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000003556

9606:CIAO3
gene id: 9606:CIAO3
uniprot id: Q9H6Q4
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: 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Cytosolic iron-sulfur assembly component 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_0000288485
up seq anno feature ids: VAR_053911
up seq anno feature ids: VAR_053912
up seq anno feature ids: VSP_025694
up seq anno feature ids: VSP_025695

9606:PDE2A
gene id: 9606:PDE2A
uniprot id: O00408
uniprot id: Q8IW54
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: Secondary Structure
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: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Lipid Binding
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: 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: 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:MRPL4
gene id: 9606:MRPL4
uniprot id: Q9BYD3
uniprot id: X6RAY8
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
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 labels: Turn
up seq anno comments: 39S ribosomal protein L4, mitochondrial
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_0000238949
up seq anno feature ids: VSP_019027
up seq anno feature ids: VSP_019028

9606:KTN1
gene id: 9606:KTN1
uniprot id: A0A024R663
uniprot id: Q86UP2
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 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: 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: 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: 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: Kinectin
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by FAM20C
up seq anno comments: Phosphothreonine
up seq anno comments: Rib_recp_KP_reg
up seq anno feature ids: PRO_0000084337
up seq anno feature ids: VAR_016206
up seq anno feature ids: VAR_035931
up seq anno feature ids: VAR_035932
up seq anno feature ids: VAR_079266
up seq anno feature ids: VSP_007981
up seq anno feature ids: VSP_007982
up seq anno feature ids: VSP_043207

9606:DOK6
gene id: 9606:DOK6
uniprot id: Q6PKX4
up seq anno parent labels: Experimental Information
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: Motif
up seq anno labels: Sequence Conflict
up seq anno comments: DKFBH motif
up seq anno comments: Docking protein 6
up seq anno comments: IRS-type PTB
up seq anno comments: PH
up seq anno feature ids: PRO_0000187279

9606:ANKRD45
gene id: 9606:ANKRD45
uniprot id: Q5TZF3
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Repeat
up seq anno labels: Splice Variant
up seq anno comments: ANK 1
up seq anno comments: ANK 2
up seq anno comments: Acidic residues
up seq anno comments: Ankyrin repeat domain-containing protein 45
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000244574
up seq anno feature ids: VSP_059723

9606:SRD5A2
gene id: 9606:SRD5A2
uniprot id: P31213
up 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 labels: Chain
up seq anno labels: Helix
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: 3-oxo-5-alpha-steroid 4-dehydrogenase 2
up seq anno comments: Helical
up seq anno comments: In PPSH.
up seq anno comments: In PPSH; also in individuals with micropenis; increased affinity for testosterone; increased affinity for NADPH; decreased Vmax.
up seq anno comments: Increased affinity for testosterone; increased affinity for NADPH; decreased Vmax.
up seq anno comments: Increased affinity for testosterone; increased affinity for NADPH; decreased Vmax; no effect on affinity for testosterone when associated with L-89; increased affinity for NADPH when associated with L-89; decreased Vmax when associated with L-89.
up seq anno comments: Increased affinity for testosterone; no effect on affinity for NADPH; increased Vmax; no effect on affinity for testosterone when associated with L-89; no effect on affinity for NADPH when associated with L-89; increased Vmax when associated with L-89.
up seq anno comments: No effect on affinity for testosterone; increased affinity for NADPH; decreased Vmax.
up seq anno comments: No effect on affinity for testosterone; increased affinity for NADPH; decreased Vmax; decreased affinity for testosterone when associated with L-89; increased affinity for NADPH when associated with L-89; decreased Vmax when associated with L-89.
up seq anno comments: No effect on affinity for testosterone; increased affinity for NADPH; increased Vmax.
up seq anno comments: No effect on affinity for testosterone; no effect on affinity for NADPH; decreased Vmax; no effect on affinity for testosterone when associated with T-49; no effect on affinity for NADPH when associated with T-49; increased Vmax when associated with T-49; decreased affinity for testosterone when associated with M-187; increased affinity for NADPH when associated with M-187; decreased Vmax when associated with M-187; no effect on affinity for testosterone when associated with L-234; increased affinity for NADPH when associated with L-234; decreased Vmax when associated with L-234.
up seq anno comments: No effect on affinity for testosterone; no effect on affinity for NADPH; no effect on Vmax.
up seq anno feature ids: PRO_0000213676
up seq anno feature ids: VAR_005609
up seq anno feature ids: VAR_013104
up seq anno feature ids: VAR_013105
up seq anno feature ids: VAR_013106
up seq anno feature ids: VAR_013107
up seq anno feature ids: VAR_013108
up seq anno feature ids: VAR_013109
up seq anno feature ids: VAR_013110
up seq anno feature ids: VAR_013111
up seq anno feature ids: VAR_013112
up seq anno feature ids: VAR_013113
up seq anno feature ids: VAR_013130
up seq anno feature ids: VAR_013131
up seq anno feature ids: VAR_013132
up seq anno feature ids: VAR_013133
up seq anno feature ids: VAR_013134
up seq anno feature ids: VAR_022302
up seq anno feature ids: VAR_025851
up seq anno feature ids: VAR_025852
up seq anno feature ids: VAR_025853
up seq anno feature ids: VAR_025854
up seq anno feature ids: VAR_025855
up seq anno feature ids: VAR_025856
up seq anno feature ids: VAR_025857
up seq anno feature ids: VAR_037585
up seq anno feature ids: VAR_037586
up seq anno feature ids: VAR_059791
up seq anno feature ids: VAR_059792
up seq anno feature ids: VAR_077546
up seq anno feature ids: VAR_077547
up seq anno feature ids: VAR_077548
up seq anno feature ids: VAR_077549
up seq anno feature ids: VAR_077550
up seq anno feature ids: VAR_077551
up seq anno feature ids: VAR_077552

9606:TGM2
gene id: 9606:TGM2
uniprot id: B4DIT7
uniprot id: B4DTN7
uniprot id: P21980
uniprot id: V9HWG3
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: Secondary Structure
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: 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: 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: Abolished isopeptidase activity and reduced transamidase activity.
up seq anno comments: Abolished isopeptidase and transamidase activities.
up seq anno comments: Abolished protein-glutamine gamma-glutamyltransferase activity without affecting alpha-1 adrenergic receptor signaling. Abolished isopeptidase activity.
up seq anno comments: Abolished protein-glutamine gamma-glutamyltransferase activity without affecting cytotoxic activity.
up seq anno comments: Abolishes GTP-binding and transglutaminase activities. Does not have cytotoxic activity when overexpressed.
up seq anno comments: Alternate
up seq anno comments: Displays lower Ca(2+)-binding affinity and reduced transglutaminase activity.
up seq anno comments: Does not affect the protein-glutamine deamidase activity.
up seq anno comments: Dominant negative mutant. Abolishes WDR54 cross-linking.
up seq anno comments: Impaired Ca(2+)-binding leading to reduced transglutaminase activity.
up seq anno comments: Impaired substrate recognition for the protein-glutamine deamidase activity.
up seq anno comments: In TG2-I; strongly reduced transamidase activity without affecting the isopeptidase activity.
up seq anno comments: In TG2-T; strongly reduced isopeptidase activity without affecting the transamidase activity.
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 patients with early-onset diabetes type 2; unknown pathological significance.
up seq anno comments: Isoglutamyl lysine isopeptide (Gln-Lys) (interchain with K-?)
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: No effect on isopeptidase and transamidase activities.
up seq anno comments: Phosphoserine
up seq anno comments: Protein-glutamine gamma-glutamyltransferase 2
up seq anno comments: Reduced isopeptidase and transamidase activities.
up seq anno comments: Removed
up seq anno comments: Substitution with F13A1 sequence. Abolished interaction with phospholipase C and ability to promote alpha-1 adrenergic receptor signaling.
up seq anno comments: TGc
up seq anno feature ids: PRO_0000213707
up seq anno feature ids: VAR_036554
up seq anno feature ids: VAR_037998
up seq anno feature ids: VAR_037999
up seq anno feature ids: VAR_052553
up seq anno feature ids: VAR_052554
up seq anno feature ids: VAR_055357
up seq anno feature ids: VAR_055358
up seq anno feature ids: VAR_055359
up seq anno feature ids: VSP_006411
up seq anno feature ids: VSP_006412
up seq anno feature ids: VSP_006413
up seq anno feature ids: VSP_006414

9606:NXPH2
gene id: 9606:NXPH2
uniprot id: O95156
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
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: N-linked (GlcNAc...) asparagine
up seq anno comments: Neurexophilin-2
up seq anno feature ids: PRO_0000020063

9606:SPEF1
gene id: 9606:SPEF1
uniprot id: Q9Y4P9
up 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 labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Splice Variant
up seq anno labels: Turn
up seq anno comments: Calponin-homology (CH)
up seq anno comments: In isoform 2.
up seq anno comments: Sperm flagellar protein 1
up seq anno feature ids: PRO_0000079421
up seq anno feature ids: VSP_017219
up seq anno feature ids: VSP_017220

9606:HINT3
gene id: 9606:HINT3
uniprot id: Q9NQE9
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: 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: Initiator Methionine
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 comments: 2.5-fold increase in affinity for indolepropinoic acyl-adenylate and cytosine; 2-fold decrease in hypoxanthine affinity; nearly no change in affinity for adenine, guanine and uracil.
up seq anno comments: Abolishes adenosine 5'-monophosphoramidase activity.
up seq anno comments: Adenosine 5'-monophosphoramidase HINT3
up seq anno comments: HIT
up seq anno comments: Histidine triad motif
up seq anno comments: N-acetylalanine
up seq anno comments: Removed
up seq anno comments: Tele-AMP-histidine intermediate
up seq anno feature ids: PRO_0000324327
up seq anno feature ids: VAR_039734

9606:METTL24
gene id: 9606:METTL24
uniprot id: Q5JXM2
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Pro residues
up seq anno comments: Probable methyltransferase-like protein 24
up seq anno feature ids: PRO_0000343743
up seq anno feature ids: VAR_044502

9606:IL2RB
gene id: 9606:IL2RB
uniprot id: P14784
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: Secondary Structure
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: 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: 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:MTARC1
gene id: 9606:MTARC1
uniprot id: Q5VT66
up 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: 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: 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: 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:DBX1
gene id: 9606:DBX1
uniprot id: A6NMT0
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 comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Homeobox
up seq anno comments: Homeobox protein DBX1
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000302843

9606:PRKCH
gene id: 9606:PRKCH
uniprot id: P24723
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: Secondary Structure
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: 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 labels: Zinc Finger
up seq anno comments: AGC-kinase C-terminal
up seq anno comments: Associated with susceptibility to ischemic stroke; increases autophosphorylation and kinase activity.
up seq anno comments: C2
up seq anno comments: In a aLL TEL/AML1+ sample; somatic mutation.
up seq anno comments: In a colorectal adenocarcinoma sample; somatic mutation.
up seq anno comments: In isoform 2.
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: Phosphoserine; by autocatalysis
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by PDPK1
up seq anno comments: Protein kinase
up seq anno comments: Protein kinase C eta type
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000055705
up seq anno feature ids: VAR_034604
up seq anno feature ids: VAR_042312
up seq anno feature ids: VAR_042313
up seq anno feature ids: VAR_042314
up seq anno feature ids: VAR_042315
up seq anno feature ids: VAR_042316
up seq anno feature ids: VAR_042317
up seq anno feature ids: VAR_042318
up seq anno feature ids: VAR_042438
up seq anno feature ids: VAR_060736
up seq anno feature ids: VSP_056572

9606:PTPN23
gene id: 9606:PTPN23
uniprot id: B4DST5
uniprot id: Q9H3S7
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: Secondary Structure
up seq anno parent labels: Site
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: 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: 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: 6
up seq anno comments: Abolishes interaction with CHMP4B; when associated with D-202.
up seq anno comments: Abolishes interaction with UBAP1.
up seq anno comments: BRO1
up seq anno comments: Basic and acidic residues
up seq anno comments: In NEDBASS.
up seq anno comments: In NEDBASS; unknown pathological significance.
up seq anno comments: In NEDBASS; when associated in cis with H-1017; unknown pathological significance.
up seq anno comments: In NEDBASS; when associated in cis with R-583; unknown pathological significance.
up seq anno comments: Nearly abolishes interaction with CHMP4B. Abolishes interaction with CHMP4B; when associated with D-206.
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphocysteine intermediate
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: TPR 1
up seq anno comments: TPR 2
up seq anno comments: TYR_PHOSPHATASE_2
up seq anno comments: Tyrosine-protein phosphatase
up seq anno comments: Tyrosine-protein phosphatase non-receptor type 23
up seq anno feature ids: PRO_0000094777
up seq anno feature ids: VAR_022682
up seq anno feature ids: VAR_022683
up seq anno feature ids: VAR_084289
up seq anno feature ids: VAR_084290
up seq anno feature ids: VAR_084291
up seq anno feature ids: VAR_084292
up seq anno feature ids: VAR_084293
up seq anno feature ids: VAR_084294
up seq anno feature ids: VAR_084295
up seq anno feature ids: VAR_084296
up seq anno feature ids: VAR_084297
up seq anno feature ids: VAR_084298
up seq anno feature ids: VAR_084299
up seq anno feature ids: VAR_084300
up seq anno feature ids: VAR_084301
up seq anno feature ids: VAR_084302
up seq anno feature ids: VAR_084303
up seq anno feature ids: VAR_084304

9606:SUSD5
gene id: 9606:SUSD5
uniprot id: O60279
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 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: 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: Extracellular
up seq anno comments: Helical
up seq anno comments: Link
up seq anno comments: Sushi
up seq anno comments: Sushi domain-containing protein 5
up seq anno feature ids: PRO_0000274247
up seq anno feature ids: VAR_030217
up seq anno feature ids: VAR_030218
up seq anno feature ids: VAR_051391
up seq anno feature ids: VAR_051392
up seq anno feature ids: VAR_051393

9606:ZGRF1
gene id: 9606:ZGRF1
uniprot id: Q86YA3
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: 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: 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: Basic and acidic residues
up seq anno comments: GRF-type
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: In isoform 7.
up seq anno comments: Phosphoserine
up seq anno comments: Protein ZGRF1
up seq anno feature ids: PRO_0000286626
up seq anno feature ids: VAR_032147
up seq anno feature ids: VAR_032148
up seq anno feature ids: VAR_032149
up seq anno feature ids: VAR_037862
up seq anno feature ids: VAR_037863
up seq anno feature ids: VAR_037864
up seq anno feature ids: VSP_053232
up seq anno feature ids: VSP_053233
up seq anno feature ids: VSP_053234
up seq anno feature ids: VSP_053235
up seq anno feature ids: VSP_053236
up seq anno feature ids: VSP_053237
up seq anno feature ids: VSP_053238
up seq anno feature ids: VSP_053239
up seq anno feature ids: VSP_053240
up seq anno feature ids: VSP_053241
up seq anno feature ids: VSP_053242
up seq anno feature ids: VSP_053243
up seq anno feature ids: VSP_053244

9606:PCCB
gene id: 9606:PCCB
uniprot id: P05166
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 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: CoA carboxyltransferase C-terminal
up seq anno comments: CoA carboxyltransferase N-terminal
up seq anno comments: Found in patients with propionic acidemia; does not affect either heteromeric or homomeric assembly; decreased thermostability affecting holoenzyme oligomerization; no effect on propionyl-CoA carboxylase activity.
up seq anno comments: In PA-2.
up seq anno comments: In PA-2; affects heteromeric and homomeric assembly.
up seq anno comments: In PA-2; does not affect either heteromeric or homomeric assembly.
up seq anno comments: In PA-2; likely benign variant.
up seq anno comments: In PA-2; no effect on affinity for propionyl-CoA; decreased reaction kinetics for the propionyl-CoA carboxylase activity; decreased thermostability affecting holoenzyme oligomerization.
up seq anno comments: In isoform 2.
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 comments: Propionyl-CoA carboxylase beta chain, mitochondrial
up seq anno feature ids: PRO_0000000293
up seq anno feature ids: VAR_000271
up seq anno feature ids: VAR_000272
up seq anno feature ids: VAR_000273
up seq anno feature ids: VAR_000274
up seq anno feature ids: VAR_000275
up seq anno feature ids: VAR_000276
up seq anno feature ids: VAR_000277
up seq anno feature ids: VAR_000278
up seq anno feature ids: VAR_000279
up seq anno feature ids: VAR_000280
up seq anno feature ids: VAR_000281
up seq anno feature ids: VAR_009080
up seq anno feature ids: VAR_009081
up seq anno feature ids: VAR_009082
up seq anno feature ids: VAR_009083
up seq anno feature ids: VAR_009084
up seq anno feature ids: VAR_009085
up seq anno feature ids: VAR_009086
up seq anno feature ids: VAR_023847
up seq anno feature ids: VAR_023848
up seq anno feature ids: VAR_023849
up seq anno feature ids: VAR_023850
up seq anno feature ids: VAR_023851
up seq anno feature ids: VAR_023852
up seq anno feature ids: VAR_023853
up seq anno feature ids: VAR_023854
up seq anno feature ids: VAR_023855
up seq anno feature ids: VAR_023856
up seq anno feature ids: VAR_023857
up seq anno feature ids: VAR_023858
up seq anno feature ids: VAR_048163
up seq anno feature ids: VSP_042568

9606:TRMU
gene id: 9606:TRMU
uniprot id: O75648
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: 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: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Acts as a disease modifier in patients with aminoglycoside-induced deafness and a mutation in mitochondrial 12S rRNA; affects tRNA processing by decreasing thiolation and increasing aminoacylation of tRNAs; the mutant has lower thermal stability than wild-type; does not affect import in the mitochondria.
up seq anno comments: Cysteine persulfide intermediate
up seq anno comments: In LFIT.
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: Loss of activity.
up seq anno comments: Mitochondrial tRNA-specific 2-thiouridylase 1
up seq anno comments: Nucleophile
up seq anno feature ids: PRO_0000121708
up seq anno feature ids: VAR_027268
up seq anno feature ids: VAR_046380
up seq anno feature ids: VAR_046381
up seq anno feature ids: VAR_046382
up seq anno feature ids: VAR_063428
up seq anno feature ids: VAR_063429
up seq anno feature ids: VAR_063430
up seq anno feature ids: VAR_063431
up seq anno feature ids: VSP_035391
up seq anno feature ids: VSP_035392
up seq anno feature ids: VSP_035393
up seq anno feature ids: VSP_035394
up seq anno feature ids: VSP_035395

9606:GYPE
gene id: 9606:GYPE
uniprot id: P15421
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
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: Glycophorin-E
up seq anno comments: Helical
up seq anno feature ids: PRO_0000012138
up seq anno feature ids: VAR_053111
up seq anno feature ids: VAR_062006

9606:RNF19A
gene id: 9606:RNF19A
uniprot id: Q9NV58
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: 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: 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 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: 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: 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 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:CNNM3
gene id: 9606:CNNM3
uniprot id: Q8NE01
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: Secondary Structure
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: 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: 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:CAPNS2
gene id: 9606:CAPNS2
uniprot id: Q96L46
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: 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: Calpain small subunit 2
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_0000073718

9606:ETV6
gene id: 9606:ETV6
uniprot id: A0A0S2Z3C9
uniprot id: P41212
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: Secondary Structure
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: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: ETS
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 THC5; abrogates DNA binding; alters subcellular location; decreases transcriptional repression in a dominant-negative fashion.
up seq anno comments: In one individual with AML; somatic mutation; unable to repress transcription.
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: No effect.
up seq anno comments: No phosphorylation by MAPK14.
up seq anno comments: PNT
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by MAPK14
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Transcription factor ETV6
up seq anno feature ids: PRO_0000204121
up seq anno feature ids: VAR_034600
up seq anno feature ids: VAR_073322
up seq anno feature ids: VAR_073323
up seq anno feature ids: VAR_073324

9606:NOS1
gene id: 9606:NOS1
uniprot id: A0PJJ7
uniprot id: B3VK56
uniprot id: B4DG68
uniprot id: P29475
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: Secondary Structure
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: Helix
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 labels: Strand
up seq anno labels: Turn
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: Nitric oxide synthase, brain
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:C11orf68
gene id: 9606:C11orf68
uniprot id: Q9H3H3
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Basic and acidic residues
up seq anno comments: In isoform 1.
up seq anno comments: In isoform 3.
up seq anno comments: Omega-N-methylarginine
up seq anno comments: UPF0696 protein C11orf68
up seq anno feature ids: PRO_0000228117
up seq anno feature ids: VAR_060319
up seq anno feature ids: VSP_059970
up seq anno feature ids: VSP_059971

9606:CDCP2
gene id: 9606:CDCP2
uniprot id: Q5VXM1
up 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 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: CUB 1
up seq anno comments: CUB 2
up seq anno comments: CUB 3
up seq anno comments: CUB domain-containing protein 2
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000305071
up seq anno feature ids: VAR_035162
up seq anno feature ids: VSP_028212
up seq anno feature ids: VSP_028213

9606:OR6C65
gene id: 9606:OR6C65
uniprot id: A0A126GW71
uniprot id: A6NJZ3
up 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 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_RECEP_F1_2
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 6C65
up seq anno feature ids: PRO_0000310466
up seq anno feature ids: VAR_037049
up seq anno feature ids: VAR_037050

9606:SLC22A16
gene id: 9606:SLC22A16
uniprot id: A0A0K0K1K9
uniprot id: Q86VW1
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 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: 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: In isoform 3.
up seq anno comments: MFS
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: Solute carrier family 22 member 16
up seq anno feature ids: PRO_0000318991
up seq anno feature ids: VAR_038930
up seq anno feature ids: VAR_038931
up seq anno feature ids: VAR_038932
up seq anno feature ids: VAR_038933
up seq anno feature ids: VSP_031336
up seq anno feature ids: VSP_031337
up seq anno feature ids: VSP_031338

9606:SEC24A
gene id: 9606:SEC24A
uniprot id: B4E205
uniprot id: O95486
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: 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: 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 SNARE SEC22B cargo into COPII vesicles. Has no effect on other cargos packaging.
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_BS
up seq anno comments: Sec23_helical
up seq anno comments: Sec23_trunk
up seq anno comments: zf-Sec23_Sec24
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:SLC37A4
gene id: 9606:SLC37A4
uniprot id: A0A024R3H9
uniprot id: A0A024R3L1
uniprot id: A8K0S7
uniprot id: B4DUH2
uniprot id: O43826
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 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: MFS
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:GLYATL1
gene id: 9606:GLYATL1
uniprot id: A0A8I5KVG3
uniprot id: A9ZM15
uniprot id: Q969I3
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Splice Variant
up seq anno comments: Gly_acyl_tr_C
up seq anno comments: Gly_acyl_tr_N
up seq anno comments: Glycine N-acyltransferase-like protein 1
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000281874
up seq anno feature ids: VSP_024076

9606:PAFAH1B2
gene id: 9606:PAFAH1B2
uniprot id: P68402
uniprot id: V9HW44
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: Secondary Structure
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: 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: In isoform 4.
up seq anno comments: N-acetylserine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Platelet-activating factor acetylhydrolase IB subunit alpha2
up seq anno comments: Removed
up seq anno comments: SGNH_hydro
up seq anno feature ids: PRO_0000058151
up seq anno feature ids: VSP_042896
up seq anno feature ids: VSP_043217
up seq anno feature ids: VSP_044680

9606:WDR44
gene id: 9606:WDR44
uniprot id: B7Z947
uniprot id: Q5JSH3
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 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: 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: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
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: Pro 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 44
up seq anno feature ids: PRO_0000262769
up seq anno feature ids: VAR_029538
up seq anno feature ids: VAR_029539
up seq anno feature ids: VSP_021807
up seq anno feature ids: VSP_021808
up seq anno feature ids: VSP_021809
up seq anno feature ids: VSP_021810
up seq anno feature ids: VSP_046637
up seq anno feature ids: VSP_046638

9606:KRTAP13-1
gene id: 9606:KRTAP13-1
uniprot id: Q8IUC0
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
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: Keratin-associated protein 13-1
up seq anno feature ids: PRO_0000185200

9606:ANO3
gene id: 9606:ANO3
uniprot id: A0A5F9ZHL6
uniprot id: B7Z9B9
uniprot id: Q9BYT9
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 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: Anoct_dimer
up seq anno comments: Anoctamin-3
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In DYT24.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000072565
up seq anno feature ids: VAR_057287
up seq anno feature ids: VAR_069732
up seq anno feature ids: VAR_069733
up seq anno feature ids: VAR_069734
up seq anno feature ids: VAR_069735
up seq anno feature ids: VSP_056893

9606:CD44
gene id: 9606:CD44
uniprot id: P16070
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: Secondary Structure
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: 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: CD44 antigen
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In In(A) antigen.
up seq anno comments: In isoform 10, isoform 13 and isoform 14.
up seq anno comments: In isoform 11.
up seq anno comments: In isoform 12, isoform 15 and isoform 18.
up seq anno comments: In isoform 18.
up seq anno comments: In isoform 19.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3 and isoform 16.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5 and isoform 17.
up seq anno comments: In isoform 6, isoform 16 and isoform 17.
up seq anno comments: In isoform 7 and isoform 14.
up seq anno comments: In isoform 8, isoform 13 and isoform 14.
up seq anno comments: In isoform 9 and isoform 15.
up seq anno comments: Link
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PKC
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000026687
up seq anno feature ids: VAR_006490
up seq anno feature ids: VAR_021147
up seq anno feature ids: VAR_030325
up seq anno feature ids: VAR_030326
up seq anno feature ids: VAR_030327
up seq anno feature ids: VSP_005303
up seq anno feature ids: VSP_005304
up seq anno feature ids: VSP_005305
up seq anno feature ids: VSP_005306
up seq anno feature ids: VSP_005307
up seq anno feature ids: VSP_005308
up seq anno feature ids: VSP_005309
up seq anno feature ids: VSP_005310
up seq anno feature ids: VSP_005311
up seq anno feature ids: VSP_005312
up seq anno feature ids: VSP_005313
up seq anno feature ids: VSP_005314
up seq anno feature ids: VSP_005315
up seq anno feature ids: VSP_005316
up seq anno feature ids: VSP_005317
up seq anno feature ids: VSP_005318
up seq anno feature ids: VSP_005319
up seq anno feature ids: VSP_005320
up seq anno feature ids: VSP_005321
up seq anno feature ids: VSP_022797
up seq anno feature ids: VSP_043575
up seq anno feature ids: VSP_043870
up seq anno feature ids: VSP_043871

9606:H2AB3
gene id: 9606:H2AB3
uniprot id: P0C5Z0
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: Strand
up seq anno comments: Histone H2A-Bbd type 2/3
up seq anno feature ids: PRO_0000055321

9606:KREMEN2
gene id: 9606:KREMEN2
uniprot id: Q53F67
uniprot id: Q8NCW0
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 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: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: CUB
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 and isoform 6.
up seq anno comments: In isoform 6.
up seq anno comments: Kremen protein 2
up seq anno comments: Kringle
up seq anno comments: Kringle-containing protein marking the eye and the nose
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: WSC
up seq anno feature ids: PRO_0000021568
up seq anno feature ids: PRO_5004248768
up seq anno feature ids: VAR_059691
up seq anno feature ids: VSP_046399
up seq anno feature ids: VSP_047386
up seq anno feature ids: VSP_050509
up seq anno feature ids: VSP_050510
up seq anno feature ids: VSP_050511
up seq anno feature ids: VSP_050512
up seq anno feature ids: VSP_050513
up seq anno feature ids: VSP_050514

9606:EGFLAM
gene id: 9606:EGFLAM
uniprot id: Q63HQ2
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 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: EGF-like 1
up seq anno comments: EGF-like 2
up seq anno comments: EGF-like 3
up seq anno comments: Fibronectin type-III 1
up seq anno comments: Fibronectin type-III 2
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: In isoform 5.
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: N-linked (GlcNAc...) asparagine
up seq anno comments: Pikachurin
up seq anno feature ids: PRO_0000306803
up seq anno feature ids: VAR_035302
up seq anno feature ids: VAR_035303
up seq anno feature ids: VAR_035304
up seq anno feature ids: VAR_035305
up seq anno feature ids: VAR_055718
up seq anno feature ids: VAR_055719
up seq anno feature ids: VSP_028475
up seq anno feature ids: VSP_028476
up seq anno feature ids: VSP_028477
up seq anno feature ids: VSP_028478
up seq anno feature ids: VSP_028481

9606:MAP2K5
gene id: 9606:MAP2K5
uniprot id: A0A024R5X5
uniprot id: A0A024R5Y2
uniprot id: Q13163
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: Secondary Structure
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: 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: 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: 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:NACC2
gene id: 9606:NACC2
uniprot id: A0A024R8I0
uniprot id: Q96BF6
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 comments: BEN
up seq anno comments: BTB
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Nucleus accumbens-associated protein 2
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000263668

9606:FCN1
gene id: 9606:FCN1
uniprot id: O00602
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: Secondary Structure
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: 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: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes interaction with all sialic acid-containing glycans.
up seq anno comments: Collagen-like
up seq anno comments: Fibrinogen C-terminal
up seq anno comments: Ficolin-1
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: Inhibits binding to the 9-O-acetylated sialic acid derivatives.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000009136
up seq anno feature ids: VAR_024450
up seq anno feature ids: VAR_036341
up seq anno feature ids: VAR_061172

9606:ACKR2
gene id: 9606:ACKR2
uniprot id: A1LP82
uniprot id: O00590
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 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: Atypical chemokine receptor 2
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G_PROTEIN_RECEP_F1_2
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 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:ST3GAL5
gene id: 9606:ST3GAL5
uniprot id: A0A0S2Z4Q7
uniprot id: Q9UNP4
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 labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Non-terminal 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: 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: Lactosylceramide alpha-2,3-sialyltransferase
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000149302
up seq anno feature ids: VAR_025510
up seq anno feature ids: VSP_033686
up seq anno feature ids: VSP_033687
up seq anno feature ids: VSP_033688

9606:NADK
gene id: 9606:NADK
uniprot id: O95544
uniprot id: Q6PJ22
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: Secondary Structure
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: 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: NAD kinase
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000120713
up seq anno feature ids: VAR_034119
up seq anno feature ids: VSP_047312
up seq anno feature ids: VSP_047313
up seq anno feature ids: VSP_047314

9606:TIMELESS
gene id: 9606:TIMELESS
uniprot id: Q9UNS1
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: Secondary Structure
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: 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: In a breast cancer sample; somatic mutation.
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 timeless homolog
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: VSP_051693

9606:PTPRK
gene id: 9606:PTPRK
uniprot id: B4DHC3
uniprot id: Q15262
uniprot id: Q59EZ1
uniprot id: Q86WJ2
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: Secondary Structure
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: 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 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: 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: Helical
up seq anno comments: Ig-like
up seq anno comments: Ig-like C2-type
up seq anno comments: In isoform 2, isoform 3 and isoform 4.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: In isoform 4.
up seq anno comments: MAM
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphocysteine intermediate
up seq anno comments: Phosphoserine
up seq anno comments: Receptor-type tyrosine-protein phosphatase kappa
up seq anno comments: TYR_PHOSPHATASE_2
up seq anno comments: Tyrosine-protein phosphatase
up seq anno comments: Tyrosine-protein phosphatase 1
up seq anno comments: Tyrosine-protein phosphatase 2
up seq anno comments: protein-tyrosine-phosphatase
up seq anno feature ids: PRO_0000025446
up seq anno feature ids: PRO_5002803003
up seq anno feature ids: PRO_5004304137
up seq anno feature ids: VSP_024819
up seq anno feature ids: VSP_042049
up seq anno feature ids: VSP_054480

9606:SIT1
gene id: 9606:SIT1
uniprot id: Q9Y3P8
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 labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Signal Peptide
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Abolishes glycosylation.
up seq anno comments: Abolishes interaction with CSK and impairs inhibition of NF-AT activation.
up seq anno comments: Cytoplasmic
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: No effect on interaction with PTPN11 or GRB2.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Reduces interaction with GRB2. Abolishes interaction with GRB2; when associated with F-188.
up seq anno comments: Reduces interaction with GRB2. Abolishes interaction with GRB2; when associated with F-90.
up seq anno comments: Reduces interaction with PTPN11, no effect on inhibition of NF-AT activation.
up seq anno comments: Signaling threshold-regulating transmembrane adapter 1
up seq anno feature ids: PRO_0000045152

9606:MEFV
gene id: 9606:MEFV
uniprot id: D2DTW2
uniprot id: O15553
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: 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: 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: 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: Does not form MEFV- and PSTPIP1-containing perinuclear specks.
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 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; 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 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: 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 feature ids: PRO_0000220364
up seq anno feature ids: VAR_009051
up seq anno feature ids: VAR_009052
up seq anno feature ids: VAR_009053
up seq anno feature ids: VAR_009054
up seq anno feature ids: VAR_009055
up seq anno feature ids: VAR_009056
up seq anno feature ids: VAR_009057
up seq anno feature ids: VAR_009059
up seq anno feature ids: VAR_009060
up seq anno feature ids: VAR_009061
up seq anno feature ids: VAR_009062
up seq anno feature ids: VAR_009063
up seq anno feature ids: VAR_009064
up seq anno feature ids: VAR_009065
up seq anno feature ids: VAR_009066
up seq anno feature ids: VAR_009067
up seq anno feature ids: VAR_016824
up seq anno feature ids: VAR_016826
up seq anno feature ids: VAR_016827
up seq anno feature ids: VAR_016828

9606:RIOX2
gene id: 9606:RIOX2
uniprot id: A0A6M8YDW1
uniprot id: Q8IUF8
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: Secondary Structure
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: 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: Abolishes demethylase 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: JmjC
up seq anno comments: Phosphoserine
up seq anno comments: Ribosomal oxygenase 2
up seq anno feature ids: PRO_0000308377
up seq anno feature ids: VAR_036811
up seq anno feature ids: VAR_054079
up seq anno feature ids: VAR_062241
up seq anno feature ids: VSP_038373
up seq anno feature ids: VSP_052587
up seq anno feature ids: VSP_052588
up seq anno feature ids: VSP_052589
up seq anno feature ids: VSP_052590

9606:SNX6
gene id: 9606:SNX6
uniprot id: A0A0A0MRI2
uniprot id: Q9UNH7
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: 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: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Splice Variant
up seq anno comments: BAR
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylmethionine
up seq anno comments: N-acetylmethionine; in Sorting nexin-6, N-terminally processed
up seq anno comments: No effect on subcellular location.
up seq anno comments: PX
up seq anno comments: Phosphoserine
up seq anno comments: Reduces interaction with SNX1. Abolishes location at endosome membranes.
up seq anno comments: Removed; alternate
up seq anno comments: Sorting nexin-6
up seq anno comments: Sorting nexin-6, N-terminally processed
up seq anno feature ids: PRO_0000213846
up seq anno feature ids: PRO_0000423277
up seq anno feature ids: VSP_044824

9606:CORIN
gene id: 9606:CORIN
uniprot id: A0A087X1D5
uniprot id: B4E1Y7
uniprot id: B4E2W9
uniprot id: J3KR83
uniprot id: Q9Y5Q5
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: Site
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: 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: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Affects autocatalytic cleavage and production of Atrial natriuretic peptide-converting enzyme, 100 kDa soluble fragment.
up seq anno comments: Affects autocatalytic cleavage and production of Atrial natriuretic peptide-converting enzyme, 160 kDa soluble fragment.
up seq anno comments: Atrial natriuretic peptide-converting enzyme
up seq anno comments: Atrial natriuretic peptide-converting enzyme, 100 kDa soluble fragment
up seq anno comments: Atrial natriuretic peptide-converting enzyme, 160 kDa soluble fragment
up seq anno comments: Atrial natriuretic peptide-converting enzyme, 180 kDa soluble fragment
up seq anno comments: Atrial natriuretic peptide-converting enzyme, N-terminal propeptide
up seq anno comments: Atrial natriuretic peptide-converting enzyme, activated protease fragment
up seq anno comments: Basic and acidic residues
up seq anno comments: Charge relay system
up seq anno comments: Cytoplasmic
up seq anno comments: DDNN motif
up seq anno comments: Does not affect autocatalytic cleavage.
up seq anno comments: Extracellular
up seq anno comments: FZ
up seq anno comments: FZ 1
up seq anno comments: FZ 2
up seq anno comments: Helical
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: Impairs cell membrane targeting; when associated with A-26.
up seq anno comments: Impairs cell membrane targeting; when associated with A-30.
up seq anno comments: In PEE5.
up seq anno comments: In isoform 2.
up seq anno comments: Interchain (between N-terminal propeptide and activated protease fragment chains)
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: LDL-receptor class A 5
up seq anno comments: LDL-receptor class A 6
up seq anno comments: LDL-receptor class A 7
up seq anno comments: Loss of activity towards NPPA.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Peptidase S1
up seq anno comments: SRCR
up seq anno feature ids: PRO_0000088673
up seq anno feature ids: PRO_0000391765
up seq anno feature ids: PRO_0000391766
up seq anno feature ids: PRO_0000417984
up seq anno feature ids: PRO_0000417985
up seq anno feature ids: PRO_0000417986
up seq anno feature ids: VAR_038000
up seq anno feature ids: VAR_038001
up seq anno feature ids: VAR_067795
up seq anno feature ids: VAR_067796
up seq anno feature ids: VAR_067797
up seq anno feature ids: VSP_043952

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: 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: 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: 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: Transmembrane
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: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: GPS
up seq anno comments: G_PROTEIN_RECEP_F2_4
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
up seq anno feature ids: PRO_0000423087
up seq anno feature ids: PRO_5002788638
up seq anno feature ids: PRO_5002790061
up seq anno feature ids: PRO_5014214261
up seq anno feature ids: PRO_5014239287
up seq anno feature ids: VAR_017910
up seq anno feature ids: VAR_017911
up seq anno feature ids: VAR_026242
up seq anno feature ids: VAR_026243
up seq anno feature ids: VAR_026244
up seq anno feature ids: VAR_026245
up seq anno feature ids: VAR_026246
up seq anno feature ids: VAR_049457
up seq anno feature ids: VAR_049458
up seq anno feature ids: VAR_069581
up seq anno feature ids: VAR_069582
up seq anno feature ids: VAR_069583
up seq anno feature ids: VAR_069584
up seq anno feature ids: VSP_035068
up seq anno feature ids: VSP_047554
up seq anno feature ids: VSP_047555
up seq anno feature ids: VSP_047556

9606:UCHL3
gene id: 9606:UCHL3
uniprot id: A0A087WTB8
uniprot id: A0A140VJZ4
uniprot id: P15374
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: Site
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: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes enzymatic activity. Increased interaction with diubiquitin.
up seq anno comments: Decreased interaction with diubiquitin. No accumulation of free diubiquitin. Decreased levels of polyubiquitinated lysozyme.
up seq anno comments: Increased interaction with diubiquitin.
up seq anno comments: Nucleophile
up seq anno comments: Phosphoserine
up seq anno comments: Proton donor
up seq anno comments: UCH_1
up seq anno comments: Ubiquitin carboxyl-terminal hydrolase isozyme L3
up seq anno feature ids: PRO_0000211061

9606:SAP18
gene id: 9606:SAP18
uniprot id: O00422
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: 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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes splicing regulation activity and interaction with RNPS1 and ACIN1; when associated with A-118.
up seq anno comments: Abolishes splicing regulation activity and interaction with RNPS1 and ACIN1; when associated with A-121.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Histone deacetylase complex subunit SAP18
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylalanine
up seq anno comments: No effect on splicing regulation activity.
up seq anno comments: Removed
up seq anno feature ids: PRO_0000220975
up seq anno feature ids: VSP_060066

9606:H2AC16
gene id: 9606:H2AC16
uniprot id: A4FTV9
uniprot id: P0C0S8
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 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: 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: 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
up seq anno comments: Histone H2A type 1
up seq anno comments: Histone_H2A_C
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:CNTNAP4
gene id: 9606:CNTNAP4
uniprot id: A0A087WTA1
uniprot id: Q86YZ8
uniprot id: Q9C0A0
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: Secondary Structure
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: CNTNAP4
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: LAM_G_DOMAIN
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:PDE5A
gene id: 9606:PDE5A
uniprot id: G5E9C5
uniprot id: O76074
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: Secondary Structure
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: 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: Changes substrate selectivity from cGMP-specific to dual cAMP and cGMP binding and hydrolysis; when associated with N-767 and Y-775.
up seq anno comments: Changes substrate selectivity from cGMP-specific to dual cAMP and cGMP binding and hydrolysis; when associated with N-767 and Y-853.
up seq anno comments: Changes substrate selectivity from cGMP-specific to dual cAMP and cGMP binding and hydrolysis; when associated with Y-775 and Y-853.
up seq anno comments: GAF 1
up seq anno comments: GAF 2
up seq anno comments: In isoform PDE5A2.
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 comments: cGMP-specific 3',5'-cyclic phosphodiesterase
up seq anno feature ids: PRO_0000198823
up seq anno feature ids: VAR_027775
up seq anno feature ids: VAR_027776
up seq anno feature ids: VSP_004591

9606:SCARF1
gene id: 9606:SCARF1
uniprot id: A8K6Z5
uniprot id: Q14162
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 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: 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: 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: 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: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Scavenger receptor class F member 1
up seq anno feature ids: PRO_0000007738
up seq anno feature ids: PRO_5002725467
up seq anno feature ids: VAR_047249
up seq anno feature ids: VAR_047250
up seq anno feature ids: VAR_047251
up seq anno feature ids: VAR_047252
up seq anno feature ids: VAR_047253
up seq anno feature ids: VAR_047254
up seq anno feature ids: VSP_039956
up seq anno feature ids: VSP_039957
up seq anno feature ids: VSP_039958
up seq anno feature ids: VSP_039959
up seq anno feature ids: VSP_039960
up seq anno feature ids: VSP_039961

9606:FAM78B
gene id: 9606:FAM78B
uniprot id: Q5VT40
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno comments: Protein FAM78B
up seq anno feature ids: PRO_0000265114

9606:ODF3
gene id: 9606:ODF3
uniprot id: Q96PU9
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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: In isoform 3.
up seq anno comments: Outer dense fiber protein 3
up seq anno comments: STPGR 1
up seq anno comments: STPGR 2
up seq anno feature ids: PRO_0000299464
up seq anno feature ids: VSP_027686
up seq anno feature ids: VSP_027687
up seq anno feature ids: VSP_054893

9606:CRYGS
gene id: 9606:CRYGS
uniprot id: A0A140CTX8
uniprot id: P22914
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: Secondary Structure
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: Mass
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: Beta/gamma crystallin 'Greek key'
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: Gamma-crystallin S
up seq anno comments: In CTRCT20.
up seq anno comments: In CTRCT20; unknown pathological significance.
up seq anno comments: N-acetylserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000057565
up seq anno feature ids: VAR_069797
up seq anno feature ids: VAR_084793
up seq anno feature ids: VAR_084794
up seq anno feature ids: VAR_084795

9606:PCGF5
gene id: 9606:PCGF5
uniprot id: Q86SE9
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
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: In isoform 2.
up seq anno comments: Polycomb group RING finger protein 5
up seq anno comments: RING-type
up seq anno feature ids: PRO_0000277868
up seq anno feature ids: VSP_023118
up seq anno feature ids: VSP_023119

9606:LRRC10
gene id: 9606:LRRC10
uniprot id: Q5BKY1
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
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: LRR 6
up seq anno comments: LRR 7
up seq anno comments: Leucine-rich repeat-containing protein 10
up seq anno feature ids: PRO_0000084470

9606:KCNJ18
gene id: 9606:KCNJ18
uniprot id: B7U540
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 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: Cytoplasmic
up seq anno comments: Decreases the single-channel open probability (Po) without altering its conductance.
up seq anno comments: Extracellular
up seq anno comments: Found in a patient with hypokalemic periodic paralysis without hyperthyroidism; reduces potassium inward and outward currents density.
up seq anno comments: Found in a patient with sporadic periodic paralysis; unknown pathological significance; abolishes potassium inward and outward currents density; reduces cell surface abundance.
up seq anno comments: Found in a patient with sporadic periodic paralysis; unknown pathological significance; decreases potassium inward and outward currents density; reduces cell surface abundance; reduces conductance; dominant negative mutation.
up seq anno comments: Helical
up seq anno comments: In TTPP2.
up seq anno comments: In TTPP2; abolishes potassium inward and outward currents density.
up seq anno comments: In TTPP2; hypermorphic; longer time required for half-maximal current degradation.
up seq anno comments: In TTPP2; reduces potassium inward and outward currents density.
up seq anno comments: In TTPP2; small decrease in current density.
up seq anno comments: In TTPP2; unknown pathological significance; decreases potassium inward and outward currents density; reduces cell surface abundance; reduces open propability; dominant negative mutation.
up seq anno comments: Inward rectifier potassium channel 18
up seq anno feature ids: PRO_0000395171
up seq anno feature ids: VAR_063286
up seq anno feature ids: VAR_063287
up seq anno feature ids: VAR_063288
up seq anno feature ids: VAR_063289
up seq anno feature ids: VAR_079830
up seq anno feature ids: VAR_079831
up seq anno feature ids: VAR_079832
up seq anno feature ids: VAR_079833
up seq anno feature ids: VAR_079834
up seq anno feature ids: VAR_079835
up seq anno feature ids: VAR_079836
up seq anno feature ids: VAR_079837
up seq anno feature ids: VAR_079838
up seq anno feature ids: VAR_079839

9606:DNAAF9
gene id: 9606:DNAAF9
uniprot id: Q0IIP3
uniprot id: Q5TEA3
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 labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
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:PTRH1
gene id: 9606:PTRH1
uniprot id: Q86Y79
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno comments: Probable peptidyl-tRNA hydrolase
up seq anno feature ids: PRO_0000240441

9606:C16orf82
gene id: 9606:C16orf82
uniprot id: A0A5F9ZHF3
uniprot id: Q7Z2V1
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 comments: Polar residues
up seq anno comments: Protein TNT
up seq anno feature ids: PRO_0000072616

9606:SNX16
gene id: 9606:SNX16
uniprot id: P57768
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: Secondary Structure
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: 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 comments: Abolishes binding to membranes enriched in phosphatidylinositol 3-phosphate.
up seq anno comments: Abolishes binding to phosphatidylinositol 3-phosphate.
up seq anno comments: In isoform 2.
up seq anno comments: PX
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Sorting nexin-16
up seq anno feature ids: PRO_0000213863
up seq anno feature ids: VAR_052479
up seq anno feature ids: VSP_042944

9606:PHACTR3
gene id: 9606:PHACTR3
uniprot id: B7Z339
uniprot id: Q96KR7
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 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: 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: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Phosphatase and actin regulator 3
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_0000126638
up seq anno feature ids: VAR_021969
up seq anno feature ids: VSP_009091
up seq anno feature ids: VSP_009092
up seq anno feature ids: VSP_044546

9606:DAP3
gene id: 9606:DAP3
uniprot id: P51398
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: 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 labels: Splice Variant
up seq anno labels: Transit Peptide
up seq anno comments: 28S ribosomal protein S29, mitochondrial
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 feature ids: PRO_0000087717
up seq anno feature ids: VAR_061811
up seq anno feature ids: VSP_042790
up seq anno feature ids: VSP_044639

9606:PRR15L
gene id: 9606:PRR15L
uniprot id: A0A140VJT1
uniprot id: Q9BU68
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 comments: Basic and acidic residues
up seq anno comments: Proline-rich protein 15-like protein
up seq anno feature ids: PRO_0000294352

9606:ARRB2
gene id: 9606:ARRB2
uniprot id: K7ENA6
uniprot id: P32121
uniprot id: Q59EM5
uniprot id: Q68DZ5
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 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: Non-terminal Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Abolishes interaction with CHUK; when associated with A-11; A-12 and A-230.
up seq anno comments: Abolishes interaction with CHUK; when associated with A-11; A-12 and A-231.
up seq anno comments: Abolishes interaction with CHUK; when associated with A-11; A-230 and A-231.
up seq anno comments: Abolishes interaction with CHUK; when associated with A-12; A-230 and A-231.
up seq anno comments: Arrestin_C
up seq anno comments: Beta-arrestin-2
up seq anno comments: Hydroxyproline; by PHD2
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: Inhibits internalization of CXCR4; no effect on interaction with CXCR4.
up seq anno comments: Loss of phosphorylation.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Reduces interaction with CHUK; when associated with A-360.
up seq anno comments: Reduces interaction with CHUK; when associated with A-382.
up seq anno comments: [DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif
up seq anno feature ids: PRO_0000205199
up seq anno feature ids: VSP_008194
up seq anno feature ids: VSP_008195
up seq anno feature ids: VSP_044697

9606:IAH1
gene id: 9606:IAH1
uniprot id: A0A140VJL6
uniprot id: Q05D21
uniprot id: Q2TAA2
uniprot id: Q6NVV8
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: Site
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: Non-terminal Residue
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: Isoamyl acetate-hydrolyzing esterase 1 homolog
up seq anno comments: N6-succinyllysine
up seq anno comments: Nucleophile
up seq anno comments: Proton acceptor
up seq anno comments: Proton donor
up seq anno comments: SGNH_hydro
up seq anno feature ids: PRO_0000315723
up seq anno feature ids: VSP_056571

9606:BAG2
gene id: 9606:BAG2
uniprot id: O95816
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 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: Splice Variant
up seq anno comments: BAG
up seq anno comments: BAG family molecular chaperone regulator 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_0000088866
up seq anno feature ids: VSP_056462

9606:CGB2
gene id: 9606:CGB2
uniprot id: Q6NT52
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: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Signal Peptide
up seq anno comments: Choriogonadotropin subunit beta variant 2
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000342549

9606:WNK1
gene id: 9606:WNK1
uniprot id: A5D8Z4
uniprot id: F5GWT4
uniprot id: Q9H4A3
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: Secondary Structure
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: 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: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: In a breast pleomorphic lobular carcinoma sample; somatic mutation.
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In a lung adenocarcinoma sample; somatic mutation.
up seq anno comments: In breast cancer samples; infiltrating ductal carcinoma; 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 6.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; 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: Serine/threonine-protein kinase WNK1
up seq anno feature ids: PRO_0000086819
up seq anno feature ids: VAR_019992
up seq anno feature ids: VAR_035640
up seq anno feature ids: VAR_035641
up seq anno feature ids: VAR_041309
up seq anno feature ids: VAR_041310
up seq anno feature ids: VAR_041311
up seq anno feature ids: VAR_041312
up seq anno feature ids: VAR_041313
up seq anno feature ids: VAR_041314
up seq anno feature ids: VAR_041315
up seq anno feature ids: VAR_041316
up seq anno feature ids: VAR_041317
up seq anno feature ids: VAR_041318
up seq anno feature ids: VAR_041319
up seq anno feature ids: VAR_041320
up seq anno feature ids: VAR_041321
up seq anno feature ids: VAR_041322
up seq anno feature ids: VAR_059033
up seq anno feature ids: VAR_059034
up seq anno feature ids: VSP_040267
up seq anno feature ids: VSP_040268
up seq anno feature ids: VSP_040269
up seq anno feature ids: VSP_040270
up seq anno feature ids: VSP_050634
up seq anno feature ids: VSP_050637
up seq anno feature ids: VSP_050638
up seq anno feature ids: VSP_053767

9606:MILR1
gene id: 9606:MILR1
uniprot id: Q7Z6M3
up 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 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: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Allergin-1
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
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: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphotyrosine
up seq anno feature ids: PRO_0000307364
up seq anno feature ids: VSP_040765
up seq anno feature ids: VSP_040766

9606:SHISA7
gene id: 9606:SHISA7
uniprot id: A6NL88
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: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Motif
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: N-linked (GlcNAc...) asparagine
up seq anno comments: PDZ-binding
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Protein shisa-7
up seq anno feature ids: PRO_0000344472

9606:TEX35
gene id: 9606:TEX35
uniprot id: Q5T0J7
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 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: 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: Testis-expressed protein 35
up seq anno feature ids: PRO_0000251187
up seq anno feature ids: VAR_027656
up seq anno feature ids: VAR_027657
up seq anno feature ids: VAR_027658
up seq anno feature ids: VAR_059592
up seq anno feature ids: VSP_020737
up seq anno feature ids: VSP_020738
up seq anno feature ids: VSP_020739
up seq anno feature ids: VSP_020740
up seq anno feature ids: VSP_020741
up seq anno feature ids: VSP_045739

9606:OGFOD2
gene id: 9606:OGFOD2
uniprot id: A0A024RBQ7
uniprot id: B3KTF4
uniprot id: Q6N063
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: 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 labels: Splice Variant
up seq anno comments: 2-oxoglutarate and iron-dependent oxygenase domain-containing protein 2
up seq anno comments: Fe2OG dioxygenase
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_0000288978
up seq anno feature ids: VSP_025855
up seq anno feature ids: VSP_025856
up seq anno feature ids: VSP_025857
up seq anno feature ids: VSP_025858
up seq anno feature ids: VSP_025859

9606:SZRD1
gene id: 9606:SZRD1
uniprot id: Q7Z422
up 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 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: Splice Variant
up seq anno comments: Basic and acidic residues
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-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: SUZ
up seq anno comments: SUZ domain-containing protein 1
up seq anno comments: SUZ-C
up seq anno feature ids: PRO_0000303068
up seq anno feature ids: VSP_027995
up seq anno feature ids: VSP_027996
up seq anno feature ids: VSP_027997
up seq anno feature ids: VSP_055690

9606:CAPS2
gene id: 9606:CAPS2
uniprot id: B9A061
uniprot id: Q9BXY5
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: 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 labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Calcyphosin-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: In isoform 2 and isoform 3.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno feature ids: PRO_0000073540
up seq anno feature ids: VAR_061085
up seq anno feature ids: VSP_014408
up seq anno feature ids: VSP_014409
up seq anno feature ids: VSP_014410

9606:ZDHHC21
gene id: 9606:ZDHHC21
uniprot id: Q8IVQ6
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: Domain Extent
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: Palmitoyltransferase ZDHHC21
up seq anno comments: S-palmitoyl cysteine intermediate
up seq anno feature ids: PRO_0000212908

9606:TMEM69
gene id: 9606:TMEM69
uniprot id: Q5SWH9
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
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 69
up seq anno feature ids: PRO_0000282850

9606:MRPL58
gene id: 9606:MRPL58
uniprot id: Q14197
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: Secondary Structure
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: Transit Peptide
up seq anno labels: Turn
up seq anno comments: Mitochondrion
up seq anno comments: Peptidyl-tRNA hydrolase ICT1, mitochondrial
up seq anno comments: Strongly impairs peptide release activity.
up seq anno feature ids: PRO_0000030339
up seq anno feature ids: VAR_020045
up seq anno feature ids: VAR_024604
up seq anno feature ids: VAR_061767

9606:WDR90
gene id: 9606:WDR90
uniprot id: Q96KV7
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 labels: Chain
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 comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 2.
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: Phosphoserine
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 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 90
up seq anno feature ids: PRO_0000341412
up seq anno feature ids: VAR_044060
up seq anno feature ids: VAR_044061
up seq anno feature ids: VAR_044062
up seq anno feature ids: VAR_044063
up seq anno feature ids: VAR_044064
up seq anno feature ids: VAR_044065
up seq anno feature ids: VSP_034290
up seq anno feature ids: VSP_034294
up seq anno feature ids: VSP_034298
up seq anno feature ids: VSP_034300
up seq anno feature ids: VSP_034303
up seq anno feature ids: VSP_034306
up seq anno feature ids: VSP_041087
up seq anno feature ids: VSP_041088

9606:ZSWIM8
gene id: 9606:ZSWIM8
uniprot id: A7E2V4
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
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: 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:MAPRE3
gene id: 9606:MAPRE3
uniprot id: Q9UPY8
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: Secondary Structure
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: Sequence Conflict
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: Calponin-homology (CH)
up seq anno comments: EB1 C-terminal
up seq anno comments: In isoform 2.
up seq anno comments: Loss of localization of CAMSAP2 stretches to the Golgi apparatus; when associated with A-226.
up seq anno comments: Loss of localization of CAMSAP2 stretches to the Golgi apparatus; when associated with A-234.
up seq anno comments: Microtubule-associated protein RP/EB family member 3
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000213428
up seq anno feature ids: VSP_012947

9606:ST3GAL4
gene id: 9606:ST3GAL4
uniprot id: A0A7I2V5F3
uniprot id: A0A7P0RGI5
uniprot id: Q11206
uniprot id: Q6IBE6
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 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: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4
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 isoform 2 and isoform 6.
up seq anno comments: In isoform 3 and isoform 7.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5, isoform 6 and isoform 7.
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000149262
up seq anno feature ids: PRO_5014310484
up seq anno feature ids: PRO_5029838108
up seq anno feature ids: VSP_001784
up seq anno feature ids: VSP_001785
up seq anno feature ids: VSP_001786
up seq anno feature ids: VSP_021104

9606:ANKRD61
gene id: 9606:ANKRD61
uniprot id: A6NGH8
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
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: ANK 6
up seq anno comments: ANK 7
up seq anno comments: ANK 8
up seq anno comments: Ankyrin repeat domain-containing protein 61
up seq anno feature ids: PRO_0000328762

9606:FUBP3
gene id: 9606:FUBP3
uniprot id: A0A024R8A7
uniprot id: Q96I24
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 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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Far upstream element-binding protein 3
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: KH
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: 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_0000050140
up seq anno feature ids: VSP_008323
up seq anno feature ids: VSP_008324

9606:HPSE2
gene id: 9606:HPSE2
uniprot id: Q2M1H9
uniprot id: Q8WWQ2
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 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: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Inactive heparanase-2
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000068140
up seq anno feature ids: PRO_5004212376
up seq anno feature ids: VAR_023601
up seq anno feature ids: VAR_030472
up seq anno feature ids: VSP_015850
up seq anno feature ids: VSP_015851
up seq anno feature ids: VSP_015852
up seq anno feature ids: VSP_015853

9606:STEAP4
gene id: 9606:STEAP4
uniprot id: Q687X5
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: Secondary Structure
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: 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: Transmembrane
up seq anno labels: Turn
up seq anno comments: Ferric oxidoreductase
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Metalloreductase STEAP4
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Strongly reduced enzyme activity. No effect on trimerization and on heme binding.
up seq anno comments: axial binding residue
up seq anno feature ids: PRO_0000285174
up seq anno feature ids: VAR_031976
up seq anno feature ids: VAR_031977
up seq anno feature ids: VSP_024833

9606:ABHD1
gene id: 9606:ABHD1
uniprot id: A0A140VJD1
uniprot id: Q96SE0
up 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: Site
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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: AB hydrolase-1
up seq anno comments: Charge relay system
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: Protein ABHD1
up seq anno feature ids: PRO_0000280204
up seq anno feature ids: VAR_031087
up seq anno feature ids: VAR_031088
up seq anno feature ids: VAR_052484
up seq anno feature ids: VSP_054269
up seq anno feature ids: VSP_054270

9606:POGLUT3
gene id: 9606:POGLUT3
uniprot id: A0A024R3C4
uniprot id: Q7Z4H8
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 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: Splice Variant
up seq anno comments: CAP10
up seq anno comments: Filamin
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: Prevents secretion from ER
up seq anno comments: Protein O-glucosyltransferase 3
up seq anno feature ids: PRO_0000247196
up seq anno feature ids: PRO_5014214210
up seq anno feature ids: VAR_027086
up seq anno feature ids: VSP_019944
up seq anno feature ids: VSP_019945
up seq anno feature ids: VSP_019946
up seq anno feature ids: VSP_019947

9606:CCDC69
gene id: 9606:CCDC69
uniprot id: A6NI79
uniprot id: Q7L2X4
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 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: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Coiled-coil domain-containing protein 69
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:COL9A3
gene id: 9606:COL9A3
uniprot id: Q14050
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: Secondary Structure
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: 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: In EDM3.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Pro residues
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

9606:TMX2
gene id: 9606:TMX2
uniprot id: Q9Y320
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: Secondary Structure
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: 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: Extracellular
up seq anno comments: Helical
up seq anno comments: In NEDMCMS.
up seq anno comments: In NEDMCMS; changed alternative splicing; decreased protein abundance; homozygous patient cells show decreased mitochondrial respiratory reserve capacity and compensatory increased glycolytic activity.
up seq anno comments: In NEDMCMS; increased homodimerization; even in absence of oxidative stress.
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:EYA3
gene id: 9606:EYA3
uniprot id: Q99504
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: 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: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
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:RBMS2
gene id: 9606:RBMS2
uniprot id: Q15434
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 labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
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: Phosphothreonine
up seq anno comments: RNA-binding motif, single-stranded-interacting protein 2
up seq anno comments: RRM 1
up seq anno comments: RRM 2
up seq anno feature ids: PRO_0000081800

9606:CRYGN
gene id: 9606:CRYGN
uniprot id: A0A090N8I5
uniprot id: Q8WXF5
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Splice Variant
up seq anno comments: Beta/gamma crystallin 'Greek key'
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: Gamma-crystallin N
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000311281
up seq anno feature ids: VSP_029507
up seq anno feature ids: VSP_029508

9606:TTLL2
gene id: 9606:TTLL2
uniprot id: Q9BWV7
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: 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 labels: Sequence Variant
up seq anno comments: Probable tubulin polyglutamylase TTLL2
up seq anno comments: TTL
up seq anno feature ids: PRO_0000212440
up seq anno feature ids: VAR_028119
up seq anno feature ids: VAR_028120
up seq anno feature ids: VAR_028121
up seq anno feature ids: VAR_028122
up seq anno feature ids: VAR_028123
up seq anno feature ids: VAR_028124
up seq anno feature ids: VAR_057312
up seq anno feature ids: VAR_057313
up seq anno feature ids: VAR_057314
up seq anno feature ids: VAR_061866

9606:DNASE1L1
gene id: 9606:DNASE1L1
uniprot id: P49184
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: Site
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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Deoxyribonuclease-1-like 1
up seq anno comments: Essential for enzymatic activity
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000007284
up seq anno feature ids: VAR_048869

9606:REG3G
gene id: 9606:REG3G
uniprot id: Q6UW15
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 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: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: C-type lectin
up seq anno comments: EPN
up seq anno comments: In isoform 2.
up seq anno comments: Regenerating islet-derived protein 3-gamma 15 kDa form
up seq anno comments: Regenerating islet-derived protein 3-gamma 16.5 kDa form
up seq anno feature ids: PRO_0000017434
up seq anno feature ids: PRO_0000422751
up seq anno feature ids: PRO_0000422752
up seq anno feature ids: VSP_045169

9606:HLA-DPB1
gene id: 9606:HLA-DPB1
uniprot id: I4EC15
uniprot id: P04440
up 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 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: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Allele DPB1*41:01 and allele DPB1*83:01.
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: HLA class II histocompatibility antigen, DP beta 1 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 DPB1*01:01, allele DPB1*01:02, allele DPB1*09:02, allele DPB1*11:01, allele DPB1*13:01, allele DPB1*15:01, allele DPB1*20:02, allele DPB1*21:02, allele DPB1*25:02, allele DPB1*26:01, allele DPB1*27:01, allele DPB1*39:01, allele DPB1*40:01, allele DPB1*49:01, allele DPB1*53:01, allele DPB1*65:01, allele DPB1*74:01, allele DPB1*85:01, allele DPB1*89:01 and allele DPB1*96:01.
up seq anno comments: In allele DPB1*01:01, allele DPB1*03:01, allele DPB1*03:02, allele DPB1*04:03, allele DPB1*05:01, allele DPB1*05:02, allele DPB1*06:01, allele DPB1*08:01, allele DPB1*08:02, allele DPB1*09:01, allele DPB1*09:02, allele DPB1*10:01, allele DPB1*11:01, allele DPB1*11:01, allele DPB1*13:01, allele DPB1*13:02, allele DPB1*13:02, allele DPB1*14:01, allele DPB1*14:02, allele DPB1*16:01, allele DPB1*17:01, allele DPB1*17:02, allele DPB1*19:01, allele DPB1*21:01, allele DPB1*21:01, allele DPB1*21:02, allele DPB1*21:02, allele DPB1*20:01, allele DPB1*22:01, allele DPB1*25:01, allele DPB1*25:02, allele DPB1*26:01, allele DPB1*27:01, allele DPB1*29:01, allele DPB1*30:01, allele DPB1*31:01, allele DPB1*35:01, allele DPB1*36:01, allele DPB1*37:01, allele DPB1*38:01, allele DPB1*44:01, allele DPB1*45:01, allele DPB1*50:01, allele DPB1*52:01, allele DPB1*54:01, allele DPB1*55:01, allele DPB1*56:01, allele DPB1*57:01, allele DPB1*58:01, allele DPB1*63:01, allele DPB1*65:01, allele DPB1*67:01, allele DPB1*68:01, allele DPB1*69:01, allele DPB1*70:01, allele DPB1*76:01, allele DPB1*78:01, allele DPB1*79:01, allele DPB1*84:01, allele DPB1*85:01, allele DPB1*87:01, allele DPB1*88:01, allele DPB1*89:01, allele DPB1*90:01, allele DPB1*91:01, allele DPB1*92:01, allele DPB1*93:01, allele DPB1*97:01 and allele DPB1*98:01.
up seq anno comments: In allele DPB1*01:01, allele DPB1*03:01, allele DPB1*03:02, allele DPB1*04:03, allele DPB1*05:01, allele DPB1*05:02, allele DPB1*06:01, allele DPB1*08:01, allele DPB1*08:02, allele DPB1*09:01, allele DPB1*09:02, allele DPB1*10:01, allele DPB1*11:01, allele DPB1*13:01, allele DPB1*13:02, allele DPB1*14:01, allele DPB1*14:02, allele DPB1*16:01, allele DPB1*17:01, allele DPB1*17:02, allele DPB1*19:01, allele DPB1*21:01, allele DPB1*21:02, allele DPB1*20:01, allele DPB1*22:01, allele DPB1*22:02, allele DPB1*25:01, allele DPB1*25:02, allele DPB1*26:01, allele DPB1*27:01, allele DPB1*29:01, allele DPB1*30:01, allele DPB1*31:01, allele DPB1*35:01, allele DPB1*36:01, allele DPB1*37:01, allele DPB1*38:01, allele DPB1*44:01, allele DPB1*45:01, allele DPB1*50:01, allele DPB1*52:01, allele DPB1*54:01, allele DPB1*55:01, allele DPB1*56:01, allele DPB1*57:01, allele DPB1*58:01, allele DPB1*63:01, allele DPB1*65:01, allele DPB1*67:01, allele DPB1*68:01, allele DPB1*69:01, allele DPB1*70:01, allele DPB1*76:01, allele DPB1*78:01, allele DPB1*79:01, allele DPB1*84:01, allele DPB1*85:01, allele DPB1*87:01, allele DPB1*88:01, allele DPB1*89:01, allele DPB1*90:01, allele DPB1*91:01, allele DPB1*92:01, allele DPB1*93:01, allele DPB1*97:01 and allele DPB1*98:01.
up seq anno comments: In allele DPB1*01:01, allele DPB1*03:01, allele DPB1*03:02, allele DPB1*04:03, allele DPB1*05:01, allele DPB1*05:02, allele DPB1*06:01, allele DPB1*08:01, allele DPB1*08:02, allele DPB1*09:01, allele DPB1*09:02, allele DPB1*10:01, allele DPB1*11:01, allele DPB1*13:01, allele DPB1*13:02, allele DPB1*14:01, allele DPB1*14:02, allele DPB1*16:01, allele DPB1*17:01, allele DPB1*17:02, allele DPB1*19:01, allele DPB1*21:01, allele DPB1*21:02, allele DPB1*20:01, allele DPB1*22:01, allele DPB1*22:02, allele DPB1*25:01, allele DPB1*25:02, allele DPB1*26:01, allele DPB1*27:01, allele DPB1*29:01, allele DPB1*30:01, allele DPB1*31:01, allele DPB1*35:01, allele DPB1*36:01, allele DPB1*37:01, allele DPB1*38:01, allele DPB1*44:01, allele DPB1*45:01, allele DPB1*50:01, allele DPB1*52:01, allele DPB1*54:01, allele DPB1*55:01, allele DPB1*56:01, allele DPB1*58:01, allele DPB1*63:01, allele DPB1*65:01, allele DPB1*67:01, allele DPB1*68:01, allele DPB1*69:01, allele DPB1*70:01, allele DPB1*76:01, allele DPB1*78:01, allele DPB1*79:01, allele DPB1*84:01, allele DPB1*85:01, allele DPB1*87:01, allele DPB1*88:01, allele DPB1*89:01, allele DPB1*90:01, allele DPB1*91:01, allele DPB1*92:01, allele DPB1*93:01, allele DPB1*97:01 and allele DPB1*98:01.
up seq anno comments: In allele DPB1*01:01, allele DPB1*03:01, allele DPB1*05:01, allele DPB1*05:02, allele DPB1*06:01, allele DPB1*09:01, allele DPB1*09:02, allele DPB1*13:01, allele DPB1*14:01, allele DPB1*15:01, allele DPB1*18:01, allele DPB1*19:01, allele DPB1*20:01, allele DPB1*26:01, allele DPB1*45:01 and allele DPB1*85:01.
up seq anno comments: In allele DPB1*01:01, allele DPB1*03:01, allele DPB1*05:02, allele DPB1*06:01, allele DPB1*09:01, allele DPB1*09:02, allele DPB1*10:01, allele DPB1*11:01, allele DPB1*11:02, allele DPB1*13:01, allele DPB1*13:02, allele DPB1*14:01, allele DPB1*14:02, allele DPB1*15:01, allele DPB1*16:02, allele DPB1*17:01, allele DPB1*17:02, allele DPB1*18:01, allele DPB1*20:02, allele DPB1*21:01, allele DPB1*21:02, allele DPB1*20:01, allele DPB1*22:02, allele DPB1*25:01, allele DPB1*25:02, allele DPB1*26:01, allele DPB1*27:01, allele DPB1*29:01, allele DPB1*30:01, allele DPB1*35:01, allele DPB1*36:01, allele DPB1*37:01, allele DPB1*44:01, allele DPB1*45:01, allele DPB1*50:01, allele DPB1*52:01, allele DPB1*54:01, allele DPB1*55:01, allele DPB1*56:01, allele DPB1*58:01, allele DPB1*66:01, allele DPB1*67:01, allele DPB1*69:01, allele DPB1*70:01, allele DPB1*74:01, allele DPB1*76:01, allele DPB1*78:01, allele DPB1*79:01, allele DPB1*85:01, allele DPB1*86:01, allele DPB1*87:01, allele DPB1*88:01, allele DPB1*89:01, allele DPB1*90:01, allele DPB1*91:01, allele DPB1*92:01, allele DPB1*93:01 and allele DPB1*98:01.
up seq anno comments: In allele DPB1*01:01, allele DPB1*03:01, allele DPB1*05:02, allele DPB1*06:01, allele DPB1*09:02, allele DPB1*11:01, allele DPB1*11:02, allele DPB1*13:01, allele DPB1*13:02, allele DPB1*14:02, allele DPB1*15:01, allele DPB1*17:02, allele DPB1*18:01, allele DPB1*20:02, allele DPB1*21:01, allele DPB1*21:02, allele DPB1*20:01, allele DPB1*25:01, allele DPB1*25:02, allele DPB1*26:01, allele DPB1*27:01, allele DPB1*29:01, allele DPB1*36:01, allele DPB1*37:01, allele DPB1*44:01, allele DPB1*50:01, allele DPB1*52:01, allele DPB1*56:01, allele DPB1*69:01, allele DPB1*74:01, allele DPB1*78:01, allele DPB1*79:01, allele DPB1*85:01, allele DPB1*87:01, allele DPB1*88:01, allele DPB1*89:01, allele DPB1*90:01, allele DPB1*92:01 and allele DPB1*93:01.
up seq anno comments: In allele DPB1*01:01, allele DPB1*03:01, allele DPB1*05:02, allele DPB1*08:01, allele DPB1*09:01, allele DPB1*10:01, allele DPB1*14:01, allele DPB1*14:02, allele DPB1*17:02, allele DPB1*21:02, allele DPB1*22:02, allele DPB1*25:01, allele DPB1*25:02, allele DPB1*26:01, allele DPB1*29:01, allele DPB1*35:01, allele DPB1*37:01, allele DPB1*44:01, allele DPB1*45:01, allele DPB1*50:01, allele DPB1*52:01, allele DPB1*54:01, allele DPB1*56:01, allele DPB1*57:01, allele DPB1*65:01, allele DPB1*67:01, allele DPB1*68:01, allele DPB1*70:01, allele DPB1*73:01, allele DPB1*75:01, allele DPB1*76:01, allele DPB1*78:01, allele DPB1*79:01, allele DPB1*84:01, allele DPB1*88:01, allele DPB1*90:01 and allele DPB1*92:01.
up seq anno comments: In allele DPB1*01:01.
up seq anno comments: In allele DPB1*01:02, allele DPB1*02:01, allele DPB1*02:02, allele DPB1*02:03, allele DPB1*03:01, allele DPB1*04:02, allele DPB1*04:03, allele DPB1*05:01, allele DPB1*05:02, allele DPB1*06:01, allele DPB1*06:02, allele DPB1*08:01, allele DPB1*08:02, allele DPB1*09:01, allele DPB1*10:01, allele DPB1*10:02, allele DPB1*11:02, allele DPB1*14:01, allele DPB1*14:02, allele DPB1*15:02, allele DPB1*16:01, allele DPB1*16:02, allele DPB1*17:01, allele DPB1*17:02, allele DPB1*18:01, allele DPB1*18:02, allele DPB1*19:01, allele DPB1*19:02, allele DPB1*21:01, allele DPB1*20:01, allele DPB1*22:01, allele DPB1*22:02, allele DPB1*23:01, allele DPB1*25:01, allele DPB1*26:02, allele DPB1*29:01, allele DPB1*30:01, allele DPB1*32:01, allele DPB1*34:01, allele DPB1*35:01, allele DPB1*36:01, allele DPB1*37:01, allele DPB1*38:01, allele DPB1*41:01, allele DPB1*44:01, allele DPB1*45:01, allele DPB1*46:01, allele DPB1*47:01, allele DPB1*48:01, allele DPB1*50:01, allele DPB1*52:01, allele DPB1*54:01, allele DPB1*55:01, allele DPB1*57:01, allele DPB1*58:01, allele DPB1*59:01, allele DPB1*60:01, allele DPB1*62:01, allele DPB1*63:01, allele DPB1*67:01, allele DPB1*68:01, allele DPB1*69:01, allele DPB1*70:01, allele DPB1*71:01, allele DPB1*73:01, allele DPB1*75:01, allele DPB1*77:01, allele DPB1*78:01, allele DPB1*79:01, allele DPB1*80:01, allele DPB1*82:01, allele DPB1*83:01, allele DPB1*84:01, allele DPB1*86:01, allele DPB1*87:01, allele DPB1*88:01, allele DPB1*91:01, allele DPB1*93:01, allele DPB1*94:01, allele DPB1*95:01, allele DPB1*97:01 and allele DPB1*98:01.
up seq anno comments: In allele DPB1*01:02, allele DPB1*02:02, allele DPB1*02:03, allele DPB1*05:01, allele DPB1*08:02, allele DPB1*17:02, allele DPB1*19:01, allele DPB1*21:01, allele DPB1*22:01, allele DPB1*24:01, allele DPB1*30:01, allele DPB1*36:01, allele DPB1*38:01, allele DPB1*47:01, allele DPB1*54:01, allele DPB1*84:01 and allele DPB1*97:01.
up seq anno comments: In allele DPB1*02:01, allele DPB1*02:02, allele DPB1*02:03, allele DPB1*04:03, allele DPB1*06:01, allele DPB1*08:01, allele DPB1*08:02, allele DPB1*09:01, allele DPB1*09:02, allele DPB1*10:01, allele DPB1*11:02, allele DPB1*13:01, allele DPB1*13:02, allele DPB1*16:01, allele DPB1*16:02, allele DPB1*17:01, allele DPB1*18:02, allele DPB1*19:01, allele DPB1*20:02, allele DPB1*21:01, allele DPB1*22:01, allele DPB1*26:02, allele DPB1*29:01, allele DPB1*30:01, allele DPB1*32:01, allele DPB1*33:01, allele DPB1*37:01, allele DPB1*41:01, allele DPB1*44:01, allele DPB1*46:01, allele DPB1*47:01, allele DPB1*48:01, allele DPB1*54:01, allele DPB1*55:01, allele DPB1*58:01, allele DPB1*71:01, allele DPB1*81:01, allele DPB1*86:01, allele DPB1*88:01, allele DPB1*93:01 and allele DPB1*95:01.
up seq anno comments: In allele DPB1*02:01, allele DPB1*03:01, allele DPB1*04:02, allele DPB1*05:02, allele DPB1*06:01, allele DPB1*06:02, allele DPB1*08:01, allele DPB1*09:01, allele DPB1*10:01, allele DPB1*10:02, allele DPB1*11:02, allele DPB1*14:01, allele DPB1*14:02, allele DPB1*16:01, allele DPB1*16:02, allele DPB1*17:01, allele DPB1*18:01, allele DPB1*18:01, allele DPB1*18:02, allele DPB1*19:02, allele DPB1*20:01, allele DPB1*22:02, allele DPB1*25:01, allele DPB1*25:02, allele DPB1*26:02, allele DPB1*28:01, allele DPB1*29:01, allele DPB1*32:01, allele DPB1*35:01, allele DPB1*37:01, allele DPB1*41:01, allele DPB1*44:01, allele DPB1*45:01, allele DPB1*46:01, allele DPB1*48:01, allele DPB1*49:01, allele DPB1*50:01, allele DPB1*51:01, allele DPB1*53:01, allele DPB1*57:01, allele DPB1*59:01, allele DPB1*60:01, allele DPB1*68:01, allele DPB1*69:01, allele DPB1*70:01, allele DPB1*73:01, allele DPB1*75:01, allele DPB1*76:01, allele DPB1*77:01, allele DPB1*78:01, allele DPB1*79:01, allele DPB1*80:01, allele DPB1*81:01, allele DPB1*82:01, allele DPB1*83:01, allele DPB1*86:01, allele DPB1*88:01, allele DPB1*91:01, allele DPB1*92:01, allele DPB1*93:01, allele DPB1*94:01 and allele DPB1*98:01.
up seq anno comments: In allele DPB1*02:01, allele DPB1*03:01, allele DPB1*04:02, allele DPB1*05:02, allele DPB1*06:01, allele DPB1*06:02, allele DPB1*08:01, allele DPB1*09:01, allele DPB1*10:01, allele DPB1*10:02, allele DPB1*11:02, allele DPB1*14:01, allele DPB1*14:02, allele DPB1*16:01, allele DPB1*16:02, allele DPB1*17:01, allele DPB1*18:01, allele DPB1*18:02, allele DPB1*19:02, allele DPB1*20:01, allele DPB1*22:02, allele DPB1*25:01, allele DPB1*25:02, allele DPB1*26:02, allele DPB1*28:01, allele DPB1*29:01, allele DPB1*32:01, allele DPB1*35:01, allele DPB1*37:01, allele DPB1*41:01, allele DPB1*44:01, allele DPB1*45:01, allele DPB1*46:01, allele DPB1*48:01, allele DPB1*49:01, allele DPB1*50:01, allele DPB1*51:01, allele DPB1*53:01, allele DPB1*57:01, allele DPB1*59:01, allele DPB1*60:01, allele DPB1*68:01, allele DPB1*69:01, allele DPB1*70:01, allele DPB1*73:01, allele DPB1*75:01, allele DPB1*76:01, allele DPB1*77:01, allele DPB1*78:01, allele DPB1*79:01, allele DPB1*80:01, allele DPB1*81:01, allele DPB1*82:01, allele DPB1*83:01, allele DPB1*84:01, allele DPB1*86:01, allele DPB1*88:01, allele DPB1*91:01, allele DPB1*92:01, allele DPB1*93:01, allele DPB1*94:01 and allele DPB1*98:01.
up seq anno comments: In allele DPB1*02:02, allele DPB1*02:03, allele DPB1*05:01, allele DPB1*15:02, allele DPB1*17:02, allele DPB1*19:02, allele DPB1*21:01, allele DPB1*21:01, allele DPB1*22:01, allele DPB1*34:01, allele DPB1*36:01, allele DPB1*38:01, allele DPB1*44:01, allele DPB1*48:01, allele DPB1*58:01, allele DPB1*62:01, allele DPB1*63:01, allele DPB1*95:01 and allele DPB1*97:01.
up seq anno comments: In allele DPB1*02:03.
up seq anno comments: In allele DPB1*03:01, allele DPB1*03:02, allele DPB1*05:02, allele DPB1*06:01, allele DPB1*10:02, allele DPB1*11:01, allele DPB1*14:01, allele DPB1*14:02, allele DPB1*15:01, allele DPB1*17:02, allele DPB1*20:01, allele DPB1*22:02, allele DPB1*25:01, allele DPB1*28:01, allele DPB1*29:01, allele DPB1*31:01, allele DPB1*34:01, allele DPB1*44:01, allele DPB1*45:01, allele DPB1*50:01, allele DPB1*52:01, allele DPB1*56:01, allele DPB1*57:01, allele DPB1*59:01, allele DPB1*67:01, allele DPB1*69:01, allele DPB1*70:01, allele DPB1*72:01, allele DPB1*73:01, allele DPB1*74:01, allele DPB1*76:01, allele DPB1*78:01, allele DPB1*87:01, allele DPB1*91:01, allele DPB1*92:01 and allele DPB1*95:01.
up seq anno comments: In allele DPB1*03:01, allele DPB1*05:02, allele DPB1*06:01, allele DPB1*09:01, allele DPB1*09:02, allele DPB1*10:01, allele DPB1*11:01, allele DPB1*11:02, allele DPB1*13:01, allele DPB1*13:02, allele DPB1*14:01, allele DPB1*14:02, allele DPB1*16:02, allele DPB1*17:01, allele DPB1*17:02, allele DPB1*20:02, allele DPB1*21:01, allele DPB1*20:01, allele DPB1*22:02, allele DPB1*25:01, allele DPB1*26:01, allele DPB1*27:01, allele DPB1*29:01, allele DPB1*30:01, allele DPB1*35:01, allele DPB1*36:01, allele DPB1*37:01, allele DPB1*44:01, allele DPB1*45:01, allele DPB1*52:01, allele DPB1*54:01, allele DPB1*55:01, allele DPB1*56:01, allele DPB1*58:01, allele DPB1*66:01, allele DPB1*67:01, allele DPB1*69:01, allele DPB1*70:01, allele DPB1*74:01, allele DPB1*76:01, allele DPB1*78:01, allele DPB1*79:01, allele DPB1*85:01, allele DPB1*86:01, allele DPB1*87:01, allele DPB1*88:01, allele DPB1*91:01, allele DPB1*92:01, allele DPB1*93:01 and allele DPB1*98:01; requires 2 nucleotide substitutions.
up seq anno comments: In allele DPB1*03:01, allele DPB1*05:02, allele DPB1*06:01, allele DPB1*09:01, allele DPB1*10:02, allele DPB1*14:01, allele DPB1*14:02, allele DPB1*17:01, allele DPB1*20:01, allele DPB1*22:02, allele DPB1*29:01, allele DPB1*35:01, allele DPB1*44:01, allele DPB1*46:01, allele DPB1*50:01, allele DPB1*57:01, allele DPB1*69:01, allele DPB1*70:01, allele DPB1*76:01, allele DPB1*78:01, allele DPB1*80:01, allele DPB1*86:01, allele DPB1*88:01, allele DPB1*91:01, allele DPB1*92:01 and allele DPB1*98:01.
up seq anno comments: In allele DPB1*04:02.
up seq anno comments: In allele DPB1*05:01 and allele DPB1*19:01.
up seq anno comments: In allele DPB1*08:02, allele DPB1*09:02, allele DPB1*13:01, allele DPB1*13:02 and allele DPB1*19:01.
up seq anno comments: In allele DPB1*09:01, allele DPB1*10:01, allele DPB1*14:01, allele DPB1*16:02, allele DPB1*17:01, allele DPB1*22:02, allele DPB1*30:01, allele DPB1*35:01, allele DPB1*45:01, allele DPB1*54:01, allele DPB1*55:01, allele DPB1*58:01, allele DPB1*66:01, allele DPB1*67:01, allele DPB1*76:01, allele DPB1*86:01, allele DPB1*91:01 and allele DPB1*98:01; requires 2 nucleotide substitutions.
up seq anno comments: In allele DPB1*09:02.
up seq anno comments: In allele DPB1*11:01, allele DPB1*15:01, allele DPB1*69:01 and allele DPB1*74:01.
up seq anno comments: In allele DPB1*14:02 and allele DPB1*21:02.
up seq anno comments: In allele DPB1*15:01, allele DPB1*18:01, allele DPB1*28:01, allele DPB1*34:01, allele DPB1*40:01, allele DPB1*53:01, allele DPB1*62:01 and allele DPB1*74:01.
up seq anno comments: In allele DPB1*15:01.
up seq anno comments: In allele DPB1*18:02.
up seq anno comments: In allele DPB1*22:02; requires 2 nucleotide substitutions.
up seq anno comments: In allele DPB1*24:02.
up seq anno comments: In allele DPB1*26:02.
up seq anno comments: In allele DPB1*31:01 and allele DPB1*34:01.
up seq anno comments: In allele DPB1*32:01.
up seq anno comments: In allele DPB1*38:01.
up seq anno comments: In allele DPB1*60:01.
up seq anno comments: In allele DPB1*70:01; requires 2 nucleotide substitutions.
up seq anno comments: In allele DPB1*75:01.
up seq anno comments: In allele DPB1*75:01; requires 2 nucleotide substitutions.
up seq anno comments: In allele DPB1*77:01.
up seq anno comments: In allele DPB1*78:01.
up seq anno comments: In allele DPB1*82:01 and allele DPB1*85:01.
up seq anno comments: In allele DPB1*94:01.
up seq anno comments: In allele DPB1*96:01.
up seq anno comments: In allele DPB1*97:01.
up seq anno comments: In allele DPB1*99:01.
up seq anno comments: Ind allele DPB1*11:01, allele DPB1*15:01 and allele DPB1*74:01.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000018984
up seq anno feature ids: PRO_5015093999
up seq anno feature ids: VAR_033433
up seq anno feature ids: VAR_033434
up seq anno feature ids: VAR_033435
up seq anno feature ids: VAR_033436

9606:MACROH2A2
gene id: 9606:MACROH2A2
uniprot id: A0A024QZP6
uniprot id: Q9P0M6
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 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: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Core histone macro-H2A.2
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: Histone H2A
up seq anno comments: Macro
up seq anno comments: N6-lactoyllysine; alternate
up seq anno feature ids: PRO_0000055320

9606:ASH2L
gene id: 9606:ASH2L
uniprot id: B4DPT1
uniprot id: F5H8F7
uniprot id: Q9UBL3
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: Secondary Structure
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: 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 methylation.
up seq anno comments: Asymmetric dimethylarginine; by PRMT1 and PRMT5
up seq anno comments: B30.2/SPRY
up seq anno comments: Basic and acidic residues
up seq anno comments: C4-type
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: PHD-type; atypical
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Set1/Ash2 histone methyltransferase complex subunit ASH2
up seq anno comments: Slightly decreased methylation.
up seq anno feature ids: PRO_0000064697
up seq anno feature ids: VAR_050679
up seq anno feature ids: VSP_007577
up seq anno feature ids: VSP_007578

9606:VIPR2
gene id: 9606:VIPR2
uniprot id: P41587
uniprot id: X5D7Q6
uniprot id: X5DP12
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: Secondary Structure
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: 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: G_PROTEIN_RECEP_F2_3
up seq anno comments: G_PROTEIN_RECEP_F2_4
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: Vasoactive intestinal polypeptide receptor 2
up seq anno feature ids: PRO_0000012860
up seq anno feature ids: PRO_5004953877
up seq anno feature ids: PRO_5004955936
up seq anno feature ids: VAR_011811
up seq anno feature ids: VAR_011812
up seq anno feature ids: VSP_056684
up seq anno feature ids: VSP_056685

9606:ASTE1
gene id: 9606:ASTE1
uniprot id: D6RG30
uniprot id: Q2TB18
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 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: Protein asteroid homolog 1
up seq anno comments: XPGN
up seq anno comments: XPG_I_2
up seq anno feature ids: PRO_0000310458
up seq anno feature ids: VSP_056699
up seq anno feature ids: VSP_056700

9606:KRTAP12-3
gene id: 9606:KRTAP12-3
uniprot id: P60328
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
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: 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 12-3
up seq anno feature ids: PRO_0000185198
up seq anno feature ids: VAR_017592

9606:OR52N1
gene id: 9606:OR52N1
uniprot id: Q8NH53
up 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 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 52N1
up seq anno feature ids: PRO_0000150786
up seq anno feature ids: VAR_024149
up seq anno feature ids: VAR_034351
up seq anno feature ids: VAR_053335
up seq anno feature ids: VAR_053336
up seq anno feature ids: VAR_053337

9606:CDK15
gene id: 9606:CDK15
uniprot id: Q96Q40
up 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 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: Splice Variant
up seq anno comments: Cyclin-dependent kinase 15
up seq anno comments: In a breast infiltrating ductal carcinoma sample; somatic mutation.
up seq anno comments: In a renal clear cell carcinoma sample; somatic mutation.
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: Protein kinase
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000085619
up seq anno feature ids: VAR_042016
up seq anno feature ids: VAR_042017
up seq anno feature ids: VAR_042018
up seq anno feature ids: VAR_042019
up seq anno feature ids: VAR_042020
up seq anno feature ids: VSP_023745
up seq anno feature ids: VSP_038765
up seq anno feature ids: VSP_047226
up seq anno feature ids: VSP_059406
up seq anno feature ids: VSP_059407
up seq anno feature ids: VSP_059408

9606:TAFA1
gene id: 9606:TAFA1
uniprot id: Q7Z5A9
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno comments: Chemokine-like protein TAFA-1
up seq anno feature ids: PRO_0000042721

9606:CAVIN4
gene id: 9606:CAVIN4
uniprot id: Q5BKX8
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 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: Sequence Conflict
up seq anno comments: Basic and acidic residues
up seq anno comments: Caveolae-associated protein 4
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_0000325763

9606:MT1HL1
gene id: 9606:MT1HL1
uniprot id: P0DM35
up seq anno parent labels: Modification
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 labels: Modified Residue
up seq anno comments: Metallothionein 1H-like protein 1
up seq anno comments: N-acetylmethionine
up seq anno feature ids: PRO_0000422542

9606:CLCN6
gene id: 9606:CLCN6
uniprot id: P51797
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: 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: INTRAMEM
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: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Abolishes N-glycosylation; when associated with A-410 and A-422.
up seq anno comments: Abolishes N-glycosylation; when associated with A-410 and A-432.
up seq anno comments: Abolishes N-glycosylation; when associated with A-422 and A-432.
up seq anno comments: Abolishes proton transport, but not chloride transport. Strongly increases anion current; when associated with S-576.
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 6
up seq anno comments: Helical
up seq anno comments: In CONRIBA; strongly slowed gating and increased current amplitudes.
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: Increases the nitrate/chloride conductance ratio.
up seq anno comments: Loss of proton and chloride transport.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Note=Loop between two helices
up seq anno comments: Phosphoserine
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 comments: Strongly increases anion current; when associated with A-200.
up seq anno feature ids: PRO_0000094449
up seq anno feature ids: VAR_023051
up seq anno feature ids: VAR_085384
up seq anno feature ids: VSP_001043
up seq anno feature ids: VSP_001044
up seq anno feature ids: VSP_001045
up seq anno feature ids: VSP_001046
up seq anno feature ids: VSP_001047
up seq anno feature ids: VSP_001048
up seq anno feature ids: VSP_017188
up seq anno feature ids: VSP_047169

9606:BHLHE41
gene id: 9606:BHLHE41
uniprot id: A0A024RAV8
uniprot id: Q8TAT1
uniprot id: Q9C0J9
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 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: Sequence Variant
up seq anno comments: Abolishes RXRA repression.
up seq anno comments: Associated with short sleep phenotype; abolishes inhibition of CLOCK-BMAL1 and NPAS2/BMAL1 transactivation activities.
up seq anno comments: Associated with short sleep phenotype; heterogeneous phenotype; increases inhibition of CLOCK-BMAL1 and NPAS2/BMAL1 transactivation activities.
up seq anno comments: BHLH
up seq anno comments: Basic and acidic residues
up seq anno comments: Class E basic helix-loop-helix protein 41
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Orange
up seq anno comments: bHLH
up seq anno feature ids: PRO_0000127147
up seq anno feature ids: VAR_063259
up seq anno feature ids: VAR_082585
up seq anno feature ids: VAR_082586

9606:ULBP2
gene id: 9606:ULBP2
uniprot id: Q9BZM5
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
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: Mutagenesis Site
up seq anno labels: Propeptide
up seq anno labels: Signal Peptide
up seq anno comments: GPI-anchor amidated serine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Not secreted.
up seq anno comments: Removed in mature form
up seq anno comments: Secreted.
up seq anno comments: UL16-binding protein 2
up seq anno feature ids: PRO_0000019017
up seq anno feature ids: PRO_0000019018

9606:ZNF789
gene id: 9606:ZNF789
uniprot id: Q5FWF6
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 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: In isoform 3.
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 789
up seq anno feature ids: PRO_0000293697
up seq anno feature ids: VAR_052903
up seq anno feature ids: VSP_026561
up seq anno feature ids: VSP_046816
up seq anno feature ids: VSP_046817

9606:NLRP8
gene id: 9606:NLRP8
uniprot id: Q86W28
up 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 labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Repeat
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 a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
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: NACHT
up seq anno comments: NACHT, LRR and PYD domains-containing protein 8
up seq anno comments: Pyrin
up seq anno feature ids: PRO_0000282990
up seq anno feature ids: VAR_031452
up seq anno feature ids: VAR_031453
up seq anno feature ids: VAR_031454
up seq anno feature ids: VAR_031455
up seq anno feature ids: VAR_031456
up seq anno feature ids: VAR_031457
up seq anno feature ids: VAR_031458
up seq anno feature ids: VAR_036383
up seq anno feature ids: VAR_036384
up seq anno feature ids: VAR_036385
up seq anno feature ids: VAR_053618
up seq anno feature ids: VAR_053619
up seq anno feature ids: VSP_024274

9606:SPOP
gene id: 9606:SPOP
uniprot id: O43791
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 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: Turn
up seq anno comments: BTB
up seq anno comments: In NSDVS1; gain-of-function, reduced BET proteins stability.
up seq anno comments: In NSDVS2; dominant-negative, increased BET proteins stability.
up seq anno comments: MATH
up seq anno comments: Speckle-type POZ protein
up seq anno comments: Strongly reduced affinity for substrate proteins.
up seq anno comments: Strongly reduced homodimerization. Reduces the activity of the cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex.
up seq anno feature ids: PRO_0000191621
up seq anno feature ids: VAR_083851
up seq anno feature ids: VAR_083852
up seq anno feature ids: VAR_083853
up seq anno feature ids: VAR_083854
up seq anno feature ids: VAR_083855
up seq anno feature ids: VAR_083856

9606:DSCC1
gene id: 9606:DSCC1
uniprot id: Q9BVC3
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno comments: Sister chromatid cohesion protein DCC1
up seq anno feature ids: PRO_0000318064
up seq anno feature ids: VAR_038682

9606:XCL1
gene id: 9606:XCL1
uniprot id: P47992
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Secondary Structure
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Helix
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Lymphotactin
up seq anno feature ids: PRO_0000005248

9606:PITX1
gene id: 9606:PITX1
uniprot id: P78337
uniprot id: X5D9A5
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 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: Motif
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Homeobox
up seq anno comments: In CCF; reduces the ability to transactivate a luciferase reporter gene; suppresses wild-type activity in a dose-dependent manner.
up seq anno comments: N-acetylmethionine
up seq anno comments: Nuclear localization signal
up seq anno comments: OAR
up seq anno comments: Phosphoserine
up seq anno comments: Pituitary homeobox 1
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000049218
up seq anno feature ids: VAR_049586
up seq anno feature ids: VAR_058113

9606:OR1C1
gene id: 9606:OR1C1
uniprot id: A0A126GV94
uniprot id: Q15619
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 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_RECEP_F1_2
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:EIF2B2
gene id: 9606:EIF2B2
uniprot id: P49770
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: Secondary Structure
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: Found in a patient with Rett syndrome-like phenotype; unknown pathological significance.
up seq anno comments: In VWM.
up seq anno comments: In VWM; with and without ovarian failure.
up seq anno comments: In VWM; with ovarian failure.
up seq anno comments: Translation initiation factor eIF-2B subunit beta
up seq anno feature ids: PRO_0000156061
up seq anno feature ids: VAR_012289
up seq anno feature ids: VAR_012290
up seq anno feature ids: VAR_012321
up seq anno feature ids: VAR_012322
up seq anno feature ids: VAR_016842
up seq anno feature ids: VAR_068451
up seq anno feature ids: VAR_068452
up seq anno feature ids: VAR_068453
up seq anno feature ids: VAR_068454
up seq anno feature ids: VAR_079034

9606:GRINA
gene id: 9606:GRINA
uniprot id: Q7Z429
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Pro residues
up seq anno comments: Protein lifeguard 1
up seq anno feature ids: PRO_0000314439
up seq anno feature ids: VAR_037875

9606:PLD5
gene id: 9606:PLD5
uniprot id: A0A024R3S7
uniprot id: Q8N7P1
up 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 labels: Chain
up seq anno labels: Domain Extent
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: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Inactive phospholipase D5
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: PLD phosphodiesterase
up seq anno comments: PLD phosphodiesterase 1
up seq anno comments: PLD phosphodiesterase 2
up seq anno feature ids: PRO_0000288606
up seq anno feature ids: VSP_025724
up seq anno feature ids: VSP_025725
up seq anno feature ids: VSP_025726
up seq anno feature ids: VSP_025727

9606:TRUB2
gene id: 9606:TRUB2
uniprot id: A0A024R886
uniprot id: O95900
up 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 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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transit Peptide
up seq anno comments: In isoform 2.
up seq anno comments: Mitochondrion
up seq anno comments: Nucleophile
up seq anno comments: Polar residues
up seq anno comments: Pseudouridylate synthase TRUB2, mitochondrial
up seq anno comments: TruB_N
up seq anno feature ids: PRO_0000252090
up seq anno feature ids: VAR_027749
up seq anno feature ids: VAR_051608
up seq anno feature ids: VAR_051609
up seq anno feature ids: VSP_056094

9606:FOXD1
gene id: 9606:FOXD1
uniprot id: Q16676
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Sequence Variant
up seq anno comments: Acidic residues
up seq anno comments: Decreased activation of transcription from PGF and C3 promoters.
up seq anno comments: Fork-head
up seq anno comments: Forkhead box protein D1
up seq anno comments: Increased activation of transcription from the C3 promoter but no effect on the PGF promoter.
up seq anno feature ids: PRO_0000091811
up seq anno feature ids: VAR_077596
up seq anno feature ids: VAR_077597
up seq anno feature ids: VAR_077598
up seq anno feature ids: VAR_077599
up seq anno feature ids: VAR_077600
up seq anno feature ids: VAR_077601
up seq anno feature ids: VAR_077602
up seq anno feature ids: VAR_077603
up seq anno feature ids: VAR_077604
up seq anno feature ids: VAR_077605
up seq anno feature ids: VAR_077606
up seq anno feature ids: VAR_077607

9606:HSPA4
gene id: 9606:HSPA4
uniprot id: P34932
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Heat shock 70 kDa protein 4
up seq anno comments: In isoform 2.
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-methyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno feature ids: PRO_0000078262
up seq anno feature ids: VSP_056885

9606:MTHFD1L
gene id: 9606:MTHFD1L
uniprot id: A0A087WVM4
uniprot id: B2RD24
uniprot id: B7ZM99
uniprot id: Q6UB35
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: 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 labels: Transit Peptide
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Mitochondrion
up seq anno comments: Monofunctional C1-tetrahydrofolate synthase, mitochondrial
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: THF_DHG_CYH
up seq anno comments: THF_DHG_CYH_C
up seq anno feature ids: PRO_0000343177
up seq anno feature ids: VAR_044346
up seq anno feature ids: VSP_034565
up seq anno feature ids: VSP_034566

9606:RANGAP1
gene id: 9606:RANGAP1
uniprot id: A0A024R1U0
uniprot id: P46060
uniprot id: Q9BSK3
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: Secondary Structure
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: Non-terminal Residue
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno comments: Abolishes RAN GTPase activation.
up seq anno comments: Acidic residues
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: 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: Loss of cross-link to SUMO1. Abolishes association with nuclear pores during interphase, and with mitotic spindles during mitosis.
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: No effect on phosphorylation.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by CDK2
up seq anno comments: Ran GTPase-activating protein 1
up seq anno comments: RanGAP1_C
up seq anno comments: Removed
up seq anno comments: SUMO conjugation
up seq anno comments: Strongly decreased phosphorylation. No effect on sumoylation.
up seq anno feature ids: PRO_0000056737
up seq anno feature ids: VAR_029240

9606:S100A7
gene id: 9606:S100A7
uniprot id: P31151
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: Secondary Structure
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: Helix
up seq anno labels: Initiator Methionine
up seq anno labels: Mass
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: EF-hand 1
up seq anno comments: EF-hand 2
up seq anno comments: N-acetylserine
up seq anno comments: Protein S100-A7
up seq anno comments: Removed
up seq anno feature ids: PRO_0000143990
up seq anno feature ids: VAR_039118

9606:INPP5D
gene id: 9606:INPP5D
uniprot id: Q92835
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: Secondary Structure
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: 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: Basic and acidic residues
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In one patient with acute myeloid leukemya; somatic mutation.
up seq anno comments: NPXY motif 1
up seq anno comments: NPXY motif 2
up seq anno comments: Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1
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: SH2
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_0000302866
up seq anno feature ids: VAR_034979
up seq anno feature ids: VAR_059358
up seq anno feature ids: VSP_027977
up seq anno feature ids: VSP_027978
up seq anno feature ids: VSP_027979

9606:OPLAH
gene id: 9606:OPLAH
uniprot id: O14841
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: 5-oxoprolinase
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000208577
up seq anno feature ids: VAR_050425

9606:DLD
gene id: 9606:DLD
uniprot id: A0A024R713
uniprot id: E9PEX6
uniprot id: P09622
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: Secondary Structure
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: 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 dihydrolipoyl dehydrogenase activity. Does not affect interaction with PDHX.
up seq anno comments: Decreases dehydrogenase activity. Loss of proteolytic activity.
up seq anno comments: Dihydrolipoyl dehydrogenase, mitochondrial
up seq anno comments: Does not affect dihydrolipoyl dehydrogenase activity.
up seq anno comments: Does not affect interaction with PDHX.
up seq anno comments: In DLDD.
up seq anno comments: In DLDD; loss of enzyme activity; abolished interaction with PDHX.
up seq anno comments: In DLDD; loss of enzyme activity; reduced interaction with PDHX.
up seq anno comments: In DLDD; no effect on interaction with PDHX.
up seq anno comments: In DLDD; reduced dehydrogenase activity; increased proteolytic activity.
up seq anno comments: In DLDD; reduced dihydrolipoyl dehydrogenase activity; no effect on interaction with PDHX.
up seq anno comments: In DLDD; reduced enzyme activity.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of dehydrogenase activity. Increases proteolytic activity.
up seq anno comments: Loss of proteolytic activity. Does not affect dehydrogenase 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: Phosphoserine
up seq anno comments: Proton acceptor
up seq anno comments: Pyr_redox_2
up seq anno comments: Pyr_redox_dim
up seq anno comments: Redox-active
up seq anno comments: Reduces dihydrolipoyl dehydrogenase activity.
up seq anno comments: Reduces dihydrolipoyl dehydrogenase activity. Does not affect interaction with PDHX.
up seq anno comments: Reduces interaction with PDHX. Inhibits multienzyme pyruvate dehydrogenase complex activity. Does not affect dihydrolipoyl dehydrogenase activity.
up seq anno feature ids: PRO_0000030295
up seq anno feature ids: VAR_006907
up seq anno feature ids: VAR_006908
up seq anno feature ids: VAR_014555
up seq anno feature ids: VAR_015820
up seq anno feature ids: VAR_015821
up seq anno feature ids: VAR_031922
up seq anno feature ids: VAR_076985
up seq anno feature ids: VAR_076986
up seq anno feature ids: VAR_076987
up seq anno feature ids: VAR_076988
up seq anno feature ids: VAR_076989
up seq anno feature ids: VAR_076990
up seq anno feature ids: VAR_076991
up seq anno feature ids: VSP_055855
up seq anno feature ids: VSP_055856

9606:ZBTB42
gene id: 9606:ZBTB42
uniprot id: B2RXF5
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 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: 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: 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:ARHGAP28
gene id: 9606:ARHGAP28
uniprot id: B4DXL2
up seq anno parent labels: Region
up seq anno labels: Domain Extent
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: Rho-GAP

9606:SERINC3
gene id: 9606:SERINC3
uniprot id: Q13530
up 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 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: 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: Serine incorporator 3
up seq anno feature ids: PRO_0000218970
up seq anno feature ids: VAR_014315
up seq anno feature ids: VSP_056833

9606:COL19A1
gene id: 9606:COL19A1
uniprot id: Q14993
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Signal Peptide
up seq anno comments: Basic and acidic residues
up seq anno comments: Cell attachment site
up seq anno comments: Collagen alpha-1(XIX) chain
up seq anno comments: Collagen-like 1
up seq anno comments: Collagen-like 10
up seq anno comments: Collagen-like 11
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 8
up seq anno comments: Collagen-like 9
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: Laminin G-like
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000005797
up seq anno feature ids: VAR_024419
up seq anno feature ids: VAR_035746
up seq anno feature ids: VAR_035747
up seq anno feature ids: VAR_048782
up seq anno feature ids: VAR_048783

9606:MCEE
gene id: 9606:MCEE
uniprot id: Q96PE7
up 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: 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: Transit Peptide
up seq anno comments: Methylmalonyl-CoA epimerase, mitochondrial
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: VOC
up seq anno feature ids: PRO_0000012283
up seq anno feature ids: VAR_019511
up seq anno feature ids: VAR_049248

9606:PRRT1
gene id: 9606:PRRT1
uniprot id: A0A1U9X8D6
uniprot id: Q99946
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Extracellular
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: Pro residues
up seq anno comments: Proline-rich transmembrane protein 1
up seq anno feature ids: PRO_0000135697
up seq anno feature ids: VAR_036212
up seq anno feature ids: VSP_003808

9606:FOXP1
gene id: 9606:FOXP1
uniprot id: A0A3B3IT66
uniprot id: Q548T7
uniprot id: Q8N2P0
uniprot id: Q8TEA2
uniprot id: Q9H334
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: Secondary Structure
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: 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: Does not affect nuclear localization; no loss of transcriptional repression activity; no loss of ability to self-associate; no loss of interaction with FOXP2.
up seq anno comments: FOXP-CC
up seq anno comments: Fork-head
up seq anno comments: Forkhead box protein P1
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In MRLIAF; nuclear and cytoplasmic aggregation; loss of transcriptional repression activity; loss of ability to self-associate; loss of interaction with FOXP2.
up seq anno comments: In MRLIAF; unknown pathological significance; does not affect nuclear localization; no loss of transcriptional repression activity; no loss of ability to self-associate; no loss of interaction with FOXP2.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: In isoform 3 and isoform 6.
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: Likely benign variant; does not affect nuclear localization; no loss of transcriptional repression activity; no loss of ability to self-associate; no loss of interaction with FOXP2.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000091877
up seq anno feature ids: VAR_065067
up seq anno feature ids: VAR_065068
up seq anno feature ids: VAR_065069
up seq anno feature ids: VAR_065070
up seq anno feature ids: VAR_065071
up seq anno feature ids: VAR_065072
up seq anno feature ids: VAR_065073
up seq anno feature ids: VAR_065074
up seq anno feature ids: VAR_065075
up seq anno feature ids: VAR_075246
up seq anno feature ids: VAR_075247
up seq anno feature ids: VAR_075248
up seq anno feature ids: VAR_075249
up seq anno feature ids: VSP_001555
up seq anno feature ids: VSP_001556
up seq anno feature ids: VSP_043462
up seq anno feature ids: VSP_043463
up seq anno feature ids: VSP_046930
up seq anno feature ids: VSP_057341

9606:CA2
gene id: 9606:CA2
uniprot id: P00918
uniprot id: V9HW21
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: Secondary Structure
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: 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: 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: 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: 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
up seq anno feature ids: VAR_001382
up seq anno feature ids: VAR_001383
up seq anno feature ids: VAR_001384
up seq anno feature ids: VAR_021009
up seq anno feature ids: VAR_021010

9606:HOXD12
gene id: 9606:HOXD12
uniprot id: P35452
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 labels: Chain
up seq anno labels: DNA Binding
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Homeobox
up seq anno comments: Homeobox protein Hox-D12
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000200238
up seq anno feature ids: VAR_071211
up seq anno feature ids: VSP_056816

9606:CTXN3
gene id: 9606:CTXN3
uniprot id: Q4LDR2
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
up seq anno comments: Cortexin-3
up seq anno comments: Helical
up seq anno feature ids: PRO_0000284513
up seq anno feature ids: VAR_031763
up seq anno feature ids: VAR_053885

9606:PHF12
gene id: 9606:PHF12
uniprot id: C9J9G2
uniprot id: Q96QT6
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: Secondary Structure
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: 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: FHA
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 and isoform 5.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: PHD finger protein 12
up seq anno comments: PHD-type
up seq anno comments: PHD-type 1
up seq anno comments: PHD-type 2; atypical
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000059302
up seq anno feature ids: VSP_051767
up seq anno feature ids: VSP_051768
up seq anno feature ids: VSP_051769
up seq anno feature ids: VSP_051770
up seq anno feature ids: VSP_051771
up seq anno feature ids: VSP_051772

9606:LILRA1
gene id: 9606:LILRA1
uniprot id: O75019
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 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 C2-type 3
up seq anno comments: Ig-like C2-type 4
up seq anno comments: In isoform 2.
up seq anno comments: Leukocyte immunoglobulin-like receptor subfamily A member 1
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000014816
up seq anno feature ids: VAR_049886
up seq anno feature ids: VAR_049887
up seq anno feature ids: VAR_059396
up seq anno feature ids: VSP_008454

9606:TRIM25
gene id: 9606:TRIM25
uniprot id: Q14258
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: Secondary Structure
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: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: B30.2/SPRY
up seq anno comments: Basic and acidic residues
up seq anno comments: E3 ubiquitin/ISG15 ligase TRIM25
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ISG15)
up seq anno comments: N6-acetyllysine
up seq anno comments: No ISGylation.
up seq anno comments: No effect on ISGylation.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: RING-type
up seq anno feature ids: PRO_0000056233
up seq anno feature ids: VAR_024614
up seq anno feature ids: VAR_024615

9606:SLC22A1
gene id: 9606:SLC22A1
uniprot id: O15245
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 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 Variant
up seq anno labels: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Affects MPP uptake; reduction of the MPP uptake when associated with V-408.
up seq anno comments: Affects transporter activity; reduction of the MPP uptake when associated with V-408.
up seq anno comments: Affects transporter activity; reduction of the TEA uptake; reduction of the MPP uptake when associated with V-408; largely localized to the plasma membrane.
up seq anno comments: Affects transporter activity; reduction of the serotonin uptake; no MPP uptake when associated with L-160.
up seq anno comments: Cytoplasmic
up seq anno comments: Does not affect transporter activity; no changes in the MPP uptake when associated with F-14; no changes in the MPP uptake when associated with F-85; no changes in the MPP uptake when associated with L-189; no changes in the MPP uptake when associated with His-342; no changes in the MPP uptake when associated with M-420 del; no changes in the MPP uptake when associated with I-440; no changes in the MPP uptake when associated with I-461; no changes in the MPP uptake when associated with M-488; reduction of the MPP uptake when associated with C-61; no MPP uptake when associated with V-220; reduction of the MPP uptake when associated with L-341; no MPP uptake when associated with S-401; no MPP uptake when associated with R-465.
up seq anno comments: Exclusively found in the African American population; increase of the MPP uptake when associated with V-408.
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: No changes in both TEA and MPP uptake; abolishes MPP uptake when associated with S-401; largely localized to the plasma membrane.
up seq anno comments: No changes in the MPP uptake when associated with V-408.
up seq anno comments: No changes in the MPP uptake.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Reduction of the localization to the basolateral membrane; no MPP uptake when associated with V-408.
up seq anno comments: Solute carrier family 22 member 1
up seq anno feature ids: PRO_0000333875
up seq anno feature ids: VAR_043319
up seq anno feature ids: VAR_043320
up seq anno feature ids: VAR_043321
up seq anno feature ids: VAR_043322
up seq anno feature ids: VAR_043323
up seq anno feature ids: VAR_043324
up seq anno feature ids: VAR_043325
up seq anno feature ids: VAR_043326
up seq anno feature ids: VAR_043327
up seq anno feature ids: VAR_043328
up seq anno feature ids: VAR_043329
up seq anno feature ids: VAR_043330
up seq anno feature ids: VAR_043331
up seq anno feature ids: VAR_043332
up seq anno feature ids: VAR_043333
up seq anno feature ids: VAR_043334
up seq anno feature ids: VAR_043335
up seq anno feature ids: VAR_043336
up seq anno feature ids: VAR_043337
up seq anno feature ids: VSP_033587
up seq anno feature ids: VSP_033588
up seq anno feature ids: VSP_033589
up seq anno feature ids: VSP_033590

9606:CACNG3
gene id: 9606:CACNG3
uniprot id: O60359
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: Modified Residue
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: Phosphoserine
up seq anno comments: Voltage-dependent calcium channel gamma-3 subunit
up seq anno feature ids: PRO_0000164675

9606:SWAP70
gene id: 9606:SWAP70
uniprot id: B3KUB9
uniprot id: E7EMB1
uniprot id: Q9UH65
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 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:PRND
gene id: 9606:PRND
uniprot id: A7U7M2
uniprot id: Q9UKY0
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: Secondary Structure
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: Strand
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: GPI-anchor amidated glycine
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: O-linked (GalNAc...) threonine
up seq anno comments: Prion-like protein doppel
up seq anno comments: Prion/Doppel_prot_b-ribbon_dom
up seq anno comments: Removed in mature form
up seq anno feature ids: PRO_0000025745
up seq anno feature ids: PRO_0000025746
up seq anno feature ids: VAR_013765
up seq anno feature ids: VAR_013766
up seq anno feature ids: VAR_013767
up seq anno feature ids: VAR_013769
up seq anno feature ids: VAR_013770
up seq anno feature ids: VAR_013771
up seq anno feature ids: VAR_013772
up seq anno feature ids: VAR_013773

9606:C4orf45
gene id: 9606:C4orf45
uniprot id: Q96LM5
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Uncharacterized protein C4orf45
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:SLC30A10
gene id: 9606:SLC30A10
uniprot id: B3KR19
uniprot id: Q6XR72
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 labels: Chain
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: Abolishes cell surface localization.
up seq anno comments: Abolishes manganese efflux activity.
up seq anno comments: Abolishes manganese efflux activity; when associated with A-127.
up seq anno comments: Abolishes manganese efflux activity; when associated with A-244.
up seq anno comments: Cytoplasmic
up seq anno comments: Decreases interaction with SLC30A3; no effect on self-association; decreases zinc transport; decreases EGF-induced ERK1/2 phosphorylation.
up seq anno comments: Decreases manganese efflux activity.
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In HMNDYT1.
up seq anno comments: In HMNDYT1; abolishes cell surface localization.
up seq anno comments: In HMNDYT1; abolishes cell surface localization; decreases manganese efflux; decreases protection against manganese-induced neurotoxity.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Zinc transporter 10
up seq anno feature ids: PRO_0000312580
up seq anno feature ids: VAR_072573
up seq anno feature ids: VAR_072574
up seq anno feature ids: VAR_072575
up seq anno feature ids: VAR_072576
up seq anno feature ids: VAR_072577
up seq anno feature ids: VSP_029863
up seq anno feature ids: VSP_029864
up seq anno feature ids: VSP_029865

9606:NEK8
gene id: 9606:NEK8
uniprot id: Q86SG6
up 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: 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: Repeat
up seq anno labels: Sequence Variant
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:LEFTY2
gene id: 9606:LEFTY2
uniprot id: A1NY82
uniprot id: O00292
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 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: 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 LRAM.
up seq anno comments: In isoform 2.
up seq anno comments: Left-right determination factor
up seq anno comments: Left-right determination factor 2
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Or 135
up seq anno comments: TGF_BETA_2
up seq anno feature ids: PRO_0000033806
up seq anno feature ids: PRO_0000033807
up seq anno feature ids: PRO_5035416635
up seq anno feature ids: VAR_010385
up seq anno feature ids: VAR_021980
up seq anno feature ids: VAR_021981
up seq anno feature ids: VSP_045264

9606:HIP1
gene id: 9606:HIP1
uniprot id: B4DK46
uniprot id: O00291
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: Secondary Structure
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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Turn
up seq anno comments: Abolishes 3-phosphoinositide-binding; when associated with E-56.
up seq anno comments: Abolishes 3-phosphoinositide-binding; when associated with E-58.
up seq anno comments: Abolishes HIP1-induced cell death.
up seq anno comments: ENTH
up seq anno comments: Huntingtin-interacting protein 1
up seq anno comments: I/LWEQ
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Phosphoserine
up seq anno comments: Reduces AR-induced nuclear translocation.
up seq anno feature ids: PRO_0000083986
up seq anno feature ids: VAR_051032
up seq anno feature ids: VSP_044736
up seq anno feature ids: VSP_057400

9606:CLEC2A
gene id: 9606:CLEC2A
uniprot id: Q6UVW9
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: Secondary Structure
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:SLC25A47
gene id: 9606:SLC25A47
uniprot id: Q6Q0C1
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Repeat
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
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: Solcar 1
up seq anno comments: Solcar 2
up seq anno comments: Solcar 3
up seq anno comments: Solute carrier family 25 member 47
up seq anno feature ids: PRO_0000291779
up seq anno feature ids: VSP_026233
up seq anno feature ids: VSP_026234

9606:GHRHR
gene id: 9606:GHRHR
uniprot id: A0A090N8Y6
uniprot id: Q02643
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: Secondary Structure
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: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: G_PROTEIN_RECEP_F2_3
up seq anno comments: G_PROTEIN_RECEP_F2_4
up seq anno comments: Growth hormone-releasing hormone receptor
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 IGHD4.
up seq anno comments: In IGHD4; reduced cAMP response to GHRH.
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_0000012828
up seq anno feature ids: PRO_5010017639
up seq anno feature ids: VAR_015796
up seq anno feature ids: VAR_015797
up seq anno feature ids: VAR_015798
up seq anno feature ids: VAR_015799
up seq anno feature ids: VAR_015800
up seq anno feature ids: VAR_033962
up seq anno feature ids: VAR_033963
up seq anno feature ids: VAR_033964
up seq anno feature ids: VAR_033965
up seq anno feature ids: VAR_036223
up seq anno feature ids: VAR_081172

9606:TMEM51
gene id: 9606:TMEM51
uniprot id: A0A024QZ97
uniprot id: Q9BSA0
uniprot id: Q9NW97
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Polar residues
up seq anno comments: Transmembrane protein 51
up seq anno feature ids: PRO_0000072577
up seq anno feature ids: VAR_051446
up seq anno feature ids: VAR_051447

9606:FAM151B
gene id: 9606:FAM151B
uniprot id: Q6UXP7
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno comments: Protein FAM151B
up seq anno feature ids: PRO_0000317105
up seq anno feature ids: VAR_053992

9606:NOTCH2NLA
gene id: 9606:NOTCH2NLA
uniprot id: P0DPK4
uniprot id: Q7Z3S9
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 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 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; calcium-binding
up seq anno comments: EGF-like 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: Notch homolog 2 N-terminal-like protein A
up seq anno comments: Notch homolog 2 N-terminal-like protein C
up seq anno feature ids: PRO_0000337103
up seq anno feature ids: PRO_0000445071
up seq anno feature ids: VAR_043601
up seq anno feature ids: VAR_043602
up seq anno feature ids: VAR_043603
up seq anno feature ids: VAR_043604
up seq anno feature ids: VSP_033895
up seq anno feature ids: VSP_033896
up seq anno feature ids: VSP_061522

9606:LILRA4
gene id: 9606:LILRA4
uniprot id: P59901
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 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: 3'-nitrotyrosine
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 C2-type 3
up seq anno comments: Ig-like C2-type 4
up seq anno comments: In isoform 2.
up seq anno comments: Leukocyte immunoglobulin-like receptor subfamily A member 4
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000014819
up seq anno feature ids: VAR_056054
up seq anno feature ids: VAR_056055
up seq anno feature ids: VSP_038694

9606:TMEM230
gene id: 9606:TMEM230
uniprot id: A0A087WTT2
uniprot id: Q96A57
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Helical
up seq anno comments: In PARK; sporadic case; unknown pathological significance; results in decreased synaptic vesicle trafficking.
up seq anno comments: In PARK; unknown pathological significance; results in decreased synaptic vesicle trafficking.
up seq anno comments: In isoform 1.
up seq anno comments: Phosphoserine
up seq anno comments: Transmembrane protein 230
up seq anno feature ids: PRO_0000233892
up seq anno feature ids: VAR_076713
up seq anno feature ids: VAR_076714
up seq anno feature ids: VAR_076715
up seq anno feature ids: VAR_082923
up seq anno feature ids: VSP_018155

9606:KLK6
gene id: 9606:KLK6
uniprot id: A0A024R4J8
uniprot id: Q92876
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: Secondary Structure
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: Glycosylation Site
up seq anno labels: Helix
up seq anno labels: Mass
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: 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: Kallikrein-6
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Peptidase S1
up seq anno feature ids: PRO_0000027940
up seq anno feature ids: PRO_0000027941
up seq anno feature ids: PRO_5001536614
up seq anno feature ids: VAR_061776
up seq anno feature ids: VSP_034403
up seq anno feature ids: VSP_034404
up seq anno feature ids: VSP_034405

9606:RIN3
gene id: 9606:RIN3
uniprot id: Q6NSK7
uniprot id: Q6ZRC2
uniprot id: Q86U22
uniprot id: Q8TB24
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 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: 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: In isoform 4.
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Ras and Rab interactor 3
up seq anno comments: Ras-associating
up seq anno comments: SH2
up seq anno comments: Strongly reduced guanine nucleotide exchange factor activity toward RAB31; when associated with A-825.
up seq anno comments: Strongly reduced guanine nucleotide exchange factor activity toward RAB31; when associated with A-828.
up seq anno comments: VPS9
up seq anno feature ids: PRO_0000191322
up seq anno feature ids: VAR_046645
up seq anno feature ids: VAR_046646
up seq anno feature ids: VAR_046647
up seq anno feature ids: VAR_046648
up seq anno feature ids: VAR_052946
up seq anno feature ids: VAR_059960
up seq anno feature ids: VAR_059961
up seq anno feature ids: VSP_007587
up seq anno feature ids: VSP_007588

9606:ABT1
gene id: 9606:ABT1
uniprot id: A0A024R029
uniprot id: Q9ULW3
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: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno comments: Acidic residues
up seq anno comments: Activator of basal transcription 1
up seq anno comments: Basic and acidic residues
up seq anno comments: N-acetylmethionine
up seq anno comments: RRM
up seq anno feature ids: PRO_0000233168

9606:CCNB2
gene id: 9606:CCNB2
uniprot id: O95067
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno comments: G2/mitotic-specific cyclin-B2
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000080361
up seq anno feature ids: VAR_022221
up seq anno feature ids: VAR_022222
up seq anno feature ids: VAR_053052

9606:SYDE1
gene id: 9606:SYDE1
uniprot id: Q6ZW31
up 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 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: 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: C2
up seq anno comments: In a pancreatic ductal adenocarcinoma sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Pro residues
up seq anno comments: Rho GTPase-activating protein SYDE1
up seq anno comments: Rho-GAP
up seq anno feature ids: PRO_0000312158
up seq anno feature ids: VAR_062661
up seq anno feature ids: VSP_029717

9606:DYNC1LI1
gene id: 9606:DYNC1LI1
uniprot id: E9PHI6
uniprot id: Q9Y6G9
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: Secondary Structure
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: Helix
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Cytoplasmic dynein 1 light intermediate chain 1
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000114666
up seq anno feature ids: VAR_023325
up seq anno feature ids: VAR_061141

9606:EAPP
gene id: 9606:EAPP
uniprot id: Q56P03
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
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: E2F-associated phosphoprotein
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_0000086904
up seq anno feature ids: VAR_031915

9606:ATRN
gene id: 9606:ATRN
uniprot id: B4DZ36
uniprot id: O75882
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 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 labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Attractin
up seq anno comments: C-type lectin
up seq anno comments: CUB
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 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: Laminin EGF-like
up seq anno comments: Laminin EGF-like 1
up seq anno comments: Laminin EGF-like 2
up seq anno comments: N-linked (GlcNAc...) (complex) asparagine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: PSI 1
up seq anno comments: PSI 2
up seq anno comments: PSI 3
up seq anno comments: PSI 4
up seq anno feature ids: PRO_0000007483
up seq anno feature ids: PRO_0000394771
up seq anno feature ids: VAR_048967
up seq anno feature ids: VAR_048968
up seq anno feature ids: VAR_048969
up seq anno feature ids: VAR_048970
up seq anno feature ids: VSP_001372
up seq anno feature ids: VSP_001375

9606:NAA10
gene id: 9606:NAA10
uniprot id: B7Z9N2
uniprot id: P41227
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: Secondary Structure
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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: Abolishes phosphorylation by IKKB and reduces cell growth.
up seq anno comments: Basic and acidic residues
up seq anno comments: In NATD; decreased protein stability; strong decrease in N-terminal acetylation activity in vitro.
up seq anno comments: In NATD; reduced N-terminal acetyltransferase activity; impaired interaction with NAA15 and NAA50; does not affect cytoplasmic localization.
up seq anno comments: In NATD; reduced monomeric N-terminal acetyltransferase activity in vitro.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of its ability to acetylate HSPA1A and HSPA1B.
up seq anno comments: N-acetylmethionine
up seq anno comments: N-acetyltransferase
up seq anno comments: N-alpha-acetyltransferase 10
up seq anno comments: N6-acetyllysine; by autocatalysis
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by IKKB
up seq anno feature ids: PRO_0000074532
up seq anno feature ids: VAR_066652
up seq anno feature ids: VAR_075206
up seq anno feature ids: VAR_082604
up seq anno feature ids: VSP_046205
up seq anno feature ids: VSP_046206

9606:IRF4
gene id: 9606:IRF4
uniprot id: Q15306
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: Secondary Structure
up seq anno labels: Chain
up seq anno labels: DNA Binding
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: IRF tryptophan pentad repeat
up seq anno comments: In isoform 2.
up seq anno comments: Interferon regulatory factor 4
up seq anno comments: Phosphoserine; by ROCK2
up seq anno feature ids: PRO_0000154556
up seq anno feature ids: VSP_002755

9606:GPR35
gene id: 9606:GPR35
uniprot id: A8K2J1
uniprot id: B2RA17
uniprot id: Q9HC97
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 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 receptor 35
up seq anno comments: G_PROTEIN_RECEP_F1_2
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 feature ids: PRO_0000069563
up seq anno feature ids: VAR_013601
up seq anno feature ids: VAR_013602
up seq anno feature ids: VAR_013603
up seq anno feature ids: VAR_013604
up seq anno feature ids: VAR_013605
up seq anno feature ids: VAR_013606
up seq anno feature ids: VAR_033467
up seq anno feature ids: VSP_045871

9606:FPR2
gene id: 9606:FPR2
uniprot id: A0A024R4P3
uniprot id: P25090
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 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: 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: G_PROTEIN_RECEP_F1_2
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 2
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000069451

9606:SESN3
gene id: 9606:SESN3
uniprot id: P58005
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Cysteine sulfenic acid (-SOH) intermediate
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Sestrin-3
up seq anno feature ids: PRO_0000221183
up seq anno feature ids: VAR_051958
up seq anno feature ids: VAR_051959
up seq anno feature ids: VSP_006063
up seq anno feature ids: VSP_006064
up seq anno feature ids: VSP_054563
up seq anno feature ids: VSP_054564

9606:OR4C6
gene id: 9606:OR4C6
uniprot id: A0A126GVN0
uniprot id: Q8NH72
up 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 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_RECEP_F1_2
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 4C6
up seq anno feature ids: PRO_0000150531
up seq anno feature ids: VAR_034191

9606:ADAM12
gene id: 9606:ADAM12
uniprot id: A8K6G4
uniprot id: O43184
uniprot id: Q5JRP2
up 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: 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: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Motif
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: 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 12
up seq anno comments: EGF-like
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 cutaneous metastatic melanoma sample; somatic mutation.
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 4.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Peptidase M12B
up seq anno comments: Phosphotyrosine; by SRC
up seq anno comments: Polar residues
up seq anno comments: SH3-binding; class I
up seq anno comments: SH3-binding; class II
up seq anno comments: in inhibited form
up seq anno feature ids: PRO_0000029078
up seq anno feature ids: PRO_0000029079
up seq anno feature ids: PRO_5002724661
up seq anno feature ids: PRO_5035655660
up seq anno feature ids: VAR_036143
up seq anno feature ids: VAR_036144
up seq anno feature ids: VAR_036145
up seq anno feature ids: VAR_038542
up seq anno feature ids: VAR_066310
up seq anno feature ids: VAR_066311
up seq anno feature ids: VSP_005476
up seq anno feature ids: VSP_005477
up seq anno feature ids: VSP_031001
up seq anno feature ids: VSP_031002
up seq anno feature ids: VSP_031003

9606:COX8C
gene id: 9606:COX8C
uniprot id: Q7Z4L0
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Topological Domain
up seq anno labels: Transit Peptide
up seq anno labels: Transmembrane
up seq anno comments: Cytochrome c oxidase subunit 8C, mitochondrial
up seq anno comments: Helical
up seq anno comments: Mitochondrial intermembrane
up seq anno comments: Mitochondrial matrix
up seq anno comments: Mitochondrion
up seq anno feature ids: PRO_0000006201

9606:U2AF2
gene id: 9606:U2AF2
uniprot id: P26368
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: Secondary Structure
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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 5-hydroxylysine; by JMJD6
up seq anno comments: 5-hydroxylysine; by JMJD6; alternate
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Decreases affinity for UAF1 by 2 orders of magnitude.
up seq anno comments: Decreases affinity for UAF1 by 3 orders of magnitude.
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-acetylserine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: No effect.
up seq anno comments: Phosphoserine
up seq anno comments: RRM 1
up seq anno comments: RRM 2
up seq anno comments: RRM 3
up seq anno comments: Reduces interaction with SF1.
up seq anno comments: Removed
up seq anno comments: Splicing factor U2AF 65 kDa subunit
up seq anno feature ids: PRO_0000081988
up seq anno feature ids: VSP_035414

9606:CCL5
gene id: 9606:CCL5
uniprot id: A0A494C1Q1
uniprot id: D0EI67
uniprot id: P13501
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: Secondary Structure
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: 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: Strand
up seq anno comments: Antagonist of the chemokine receptors CCR1 and CCR3.
up seq anno comments: C-C motif chemokine
up seq anno comments: C-C motif chemokine 5
up seq anno comments: Methionine sulfoxide
up seq anno comments: No effect on inhibition of activity by tick evasin-4.
up seq anno comments: O-glycosylated.
up seq anno comments: O-linked (GalNAc...) serine; partial
up seq anno comments: RANTES(3-68)
up seq anno comments: RANTES(4-68)
up seq anno comments: Reduced inhibition of activity by tick evasin-4.
up seq anno comments: SCY
up seq anno feature ids: PRO_0000005175
up seq anno feature ids: PRO_0000005176
up seq anno feature ids: PRO_0000005177
up seq anno feature ids: PRO_5014205493
up seq anno feature ids: PRO_5019782608
up seq anno feature ids: VAR_043043

9606:ITGAX
gene id: 9606:ITGAX
uniprot id: H3BN02
uniprot id: P20702
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: Secondary Structure
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: Helix
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: 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: 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: GFFKR motif
up seq anno comments: Helical
up seq anno comments: Integrin alpha-X
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Pro residues
up seq anno comments: VWFA
up seq anno feature ids: PRO_0000016294
up seq anno feature ids: PRO_5001424941
up seq anno feature ids: VAR_018672
up seq anno feature ids: VAR_031925
up seq anno feature ids: VAR_031926
up seq anno feature ids: VAR_031927
up seq anno feature ids: VAR_031928
up seq anno feature ids: VAR_049632
up seq anno feature ids: VAR_059363
up seq anno feature ids: VAR_066662

9606:THEM4
gene id: 9606:THEM4
uniprot id: Q5T1C6
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: Secondary Structure
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: 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: Transit Peptide
up seq anno labels: Turn
up seq anno comments: Abolishes cleavage of mitochondrial transit peptide.
up seq anno comments: Abolishes import into the mitochondria.
up seq anno comments: Acyl-coenzyme A thioesterase THEM4
up seq anno comments: Mitochondrion
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-succinyllysine
up seq anno comments: Nearly abolishes enzyme activity. Strongly reduced affinity for myristoyl-CoA.
up seq anno comments: No effect on enzyme activity.
up seq anno comments: Phosphoserine
up seq anno comments: Proton donor/acceptor
up seq anno comments: Reduces enzyme activity.
up seq anno comments: Slightly reduced enzyme activity.
up seq anno comments: Strongly reduced enzyme activity.
up seq anno feature ids: PRO_0000314179
up seq anno feature ids: VAR_037865
up seq anno feature ids: VAR_037866

9606:LIPT2
gene id: 9606:LIPT2
uniprot id: A6NK58
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: 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 Variant
up seq anno labels: Transit Peptide
up seq anno comments: Acyl-thioester intermediate
up seq anno comments: BPL/LPL catalytic
up seq anno comments: In NELABA.
up seq anno comments: Mislocalization to the cytosol; induces apoptotic cell death.
up seq anno comments: Mitochondrion
up seq anno comments: Putative lipoyltransferase 2, mitochondrial
up seq anno feature ids: PRO_0000332305
up seq anno feature ids: VAR_080037
up seq anno feature ids: VAR_080038
up seq anno feature ids: VAR_080039

9606:ESM1
gene id: 9606:ESM1
uniprot id: Q9NQ30
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 labels: Chain
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 labels: Splice Variant
up seq anno comments: Endothelial cell-specific molecule 1
up seq anno comments: IGFBP N-terminal
up seq anno comments: In isoform 2.
up seq anno comments: O-linked (Xyl...) (chondroitin sulfate) serine
up seq anno feature ids: PRO_0000014394
up seq anno feature ids: VSP_042631

9606:ECD
gene id: 9606:ECD
uniprot id: O95905
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Acidic residues
up seq anno comments: Decreases transactivation activity.
up seq anno comments: Greatly impairs in vitro phosphorylation by CK2 and impairs cell cycle regulation activity; when associated with A-503, A-505, A-518, A-572 and A-579.
up seq anno comments: Greatly impairs in vitro phosphorylation by CK2 and impairs cell cycle regulation activity; when associated with A-503, A-505, A-518, A-572 and A-584.
up seq anno comments: Greatly impairs in vitro phosphorylation by CK2 and impairs cell cycle regulation activity; when associated with A-503, A-505, A-518, A-579 and A-584.
up seq anno comments: Greatly impairs in vitro phosphorylation by CK2 and impairs cell cycle regulation activity; when associated with A-503, A-505, A-572, A-579 and A-584.
up seq anno comments: Greatly impairs in vitro phosphorylation by CK2 and impairs cell cycle regulation activity; when associated with A-503, A-518, A-572, A-579 and A-584.
up seq anno comments: Greatly impairs in vitro phosphorylation by CK2 and impairs cell cycle regulation activity; when associated with A-505, A-518, A-572, A-579 and A-584.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Increases transactivation activity.
up seq anno comments: Phosphoserine
up seq anno comments: Protein ecdysoneless homolog
up seq anno feature ids: PRO_0000220844
up seq anno feature ids: VAR_012191
up seq anno feature ids: VAR_051970
up seq anno feature ids: VAR_051971
up seq anno feature ids: VAR_051972
up seq anno feature ids: VAR_051973
up seq anno feature ids: VSP_045670
up seq anno feature ids: VSP_045671

9606:ZNF337
gene id: 9606:ZNF337
uniprot id: A8K5C0
uniprot id: Q6ZUQ0
uniprot id: Q9Y3M9
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: 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 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 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: KRAB
up seq anno comments: Polar residues
up seq anno comments: Zinc finger protein 337
up seq anno feature ids: PRO_0000047540
up seq anno feature ids: VAR_024213
up seq anno feature ids: VAR_052814
up seq anno feature ids: VSP_055949

9606:SLC51B
gene id: 9606:SLC51B
uniprot id: Q86UW2
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
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:SGIP1
gene id: 9606:SGIP1
uniprot id: Q9BQI5
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: Secondary Structure
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: 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: In isoform 2 and isoform 3.
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: MHD
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-containing GRB2-like protein 3-interacting protein 1
up seq anno feature ids: PRO_0000248395
up seq anno feature ids: VAR_027297
up seq anno feature ids: VAR_027298
up seq anno feature ids: VAR_027299
up seq anno feature ids: VAR_027300
up seq anno feature ids: VSP_020273
up seq anno feature ids: VSP_020274
up seq anno feature ids: VSP_020275
up seq anno feature ids: VSP_020276
up seq anno feature ids: VSP_020277
up seq anno feature ids: VSP_020278

9606:ATXN7L1
gene id: 9606:ATXN7L1
uniprot id: A4D0Q3
uniprot id: Q9BTQ8
uniprot id: Q9ULK2
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Splice Variant
up seq anno comments: Ataxin-7-like protein 1
up seq anno comments: Basic and acidic residues
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Polar residues
up seq anno comments: SCA7
up seq anno feature ids: PRO_0000064718
up seq anno feature ids: VSP_032351
up seq anno feature ids: VSP_032352
up seq anno feature ids: VSP_041344
up seq anno feature ids: VSP_041345

9606:CREBZF
gene id: 9606:CREBZF
uniprot id: E9PIM0
uniprot id: Q9NS37
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 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: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno comments: BZIP
up seq anno comments: CREB/ATF bZIP transcription factor
up seq anno comments: Does not interact with HCFC1 and is inefficient at inhibiting CREB3 transcriptional activity. Does not colocalize with CREB3 in promyelocytic leukemia protein nuclear bodies (PML-NB).
up seq anno comments: HCFC1-binding motif (HBM)
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Significantly reduced binding to HCFC1.
up seq anno comments: bZIP
up seq anno feature ids: PRO_0000076645

9606:PLEKHM1
gene id: 9606:PLEKHM1
uniprot id: Q9Y4G2
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: Secondary Structure
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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: Disrupts interaction with RAB7A.
up seq anno comments: Disrupts interaction with Rab7 and no localization to endososmal membranes; when associated with G-1021, G-1024 and G-1032.
up seq anno comments: Disrupts interaction with Rab7 and no localization to endososmal membranes; when associated with G-1021, L-1029 and G-1032.
up seq anno comments: Disrupts interaction with Rab7 and no localization to endososmal membranes; when associated with G-1024, L-1029 and G-1032.
up seq anno comments: Disrupts interaction with Rab7and no localization to endososmal membranes; when associated with G-1021, G-1024 and L-1029.
up seq anno comments: In OPTA3; unknown pathological significance.
up seq anno comments: LIR
up seq anno comments: No effect on interaction with ARL8B. No effect on interaction with RAB7A.
up seq anno comments: PH 1
up seq anno comments: PH 2
up seq anno comments: Phorbol-ester/DAG-type
up seq anno comments: Phosphoserine
up seq anno comments: Pleckstrin homology domain-containing family M member 1
up seq anno comments: Polar residues
up seq anno comments: RUN
up seq anno comments: Reduces interaction with ARL8B. No effect on interaction with RAB7A. Loss of interaction with ARL8B as well as late endosome and lysosome clustering; when associated with A-60.
up seq anno comments: Strongly reduces interaction with ARL8B. No effect on interaction with RAB7A. No effect on late endosome and lysosome clustering. Loss of interaction with ARL8B as well as late endosome and lysosome clustering; when associated with 119-A--A-123.
up seq anno feature ids: PRO_0000309335
up seq anno feature ids: VAR_036932
up seq anno feature ids: VAR_081102

9606:PGM5
gene id: 9606:PGM5
uniprot id: Q15124
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 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: Phosphoglucomutase-like protein 5
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000147787
up seq anno feature ids: VSP_030014
up seq anno feature ids: VSP_030015

9606:LRRC55
gene id: 9606:LRRC55
uniprot id: A0A494C0H1
uniprot id: Q6ZSA7
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: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Repeat
up seq anno labels: Signal Peptide
up seq anno labels: Transmembrane
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: LRRCT
up seq anno comments: LRRNT
up seq anno comments: Leucine-rich repeat-containing protein 55
up seq anno feature ids: PRO_0000232913

9606:MS4A12
gene id: 9606:MS4A12
uniprot id: Q9NXJ0
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 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 12
up seq anno feature ids: PRO_0000158648
up seq anno feature ids: VAR_057653
up seq anno feature ids: VSP_044899

9606:SMOX
gene id: 9606:SMOX
uniprot id: Q9NWM0
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: Site
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: 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: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2 and isoform 4.
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 5.
up seq anno comments: No change in enzymatic activity.
up seq anno comments: Spermine oxidase
up seq anno feature ids: PRO_0000099877
up seq anno feature ids: VAR_019531
up seq anno feature ids: VAR_036546
up seq anno feature ids: VAR_059114
up seq anno feature ids: VSP_011123
up seq anno feature ids: VSP_011124
up seq anno feature ids: VSP_011125
up seq anno feature ids: VSP_011126

9606:XKRX
gene id: 9606:XKRX
uniprot id: Q6PP77
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 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: XK-related protein 2
up seq anno feature ids: PRO_0000190772
up seq anno feature ids: VSP_037520

9606:UBE2D3
gene id: 9606:UBE2D3
uniprot id: A0A024RDH2
uniprot id: D6RAH7
uniprot id: P61077
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: Secondary Structure
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: 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: Abolishes affect lysine reactivity.
up seq anno comments: Activity is restricted HECT-type and not RING-containing E3 ubiquitin-protein ligases. Exhibits ubiquitin transfer with ARIH1 and PRKN.
up seq anno comments: Does not affect lysine reactivity.
up seq anno comments: Glycyl thioester intermediate
up seq anno comments: Has intermediate lysine reactivity.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of function.
up seq anno comments: Strongly impairs lysine reactivity but retains some ability to transfer ubiquitin to BRCA1.
up seq anno comments: UBC core
up seq anno comments: Ubiquitin-conjugating enzyme E2 D3
up seq anno feature ids: PRO_0000082466
up seq anno feature ids: VSP_038096
up seq anno feature ids: VSP_038097

9606:TREH
gene id: 9606:TREH
uniprot id: O43280
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: 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: 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 comments: GPI-anchor amidated serine
up seq anno comments: In isoform 2.
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 comments: Trehalase
up seq anno feature ids: PRO_0000012051
up seq anno feature ids: PRO_0000012052
up seq anno feature ids: VAR_049205
up seq anno feature ids: VAR_049206
up seq anno feature ids: VAR_049207
up seq anno feature ids: VAR_049208
up seq anno feature ids: VAR_061191
up seq anno feature ids: VSP_035440

9606:VIRMA
gene id: 9606:VIRMA
uniprot id: Q69YN4
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Acidic residues
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: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: N-acetylalanine
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: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Protein virilizer homolog
up seq anno comments: Removed
up seq anno feature ids: PRO_0000308605
up seq anno feature ids: VAR_036845
up seq anno feature ids: VSP_029017
up seq anno feature ids: VSP_029018
up seq anno feature ids: VSP_029019
up seq anno feature ids: VSP_029020
up seq anno feature ids: VSP_029021

9606:GLIPR2
gene id: 9606:GLIPR2
uniprot id: A0A087WUM5
uniprot id: A0A088AWP7
uniprot id: Q5VZR0
uniprot id: Q9H4G4
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 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: Lipid Binding
up seq anno labels: Sequence Conflict
up seq anno labels: Strand
up seq anno comments: Basic and acidic residues
up seq anno comments: Golgi-associated plant pathogenesis-related protein 1
up seq anno comments: N-myristoyl glycine
up seq anno comments: Removed
up seq anno comments: SCP
up seq anno feature ids: PRO_0000211524

9606:CEP83
gene id: 9606:CEP83
uniprot id: F8VYN8
uniprot id: Q3B787
uniprot id: Q9Y592
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 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: 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 83 kDa
up seq anno comments: In NPHP18; accumulates in the nucleus.
up seq anno comments: In NPHP18; accumulates in the nucleus; does not interact with CEP164 and IFT20.
up seq anno comments: In NPHP18; does not affect interaction with CEP164 and IFT20.
up seq anno comments: In NPHP18; does not interact with CEP164 and IFT20.
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000234495
up seq anno feature ids: VAR_058397
up seq anno feature ids: VAR_071266
up seq anno feature ids: VAR_071267
up seq anno feature ids: VAR_071268
up seq anno feature ids: VAR_071269
up seq anno feature ids: VAR_071270
up seq anno feature ids: VSP_037760
up seq anno feature ids: VSP_037761
up seq anno feature ids: VSP_037762

9606:NEK11
gene id: 9606:NEK11
uniprot id: B4DDN2
uniprot id: B4DM56
uniprot id: E9PHI8
uniprot id: Q8NG66
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: 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: Domain Extent
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: Basic and acidic residues
up seq anno comments: In a colorectal 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: Loss of kinase activity.
up seq anno comments: Phosphoserine; by CHEK1
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Serine/threonine-protein kinase Nek11
up seq anno feature ids: PRO_0000086438
up seq anno feature ids: VAR_033907
up seq anno feature ids: VAR_040935
up seq anno feature ids: VAR_040936
up seq anno feature ids: VAR_040937
up seq anno feature ids: VAR_040938
up seq anno feature ids: VAR_040939
up seq anno feature ids: VAR_040940
up seq anno feature ids: VAR_040941
up seq anno feature ids: VAR_040942
up seq anno feature ids: VAR_040943
up seq anno feature ids: VAR_040944
up seq anno feature ids: VSP_040080
up seq anno feature ids: VSP_040081
up seq anno feature ids: VSP_051820
up seq anno feature ids: VSP_051821
up seq anno feature ids: VSP_051822
up seq anno feature ids: VSP_051823

9606:NR4A2
gene id: 9606:NR4A2
uniprot id: F1D8N6
uniprot id: F1DAL2
uniprot id: P43354
uniprot id: Q53EL4
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 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: Non-terminal 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 labels: Zinc Finger
up seq anno comments: Bipartite nuclear localization signal (NLS1)
up seq anno comments: In isoform 2.
up seq anno comments: NR C4-type
up seq anno comments: NR LBD
up seq anno comments: Nuclear localization signal (NLS1)
up seq anno comments: Nuclear receptor
up seq anno comments: Nuclear receptor subfamily 4 group A member 2
up seq anno comments: Pro residues
up seq anno comments: nuclear export sequence (NES1)
up seq anno comments: nuclear export sequence (NES2)
up seq anno feature ids: PRO_0000053718
up seq anno feature ids: VSP_056057

9606:TEX11
gene id: 9606:TEX11
uniprot id: Q8IYF3
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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 SPGFX2.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Testis-expressed protein 11
up seq anno feature ids: PRO_0000296955
up seq anno feature ids: VAR_034635
up seq anno feature ids: VAR_034636
up seq anno feature ids: VAR_073889
up seq anno feature ids: VAR_073890
up seq anno feature ids: VSP_027260
up seq anno feature ids: VSP_027261

9606:GPR19
gene id: 9606:GPR19
uniprot id: Q15760
uniprot id: Q6IBH2
up 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 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_RECEP_F1_2
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 19
up seq anno feature ids: PRO_0000069538
up seq anno feature ids: VAR_024256

9606:IGF1
gene id: 9606:IGF1
uniprot id: P05019
uniprot id: Q13429
uniprot id: Q59GC5
uniprot id: Q5U743
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: Secondary Structure
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: 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: Splice Variant
up seq anno labels: Strand
up seq anno comments: Basic and acidic residues
up seq anno comments: Dominant-negative mutant, no effect on IGFR1-binding, defective in integrin-binding and the formation of ternary complex with integrins and IGFR1, defective in inducing IGF1 signaling and cell proliferation, and suppresses activation of IGF1R by insulin and tumorigenesis in vivo; when associated with E-84.
up seq anno comments: Dominant-negative mutant, no effect on IGFR1-binding, defective in integrin-binding and the formation of ternary complex with integrins and IGFR1, defective in inducing IGF1 signaling and cell proliferation, and suppresses activation of IGF1R by insulin and tumorigenesis in vivo; when associated with E-85.
up seq anno comments: E peptide
up seq anno comments: Found in a patient with primordial dwarfism; unknown pathological significance.
up seq anno comments: IlGF
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: Insulin-like growth factor I
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000015663
up seq anno feature ids: PRO_0000015664
up seq anno feature ids: PRO_0000015665
up seq anno feature ids: PRO_5004252488
up seq anno feature ids: PRO_5014102473
up seq anno feature ids: PRO_5014310167
up seq anno feature ids: VAR_013945
up seq anno feature ids: VAR_056113
up seq anno feature ids: VAR_075825
up seq anno feature ids: VSP_039637
up seq anno feature ids: VSP_043317
up seq anno feature ids: VSP_047399

9606:EMC7
gene id: 9606:EMC7
uniprot id: Q9NPA0
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: 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: ER membrane protein complex subunit 7
up seq anno comments: Helical
up seq anno comments: Lumenal
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000240860

9606:CYP3A5
gene id: 9606:CYP3A5
uniprot id: B7Z3P6
uniprot id: P20815
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: Secondary Structure
up seq anno parent labels: 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: Signal Peptide
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Cytochrome P450 3A
up seq anno comments: Cytochrome P450 3A5
up seq anno comments: In allele CYP3A5*2.
up seq anno comments: In allele CYP3A5*4.
up seq anno comments: In allele CYP3A5*8.
up seq anno comments: In allele CYP3A5*9.
up seq anno comments: In isoform 2.
up seq anno comments: axial binding residue
up seq anno feature ids: PRO_0000051787
up seq anno feature ids: PRO_5002863874
up seq anno feature ids: VAR_008365
up seq anno feature ids: VAR_024728
up seq anno feature ids: VAR_024729
up seq anno feature ids: VAR_024730
up seq anno feature ids: VAR_024731
up seq anno feature ids: VAR_024732
up seq anno feature ids: VAR_024733
up seq anno feature ids: VAR_029161
up seq anno feature ids: VAR_029162
up seq anno feature ids: VSP_042734
up seq anno feature ids: VSP_042735

9606:PPP6R3
gene id: 9606:PPP6R3
uniprot id: A0A024R5F3
uniprot id: H7BXH2
uniprot id: Q5H9R7
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: In isoform 3 and isoform 4.
up seq anno comments: In isoform 3, isoform 4 and isoform 6.
up seq anno comments: In isoform 3.
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: Serine/threonine-protein phosphatase 6 regulatory subunit 3
up seq anno feature ids: PRO_0000046100
up seq anno feature ids: VAR_057720
up seq anno feature ids: VSP_017140
up seq anno feature ids: VSP_017141
up seq anno feature ids: VSP_017142
up seq anno feature ids: VSP_017143
up seq anno feature ids: VSP_017144

9606:PPP1CB
gene id: 9606:PPP1CB
uniprot id: P62140
uniprot id: V9HW04
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: 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: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: In NSLH2.
up seq anno comments: In NSLH2; unknown pathological significance.
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphothreonine
up seq anno comments: Proton donor
up seq anno comments: Removed
up seq anno comments: SER_THR_PHOSPHATASE
up seq anno comments: Serine/threonine-protein phosphatase PP1-beta catalytic subunit
up seq anno feature ids: PRO_0000058779
up seq anno feature ids: VAR_076839
up seq anno feature ids: VAR_076840
up seq anno feature ids: VAR_079189
up seq anno feature ids: VAR_079190
up seq anno feature ids: VAR_079191
up seq anno feature ids: VAR_079192

9606:SLC25A29
gene id: 9606:SLC25A29
uniprot id: Q8N8R3
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Repeat
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
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: Mitochondrial basic amino acids transporter
up seq anno comments: Solcar 1
up seq anno comments: Solcar 2
up seq anno comments: Solcar 3
up seq anno feature ids: PRO_0000090632
up seq anno feature ids: VSP_046286
up seq anno feature ids: VSP_046287
up seq anno feature ids: VSP_055335

9606:OSM
gene id: 9606:OSM
uniprot id: B5MCX1
uniprot id: P13725
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: Secondary Structure
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: Propeptide
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Turn
up seq anno comments: Basic residues
up seq anno comments: Inactive.
up seq anno comments: Inhibits propeptide cleavage.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Oncostatin-M
up seq anno feature ids: PRO_0000017720
up seq anno feature ids: PRO_0000017721
up seq anno feature ids: VAR_049782

9606:GLRX5
gene id: 9606:GLRX5
uniprot id: A0A384MDT9
uniprot id: Q86SX6
up 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: 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: Transit Peptide
up seq anno labels: Turn
up seq anno comments: Glutaredoxin
up seq anno comments: Glutaredoxin-related protein 5, mitochondrial
up seq anno comments: In SIDBA3; deficiency in Fe-S cluster synthesis; does not impair ISCU binding.
up seq anno comments: In SPAHGC; no effect on protein abundance in patient cells; probably reduced activity in iron-sulfur cluster assembly that results in reduced production of the lipoate cofactor and protein lipoylation.
up seq anno comments: Mitochondrion
up seq anno comments: N6-succinyllysine
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000141650
up seq anno feature ids: VAR_026125
up seq anno feature ids: VAR_074550
up seq anno feature ids: VAR_074551
up seq anno feature ids: VAR_076672

9606:DAPK1
gene id: 9606:DAPK1
uniprot id: B4DHI4
uniprot id: P53355
uniprot id: Q59H88
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: Secondary Structure
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: Helix
up seq anno labels: Modified Residue
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: 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 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: Death
up seq anno comments: Death-associated protein kinase 1
up seq anno comments: Elevated Ca(2+)-calmodulin binding and Ca(2+)-calmodulin-independent kinase activity. Increases apoptotic 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 activity, apoptotic function and of autophosphorylation.
up seq anno comments: Loss of phosphorylation and significant increase in proapoptotic activity.
up seq anno comments: Minimal effect on activity.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by MAPK1
up seq anno comments: Phosphoserine; by RPS6KA1 and RPS6KA3
up seq anno comments: Phosphoserine; by autocatalysis
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Reduced Ca(2+)-calmodulin binding and Ca(2+)-calmodulin-independent kinase activity. Decreases apoptotic activity.
up seq anno comments: Reduction in proapoptotic activity.
up seq anno comments: Roc
up seq anno feature ids: PRO_0000085910
up seq anno feature ids: VAR_033235
up seq anno feature ids: VAR_040420
up seq anno feature ids: VAR_040421
up seq anno feature ids: VAR_040422
up seq anno feature ids: VAR_040423
up seq anno feature ids: VAR_040424
up seq anno feature ids: VAR_040425
up seq anno feature ids: VAR_040426
up seq anno feature ids: VAR_040427
up seq anno feature ids: VAR_040428
up seq anno feature ids: VAR_040429
up seq anno feature ids: VAR_040430
up seq anno feature ids: VAR_040431
up seq anno feature ids: VAR_040432
up seq anno feature ids: VAR_040433
up seq anno feature ids: VAR_040434
up seq anno feature ids: VAR_040435
up seq anno feature ids: VAR_060693
up seq anno feature ids: VAR_060694
up seq anno feature ids: VSP_042053
up seq anno feature ids: VSP_042054
up seq anno feature ids: VSP_042055
up seq anno feature ids: VSP_042056
up seq anno feature ids: VSP_054478

9606:KLHL18
gene id: 9606:KLHL18
uniprot id: A0A024R2T4
uniprot id: B4DHW4
uniprot id: O94889
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Repeat
up seq anno labels: Splice Variant
up seq anno comments: BACK
up seq anno comments: BTB
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 18
up seq anno feature ids: PRO_0000119122
up seq anno feature ids: VSP_035974

9606:AMN1
gene id: 9606:AMN1
uniprot id: Q8IY45
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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:TSN
gene id: 9606:TSN
uniprot id: Q15631
up 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 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 labels: Turn
up seq anno comments: In isoform 2.
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Translin
up seq anno feature ids: PRO_0000191683
up seq anno feature ids: VSP_044937
up seq anno feature ids: VSP_044938

9606:UBE4A
gene id: 9606:UBE4A
uniprot id: Q14139
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: Secondary Structure
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: 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 NEDHMS.
up seq anno comments: In isoform 2.
up seq anno comments: N6-acetyllysine
up seq anno comments: Polar residues
up seq anno comments: U-box
up seq anno comments: Ubiquitin conjugation factor E4 A
up seq anno feature ids: PRO_0000194990
up seq anno feature ids: VAR_086502
up seq anno feature ids: VAR_086503
up seq anno feature ids: VSP_013673

9606:MAFB
gene id: 9606:MAFB
uniprot id: Q9Y5Q3
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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 comments: Basic residues
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
up seq anno comments: In MCTO.
up seq anno comments: Polar residues
up seq anno comments: Transcription factor MafB
up seq anno comments: bZIP
up seq anno feature ids: PRO_0000076494
up seq anno feature ids: VAR_067979
up seq anno feature ids: VAR_067980
up seq anno feature ids: VAR_067981
up seq anno feature ids: VAR_067982
up seq anno feature ids: VAR_067983
up seq anno feature ids: VAR_067984
up seq anno feature ids: VAR_067985
up seq anno feature ids: VAR_067986
up seq anno feature ids: VAR_067987
up seq anno feature ids: VAR_067988

9606:ERG
gene id: 9606:ERG
uniprot id: A0A0C4DG41
uniprot id: B4DN83
uniprot id: B4DVX5
uniprot id: B5MDW0
uniprot id: P11308
up 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 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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: ETS
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 5 and isoform 6.
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: PNT
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Transcriptional regulator ERG
up seq anno feature ids: PRO_0000204103
up seq anno feature ids: VSP_060677
up seq anno feature ids: VSP_060678
up seq anno feature ids: VSP_060679
up seq anno feature ids: VSP_060680
up seq anno feature ids: VSP_060681
up seq anno feature ids: VSP_060682
up seq anno feature ids: VSP_060683

9606:NLE1
gene id: 9606:NLE1
uniprot id: Q9NVX2
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: 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 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 comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylalanine
up seq anno comments: Notchless protein homolog 1
up seq anno comments: Phosphoserine
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 comments: WD 8
up seq anno feature ids: PRO_0000051098
up seq anno feature ids: VAR_035886
up seq anno feature ids: VAR_057616
up seq anno feature ids: VAR_057617
up seq anno feature ids: VAR_060327
up seq anno feature ids: VAR_060328
up seq anno feature ids: VSP_040555

9606:SMIM14
gene id: 9606:SMIM14
uniprot id: A0A024R9U4
uniprot id: Q96QK8
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Mutagenesis Site
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 N-gly,C; does not creates a N-glycosylation site.
up seq anno comments: In N-gly,N; creates a N-glycosylation site.
up seq anno comments: Lumenal
up seq anno comments: Small integral membrane protein 14
up seq anno feature ids: PRO_0000268816

9606:BRSK2
gene id: 9606:BRSK2
uniprot id: A0A024RCE9
uniprot id: A0A140VJF6
uniprot id: B4DLY3
uniprot id: Q8IWQ3
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: 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: Motif
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Constitutively activated.
up seq anno comments: Constitutively activated. Promotes formation of actin stress fibers.
up seq anno comments: Decreased activation of kinase activity.
up seq anno comments: Decreased phosphorylation. Nearly abolishes stimulation of insulin secretion.
up seq anno comments: In isoform 2, 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: KEN box
up seq anno comments: Loss of catalytic activity. Causes disintegration of actin stress fibers.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by LKB1
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.
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 BRSK2
up seq anno comments: UBA
up seq anno feature ids: PRO_0000085670
up seq anno feature ids: VSP_008154
up seq anno feature ids: VSP_008155
up seq anno feature ids: VSP_008156
up seq anno feature ids: VSP_008157
up seq anno feature ids: VSP_013945
up seq anno feature ids: VSP_022603
up seq anno feature ids: VSP_022604
up seq anno feature ids: VSP_055679

9606:CATSPER1
gene id: 9606:CATSPER1
uniprot id: Q8NEC5
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: INTRAMEM
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: Basic residues
up seq anno comments: Cation channel sperm-associated protein 1
up seq anno comments: Cytoplasmic
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 S4
up seq anno comments: Helical; Name=Segment S5
up seq anno comments: Helical; Name=Segment S6
up seq anno comments: Helical; Pore-forming
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000295674
up seq anno feature ids: VAR_033304
up seq anno feature ids: VAR_033305
up seq anno feature ids: VAR_033306

9606:SAMM50
gene id: 9606:SAMM50
uniprot id: Q9Y512
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 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 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:ZNF426
gene id: 9606:ZNF426
uniprot id: A0A024R7D7
uniprot id: K7EME3
uniprot id: K7ER43
uniprot id: Q59EH4
uniprot id: Q9BUY5
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 labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Non-terminal Residue
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 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: KRAB
up seq anno comments: Zinc finger protein 426
up seq anno feature ids: PRO_0000047576
up seq anno feature ids: VAR_024214
up seq anno feature ids: VAR_052824

9606:ZNF189
gene id: 9606:ZNF189
uniprot id: A0A087X0K2
uniprot id: B7ZLK9
uniprot id: O75820
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 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: 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 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.
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 189
up seq anno feature ids: PRO_0000047444
up seq anno feature ids: VAR_025403
up seq anno feature ids: VSP_006899
up seq anno feature ids: VSP_006900
up seq anno feature ids: VSP_006901

9606:RAB39B
gene id: 9606:RAB39B
uniprot id: Q96DA2
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: Secondary Structure
up seq anno parent labels: Site
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: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Constitutively active mutant locked in the active GTP-bound form.
up seq anno comments: Cysteine methyl ester
up seq anno comments: Dominant negative mutant.
up seq anno comments: Effector region
up seq anno comments: In WSMN.
up seq anno comments: In WSMN; impaired localization to cytoplasmic vesicles.
up seq anno comments: In WSMN; loss of function mutation; expression of the mutation in neuroblastoma cells results in low levels of the mutant protein.
up seq anno comments: Phosphoserine
up seq anno comments: Ras-related protein Rab-39B
up seq anno comments: S-geranylgeranyl cysteine
up seq anno feature ids: PRO_0000121255
up seq anno feature ids: VAR_073264
up seq anno feature ids: VAR_078514
up seq anno feature ids: VAR_078515

9606:RASA1
gene id: 9606:RASA1
uniprot id: P20936
uniprot id: Q59GK3
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: Secondary Structure
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 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: C2
up seq anno comments: In CMAVM1.
up seq anno comments: In CMAVM1; unknown pathological significance.
up seq anno comments: In basal cell carcinomas.
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: PH
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Ras GTPase-activating protein 1
up seq anno comments: Ras-GAP
up seq anno comments: SH2
up seq anno comments: SH2 1
up seq anno comments: SH2 2
up seq anno comments: SH3
up seq anno feature ids: PRO_0000056636
up seq anno feature ids: VAR_002650
up seq anno feature ids: VAR_002651
up seq anno feature ids: VAR_002652
up seq anno feature ids: VAR_017744
up seq anno feature ids: VAR_072088
up seq anno feature ids: VAR_072089
up seq anno feature ids: VAR_072090
up seq anno feature ids: VAR_072091
up seq anno feature ids: VSP_001625
up seq anno feature ids: VSP_001626
up seq anno feature ids: VSP_057432
up seq anno feature ids: VSP_057433
up seq anno feature ids: VSP_057434
up seq anno feature ids: VSP_057435

9606:ARMC12
gene id: 9606:ARMC12
uniprot id: Q5T9G4
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 labels: Chain
up seq anno labels: Mutagenesis Site
up seq anno labels: Repeat
up seq anno labels: Splice Variant
up seq anno comments: ARM 1
up seq anno comments: ARM 2
up seq anno comments: ARM 3
up seq anno comments: Armadillo repeat-containing protein 12
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of interaction with RBBP4.
up seq anno feature ids: PRO_0000230163
up seq anno feature ids: VSP_017800
up seq anno feature ids: VSP_017801

9606:TLL1
gene id: 9606:TLL1
uniprot id: B7ZLW3
uniprot id: O43897
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: Secondary Structure
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: 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: CUB
up seq anno comments: CUB 1
up seq anno comments: CUB 2
up seq anno comments: CUB 3
up seq anno comments: CUB 4
up seq anno comments: CUB 5
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: In ASD6.
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: Peptidase M12A
up seq anno comments: Tolloid-like protein 1
up seq anno feature ids: PRO_0000046023
up seq anno feature ids: PRO_0000046024
up seq anno feature ids: VAR_036142
up seq anno feature ids: VAR_051585
up seq anno feature ids: VAR_062519
up seq anno feature ids: VAR_062520
up seq anno feature ids: VAR_062521
up seq anno feature ids: VSP_017197
up seq anno feature ids: VSP_017198

9606:OR2B3
gene id: 9606:OR2B3
uniprot id: A0A126GV76
uniprot id: O76000
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: 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_RECEP_F1_2
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:LAPTM4A
gene id: 9606:LAPTM4A
uniprot id: Q15012
uniprot id: Q6IBP4
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: Modified Residue
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: Lysosomal-associated transmembrane protein 4A
up seq anno comments: N-acetylmethionine
up seq anno feature ids: PRO_0000096637

9606:KLHL36
gene id: 9606:KLHL36
uniprot id: Q8N4N3
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 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: BACK
up seq anno comments: BTB
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 36
up seq anno feature ids: PRO_0000274691
up seq anno feature ids: VSP_022867

9606:EDAR
gene id: 9606:EDAR
uniprot id: Q9UNE0
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 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: 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: Associated with increase in hair thickness; results in decreased downstream activity of NFKB1 48 hours after transfection into cells.
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Death
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In ECTD10A and ECTD10B; abolishes NF-kappa-B activation and reduces JNK activation.
up seq anno comments: In ECTD10B.
up seq anno comments: In ECTD10B; the mutant protein does not interact with EDARADD and is functionally inactive.
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: Reduces activation of NF-kappa-B.
up seq anno comments: TNFR-Cys 1
up seq anno comments: TNFR-Cys 2
up seq anno comments: TNFR-Cys 3
up seq anno comments: Tumor necrosis factor receptor superfamily member EDAR
up seq anno feature ids: PRO_0000034608
up seq anno feature ids: VAR_013448
up seq anno feature ids: VAR_013449
up seq anno feature ids: VAR_013450
up seq anno feature ids: VAR_020011
up seq anno feature ids: VAR_054444
up seq anno feature ids: VAR_054445
up seq anno feature ids: VAR_054446
up seq anno feature ids: VAR_054447
up seq anno feature ids: VAR_054448
up seq anno feature ids: VAR_054449
up seq anno feature ids: VAR_054450
up seq anno feature ids: VAR_054451
up seq anno feature ids: VAR_054452
up seq anno feature ids: VAR_054453
up seq anno feature ids: VAR_064830
up seq anno feature ids: VAR_064831
up seq anno feature ids: VAR_064832
up seq anno feature ids: VAR_064833
up seq anno feature ids: VAR_064834
up seq anno feature ids: VAR_077562
up seq anno feature ids: VSP_054187

9606:XAB2
gene id: 9606:XAB2
uniprot id: Q9HCS7
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: Secondary Structure
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: 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: Acidic residues
up seq anno comments: HAT 1
up seq anno comments: HAT 10
up seq anno comments: HAT 11
up seq anno comments: HAT 12
up seq anno comments: HAT 13
up seq anno comments: HAT 14
up seq anno comments: HAT 2
up seq anno comments: HAT 3
up seq anno comments: HAT 4
up seq anno comments: HAT 5
up seq anno comments: HAT 6
up seq anno comments: HAT 7
up seq anno comments: HAT 8
up seq anno comments: HAT 9
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Pre-mRNA-splicing factor SYF1
up seq anno feature ids: PRO_0000106414
up seq anno feature ids: VAR_016248
up seq anno feature ids: VAR_016249
up seq anno feature ids: VAR_016250

9606:FOXI2
gene id: 9606:FOXI2
uniprot id: Q6ZQN5
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 comments: Fork-head
up seq anno comments: Forkhead box protein I2
up seq anno feature ids: PRO_0000320118

9606:TFPI2
gene id: 9606:TFPI2
uniprot id: P48307
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: Secondary Structure
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: BPTI/Kunitz inhibitor 1
up seq anno comments: BPTI/Kunitz inhibitor 2
up seq anno comments: BPTI/Kunitz inhibitor 3
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Tissue factor pathway inhibitor 2
up seq anno feature ids: PRO_0000016876
up seq anno feature ids: VAR_012005
up seq anno feature ids: VAR_050064
up seq anno feature ids: VSP_056031

9606:DNAH6
gene id: 9606:DNAH6
uniprot id: Q9C0G6
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: Site
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 comments: Dynein axonemal heavy chain 6
up seq anno comments: Found in a patient with azoospermia; 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 feature ids: PRO_0000317665
up seq anno feature ids: VAR_080035
up seq anno feature ids: VSP_031122
up seq anno feature ids: VSP_031123
up seq anno feature ids: VSP_031124
up seq anno feature ids: VSP_031125
up seq anno feature ids: VSP_031126
up seq anno feature ids: VSP_031127
up seq anno feature ids: VSP_031128
up seq anno feature ids: VSP_031129
up seq anno feature ids: VSP_031130

9606:PTGDR
gene id: 9606:PTGDR
uniprot id: Q13258
up 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 labels: Chain
up seq anno labels: Disulfide Bond
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=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: Prostaglandin D2 receptor
up seq anno feature ids: PRO_0000070047
up seq anno feature ids: VAR_033482
up seq anno feature ids: VAR_033483
up seq anno feature ids: VAR_054975
up seq anno feature ids: VAR_054976
up seq anno feature ids: VSP_055141
up seq anno feature ids: VSP_055142

9606:SCLY
gene id: 9606:SCLY
uniprot id: A0A0A0MQU4
uniprot id: B4DDP9
uniprot id: Q59FK2
uniprot id: Q96I15
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: Secondary Structure
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: Helix
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 labels: Strand
up seq anno labels: Turn
up seq anno comments: Aminotran_5
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylmethionine
up seq anno comments: N6-(pyridoxal phosphate)lysine
up seq anno comments: Phosphoserine
up seq anno comments: S-selanylcysteine intermediate
up seq anno comments: Selenocysteine lyase
up seq anno feature ids: PRO_0000317012
up seq anno feature ids: VAR_038464
up seq anno feature ids: VAR_038465
up seq anno feature ids: VAR_038466
up seq anno feature ids: VSP_030854

9606:HTRA1
gene id: 9606:HTRA1
uniprot id: Q92743
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: Secondary Structure
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: 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: Strand
up seq anno labels: Turn
up seq anno comments: Charge relay system
up seq anno comments: IGFBP N-terminal
up seq anno comments: In CADASIL2.
up seq anno comments: In CADASIL2; loss of proteolytic activity.
up seq anno comments: In CADASIL2; partial loss of proteolytic activity.
up seq anno comments: In CADASIL2; unknown pathological significance; small decrease, if any, in proteolytic activity.
up seq anno comments: In CARASIL; has 21 to 50% normal protease activity; is unable to suppress TGF-beta activity.
up seq anno comments: Kazal-like
up seq anno comments: Loss of activity.
up seq anno comments: PDZ
up seq anno comments: Serine protease HTRA1
up seq anno feature ids: PRO_0000026943
up seq anno feature ids: VAR_063148
up seq anno feature ids: VAR_063149
up seq anno feature ids: VAR_076371
up seq anno feature ids: VAR_076372
up seq anno feature ids: VAR_076373
up seq anno feature ids: VAR_076374
up seq anno feature ids: VAR_076375
up seq anno feature ids: VAR_076376
up seq anno feature ids: VAR_076377
up seq anno feature ids: VAR_076378
up seq anno feature ids: VAR_076379
up seq anno feature ids: VAR_076380
up seq anno feature ids: VAR_076381
up seq anno feature ids: VAR_076382

9606:CTTN
gene id: 9606:CTTN
uniprot id: A0A024R5M3
uniprot id: Q14247
uniprot id: Q53HG7
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: Secondary Structure
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: Non-terminal 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 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
up seq anno comments: Cortactin 5
up seq anno comments: Cortactin 6
up seq anno comments: Cortactin 7; truncated
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); alternate
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 2.
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: Phosphotyrosine; by FAK1
up seq anno comments: Phosphotyrosine; by SRC
up seq anno comments: SH3
up seq anno comments: Src substrate cortactin
up seq anno feature ids: PRO_0000072189
up seq anno feature ids: VSP_043120
up seq anno feature ids: VSP_043121

9606:PRAMEF18
gene id: 9606:PRAMEF18
uniprot id: Q5VWM3
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
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 18
up seq anno feature ids: PRO_0000290163

9606:BCDIN3D
gene id: 9606:BCDIN3D
uniprot id: Q7Z5W3
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: 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 Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolished O-methyltransferase activity.
up seq anno comments: Bin3-type SAM
up seq anno comments: Decreased O-methyltransferase activity.
up seq anno comments: RNA 5'-monophosphate methyltransferase
up seq anno comments: Slightly decreased O-methyltransferase activity.
up seq anno comments: Strongly decreased O-methyltransferase activity.
up seq anno feature ids: PRO_0000289265
up seq anno feature ids: VAR_032614

9606:GLMN
gene id: 9606:GLMN
uniprot id: Q92990
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: 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 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: Disrupts interaction with RBX1. Loss of inhibition of SCF (SKP1-Cullin-F-box protein) E3 ubiquitin-protein ligase activity.
up seq anno comments: Glomulin
up seq anno comments: In GVMs; loss of interaction with CUL1 and RBX1.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of interaction with FKBP4 and FKBP1A.
up seq anno comments: N-acetylalanine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000087513
up seq anno feature ids: VAR_017241
up seq anno feature ids: VAR_061653
up seq anno feature ids: VSP_008882
up seq anno feature ids: VSP_008883

9606:GREB1
gene id: 9606:GREB1
uniprot id: Q4ZG55
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 labels: Chain
up seq anno labels: Compositionally Biased 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: 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: Polar residues
up seq anno comments: Protein GREB1
up seq anno feature ids: PRO_0000320944
up seq anno feature ids: VAR_039313
up seq anno feature ids: VAR_039314
up seq anno feature ids: VAR_039315
up seq anno feature ids: VAR_039316
up seq anno feature ids: VAR_039317
up seq anno feature ids: VAR_039318
up seq anno feature ids: VAR_039319
up seq anno feature ids: VAR_061654
up seq anno feature ids: VAR_061655
up seq anno feature ids: VSP_031757
up seq anno feature ids: VSP_031758
up seq anno feature ids: VSP_031759
up seq anno feature ids: VSP_031760
up seq anno feature ids: VSP_031761

9606:VTA1
gene id: 9606:VTA1
uniprot id: A0A087WY55
uniprot id: Q9NP79
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: Secondary Structure
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: 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: N-acetylalanine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno comments: Vacuolar protein sorting-associated protein VTA1 homolog
up seq anno comments: Vta1
up seq anno comments: Vta1_C
up seq anno feature ids: PRO_0000089509
up seq anno feature ids: VAR_053917
up seq anno feature ids: VSP_056727
up seq anno feature ids: VSP_056728

9606:PLAG1
gene id: 9606:PLAG1
uniprot id: A0A024R7Z0
uniprot id: Q6DJT9
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Domain Extent
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: Zinc Finger
up seq anno comments: Abolishes single and double sumoylation; nuclear localization conserved. Increases transcriptional activity and inhibits repression domain activity; when associated with R-263 and R-353.
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: C2H2-type 7
up seq anno comments: Decreases sumoylation; Abolishes double sumoylation only; Nuclear localization conserved. Increases transcriptional activity and inhibits repression domain activity; when associated with R-244 and R-353.
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: Inhibition of KPNA2 interaction when mutation occurs in the NLS; decreased nuclear import with localization in the nucleus but also in the cytoplasm; Complete inhibition of nuclear import when associated with a lack of zinc-finger domains.
up seq anno comments: No effect on sumoylation. Increases transcriptional activity and inhibits repression domain activity; when associated with R-244 and R-263.
up seq anno comments: No effect on transcription activation capacity.
up seq anno comments: No inhibition of KPNA2 interaction and no change in nuclear import.
up seq anno comments: Nuclear localization signal
up seq anno comments: Polar residues
up seq anno comments: Prevents formation of functional zinc-finger 3; induces drastic decrease of DNA affinity and complete modification of DNA binding specificity.
up seq anno comments: Prevents formation of functional zinc-finger 7 and inhibits DNA binding; No proliferation and transformation of cultured cells.
up seq anno comments: Zinc finger protein PLAG1
up seq anno feature ids: PRO_0000295107
up seq anno feature ids: VAR_033212
up seq anno feature ids: VSP_045183

9606:ADAR
gene id: 9606:ADAR
uniprot id: P55265
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: Secondary Structure
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: 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: A to I editase
up seq anno comments: Abolishes interaction with TNPO1, TNPO1-mediated nuclear import and nuclear location.
up seq anno comments: Abolishes nuclear location.
up seq anno comments: Abolishes sumoylation.
up seq anno comments: Asymmetric dimethylarginine
up seq anno comments: Basic and acidic residues
up seq anno comments: DRBM 1
up seq anno comments: DRBM 2
up seq anno comments: DRBM 3
up seq anno comments: Decreased nuclear and partially cytoplasmic location.
up seq anno comments: Disrupts nuclear localization signal. No effect on RNA binding.
up seq anno comments: Disrupts the bi-partite nuclear localization signal and abolishes nuclear location.
up seq anno comments: Disrupts the bi-partite nuclear localization signal and abolishes nuclear location; when associated with N-716 and N-723.
up seq anno comments: Disrupts the bi-partite nuclear localization signal and abolishes nuclear location; when associated with N-716 and S-719.
up seq anno comments: Disrupts the bi-partite nuclear localization signal and abolishes nuclear location; when associated with S-719 and N-723.
up seq anno comments: Double-stranded RNA-specific adenosine deaminase
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 AGS6.
up seq anno comments: In DSH.
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 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5.
up seq anno comments: No effect on nuclear location. No effect on RNA binding.
up seq anno comments: No effect on nuclear location; when associated with A-718 and A-721.
up seq anno comments: No effect on nuclear location; when associated with A-721 and A-724.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Proton donor
up seq anno comments: Strongly impaired RNA binding. No effect on nuclear location.
up seq anno comments: Z-binding 1
up seq anno comments: Z-binding 2
up seq anno feature ids: PRO_0000171774
up seq anno feature ids: VAR_017240
up seq anno feature ids: VAR_017604
up seq anno feature ids: VAR_017605
up seq anno feature ids: VAR_021729
up seq anno feature ids: VAR_024407
up seq anno feature ids: VAR_026669
up seq anno feature ids: VAR_035805
up seq anno feature ids: VAR_048725
up seq anno feature ids: VAR_069535
up seq anno feature ids: VAR_069536
up seq anno feature ids: VAR_069537
up seq anno feature ids: VAR_069538
up seq anno feature ids: VAR_069539
up seq anno feature ids: VAR_069540
up seq anno feature ids: VAR_069541
up seq anno feature ids: VAR_069542
up seq anno feature ids: VSP_008872
up seq anno feature ids: VSP_008873
up seq anno feature ids: VSP_008874
up seq anno feature ids: VSP_019235

9606:C2orf78
gene id: 9606:C2orf78
uniprot id: A6NCI8
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 comments: Basic and acidic residues
up seq anno comments: Polar residues
up seq anno comments: Uncharacterized protein C2orf78
up seq anno feature ids: PRO_0000319422

9606:SNORC
gene id: 9606:SNORC
uniprot id: A0A6M4NK13
uniprot id: Q6UX34
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
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: Protein SNORC
up seq anno feature ids: PRO_0000317641
up seq anno feature ids: PRO_5026745110

9606:C10orf120
gene id: 9606:C10orf120
uniprot id: Q5SQS8
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Uncharacterized protein C10orf120
up seq anno feature ids: PRO_0000243940
up seq anno feature ids: VAR_050859
up seq anno feature ids: VAR_050860

9606:KISS1
gene id: 9606:KISS1
uniprot id: Q15726
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Peptide
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: In HH13; significantly reduced efficacy as well as potency.
up seq anno comments: Kisspeptin-10
up seq anno comments: Kisspeptin-13
up seq anno comments: Kisspeptin-14
up seq anno comments: Metastasis-suppressor KiSS-1
up seq anno comments: Metastin
up seq anno comments: Phenylalanine amide
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000021544
up seq anno feature ids: PRO_0000021545
up seq anno feature ids: PRO_0000021546
up seq anno feature ids: PRO_0000021547
up seq anno feature ids: PRO_0000021548
up seq anno feature ids: VAR_021396
up seq anno feature ids: VAR_021397
up seq anno feature ids: VAR_021398
up seq anno feature ids: VAR_069179

9606:CCDC14
gene id: 9606:CCDC14
uniprot id: Q49A88
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic residues
up seq anno comments: Coiled-coil domain-containing protein 14
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: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000333043
up seq anno feature ids: VAR_043116
up seq anno feature ids: VSP_033455
up seq anno feature ids: VSP_033456
up seq anno feature ids: VSP_033457
up seq anno feature ids: VSP_033458
up seq anno feature ids: VSP_033459
up seq anno feature ids: VSP_033460
up seq anno feature ids: VSP_039080

9606:CXCL1
gene id: 9606:CXCL1
uniprot id: P09341
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Secondary Structure
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Helix
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: GRO-alpha(4-73)
up seq anno comments: GRO-alpha(5-73)
up seq anno comments: GRO-alpha(6-73)
up seq anno comments: Growth-regulated alpha protein
up seq anno feature ids: PRO_0000005049
up seq anno feature ids: PRO_0000005050
up seq anno feature ids: PRO_0000005051
up seq anno feature ids: PRO_0000005052

9606:PDF
gene id: 9606:PDF
uniprot id: A0A024R6Y3
uniprot id: Q9HBH1
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: Site
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: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno comments: Mitochondrion
up seq anno comments: Peptide deformylase
up seq anno comments: Peptide deformylase, mitochondrial
up seq anno feature ids: PRO_0000006729
up seq anno feature ids: PRO_5014214257
up seq anno feature ids: VAR_060122

9606:RPUSD3
gene id: 9606:RPUSD3
uniprot id: Q6P087
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Mitochondrial mRNA pseudouridine synthase RPUSD3
up seq anno comments: Mitochondrion
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000300822
up seq anno feature ids: VAR_034885
up seq anno feature ids: VAR_034886
up seq anno feature ids: VAR_059763
up seq anno feature ids: VSP_027869
up seq anno feature ids: VSP_027870

9606:MYMK
gene id: 9606:MYMK
uniprot id: A6NI61
up 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 labels: Chain
up seq anno labels: Lipid Binding
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 CFZS; decreased localization at the plasma membrane; reduced cell fusion in a heterologous cell fusion assay in vitro compared to wild-type; partially rescues of mymk knockout fish.
up seq anno comments: In CFZS; loss of localization at the plasma membrane; loss of cell fusion in a heterologous cell fusion assay in vitro; no rescue of mymk knockout fish.
up seq anno comments: In CFZS; loss of localization at the plasma membrane; loss of cell fusion in a heterologous cell fusion assay in vitro; no rescue of mymk knockout fish; primary myoblasts from a compound heterozygote associating T-91 and R-185 exhibit no difference in their capability to differentiate compared to control myoblasts, but show a significant difference in the fusion index, with a higher percentage of singly-nucleated relative to multinucleated cells in compound heterozygous compared to control myoblasts.
up seq anno comments: In CFZS; unknown pathological significance.
up seq anno comments: In CFZS; unknown pathological significance; supports cell fusion in a heterologous cell fusion assay in vitro; decreased localization at the plasma membrane; partially rescues of mymk knockout fish; primary myoblasts from a compound heterozygote associating T-91 and R-185 exhibit no difference in their capability to differentiate compared to control myoblasts, but show a significant difference in the fusion index, with a higher percentage of singly-nucleated relative to multinucleated cells in compound heterozygous compared to control myoblasts.
up seq anno comments: Protein myomaker
up seq anno comments: S-palmitoyl cysteine
up seq anno feature ids: PRO_0000319062
up seq anno feature ids: VAR_079262
up seq anno feature ids: VAR_079263
up seq anno feature ids: VAR_079264
up seq anno feature ids: VAR_079265
up seq anno feature ids: VAR_081291

9606:FAM83F
gene id: 9606:FAM83F
uniprot id: Q8NEG4
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 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: 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: In a breast cancer sample; somatic mutation.
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: Protein FAM83F
up seq anno comments: Removed
up seq anno feature ids: PRO_0000314950
up seq anno feature ids: VAR_038134
up seq anno feature ids: VAR_038135
up seq anno feature ids: VAR_038136
up seq anno feature ids: VAR_038137
up seq anno feature ids: VSP_030448

9606:ZNF24
gene id: 9606:ZNF24
uniprot id: P17028
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: Secondary Structure
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 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: 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: Partial cytoplasmic accumulation.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: SCAN box
up seq anno comments: Zinc finger protein 24
up seq anno feature ids: PRO_0000047352
up seq anno feature ids: VAR_012017
up seq anno feature ids: VAR_012018
up seq anno feature ids: VSP_039219
up seq anno feature ids: VSP_039220

9606:SLFN11
gene id: 9606:SLFN11
uniprot id: Q7Z7L1
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: 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 comments: Abolishes ATPase activity without affecting its role in DNA damage response; when associated with A-668.
up seq anno comments: Abolishes ATPase activity without affecting its role in DNA damage response; when associated with M-605.
up seq anno comments: Abolishes ATPase activity, leading to abolish ability to inhibit DNA replication without affecting subcellular location.
up seq anno comments: Schlafen family member 11
up seq anno feature ids: PRO_0000283091
up seq anno feature ids: VAR_031492
up seq anno feature ids: VAR_031493
up seq anno feature ids: VAR_031494
up seq anno feature ids: VAR_062186

9606:TRPC7
gene id: 9606:TRPC7
uniprot id: Q9HCX4
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 labels: Chain
up seq anno labels: Glycosylation Site
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: 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: 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-linked (GlcNAc...) asparagine
up seq anno comments: Phosphothreonine; by PKG/PRKG1
up seq anno comments: Short transient receptor potential channel 7
up seq anno feature ids: PRO_0000215324
up seq anno feature ids: VSP_043035
up seq anno feature ids: VSP_044897

9606:OR6C76
gene id: 9606:OR6C76
uniprot id: A0A126GW16
uniprot id: A6NM76
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: 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_RECEP_F1_2
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 6C76
up seq anno feature ids: PRO_0000310868

9606:NIT2
gene id: 9606:NIT2
uniprot id: Q9NQR4
uniprot id: V9HW91
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: 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:GGTLC1
gene id: 9606:GGTLC1
uniprot id: Q9BX51
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 comments: Glutathione hydrolase light chain 1
up seq anno comments: Nucleophile
up seq anno feature ids: PRO_0000205983

9606:STUM
gene id: 9606:STUM
uniprot id: F8WD64
uniprot id: Q69YW2
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: Modified Residue
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: Phosphoserine
up seq anno comments: Protein stum homolog
up seq anno feature ids: PRO_0000278635

9606:TBXAS1
gene id: 9606:TBXAS1
uniprot id: P24557
uniprot id: Q53F23
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: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
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: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Does not affect thromboxane-A synthase activity. Does not affect heme-binding.
up seq anno comments: Helical
up seq anno comments: In GHDD.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In allele CYP5A1*2.
up seq anno comments: In allele CYP5A1*3.
up seq anno comments: In allele CYP5A1*4.
up seq anno comments: In allele CYP5A1*5; KM value about 1.5 higher for PEG2; Vmax/KM approximately 27% of that of the wild-type.
up seq anno comments: In allele CYP5A1*6; does not affect KM value for PEG2; does not affect Vmax/KM value.
up seq anno comments: In allele CYP5A1*7; does not affect KM value for PEG2; does not affect Vmax/KM value.
up seq anno comments: In allele CYP5A1*8; KM value about 1.5 higher for PEG2; Vmax/KM approximately 56 % of that of the wild-type.
up seq anno comments: In allele CYP5A1*9.
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 thromboxane-A synthase activity. Decreased heme-binding.
up seq anno comments: Lumenal
up seq anno comments: The KM value is about 1.5 higher for PEG2; in allele CYP5A1*5; KM value about 1.5 higher for PEG2; Vmax/KM approximately 50% of that of the wild-type.
up seq anno comments: Thromboxane-A synthase
up seq anno comments: axial binding residue
up seq anno feature ids: PRO_0000052256
up seq anno feature ids: VAR_010919
up seq anno feature ids: VAR_010920
up seq anno feature ids: VAR_010921
up seq anno feature ids: VAR_010922
up seq anno feature ids: VAR_010923
up seq anno feature ids: VAR_010924
up seq anno feature ids: VAR_010925
up seq anno feature ids: VAR_014157
up seq anno feature ids: VAR_014158
up seq anno feature ids: VAR_014159
up seq anno feature ids: VAR_014160
up seq anno feature ids: VAR_014161
up seq anno feature ids: VAR_014647
up seq anno feature ids: VAR_014648
up seq anno feature ids: VAR_014649
up seq anno feature ids: VAR_016158
up seq anno feature ids: VAR_018378
up seq anno feature ids: VAR_018379
up seq anno feature ids: VAR_018380
up seq anno feature ids: VAR_036294
up seq anno feature ids: VAR_044386
up seq anno feature ids: VAR_044387
up seq anno feature ids: VAR_044388
up seq anno feature ids: VAR_044389
up seq anno feature ids: VAR_044390
up seq anno feature ids: VAR_044391
up seq anno feature ids: VAR_055565
up seq anno feature ids: VAR_055566
up seq anno feature ids: VAR_058465
up seq anno feature ids: VAR_058466
up seq anno feature ids: VSP_047217
up seq anno feature ids: VSP_054121
up seq anno feature ids: VSP_054122
up seq anno feature ids: VSP_054123

9606:TICAM2
gene id: 9606:TICAM2
uniprot id: Q86XR7
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: Secondary Structure
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: 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: Basic and acidic residues
up seq anno comments: Complete loss of phosphorylation in response to LPS.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of ability to dimerize. Loss of RANTES-inducing activity and ability to induce NF-kappa-B activation. Inhibition of TLR4-dependent activation of IRF3 and IRF7. Loss of interaction with TLR4.
up seq anno comments: Loss of ability to dimerize. Significant loss of RANTES-inducing activity. Loss of ability to induce NF-kappa-B activation.
up seq anno comments: Loss of phosphorylation. Abolishes ability to activate IRF3 or NF-kappa-B and to transduce TLR4 signal.
up seq anno comments: Loss of phosphorylation. Significant reduction in the ability to activate IRF3 or NF-kappa-B.
up seq anno comments: N-myristoyl glycine
up seq anno comments: No effect on phosphorylation and on the ability to activate IRF3 or NF-kappa-B.
up seq anno comments: No effect on phosphorylation.
up seq anno comments: Phosphoserine; by PKC/PRKCE
up seq anno comments: Phosphotyrosine
up seq anno comments: Removed
up seq anno comments: Results in relocalization from membrane to cytosol; Loss of ability to transduce TLR4-signal. Loss of TLR2-mediated activation of IRF7.
up seq anno comments: Significant decrease of localization in the membrane.
up seq anno comments: TIR
up seq anno comments: TIR domain-containing adapter molecule 2
up seq anno feature ids: PRO_0000317689
up seq anno feature ids: VSP_047437

9606:LRRC8E
gene id: 9606:LRRC8E
uniprot id: Q6NSJ5
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 labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
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: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Alters channel anion selectivity.
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 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: N-linked (GlcNAc...) asparagine
up seq anno comments: Volume-regulated anion channel subunit LRRC8E
up seq anno feature ids: PRO_0000076250
up seq anno feature ids: VAR_056930
up seq anno feature ids: VAR_059695
up seq anno feature ids: VAR_059696
up seq anno feature ids: VAR_060437

9606:FAM189A1
gene id: 9606:FAM189A1
uniprot id: O60320
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
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: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Protein ENTREP2
up seq anno feature ids: PRO_0000314455
up seq anno feature ids: VAR_039544
up seq anno feature ids: VAR_039545
up seq anno feature ids: VAR_059333
up seq anno feature ids: VAR_059334
up seq anno feature ids: VAR_059335
up seq anno feature ids: VSP_030273

9606:TPRG1L
gene id: 9606:TPRG1L
uniprot id: Q5T0D9
up 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 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: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Tumor protein p63-regulated gene 1-like protein
up seq anno comments: hSac2
up seq anno feature ids: PRO_0000269186
up seq anno feature ids: VSP_022019

9606:IREB2
gene id: 9606:IREB2
uniprot id: D3DW85
uniprot id: P48200
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: 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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Aconitase
up seq anno comments: Aconitase_C
up seq anno comments: In NDCAMA; may drastically decrease protein expression level.
up seq anno comments: In isoform 2.
up seq anno comments: Iron-responsive element-binding protein 2
up seq anno feature ids: PRO_0000076684
up seq anno feature ids: VAR_058410
up seq anno feature ids: VAR_082271
up seq anno feature ids: VAR_082272
up seq anno feature ids: VSP_056823
up seq anno feature ids: VSP_056824

9606:TCP11L2
gene id: 9606:TCP11L2
uniprot id: A0A024RBH4
uniprot id: Q8N4U5
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: T-complex protein 11-like protein 2
up seq anno feature ids: PRO_0000313750
up seq anno feature ids: VAR_037728
up seq anno feature ids: VAR_037729
up seq anno feature ids: VAR_037730
up seq anno feature ids: VSP_055736
up seq anno feature ids: VSP_055737

9606:MACIR
gene id: 9606:MACIR
uniprot id: Q96GV9
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno comments: Macrophage immunometabolism regulator
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000316776

9606:PRTN3
gene id: 9606:PRTN3
uniprot id: P24158
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: Secondary Structure
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: 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: Strand
up seq anno labels: Turn
up seq anno comments: Charge relay system
up seq anno comments: Myeloblastin
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Peptidase S1
up seq anno feature ids: PRO_0000027707
up seq anno feature ids: PRO_0000027708
up seq anno feature ids: PRO_0000027709
up seq anno feature ids: VAR_011691
up seq anno feature ids: VAR_011713
up seq anno feature ids: VAR_011714

9606:RAP2B
gene id: 9606:RAP2B
uniprot id: P61225
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: Site
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: Sequence Conflict
up seq anno comments: Cysteine methyl ester
up seq anno comments: Effector region
up seq anno comments: Ras-related protein Rap-2b
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 feature ids: PRO_0000030215
up seq anno feature ids: PRO_0000030216

9606:HAUS3
gene id: 9606:HAUS3
uniprot id: Q68CZ6
up 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 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 Variant
up seq anno labels: Splice Variant
up seq anno comments: HAUS augmin-like complex subunit 3
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000301951
up seq anno feature ids: VAR_034912
up seq anno feature ids: VSP_057022
up seq anno feature ids: VSP_057023

9606:RIPPLY3
gene id: 9606:RIPPLY3
uniprot id: P57055
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Motif
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: In isoform 2.
up seq anno comments: Pro residues
up seq anno comments: Protein ripply3
up seq anno comments: WRPW motif
up seq anno feature ids: PRO_0000080020
up seq anno feature ids: VSP_004205

9606:CYB561
gene id: 9606:CYB561
uniprot id: B3KTA1
uniprot id: J3QRH5
uniprot id: P49447
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: 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 labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytochrome b561
up seq anno comments: Cytoplasmic
up seq anno comments: Helical
up seq anno comments: In ORTHYP2.
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno comments: Transmembrane ascorbate-dependent reductase CYB561
up seq anno comments: Vesicular
up seq anno comments: axial binding residue
up seq anno feature ids: PRO_0000151027
up seq anno feature ids: VAR_081730
up seq anno feature ids: VAR_081731
up seq anno feature ids: VSP_056950

9606:AKAP17A
gene id: 9606:AKAP17A
uniprot id: Q02040
uniprot id: Q05DA9
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 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: 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 comments: A-kinase anchor protein 17A
up seq anno comments: Abolishes binding to PKA-RI; when associated with 438-P-P-439.
up seq anno comments: Abolishes binding to PKA-RI; when associated with 445-P-P-446.
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
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: Phosphoserine
up seq anno comments: RRM
up seq anno feature ids: PRO_0000022692
up seq anno feature ids: VAR_055353
up seq anno feature ids: VSP_004490
up seq anno feature ids: VSP_004491
up seq anno feature ids: VSP_024947
up seq anno feature ids: VSP_024948

9606:TTC9C
gene id: 9606:TTC9C
uniprot id: Q8N5M4
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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: TPR 1
up seq anno comments: TPR 2
up seq anno comments: TPR 3
up seq anno comments: Tetratricopeptide repeat protein 9C
up seq anno feature ids: PRO_0000294465
up seq anno feature ids: VSP_056610
up seq anno feature ids: VSP_056611

9606:RPLP2
gene id: 9606:RPLP2
uniprot id: P05387
up seq anno parent labels: Modification
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: Modified Residue
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 60S acidic ribosomal protein P2
up seq anno comments: N-acetylmethionine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-succinyllysine; alternate
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000157640

9606:CD1C
gene id: 9606:CD1C
uniprot id: P29017
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: Secondary Structure
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: Helical
up seq anno comments: Ig-like
up seq anno comments: Internalization signal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: T-cell surface glycoprotein CD1c
up seq anno feature ids: PRO_0000014580
up seq anno feature ids: VAR_031564
up seq anno feature ids: VAR_031565

9606:WDSUB1
gene id: 9606:WDSUB1
uniprot id: B8ZZF2
uniprot id: D3DPA6
uniprot id: Q8N9V3
up 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 labels: Chain
up seq anno labels: Domain Extent
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: Phosphothreonine
up seq anno comments: SAM
up seq anno comments: U-box
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, SAM and U-box domain-containing protein 1
up seq anno feature ids: PRO_0000278608
up seq anno feature ids: VAR_030791
up seq anno feature ids: VAR_030792
up seq anno feature ids: VAR_030793
up seq anno feature ids: VSP_023337

9606:ERCC3
gene id: 9606:ERCC3
uniprot id: B3KRG2
uniprot id: B3KTH1
uniprot id: G3V1S1
uniprot id: P19447
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: Secondary Structure
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: 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: Basic and acidic residues
up seq anno comments: DEVH box
up seq anno comments: General transcription and DNA repair factor IIH helicase subunit XPB
up seq anno comments: Helicase ATP-binding
up seq anno comments: Helicase C-terminal
up seq anno comments: Impairs protein folding.
up seq anno comments: In TTD2; mild.
up seq anno comments: In XP-B; combined with features of Cockayne syndrome; mild.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: No transcriptional activity of the reconstituted TFIIH complex.
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000101987
up seq anno feature ids: VAR_003632
up seq anno feature ids: VAR_008186
up seq anno feature ids: VAR_014344
up seq anno feature ids: VAR_014766
up seq anno feature ids: VAR_014767
up seq anno feature ids: VAR_017294
up seq anno feature ids: VAR_035942

9606:EML2
gene id: 9606:EML2
uniprot id: O95834
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 labels: Chain
up seq anno labels: Coiled-Coil
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 comments: Echinoderm microtubule-associated protein-like 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: 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 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_0000050962
up seq anno feature ids: VAR_022026
up seq anno feature ids: VAR_024697
up seq anno feature ids: VAR_031723
up seq anno feature ids: VAR_031724
up seq anno feature ids: VAR_035879
up seq anno feature ids: VSP_042541
up seq anno feature ids: VSP_047538

9606:BICRA
gene id: 9606:BICRA
uniprot id: Q9NZM4
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: BRD4-interacting chromatin-remodeling complex-associated protein
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In CSS12.
up seq anno comments: In CSS12; unknown pathological significance.
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 feature ids: PRO_0000083864
up seq anno feature ids: VAR_059665
up seq anno feature ids: VAR_061663
up seq anno feature ids: VAR_085989
up seq anno feature ids: VAR_085990
up seq anno feature ids: VAR_085991
up seq anno feature ids: VAR_085992
up seq anno feature ids: VSP_035776

9606:NRG1
gene id: 9606:NRG1
uniprot id: A0A024QY88
uniprot id: A0A494C0K4
uniprot id: A0A494C0L9
uniprot id: A0A494C0Q4
uniprot id: A0A494C114
uniprot id: A0A494C1B5
uniprot id: A0A494C1F5
uniprot id: A0A494C1F8
uniprot id: A5YAK6
uniprot id: A5YAK8
uniprot id: A6MW54
uniprot id: A6MW55
uniprot id: A6MW56
uniprot id: B0FWZ3
uniprot id: B0FYA7
uniprot id: B0FYA8
uniprot id: B0FYA9
uniprot id: B7Z1D7
uniprot id: B7Z1E3
uniprot id: E3SFM9
uniprot id: F6RJN6
uniprot id: Q02297
uniprot id: Q6PK61
uniprot id: Q7RTW3
uniprot id: Q7RTW5
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: Secondary Structure
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: Non-terminal Residue
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: 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: Defective in integrin-binding and in inducing ERBB3 phosphorylation; when associated with or without E-181 or E-185. No effect on ERBB3-binding, defective in integrin-binding and in ternary complex formation with ERBB3 and integrins, and defective in inducing NRG1-ERBB signaling; when associated with E-181 and E-185.
up seq anno comments: Defective in integrin-binding and in inducing ERBB3 phosphorylation; when associated with or without E-181 or E-187. No effect on ERBB3-binding, defective in integrin-binding and in ternary complex formation with ERBB3 and integrins, and defective in inducing NRG1-ERBB signaling; when associated with E-181 and E-187.
up seq anno comments: Defective in integrin-binding and in inducing ERBB3 phosphorylation; when associated with or without E-185 or E-187. No effect on ERBB3-binding, defective in integrin-binding and in ternary complex formation with ERBB3 and integrins, and defective in inducing NRG1-ERBB signaling; when associated with E-185 and E-187.
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 10.
up seq anno comments: In isoform 11.
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 4.
up seq anno comments: In isoform 6 and isoform 11.
up seq anno comments: In isoform 7 and isoform 12.
up seq anno comments: In isoform 8, isoform 9 and isoform 10.
up seq anno comments: In isoform 9 and isoform 11.
up seq anno comments: In isoform 9.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Neuregulin-1
up seq anno comments: Polar residues
up seq anno comments: Pro-neuregulin-1, membrane-bound isoform
up seq anno feature ids: PRO_0000019462
up seq anno feature ids: PRO_0000019463
up seq anno feature ids: PRO_0000019464
up seq anno feature ids: VAR_009307
up seq anno feature ids: VAR_009308
up seq anno feature ids: VAR_053531
up seq anno feature ids: VAR_082866

9606:OTUD6B
gene id: 9606:OTUD6B
uniprot id: A0A087X0W9
uniprot id: Q8N6M0
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: Site
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: 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: Abolishes the deubiquitinating enzyme activity.
up seq anno comments: Deubiquitinase OTUD6B
up seq anno comments: In IDDFSDA.
up seq anno comments: In IDDFSDA; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylmethionine
up seq anno comments: Nucleophile
up seq anno comments: OTU
up seq anno feature ids: PRO_0000076279
up seq anno feature ids: VAR_034144
up seq anno feature ids: VAR_080403
up seq anno feature ids: VAR_080404
up seq anno feature ids: VSP_055378

9606:TMEM130
gene id: 9606:TMEM130
uniprot id: Q8N3G9
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 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: 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 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: PKD
up seq anno comments: Transmembrane protein 130
up seq anno feature ids: PRO_0000278276
up seq anno feature ids: VAR_030740
up seq anno feature ids: VSP_023257
up seq anno feature ids: VSP_023258

9606:KIF5A
gene id: 9606:KIF5A
uniprot id: Q12840
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: 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: 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: In ALS25.
up seq anno comments: In ALS25; unknown pathological significance.
up seq anno comments: In SPG10.
up seq anno comments: In SPG10; complicated form.
up seq anno comments: In SPG10; decreases microtubule affinity; reduces gliding velocity; reduces microtubule-dependent ATP turnover.
up seq anno comments: In SPG10; does not affect microtubule affinity; does not affect gliding velocity; does not affect microtubule-dependent ATP turnover.
up seq anno comments: In SPG10; pure form.
up seq anno comments: In SPG10; slightly decreases microtubule affinity; reduces gliding velocity; reduces microtubule-dependent ATP turnover.
up seq anno comments: Kinesin heavy chain isoform 5A
up seq anno comments: Kinesin motor
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno comments: Strongly reduces microtubule affinity; slightly reduces gliding velocity.
up seq anno feature ids: PRO_0000125353
up seq anno feature ids: VAR_032842
up seq anno feature ids: VAR_032843
up seq anno feature ids: VAR_032844
up seq anno feature ids: VAR_033108
up seq anno feature ids: VAR_046744
up seq anno feature ids: VAR_058741
up seq anno feature ids: VAR_058742
up seq anno feature ids: VAR_058743
up seq anno feature ids: VAR_058744
up seq anno feature ids: VAR_058745
up seq anno feature ids: VAR_058746
up seq anno feature ids: VAR_058747
up seq anno feature ids: VAR_058748
up seq anno feature ids: VAR_066616
up seq anno feature ids: VAR_080647
up seq anno feature ids: VAR_080648
up seq anno feature ids: VAR_080649
up seq anno feature ids: VAR_080650
up seq anno feature ids: VAR_080651
up seq anno feature ids: VAR_080652

9606:TIGD5
gene id: 9606:TIGD5
uniprot id: Q53EQ6
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: DDE-1 1
up seq anno comments: DDE-1 2
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: In isoform 2.
up seq anno comments: Pro residues
up seq anno comments: Tigger transposable element-derived protein 5
up seq anno feature ids: PRO_0000272618
up seq anno feature ids: VAR_030043
up seq anno feature ids: VSP_042796

9606:ZNF682
gene id: 9606:ZNF682
uniprot id: B3KUX2
uniprot id: B9EG95
uniprot id: O95780
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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
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 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 682
up seq anno feature ids: PRO_0000234001
up seq anno feature ids: VAR_052891
up seq anno feature ids: VAR_052892
up seq anno feature ids: VAR_052893
up seq anno feature ids: VSP_018166
up seq anno feature ids: VSP_044563

9606:BMX
gene id: 9606:BMX
uniprot id: P51813
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: Secondary Structure
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: 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: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Abolishes almost completely the SRC-induced phosphorylation of BMX.
up seq anno comments: Btk-type
up seq anno comments: CAV1-binding
up seq anno comments: Cytoplasmic tyrosine-protein kinase BMX
up seq anno comments: In a lung large cell carcinoma sample; somatic mutation.
up seq anno comments: PH
up seq anno comments: Phosphotyrosine; by SRC and autocatalysis
up seq anno comments: Phosphotyrosine; by autocatalysis
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: SH2
up seq anno feature ids: PRO_0000088063
up seq anno feature ids: VAR_041674
up seq anno feature ids: VAR_041675

9606:SPATA33
gene id: 9606:SPATA33
uniprot id: J3KRC8
uniprot id: Q96N06
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: In isoform 2.
up seq anno comments: PQIIIT
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Spermatogenesis-associated protein 33
up seq anno feature ids: PRO_0000282409
up seq anno feature ids: VAR_050897
up seq anno feature ids: VSP_053288

9606:PCLAF
gene id: 9606:PCLAF
uniprot id: Q15004
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: Secondary Structure
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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: D-box
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:PPP1R1A
gene id: 9606:PPP1R1A
uniprot id: Q13522
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 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: 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: 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:USP5
gene id: 9606:USP5
uniprot id: A0A140VJZ1
uniprot id: P45974
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: Secondary Structure
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: 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 labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: Decreased rate of activity and decreased zinc binding.
up seq anno comments: Decreased rate of activity.
up seq anno comments: In isoform Short.
up seq anno comments: Loss of activity. Loss of ubiquitin binding; when associated with A-221. Lower affinity for triubiquitin and tetraubiquitin, but no effect on affinity for diubiquitin; when associated with E-666. Lower affinity for diubiquitin, triubiquitin and tetraubiquitin; when associated with E-734.
up seq anno comments: Loss of polyubiquitin binding and hydrolysis.
up seq anno comments: Loss of polyubiquitin binding and subsequent activation.
up seq anno comments: Loss of polyubiquitin binding.
up seq anno comments: Loss of polyubiquitin hydrolysis. Loss of ubiquitin binding; when associated with A-335.
up seq anno comments: Lower affinity for diubiquitin, triubiquitin and tetraubiquitin; when associated with A-335. No effect on activity; when associated with E-666.
up seq anno comments: Lower affinity for triubiquitin and tetraubiquitin, but no effect on affinity for diubiquitin; when associated with A-335. No effect on activity; when associated with E-734.
up seq anno comments: N-acetylalanine
up seq anno comments: Nucleophile
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Proton acceptor
up seq anno comments: Removed
up seq anno comments: UBA
up seq anno comments: UBA 1
up seq anno comments: UBA 2
up seq anno comments: UBP-type
up seq anno comments: UBP-type; degenerate
up seq anno comments: USP
up seq anno comments: Ubiquitin carboxyl-terminal hydrolase 5
up seq anno feature ids: PRO_0000080623
up seq anno feature ids: VSP_005259

9606:MAGEE2
gene id: 9606:MAGEE2
uniprot id: Q8TD90
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Variant
up seq anno comments: MAGE 1
up seq anno comments: MAGE 2
up seq anno comments: Melanoma-associated antigen E2
up seq anno feature ids: PRO_0000156731
up seq anno feature ids: VAR_053509

9606:CDKN1C
gene id: 9606:CDKN1C
uniprot id: P49918
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
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 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: Cyclin-dependent kinase inhibitor 1C
up seq anno comments: In BWS.
up seq anno comments: In BWS; unknown pathological significance.
up seq anno comments: In IMAGE.
up seq anno comments: In IMAGE; PCNA binding is disrupted.
up seq anno comments: In a bladder cancer.
up seq anno comments: In a breast cancer.
up seq anno comments: In hepatocellular carcinomas.
up seq anno comments: In isoform Short.
up seq anno comments: In several cancers.
up seq anno comments: Nuclear localization signal
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 feature ids: PRO_0000190087
up seq anno feature ids: VAR_001404
up seq anno feature ids: VAR_001405
up seq anno feature ids: VAR_001406
up seq anno feature ids: VAR_001407
up seq anno feature ids: VAR_068848
up seq anno feature ids: VAR_068849
up seq anno feature ids: VAR_068850
up seq anno feature ids: VAR_068851
up seq anno feature ids: VAR_068852
up seq anno feature ids: VAR_075200
up seq anno feature ids: VAR_075201
up seq anno feature ids: VAR_075202
up seq anno feature ids: VAR_075203
up seq anno feature ids: VAR_075204
up seq anno feature ids: VAR_075205
up seq anno feature ids: VSP_000867

9606:ILKAP
gene id: 9606:ILKAP
uniprot id: Q9H0C8
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: 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: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Integrin-linked kinase-associated serine/threonine phosphatase 2C
up seq anno comments: Loss of >90% of activity.
up seq anno comments: N-acetylmethionine
up seq anno comments: N6-acetyllysine
up seq anno comments: PPM-type phosphatase
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000272271
up seq anno feature ids: VAR_061542

9606:MCM4
gene id: 9606:MCM4
uniprot id: B3KMX0
uniprot id: B4DLA6
uniprot id: P33991
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: 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: Initiator Methionine
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 comments: Arginine finger
up seq anno comments: DNA replication licensing factor MCM4
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: MCM
up seq anno comments: N-acetylserine
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CDC7
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Reduced MCM complex DNA helicase activity. No effect on MCM complex formation. No effect on MCM complex ssDNA binding and ATPase activity.
up seq anno comments: Removed
up seq anno feature ids: PRO_0000194101
up seq anno feature ids: VAR_020500
up seq anno feature ids: VAR_020501

9606:FMNL1
gene id: 9606:FMNL1
uniprot id: O95466
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 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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: DAD
up seq anno comments: FH2
up seq anno comments: Formin-like protein 1
up seq anno comments: GBD/FH3
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-myristoyl glycine
up seq anno comments: Phosphoserine
up seq anno comments: Pro residues
up seq anno comments: Removed
up seq anno feature ids: PRO_0000194890
up seq anno feature ids: VSP_013977
up seq anno feature ids: VSP_043845

9606:SEMG1
gene id: 9606:SEMG1
uniprot id: P04279
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 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: Peptide
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: 2-1
up seq anno comments: 2-2
up seq anno comments: 3-1
up seq anno comments: 3-2
up seq anno comments: Abrogates binding to EPPIN and do not inhibit spem motility.
up seq anno comments: Alpha-inhibin-31
up seq anno comments: Alpha-inhibin-92
up seq anno comments: Basic and acidic residues
up seq anno comments: In isoform 2.
up seq anno comments: Interchain
up seq anno comments: Less common genetic variant.
up seq anno comments: Polar residues
up seq anno comments: Pyrrolidone carboxylic acid
up seq anno comments: Semenogelin-1
up seq anno comments: Seminal basic protein
up seq anno feature ids: PRO_0000032351
up seq anno feature ids: PRO_0000032352
up seq anno feature ids: PRO_0000032353
up seq anno feature ids: PRO_0000032354
up seq anno feature ids: VAR_005610
up seq anno feature ids: VAR_022679
up seq anno feature ids: VAR_053650
up seq anno feature ids: VAR_053651
up seq anno feature ids: VSP_004385

9606:SYNC
gene id: 9606:SYNC
uniprot id: Q9H7C4
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 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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: IF rod
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Syncoilin
up seq anno feature ids: PRO_0000306180
up seq anno feature ids: VSP_039404

9606:MPV17
gene id: 9606:MPV17
uniprot id: A0A0S2Z3Z9
uniprot id: P39210
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 labels: Chain
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
up seq anno comments: Affects ion selectivity of the channel.
up seq anno comments: Does not affect conductance and gating properties of the channel.
up seq anno comments: Does not affect gating properties of the channel.
up seq anno comments: Helical
up seq anno comments: In CMT2EE.
up seq anno comments: In MTDPS6 and CMT2EE; results in incomplete closing of the channel.
up seq anno comments: In MTDPS6.
up seq anno comments: In MTDPS6; does not completely rescue iridophores loss in zebrafish 'tra' mutants; may cause protein instability and decay.
up seq anno comments: In MTDPS6; results in altered ribonucleotide incorporation in mtDNA from patient fibroblasts.
up seq anno comments: In MTDPS6; unknown pathological significance.
up seq anno comments: Protein Mpv17
up seq anno feature ids: PRO_0000218927
up seq anno feature ids: VAR_026217
up seq anno feature ids: VAR_026218
up seq anno feature ids: VAR_026219
up seq anno feature ids: VAR_076199
up seq anno feature ids: VAR_076200
up seq anno feature ids: VAR_076201
up seq anno feature ids: VAR_076202
up seq anno feature ids: VAR_076203
up seq anno feature ids: VAR_076204
up seq anno feature ids: VAR_082226
up seq anno feature ids: VAR_082227
up seq anno feature ids: VAR_082228
up seq anno feature ids: VAR_082229
up seq anno feature ids: VAR_082230
up seq anno feature ids: VAR_082231
up seq anno feature ids: VAR_082232
up seq anno feature ids: VAR_082233
up seq anno feature ids: VAR_082234
up seq anno feature ids: VAR_082235
up seq anno feature ids: VAR_082236
up seq anno feature ids: VAR_082237
up seq anno feature ids: VAR_082238
up seq anno feature ids: VAR_082239
up seq anno feature ids: VAR_082240
up seq anno feature ids: VAR_082241
up seq anno feature ids: VAR_082242
up seq anno feature ids: VAR_082243
up seq anno feature ids: VAR_082244

9606:RETSAT
gene id: 9606:RETSAT
uniprot id: Q6NUM9
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
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: All-trans-retinol 13,14-reductase
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000225665
up seq anno feature ids: VAR_025473
up seq anno feature ids: VAR_059243
up seq anno feature ids: VAR_059244
up seq anno feature ids: VSP_017410
up seq anno feature ids: VSP_017411

9606:NGDN
gene id: 9606:NGDN
uniprot id: Q8NEJ9
up 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 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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic residues
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylalanine
up seq anno comments: Neuroguidin
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000114331
up seq anno feature ids: VAR_051898
up seq anno feature ids: VAR_051899
up seq anno feature ids: VSP_009935
up seq anno feature ids: VSP_009936

9606:C8orf89
gene id: 9606:C8orf89
uniprot id: P0DMQ9
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno comments: Putative uncharacterized protein C8orf89
up seq anno feature ids: PRO_0000431377

9606:ZNF705D
gene id: 9606:ZNF705D
uniprot id: P0CH99
up seq anno parent labels: Experimental Information
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: Sequence Conflict
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; degenerate
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 705D
up seq anno feature ids: PRO_0000332236

9606:SPDYC
gene id: 9606:SPDYC
uniprot id: Q5MJ68
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno comments: Speedy protein C
up seq anno feature ids: PRO_0000234116

9606:DEPDC5
gene id: 9606:DEPDC5
uniprot id: O75140
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 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: 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: DEP
up seq anno comments: GATOR complex protein DEPDC5
up seq anno comments: In FFEVF1; does not inhibit DEPDC5 signaling; does not change kinase activity of mTORC1; does not change association with the GATOR complex; does not change RRAGA/RRAGC and RRAGB/RRAGC heterodimer formation.
up seq anno comments: In FFEVF1; does not inhibit DEPDC5 signaling; does not change kinase activity of mTORC1; does not change association with the GATOR complex; inhibits slightly RRAGA/RRAGC and RRAGB/RRAGC heterodimer formation.
up seq anno comments: In FFEVF1; does not inhibit DEPDC5 signaling; stimulates slightly kinase activity of mTORC1; does not change association with the GATOR complex; does not change RRAGA/RRAGC and RRAGB/RRAGC heterodimer formation.
up seq anno comments: In FFEVF1; inhibits slightly DEPDC5 signaling; does not change kinase activity of mTORC1; does not change association with the GATOR complex; does not change RRAGA/RRAGC and RRAGB/RRAGC heterodimer formation.
up seq anno comments: In FFEVF1; inhibits slightly DEPDC5 signaling; stimulates slightly kinase activity of mTORC1; does not change association with the GATOR complex; does not change RRAGA/RRAGC and RRAGB/RRAGC heterodimer formation.
up seq anno comments: In FFEVF1; unknown pathological significance.
up seq anno comments: In isoform 1 and isoform 9.
up seq anno comments: In isoform 1, isoform 4 and isoform 8.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6 and isoform 8.
up seq anno comments: In isoform 6.
up seq anno comments: No effect on interaction with KLHL22.
up seq anno comments: No effect on ubiquitination. Loss of interaction with KLHL22 and ubiquitination; when associated with R-447, R-1065, R-1088 and R-1574.
up seq anno comments: No effect on ubiquitination. Loss of interaction with KLHL22 and ubiquitination; when associated with R-447, R-710, R-1065 and R-1574.
up seq anno comments: No effect on ubiquitination. Loss of interaction with KLHL22 and ubiquitination; when associated with R-447, R-710, R-1088 and R-1574.
up seq anno comments: No effect on ubiquitination. Loss of interaction with KLHL22 and ubiquitination; when associated with R-710, R-1065, R-1088 and R-1574.
up seq anno comments: No effect on ubiquitination. Loss of ubiquitination; when associated with R-447, R-710, R-1065 and R-1088.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000079865
up seq anno feature ids: VAR_024338
up seq anno feature ids: VAR_053953
up seq anno feature ids: VAR_053954
up seq anno feature ids: VAR_069263
up seq anno feature ids: VAR_069264
up seq anno feature ids: VAR_069265
up seq anno feature ids: VAR_069266
up seq anno feature ids: VAR_072363
up seq anno feature ids: VAR_072364
up seq anno feature ids: VAR_072365
up seq anno feature ids: VAR_072366
up seq anno feature ids: VAR_077128
up seq anno feature ids: VAR_077129
up seq anno feature ids: VAR_077130
up seq anno feature ids: VAR_077131
up seq anno feature ids: VAR_077132
up seq anno feature ids: VAR_077133
up seq anno feature ids: VSP_014933
up seq anno feature ids: VSP_014934
up seq anno feature ids: VSP_014936
up seq anno feature ids: VSP_014937
up seq anno feature ids: VSP_014938
up seq anno feature ids: VSP_014939
up seq anno feature ids: VSP_014940
up seq anno feature ids: VSP_014941

9606:USP29
gene id: 9606:USP29
uniprot id: Q9HBJ7
up 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 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: Sequence Variant
up seq anno comments: Basic and acidic residues
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 29
up seq anno feature ids: PRO_0000080660
up seq anno feature ids: VAR_022055
up seq anno feature ids: VAR_024590

9606:KHK
gene id: 9606:KHK
uniprot id: A0A140VJM6
uniprot id: P50053
up 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 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: 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 comments: PfkB
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:GPR42
gene id: 9606:GPR42
uniprot id: A0A0K0PUY3
uniprot id: O15529
up 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 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: 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: Extracellular
up seq anno comments: G-protein coupled receptor 42
up seq anno comments: G_PROTEIN_RECEP_F1_2
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: Restores responses to propionate.
up seq anno feature ids: PRO_0000069570
up seq anno feature ids: VAR_033468
up seq anno feature ids: VAR_033469
up seq anno feature ids: VAR_033470
up seq anno feature ids: VAR_062860
up seq anno feature ids: VAR_062861
up seq anno feature ids: VAR_062862

9606:PLA2G10
gene id: 9606:PLA2G10
uniprot id: O15496
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: Secondary Structure
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: 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:PIGK
gene id: 9606:PIGK
uniprot id: Q92643
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: Secondary Structure
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: 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 labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: Decrease in activity.
up seq anno comments: GPI-anchor transamidase
up seq anno comments: Helical
up seq anno comments: In NEDHCAS.
up seq anno comments: In NEDHCAS; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: Interchain (with C-182 in PIGT)
up seq anno comments: Loss of activity.
up seq anno comments: Lumenal
up seq anno comments: Partial loss of activity.
up seq anno feature ids: PRO_0000026529
up seq anno feature ids: VAR_051518
up seq anno feature ids: VAR_084273
up seq anno feature ids: VAR_084274
up seq anno feature ids: VAR_084275
up seq anno feature ids: VAR_084276
up seq anno feature ids: VAR_084277
up seq anno feature ids: VAR_084278
up seq anno feature ids: VAR_084279
up seq anno feature ids: VAR_084280
up seq anno feature ids: VAR_084281
up seq anno feature ids: VSP_056457

9606:FGG
gene id: 9606:FGG
uniprot id: A0A140VJJ6
uniprot id: P02679
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: Secondary Structure
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: 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: Basic and acidic residues
up seq anno comments: Fibrinogen C-terminal
up seq anno comments: Fibrinogen gamma chain
up seq anno comments: In Asahi; impaired polymerization.
up seq anno comments: In Baltimore-3; impaired polymerization.
up seq anno comments: In Bern-1; impaired polymerization.
up seq anno comments: In CAFBN; hypofibrinogenemia; heterozygous.
up seq anno comments: In CAFBN; hypofibrinogenemia; heterozygous; no effect on fibrinogen complex assembly; decreased fibrinogen complex secretion.
up seq anno comments: In CAFBN; hypofibrinogenemia; heterozygous; no effect on fibrinogen complex assembly; impaired fibrinogen complex secretion.
up seq anno comments: In CAFBN; hypofibrinogenemia; heterozygous; no effect on fibrinogen complex assembly; no effect on fibrinogen complex secretion.
up seq anno comments: In DYSFIBRIN; fibrinogen Baltimore-1; impaired polymerization.
up seq anno comments: In DYSFIBRIN; fibrinogen Bergamo-2/Essen/Haifa/Osaka-3/Perugia/Saga/Barcelona-3/Barcelona-4.
up seq anno comments: In DYSFIBRIN; fibrinogen Milano-1; impaired polymerization.
up seq anno comments: In DYSFIBRIN; fibrinogen Philadelphia.
up seq anno comments: In Hillsborough; prolonged thrombin clotting time.
up seq anno comments: In Kyoto-1; causes accelerated cleavage by plasmin.
up seq anno comments: In Kyoto-3; impaired polymerization.
up seq anno comments: In Milano-12.
up seq anno comments: In Milano-7; impaired polymerization.
up seq anno comments: In Nagoya-1; impaired polymerization.
up seq anno comments: In Osaka-5.
up seq anno comments: In Paris-1; impaired polymerization.
up seq anno comments: In Tochigi/Osaka-2/Milano-5/Villajoyosa.
up seq anno comments: In Vlissingen; defective calcium binding and impaired polymerization.
up seq anno comments: In isoform Gamma-A.
up seq anno comments: Interchain (with C-110 in beta chain)
up seq anno comments: Interchain (with C-180 in alpha chain)
up seq anno comments: Interchain (with C-227 in beta chain)
up seq anno comments: Interchain (with C-34)
up seq anno comments: Interchain (with C-35)
up seq anno comments: Interchain (with C-64 in alpha chain)
up seq anno comments: Isoglutamyl lysine isopeptide (Gln-Lys) (interchain with K-432)
up seq anno comments: Isoglutamyl lysine isopeptide (Lys-Gln) (interchain with Q-424)
up seq anno comments: N-linked (GlcNAc...) (complex) asparagine
up seq anno comments: N-linked (GlcNAc...) asparagine; in variant Asahi
up seq anno comments: Phosphoserine; by FAM20C
up seq anno comments: Sulfotyrosine
up seq anno feature ids: PRO_0000009099
up seq anno feature ids: PRO_5007491731
up seq anno feature ids: VAR_002409
up seq anno feature ids: VAR_002410
up seq anno feature ids: VAR_002411
up seq anno feature ids: VAR_002412
up seq anno feature ids: VAR_002413
up seq anno feature ids: VAR_002414
up seq anno feature ids: VAR_002415
up seq anno feature ids: VAR_002416
up seq anno feature ids: VAR_002417
up seq anno feature ids: VAR_002418
up seq anno feature ids: VAR_002419
up seq anno feature ids: VAR_002420
up seq anno feature ids: VAR_002421
up seq anno feature ids: VAR_002422
up seq anno feature ids: VAR_014170
up seq anno feature ids: VAR_014171

9606:OR2B2
gene id: 9606:OR2B2
uniprot id: A0A126GWD0
uniprot id: Q9GZK3
up 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 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_RECEP_F1_2
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 allele 6M1-10*02.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 2B2
up seq anno feature ids: PRO_0000150460
up seq anno feature ids: VAR_010943
up seq anno feature ids: VAR_057536
up seq anno feature ids: VAR_062014

9606:FAM171A1
gene id: 9606:FAM171A1
uniprot id: B3KMX9
uniprot id: Q5VUB5
uniprot id: Q9Y438
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 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: 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: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Decreases glycosylation levels. Abolishes glycosylation; when associated with A-159.
up seq anno comments: Decreases glycosylation levels. Abolishes glycosylation; when associated with A-194.
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No effect on glycosylation.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Protein FAM171A1
up seq anno feature ids: PRO_0000274263
up seq anno feature ids: VAR_030220

9606:RPS6KB2
gene id: 9606:RPS6KB2
uniprot id: Q9UBS0
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: 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: Motif
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 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:APMAP
gene id: 9606:APMAP
uniprot id: Q9HDC9
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation Site
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: Adipocyte plasma membrane-associated protein
up seq anno comments: Basic and acidic residues
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-acetylserine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000205945
up seq anno feature ids: VAR_014128
up seq anno feature ids: VAR_055039
up seq anno feature ids: VAR_055040
up seq anno feature ids: VSP_036992
up seq anno feature ids: VSP_036993

9606:C16orf74
gene id: 9606:C16orf74
uniprot id: Q96GX8
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 labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Splice Variant
up seq anno comments: Abolished phosphorylation and interaction with PPP3CA.
up seq anno comments: Abolishes interaction with PPP3CA.
up seq anno comments: In isoform 2.
up seq anno comments: No effect on phosphorylation.
up seq anno comments: Phosphothreonine
up seq anno comments: Uncharacterized protein C16orf74
up seq anno feature ids: PRO_0000264621
up seq anno feature ids: VSP_061477

9606:TPD52L1
gene id: 9606:TPD52L1
uniprot id: E9PNK6
uniprot id: J3KNE7
uniprot id: Q15730
uniprot id: Q16890
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 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: 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 and isoform 5.
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: Tumor protein D53
up seq anno feature ids: PRO_0000185741
up seq anno feature ids: VAR_034568
up seq anno feature ids: VSP_036751
up seq anno feature ids: VSP_036752
up seq anno feature ids: VSP_036753
up seq anno feature ids: VSP_036754
up seq anno feature ids: VSP_036755

9606:RAB8A
gene id: 9606:RAB8A
uniprot id: P61006
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: Secondary Structure
up seq anno parent labels: Site
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: 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 2.
up seq anno comments: Loss of interaction with MICALL1.
up seq anno comments: Loss of phosphorylation. No effect on the binding of GDP or GTP. Localizes primarily to the Golgi complex but does not affect membrane localization.
up seq anno comments: Phosphomimetic mutant. No effect on the binding of GDP or GTP. Loss of GDI1, GDI2, CHM, CHML, RABGGTA, RABGGTB, RAB3IP, TBC1D15, and INPP5B binding. Increases localization to the cell membrane.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine; by LRRK2
up seq anno comments: Probable constitutively active mutant locked in the active GTP-bound form. Stimulates interaction with MICALL1.
up seq anno comments: Ras-related protein Rab-8A
up seq anno comments: Removed in mature form
up seq anno comments: S-geranylgeranyl cysteine
up seq anno feature ids: PRO_0000121130
up seq anno feature ids: PRO_0000370793
up seq anno feature ids: VSP_056399

9606:COX2
gene id: 9606:COX2
uniprot id: P00403
uniprot id: U5Z487
up 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 labels: Binding Site
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: COX2_CUA
up seq anno comments: COX2_TM
up seq anno comments: Cytochrome c oxidase subunit 2
up seq anno comments: Helical
up seq anno comments: Helical; Name=I
up seq anno comments: Helical; Name=II
up seq anno comments: In MT-C4D; affect the stability of the COX complex.
up seq anno comments: In colorectal cancer.
up seq anno comments: Mitochondrial intermembrane
up seq anno comments: Mitochondrial matrix
up seq anno feature ids: PRO_0000183610
up seq anno feature ids: VAR_008390
up seq anno feature ids: VAR_008571
up seq anno feature ids: VAR_008572
up seq anno feature ids: VAR_008863
up seq anno feature ids: VAR_011344
up seq anno feature ids: VAR_011345
up seq anno feature ids: VAR_035085

9606:DHX15
gene id: 9606:DHX15
uniprot id: O43143
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: 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: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: ATP-dependent RNA helicase DHX15
up seq anno comments: Abolished ATPase activity without affecting ability to activate the MAVS-dependent signaling to produce interferon-beta.
up seq anno comments: Abolished ATPase activity.
up seq anno comments: Abolished interaction with NKRF.
up seq anno comments: Basic and acidic residues
up seq anno comments: DEAH box
up seq anno comments: Decreased, but not abolished interaction, with NKRF.
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: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000055139

9606:DET1
gene id: 9606:DET1
uniprot id: Q7L5Y6
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Splice Variant
up seq anno comments: DET1 homolog
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000129026
up seq anno feature ids: VSP_043012

9606:XRN2
gene id: 9606:XRN2
uniprot id: B4DZC3
uniprot id: Q9H0D6
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: 5'-3' exoribonuclease 2
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: CCHC-type
up seq anno comments: In isoform 2.
up seq anno comments: N6-acetyllysine
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: Polar residues
up seq anno comments: XRN_M
up seq anno comments: XRN_N
up seq anno feature ids: PRO_0000071396
up seq anno feature ids: VAR_027516
up seq anno feature ids: VAR_053002
up seq anno feature ids: VSP_020596

9606:RNF13
gene id: 9606:RNF13
uniprot id: O43567
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: Secondary Structure
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: 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 labels: Zinc Finger
up seq anno comments: Abolishes ER stress-induced JNK activation and apoptosis.
up seq anno comments: Abolishes ER stress-induced JNK activation and apoptosis. Abolishes interaction with ERN1. Does not affect localization to endoplasmic reticulum.
up seq anno comments: Abolishes ER stress-induced JNK activation and apoptosis. Disrupts localization to endoplasmic reticulum.
up seq anno comments: Acidic residues
up seq anno comments: Complete loss of E3 ligase activity; when associated with A-258.
up seq anno comments: Complete loss of E3 ligase activity; when associated with A-260.
up seq anno comments: Cytoplasmic
up seq anno comments: Drastically reduces E3 ligase activity.
up seq anno comments: E3 ubiquitin-protein ligase RNF13
up seq anno comments: Found in a tumor sample; unknown pathological significance; abolished ability to regulate protein trafficking and localization.
up seq anno comments: Found in a tumor sample; unknown pathological significance; abolished localization to endosomes.
up seq anno comments: Helical
up seq anno comments: In DEE73.
up seq anno comments: In DEE73; gain-of-function variant; increased ER stress-induced apoptosis.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of glycosylation.
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No effect on ER stress-induced JNK activation and apoptosis.
up seq anno comments: No effect on ER stress-induced JNK activation and apoptosis. No effect on interaction with ERN1.
up seq anno comments: No effect on glycosylation.
up seq anno comments: PA
up seq anno comments: Polar residues
up seq anno comments: RING-type; atypical
up seq anno feature ids: PRO_0000056054
up seq anno feature ids: VAR_082117
up seq anno feature ids: VAR_082118
up seq anno feature ids: VAR_086368
up seq anno feature ids: VAR_086369
up seq anno feature ids: VAR_086370
up seq anno feature ids: VSP_055430
up seq anno feature ids: VSP_055431

9606:APOL4
gene id: 9606:APOL4
uniprot id: Q9BPW4
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Apolipoprotein L4
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno feature ids: PRO_0000002041
up seq anno feature ids: VAR_053008
up seq anno feature ids: VAR_053009
up seq anno feature ids: VAR_053010
up seq anno feature ids: VAR_059966
up seq anno feature ids: VAR_059967
up seq anno feature ids: VAR_059968
up seq anno feature ids: VSP_000295
up seq anno feature ids: VSP_024380

9606:CIBAR1
gene id: 9606:CIBAR1
uniprot id: A1XBS5
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 labels: Chain
up seq anno labels: Coiled-Coil
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: Transit Peptide
up seq anno comments: Abolishes ability to induce membrane remodeling in the presence of CBY1; when associated with E-107; E-110; E-114; E-132 and E-134.
up seq anno comments: Abolishes ability to induce membrane remodeling in the presence of CBY1; when associated with E-107; E-110; E-114; E-132 and E-136.
up seq anno comments: Abolishes ability to induce membrane remodeling in the presence of CBY1; when associated with E-107; E-110; E-114; E-134 and E-136.
up seq anno comments: Abolishes ability to induce membrane remodeling in the presence of CBY1; when associated with E-107; E-110; E-132; E-134 and E-136.
up seq anno comments: Abolishes ability to induce membrane remodeling in the presence of CBY1; when associated with E-107;E-114; E-132; E-134 and E-136.
up seq anno comments: Abolishes ability to induce membrane remodeling in the presence of CBY1; when associated with E-110; E-114; E-132; E-134 and E-136.
up seq anno comments: CBY1-interacting BAR domain-containing protein 1
up seq anno comments: In PAPA9; does not form homodimers; does not interact with CBY1; does not localize to cilium basal body.
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: Reduced membrane-binding and significant reduction in membrane remodeling activity; when associated with A-107 and A-109.
up seq anno comments: Reduced membrane-binding and significant reduction in membrane remodeling activity; when associated with A-107 and A-110.
up seq anno comments: Reduced membrane-binding and significant reduction in membrane remodeling activity; when associated with A-109 and A-110.
up seq anno comments: Reduced membrane-binding and significant reduction in membrane remodeling activity; when associated with A-132 and A-134.
up seq anno comments: Reduced membrane-binding and significant reduction in membrane remodeling activity; when associated with A-132 and A-136.
up seq anno comments: Reduced membrane-binding and significant reduction in membrane remodeling activity; when associated with A-134 and A-136.
up seq anno comments: Reduced membrane-binding and significant reduction in membrane remodeling activity; when associated with A-264 and A-266.
up seq anno comments: Reduced membrane-binding and significant reduction in membrane remodeling activity; when associated with A-264 and A-267.
up seq anno comments: Reduced membrane-binding and significant reduction in membrane remodeling activity; when associated with A-266 and A-267.
up seq anno feature ids: PRO_0000287080
up seq anno feature ids: VAR_062190
up seq anno feature ids: VAR_081578
up seq anno feature ids: VSP_025292
up seq anno feature ids: VSP_025293
up seq anno feature ids: VSP_025294
up seq anno feature ids: VSP_025295
up seq anno feature ids: VSP_025296

9606:CITED4
gene id: 9606:CITED4
uniprot id: Q96RK1
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 comments: Cbp/p300-interacting transactivator 4
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000233309

9606:PDE6C
gene id: 9606:PDE6C
uniprot id: P51160
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: Secondary Structure
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: 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 comments: Basic and acidic residues
up seq anno comments: Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'
up seq anno comments: Cysteine methyl ester
up seq anno comments: Found in a renal cell carcinoma sample; somatic mutation.
up seq anno comments: GAF 1
up seq anno comments: GAF 2
up seq anno comments: In ACHM5.
up seq anno comments: In ACHM5; decreases cGMP phosphodiesterase activity.
up seq anno comments: In ACHM5; severely decreases cGMP phosphodiesterase activity.
up seq anno comments: In COD4 and ACHM5; severely decreases cGMP phosphodiesterase activity.
up seq anno comments: No effect on cGMP phosphodiesterase activity.
up seq anno comments: PDEase
up seq anno comments: Proton donor
up seq anno comments: Removed in mature form
up seq anno comments: S-geranylgeranyl cysteine
up seq anno feature ids: PRO_0000198831
up seq anno feature ids: PRO_0000370788
up seq anno feature ids: VAR_025470
up seq anno feature ids: VAR_025471
up seq anno feature ids: VAR_025472
up seq anno feature ids: VAR_050475
up seq anno feature ids: VAR_050476
up seq anno feature ids: VAR_062408
up seq anno feature ids: VAR_062409
up seq anno feature ids: VAR_062410
up seq anno feature ids: VAR_064744
up seq anno feature ids: VAR_079307
up seq anno feature ids: VAR_079308
up seq anno feature ids: VAR_079309
up seq anno feature ids: VAR_079310
up seq anno feature ids: VAR_079311
up seq anno feature ids: VAR_079312

9606:L3MBTL1
gene id: 9606:L3MBTL1
uniprot id: Q9Y468
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: Secondary Structure
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: 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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno labels: Zinc Finger
up seq anno comments: Abolishes binding to monomethylated and dimethylated peptides.
up seq anno comments: Abolishes binding to monomethylated and dimethylated peptides. Abolishes binding to p53/TP53 monomethylated at 'Lys-382'.
up seq anno comments: Abolishes binding to p53/TP53 monomethylated at 'Lys-382'.
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: CCHHC-type
up seq anno comments: Does not affect binding to monomethylated and dimethylated peptides.
up seq anno comments: In isoform 1, isoform 2 and isoform 4.
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: Lethal(3)malignant brain tumor-like protein 1
up seq anno comments: MBT 1
up seq anno comments: MBT 2
up seq anno comments: MBT 3
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: SAM
up seq anno comments: Strongly impairs binding to monomethylated and dimethylated peptides.
up seq anno comments: Strongly impairs binding to monomethylated and dimethylated peptides. Abolishes binding to p53/TP53 monomethylated at 'Lys-382'.
up seq anno feature ids: PRO_0000084452
up seq anno feature ids: VAR_051097
up seq anno feature ids: VAR_051098
up seq anno feature ids: VAR_082883
up seq anno feature ids: VSP_003901
up seq anno feature ids: VSP_059458
up seq anno feature ids: VSP_059459
up seq anno feature ids: VSP_059460

9606:MRPS10
gene id: 9606:MRPS10
uniprot id: A0A024RD03
uniprot id: B4DP77
uniprot id: P82664
up seq anno parent labels: Experimental Information
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: Sequence Conflict
up seq anno comments: 28S ribosomal protein S10, mitochondrial
up seq anno comments: Ribosomal_S10
up seq anno feature ids: PRO_0000146675

9606:DTX3L
gene id: 9606:DTX3L
uniprot id: Q8TDB6
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: Secondary Structure
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: 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: 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:SRGAP2C
gene id: 9606:SRGAP2C
uniprot id: P0DJJ0
up seq anno parent labels: Experimental Information
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: Domain Extent
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno comments: Basic and acidic residues
up seq anno comments: Does not improve solubility; when associated with R-108, R-205, R-235 and R-250.
up seq anno comments: Does not improve solubility; when associated with R-73, R-108, R-205 and R-235.
up seq anno comments: Does not improve solubility; when associated with R-73, R-108, R-205 and R-250.
up seq anno comments: Does not improve solubility; when associated with R-73, R-108, R-235 and R-250.
up seq anno comments: Does not improve solubility; when associated with R-73, R-205, R-235 and R-250.
up seq anno comments: F-BAR
up seq anno comments: SLIT-ROBO Rho GTPase-activating protein 2C
up seq anno feature ids: PRO_0000418193

9606:ASB18
gene id: 9606:ASB18
uniprot id: Q6ZVZ8
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
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 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 18
up seq anno comments: In isoform 2.
up seq anno comments: SOCS box
up seq anno feature ids: PRO_0000311875
up seq anno feature ids: VAR_037331
up seq anno feature ids: VAR_048289
up seq anno feature ids: VAR_048290
up seq anno feature ids: VAR_059128
up seq anno feature ids: VSP_029621

9606:SPOUT1
gene id: 9606:SPOUT1
uniprot id: Q5T280
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: Secondary Structure
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 comments: Putative methyltransferase C9orf114
up seq anno feature ids: PRO_0000238468
up seq anno feature ids: VAR_026552
up seq anno feature ids: VAR_026553
up seq anno feature ids: VAR_050844

9606:FOXL1
gene id: 9606:FOXL1
uniprot id: Q12952
uniprot id: Q498Y4
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: Domain Extent
up seq anno comments: Basic and acidic residues
up seq anno comments: Fork-head
up seq anno comments: Forkhead box protein L1
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000091859

9606:ST6GALNAC5
gene id: 9606:ST6GALNAC5
uniprot id: B4DV27
uniprot id: Q9BVH7
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: Disulfide Bond
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: Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5
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: Polar residues
up seq anno feature ids: PRO_0000149280
up seq anno feature ids: PRO_5002803328

9606:CCDC43
gene id: 9606:CCDC43
uniprot id: Q96MW1
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 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: 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 43
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)
up seq anno comments: In isoform 2.
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000234500
up seq anno feature ids: VSP_040750

9606:MEX3A
gene id: 9606:MEX3A
uniprot id: A1L020
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: Modified Residue
up seq anno labels: Zinc Finger
up seq anno comments: KH 1
up seq anno comments: KH 2
up seq anno comments: Phosphoserine
up seq anno comments: Pro residues
up seq anno comments: RING-type
up seq anno comments: RNA-binding protein MEX3A
up seq anno feature ids: PRO_0000281013

9606:STXBP2
gene id: 9606:STXBP2
uniprot id: Q15833
uniprot id: Q53GF4
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: Secondary Structure
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: Turn
up seq anno comments: In FHL5.
up seq anno comments: In FHL5; leads to a complete loss of the ability to interact with STX11.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Syntaxin-binding protein 2
up seq anno feature ids: PRO_0000206281
up seq anno feature ids: VAR_014934
up seq anno feature ids: VAR_063814
up seq anno feature ids: VAR_063815
up seq anno feature ids: VAR_063816
up seq anno feature ids: VAR_063817
up seq anno feature ids: VAR_063818
up seq anno feature ids: VAR_063819
up seq anno feature ids: VSP_040121
up seq anno feature ids: VSP_055157

9606:SYNE2
gene id: 9606:SYNE2
uniprot id: Q6MZP0
uniprot id: Q8WXH0
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: Secondary Structure
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: Non-terminal 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: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
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: Cytoplasmic
up seq anno comments: Disrupts interaction with SUN2.
up seq anno comments: Helical; Anchor for type IV membrane protein
up seq anno comments: In EDMD5.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 10.
up seq anno comments: In isoform 11.
up seq anno comments: In isoform 13.
up seq anno comments: In isoform 2, isoform 5 and isoform 12.
up seq anno comments: In isoform 2, isoform 6 and isoform 10.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: In isoform 5 and isoform 12.
up seq anno comments: In isoform 5 and isoform 6.
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: Interchain (with C-563 in SUN2)
up seq anno comments: KASH
up seq anno comments: N6-acetyllysine
up seq anno comments: Nesprin-2
up seq anno comments: Perinuclear space
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
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 15
up seq anno comments: Spectrin 16
up seq anno comments: Spectrin 17
up seq anno comments: Spectrin 18
up seq anno comments: Spectrin 19
up seq anno comments: Spectrin 2
up seq anno comments: Spectrin 20
up seq anno comments: Spectrin 21
up seq anno comments: Spectrin 22
up seq anno comments: Spectrin 23
up seq anno comments: Spectrin 24
up seq anno comments: Spectrin 25
up seq anno comments: Spectrin 26
up seq anno comments: Spectrin 27
up seq anno comments: Spectrin 28
up seq anno comments: Spectrin 29
up seq anno comments: Spectrin 3
up seq anno comments: Spectrin 30
up seq anno comments: Spectrin 31

9606:OR2L13
gene id: 9606:OR2L13
uniprot id: A0A126GW96
uniprot id: Q8N349
up 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 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_RECEP_F1_2
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 2L13
up seq anno feature ids: PRO_0000150490
up seq anno feature ids: VAR_053148
up seq anno feature ids: VAR_062025

9606:ENSA
gene id: 9606:ENSA
uniprot id: O43768
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 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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Alpha-endosulfine
up seq anno comments: Basic and acidic residues
up seq anno comments: In isoform 2, isoform 4, isoform 6 and isoform 9.
up seq anno comments: In isoform 3, isoform 7 and isoform 9.
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 8.
up seq anno comments: Mimicks a phosphorylated state and impairs interaction with SNCA.
up seq anno comments: N-acetylserine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by GWL
up seq anno comments: Phosphoserine; by PKA
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno feature ids: PRO_0000146758
up seq anno feature ids: VSP_001443
up seq anno feature ids: VSP_037063
up seq anno feature ids: VSP_037064
up seq anno feature ids: VSP_037065
up seq anno feature ids: VSP_037066
up seq anno feature ids: VSP_037067

9606:BRINP1
gene id: 9606:BRINP1
uniprot id: O60477
up 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 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: Splice Variant
up seq anno comments: BMP/retinoic acid-inducible neural-specific protein 1
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: MACPF
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000045766
up seq anno feature ids: VAR_024930
up seq anno feature ids: VAR_029989
up seq anno feature ids: VAR_029990
up seq anno feature ids: VAR_036336
up seq anno feature ids: VSP_017021
up seq anno feature ids: VSP_017022
up seq anno feature ids: VSP_017023

9606:SOCS6
gene id: 9606:SOCS6
uniprot id: A0A024R379
uniprot id: O14544
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: Secondary Structure
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: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Polar residues
up seq anno comments: SH2
up seq anno comments: SOCS box
up seq anno comments: Suppressor of cytokine signaling 6
up seq anno feature ids: PRO_0000181251

9606:HDAC8
gene id: 9606:HDAC8
uniprot id: Q9BY41
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: Secondary Structure
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: 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: Almost complete loss of catalytical activity.
up seq anno comments: Complete loss of catalytical activity.
up seq anno comments: Complete loss of catalytical activity. Complete loss of catalytical activity; when associated with F-306.
up seq anno comments: Decreases the deacetylase activity.
up seq anno comments: Enhances the deacetylase activity.
up seq anno comments: Histone deacetylase 8
up seq anno comments: In CDLS5.
up seq anno comments: In isoform 4 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: In isoform 8.
up seq anno comments: Loss of catalytic activity.
up seq anno comments: Loss of catalytic activity. Complete loss of catalytic activity; when associated with A-101.
up seq anno comments: Partial loss of catalytical activity.
up seq anno comments: Phosphoserine
up seq anno comments: Proton acceptor
up seq anno comments: Strongly reduces histone deacetylase activity.
up seq anno feature ids: PRO_0000114708
up seq anno feature ids: VAR_069140
up seq anno feature ids: VAR_069141
up seq anno feature ids: VAR_069142
up seq anno feature ids: VAR_069143
up seq anno feature ids: VSP_007177
up seq anno feature ids: VSP_043426
up seq anno feature ids: VSP_043427
up seq anno feature ids: VSP_046832
up seq anno feature ids: VSP_046833
up seq anno feature ids: VSP_046834
up seq anno feature ids: VSP_046835
up seq anno feature ids: VSP_046836
up seq anno feature ids: VSP_047502

9606:USP13
gene id: 9606:USP13
uniprot id: A0A0A6YZ17
uniprot id: Q92995
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: Secondary Structure
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: 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 labels: Zinc Finger
up seq anno comments: Abolishes deubiquitinating activity. Does not abolish ability to stabilize SIAH2. Does not abolish ability to stabilize SIAH2; when associated with A-814 and A-823.
up seq anno comments: Does not abolish ability to stabilize SIAH2.
up seq anno comments: Does not abolish ability to stabilize SIAH2; when associated with A-345 and A-814.
up seq anno comments: Does not abolish ability to stabilize SIAH2; when associated with A-345 and A-823.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Impairs ability to stabilize SIAH2.
up seq anno comments: Impairs ability to stabilize SIAH2. Abolishes ability to stabilize SIAH2; when associated with E-664.
up seq anno comments: Impairs ability to stabilize SIAH2. Abolishes ability to stabilize SIAH2; when associated with E-739.
up seq anno comments: In isoform 2.
up seq anno comments: Nucleophile
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Proton acceptor
up seq anno comments: UBA
up seq anno comments: UBA 1
up seq anno comments: UBA 2
up seq anno comments: UBP-type
up seq anno comments: UBP-type; degenerate
up seq anno comments: USP
up seq anno comments: Ubiquitin carboxyl-terminal hydrolase 13
up seq anno feature ids: PRO_0000080635
up seq anno feature ids: VSP_043954

9606:COX6C
gene id: 9606:COX6C
uniprot id: A0A024R9B7
uniprot id: P09669
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: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: COX6C
up seq anno comments: Cytochrome c oxidase subunit 6C
up seq anno comments: Helical
up seq anno comments: Mitochondrial intermembrane
up seq anno comments: Mitochondrial matrix
up seq anno feature ids: PRO_0000006131

9606:PCDHGA12
gene id: 9606:PCDHGA12
uniprot id: O60330
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 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: 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 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: Polar residues
up seq anno comments: Protocadherin gamma-A12
up seq anno feature ids: PRO_0000003970
up seq anno feature ids: VSP_008682
up seq anno feature ids: VSP_008683

9606:COA4
gene id: 9606:COA4
uniprot id: Q9NYJ1
up 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 labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Motif
up seq anno labels: Splice Variant
up seq anno comments: CHCH
up seq anno comments: Cx9C motif 1
up seq anno comments: Cx9C motif 2
up seq anno comments: Cytochrome c oxidase assembly factor 4 homolog, mitochondrial
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000314908
up seq anno feature ids: VSP_030428

9606:SIGLEC15
gene id: 9606:SIGLEC15
uniprot id: Q6ZMC9
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: 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: 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: Abrogates glycan-binding.
up seq anno comments: Abrogates interaction with HCST and TYROBP.
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: Ig-like V-type
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: Sialic acid-binding Ig-like lectin 15
up seq anno feature ids: PRO_0000294369
up seq anno feature ids: VAR_033174
up seq anno feature ids: VSP_056817
up seq anno feature ids: VSP_056818

9606:CCDC15
gene id: 9606:CCDC15
uniprot id: Q0P6D6
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 labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Coiled-coil domain-containing protein 15
up seq anno feature ids: PRO_0000307715
up seq anno feature ids: VAR_050748
up seq anno feature ids: VAR_050749
up seq anno feature ids: VAR_069401

9606:CHCHD3
gene id: 9606:CHCHD3
uniprot id: A4D1N4
uniprot id: B7Z1X9
uniprot id: C9JRZ6
uniprot id: Q9NX63
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: Disulfide Bond
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: Motif
up seq anno comments: CHCH
up seq anno comments: Cx9C motif 1
up seq anno comments: Cx9C motif 2
up seq anno comments: MICOS complex subunit MIC19
up seq anno comments: N-myristoyl glycine
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: Removed
up seq anno feature ids: PRO_0000129163

9606:KIN
gene id: 9606:KIN
uniprot id: O60870
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: 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: 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: Almost complete loss of in vitro methylation by METTL22.
up seq anno comments: Basic and acidic residues
up seq anno comments: C2H2-type
up seq anno comments: DNA/RNA-binding protein KIN17
up seq anno comments: In isoform 2.
up seq anno comments: N6,N6,N6-trimethyllysine; by METTL22; in vitro
up seq anno comments: N6-methyllysine
up seq anno comments: Polar residues
up seq anno comments: Significant reduction of RNA-binding activity.
up seq anno feature ids: PRO_0000289134
up seq anno feature ids: VSP_056074

9606:RGL3
gene id: 9606:RGL3
uniprot id: A0A0A0MRX4
uniprot id: Q3MIN7
up 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 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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: N-terminal Ras-GEF
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Ral guanine nucleotide dissociation stimulator-like 3
up seq anno comments: Ras-GEF
up seq anno comments: Ras-associating
up seq anno feature ids: PRO_0000306799
up seq anno feature ids: VAR_035298
up seq anno feature ids: VAR_035299
up seq anno feature ids: VAR_035300
up seq anno feature ids: VSP_045369

9606:HDAC11
gene id: 9606:HDAC11
uniprot id: B5MCQ6
uniprot id: Q96DB2
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: Site
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 comments: Hist_deacetyl
up seq anno comments: Histone deacetylase 11
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000114715
up seq anno feature ids: VSP_043082
up seq anno feature ids: VSP_043083

9606:APELA
gene id: 9606:APELA
uniprot id: P0DMC3
uniprot id: X5D2P3
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: Glycosylation Site
up seq anno labels: Signal Peptide
up seq anno labels: Transmembrane
up seq anno comments: Apelin receptor early endogenous ligand
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000425557

9606:TOMM20L
gene id: 9606:TOMM20L
uniprot id: Q6UXN7
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
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: Helical
up seq anno comments: Mitochondrial intermembrane
up seq anno comments: TOMM20-like protein 1
up seq anno feature ids: PRO_0000317747

9606:TGFA
gene id: 9606:TGFA
uniprot id: E7EPT6
uniprot id: F8VNR3
uniprot id: P01135
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: Secondary Structure
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:SLC25A33
gene id: 9606:SLC25A33
uniprot id: Q9BSK2
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
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 1
up seq anno comments: Solcar 2
up seq anno comments: Solcar 3
up seq anno comments: Solute carrier family 25 member 33
up seq anno feature ids: PRO_0000291785
up seq anno feature ids: VAR_032861

9606:DUOX2
gene id: 9606:DUOX2
uniprot id: Q9NRD8
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: 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: 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: Dual oxidase 2
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: Extracellular
up seq anno comments: FAD-binding FR-type
up seq anno comments: Ferric oxidoreductase
up seq anno comments: Found in a patient with very early onset inflammatory bowel disease; unknown pathological significance; no effect on subcellular location; significantly reduced ROS generation, which may decrease resistance to infection by enteric pathogens, such as Escherichia coli.
up seq anno comments: Helical
up seq anno comments: In TDH6.
up seq anno comments: In TDH6; the enzyme is non-functional; expressed at the cell surface of cells albeit at low level.
up seq anno comments: Interchain (with C-167 in DUOXA2)
up seq anno comments: Interchain (with C-233 in DUOXA2)
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000223349
up seq anno feature ids: VAR_025323
up seq anno feature ids: VAR_025324
up seq anno feature ids: VAR_025325
up seq anno feature ids: VAR_047075
up seq anno feature ids: VAR_061177
up seq anno feature ids: VAR_064619
up seq anno feature ids: VAR_075549
up seq anno feature ids: VAR_075550

9606:ATP1B4
gene id: 9606:ATP1B4
uniprot id: Q9UN42
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased 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: Acidic residues
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In isoform B.
up seq anno comments: Nuclear
up seq anno comments: Perinuclear space
up seq anno comments: Protein ATP1B4
up seq anno feature ids: PRO_0000219122
up seq anno feature ids: VAR_055535
up seq anno feature ids: VSP_000351

9606:MYH2
gene id: 9606:MYH2
uniprot id: Q9UKX2
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: 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: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: IQ
up seq anno comments: In MYPOP.
up seq anno comments: In isoform 2.
up seq anno comments: In one patient with familial myopathy; unknown pathological significance.
up seq anno comments: Myosin N-terminal SH3-like
up seq anno comments: Myosin motor
up seq anno comments: Myosin-2
up seq anno comments: N6,N6,N6-trimethyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Pros-methylhistidine
up seq anno feature ids: PRO_0000123393
up seq anno feature ids: VAR_032630
up seq anno feature ids: VAR_032631
up seq anno feature ids: VAR_032632
up seq anno feature ids: VAR_032633
up seq anno feature ids: VSP_056291

9606:UTP14C
gene id: 9606:UTP14C
uniprot id: A0A024RDV0
uniprot id: Q5TAP6
up 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 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: Sequence Variant
up seq anno comments: Basic and acidic residues
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:SEC62
gene id: 9606:SEC62
uniprot id: D3DNQ1
uniprot id: Q99442
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Helix
up seq anno labels: Modified Residue
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: Helical
up seq anno comments: Lumenal
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Translocation protein SEC62
up seq anno feature ids: PRO_0000206616

9606:ZNF141
gene id: 9606:ZNF141
uniprot id: D6RIY0
uniprot id: Q15928
uniprot id: Q4W5N2
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 labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Non-terminal Residue
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 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: In PAPA6.
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 141
up seq anno feature ids: PRO_0000047424
up seq anno feature ids: VAR_012026
up seq anno feature ids: VAR_012027
up seq anno feature ids: VAR_019973
up seq anno feature ids: VAR_069637

9606:WDR62
gene id: 9606:WDR62
uniprot id: A0A7P0T9D9
uniprot id: A0A7P0TAK3
uniprot id: A0A7P0Z436
uniprot id: O43379
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 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: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: ANAPC4_WD40
up seq anno comments: Basic and acidic residues
up seq anno comments: In MCPH2.
up seq anno comments: In MCPH2; the mutant protein does not localize to the spindle pole during mitosis.
up seq anno comments: In MCPH2; uncertain 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: 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 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 14
up seq anno comments: WD 15
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 62
up seq anno feature ids: PRO_0000281879
up seq anno feature ids: VAR_031299
up seq anno feature ids: VAR_031300
up seq anno feature ids: VAR_031301
up seq anno feature ids: VAR_055014
up seq anno feature ids: VAR_055015
up seq anno feature ids: VAR_057629
up seq anno feature ids: VAR_063702
up seq anno feature ids: VAR_063703
up seq anno feature ids: VAR_065843
up seq anno feature ids: VAR_065844
up seq anno feature ids: VAR_065845
up seq anno feature ids: VAR_082935
up seq anno feature ids: VSP_024077
up seq anno feature ids: VSP_024078
up seq anno feature ids: VSP_024079
up seq anno feature ids: VSP_024080
up seq anno feature ids: VSP_039906

9606:KRTAP19-1
gene id: 9606:KRTAP19-1
uniprot id: Q8IUB9
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno comments: Keratin-associated protein 19-1
up seq anno feature ids: PRO_0000185221

9606:ANOS1
gene id: 9606:ANOS1
uniprot id: P23352
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 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: Anosmin-1
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: In HH1.
up seq anno comments: In HH1; phenotype consistent with Kallmann syndrome.
up seq anno comments: In HH1; phenotype consistent with Kallmann syndrome; loss of effect on the migratory activity of GnRH neurons; Reduced FGFR1-binding.
up seq anno comments: In HH1; phenotype consistent with Kallmann syndrome; loss of effect on the migratory activity of GnRH neurons; complete loss of FGFR1-binding.
up seq anno comments: In HH1; phenotype consistent with Kallmann syndrome; loss of effect on the migratory activity of GnRH neurons; reduced FGFR1-binding.
up seq anno comments: In HH1; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism; the patient also carries a mutation in FGFR1.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Probable disease-associated variant found in a patient with Kallmann syndrome; the patient also carries mutation Ala-688 in SEMA3A.
up seq anno comments: WAP
up seq anno feature ids: PRO_0000041395
up seq anno feature ids: VAR_007720
up seq anno feature ids: VAR_007721
up seq anno feature ids: VAR_012742
up seq anno feature ids: VAR_031011
up seq anno feature ids: VAR_031012
up seq anno feature ids: VAR_031013
up seq anno feature ids: VAR_031014
up seq anno feature ids: VAR_031015
up seq anno feature ids: VAR_031016
up seq anno feature ids: VAR_031017
up seq anno feature ids: VAR_031018
up seq anno feature ids: VAR_031019
up seq anno feature ids: VAR_031020
up seq anno feature ids: VAR_065362
up seq anno feature ids: VAR_065363
up seq anno feature ids: VAR_065364
up seq anno feature ids: VAR_069207
up seq anno feature ids: VAR_069968
up seq anno feature ids: VAR_072992

9606:KCNE4
gene id: 9606:KCNE4
uniprot id: A5H1P5
uniprot id: Q8WWG9
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: Potassium voltage-gated channel subfamily E member 4
up seq anno feature ids: PRO_0000144292
up seq anno feature ids: VAR_024411
up seq anno feature ids: VAR_030620

9606:ADAMTS13
gene id: 9606:ADAMTS13
uniprot id: Q76LX8
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: Secondary Structure
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: 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: 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: A disintegrin and metalloproteinase with thrombospondin motifs 13
up seq anno comments: Abolishes pro-domain removal but no loss of proteolytic activity; when associated with D-73.
up seq anno comments: Abolishes pro-domain removal but no loss of proteolytic activity; when associated with K-71.
up seq anno comments: C-linked (Man) tryptophan
up seq anno comments: CUB 1
up seq anno comments: CUB 2
up seq anno comments: Cell attachment site
up seq anno comments: Disintegrin
up seq anno comments: Does not affect protein secretion.
up seq anno comments: Does not affect protein secretion; normal proteolytic activity.
up seq anno comments: Dramatically reduced affinity for calcium.
up seq anno comments: Found in a patient with hemolytic uremic syndrome.
up seq anno comments: In TTP.
up seq anno comments: In TTP; affects protein secretion.
up seq anno comments: In TTP; affects protein secretion; the mutant protein has reduced protease activity.
up seq anno comments: In TTP; impairs protein secretion and proteolytic activity.
up seq anno comments: In TTP; impairs protein secretion.
up seq anno comments: In TTP; impairs protein secretion; the mutant protein has reduced protease activity.
up seq anno comments: In TTP; low activity.
up seq anno comments: In TTP; mild effect on protein secretion; strong reduction of proteolytic activity.
up seq anno comments: In TTP; reduces protein secretion and proteolytic activity.
up seq anno comments: In a patient with thrombotic thrombocytopenic purpura.
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: N-linked (GlcNAc...) (complex) asparagine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No change in calcium dependence for proteolysis.
up seq anno comments: No effect on cleavage of VWF and greatly reduced secretion of ADAMTS13. Abolishes most of the secretion of ADAMTS13; when associated with A-965.
up seq anno comments: No effect on cleavage of VWF and greatly reduced secretion of ADAMTS13. Abolishes secretion of ADAMTS13; when associated with A-399.
up seq anno comments: No effect on cleavage of VWF and little change in secretion of ADAMTS13.
up seq anno comments: No effect on cleavage of VWF and little change in secretion of ADAMTS13. Abolishes most of the secretion of ADAMTS13; when associated with A-1027.
up seq anno comments: No effect on cleavage of VWF and little change in secretion of ADAMTS13. Abolishes most of the secretion of ADAMTS13; when associated with A-1087.
up seq anno comments: No effect on cleavage of VWF and little change in secretion of ADAMTS13. Abolishes most of the secretion of ADAMTS13; when associated with A-907.
up seq anno comments: No effect on cleavage of VWF and little change in secretion of ADAMTS13. Abolishes secretion of ADAMTS13; when associated with A-698.
up seq anno comments: O-linked (Fuc...) serine
up seq anno comments: Peptidase M12B
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: TSP type-1 7
up seq anno comments: TSP type-1 8
up seq anno feature ids: PRO_0000247510
up seq anno feature ids: PRO_0000247511
up seq anno feature ids: VAR_027109
up seq anno feature ids: VAR_027110
up seq anno feature ids: VAR_027111
up seq anno feature ids: VAR_027112
up seq anno feature ids: VAR_027113
up seq anno feature ids: VAR_027114
up seq anno feature ids: VAR_027115
up seq anno feature ids: VAR_027116

9606:MAP3K12
gene id: 9606:MAP3K12
uniprot id: A0A024RAY5
uniprot id: Q12852
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: Secondary Structure
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: 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: In a breast pleomorphic lobular carcinoma sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Mitogen-activated protein kinase kinase kinase 12
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 feature ids: PRO_0000086261
up seq anno feature ids: VAR_040705
up seq anno feature ids: VAR_040706
up seq anno feature ids: VAR_040707
up seq anno feature ids: VSP_044646

9606:PPIAL4G
gene id: 9606:PPIAL4G
uniprot id: P0DN37
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: PPIase cyclophilin-type
up seq anno comments: Peptidyl-prolyl cis-trans isomerase A-like 4G
up seq anno feature ids: PRO_0000324639

9606:FDXR
gene id: 9606:FDXR
uniprot id: A0A0A0MSZ4
uniprot id: A0A0A0MT64
uniprot id: A0A0A0MTN9
uniprot id: A0A0A0MTR6
uniprot id: A0A0C4DFN8
uniprot id: A0A0C4DGN7
uniprot id: P22570
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: 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 labels: Transit Peptide
up seq anno comments: In ANOA.
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 Long.
up seq anno comments: Mitochondrion
up seq anno comments: NADPH:adrenodoxin oxidoreductase, mitochondrial
up seq anno comments: Phosphoserine
up seq anno comments: Pyr_redox_2
up seq anno feature ids: PRO_0000019420
up seq anno feature ids: VAR_004624
up seq anno feature ids: VAR_025192
up seq anno feature ids: VAR_025193
up seq anno feature ids: VAR_025194
up seq anno feature ids: VAR_025195
up seq anno feature ids: VAR_025196
up seq anno feature ids: VAR_025197
up seq anno feature ids: VAR_025198
up seq anno feature ids: VAR_025199
up seq anno feature ids: VAR_080376
up seq anno feature ids: VAR_080377
up seq anno feature ids: VAR_080378
up seq anno feature ids: VAR_080379
up seq anno feature ids: VAR_080380
up seq anno feature ids: VSP_003416
up seq anno feature ids: VSP_045135
up seq anno feature ids: VSP_046669
up seq anno feature ids: VSP_046670
up seq anno feature ids: VSP_046671
up seq anno feature ids: VSP_046672
up seq anno feature ids: VSP_046673

9606:ZNRF3
gene id: 9606:ZNRF3
uniprot id: A0A024R1J1
uniprot id: Q9ULT6
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 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: Signal Peptide
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: Abolishes interaction with RSPO1 and prevents subsequent membrane clearance.
up seq anno comments: Basic residues
up seq anno comments: Cytoplasmic
up seq anno comments: E3 ubiquitin-protein ligase ZNRF3
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno comments: RING-type
up seq anno comments: RING-type; atypical
up seq anno feature ids: PRO_0000277806
up seq anno feature ids: VSP_044043

9606:ACOX3
gene id: 9606:ACOX3
uniprot id: O15254
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 labels: Chain
up seq anno labels: Initiator Methionine
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: In isoform 2.
up seq anno comments: Microbody targeting signal
up seq anno comments: N-acetylalanine
up seq anno comments: Peroxisomal acyl-coenzyme A oxidase 3
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000204685
up seq anno feature ids: VAR_030802
up seq anno feature ids: VAR_030803
up seq anno feature ids: VSP_023355
up seq anno feature ids: VSP_023356

9606:TF
gene id: 9606:TF
uniprot id: A0PJA6
uniprot id: P02787
uniprot id: Q06AH7
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: Secondary Structure
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: Helix
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: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Dimethylated arginine
up seq anno comments: In ATRAF.
up seq anno comments: In allele TF*B2.
up seq anno comments: In allele TF*BV.
up seq anno comments: In allele TF*C2.
up seq anno comments: In allele TF*C3; associated with a reduction in total iron binding capacity; risk factor for iron deficiency anemia in menstruating white women.
up seq anno comments: In allele TF*CHI.
up seq anno comments: In allele TF*D1.
up seq anno comments: N-linked (GlcNAc...) (complex) asparagine
up seq anno comments: N-linked (GlcNAc...) asparagine; atypical; partial
up seq anno comments: O-linked (GalNAc...) serine
up seq anno comments: Phosphoserine; by FAM20C
up seq anno comments: Serotransferrin
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: CAR_000073
up seq anno feature ids: CAR_000074
up seq anno feature ids: CAR_000075
up seq anno feature ids: PRO_0000035715
up seq anno feature ids: PRO_5004165272
up seq anno feature ids: VAR_007544
up seq anno feature ids: VAR_007545
up seq anno feature ids: VAR_011997
up seq anno feature ids: VAR_011998
up seq anno feature ids: VAR_011999
up seq anno feature ids: VAR_012000
up seq anno feature ids: VAR_012001
up seq anno feature ids: VAR_012997
up seq anno feature ids: VAR_012998
up seq anno feature ids: VAR_012999
up seq anno feature ids: VAR_029280
up seq anno feature ids: VAR_034569
up seq anno feature ids: VAR_034570
up seq anno feature ids: VAR_034571
up seq anno feature ids: VAR_038810
up seq anno feature ids: VAR_058199

9606:GDF3
gene id: 9606:GDF3
uniprot id: Q9NR23
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Growth/differentiation factor 3
up seq anno comments: In KFS3 and MCOPCB6; reduces the amount of active ligand secreted; reduced amout of mature protein in the cytosol.
up seq anno comments: In MCOP7; also detected in a patient with bilateral iris coloboma; reduces the amount of active ligand secreted.
up seq anno comments: In MCOP7; reduces the amount of active ligand secreted.
up seq anno comments: In MCOPCB6.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000033908
up seq anno feature ids: PRO_0000033909
up seq anno feature ids: VAR_020064
up seq anno feature ids: VAR_052574
up seq anno feature ids: VAR_065147
up seq anno feature ids: VAR_065148
up seq anno feature ids: VAR_065149
up seq anno feature ids: VAR_065150

9606:SEMA3B
gene id: 9606:SEMA3B
uniprot id: A0A0C4DGV8
uniprot id: B4DEK9
uniprot id: Q13214
uniprot id: Q6PI51
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 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: 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 comments: Basic and acidic residues
up seq anno comments: Ig-like
up seq anno comments: Ig-like C2-type
up seq anno comments: In a non-small cell lung cancer cell line.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Sema
up seq anno comments: Semaphorin-3B
up seq anno feature ids: PRO_0000032309
up seq anno feature ids: PRO_5002178529
up seq anno feature ids: VAR_014221
up seq anno feature ids: VAR_014222
up seq anno feature ids: VAR_014223
up seq anno feature ids: VSP_023032

9606:ST8SIA1
gene id: 9606:ST8SIA1
uniprot id: Q92185
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: 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: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase
up seq anno comments: Cytoplasmic
up seq anno comments: Enzyme activity is 19% of the wild-type.
up seq anno comments: Enzyme activity is 20% of the wild-type. A 10-fold increase in Km value for ganglioside GM3. A 5-fold decrease in Vmax for both CMP-N-acetyl-beta-neuraminate and ganglioside GM3.
up seq anno comments: Enzyme activity is 33% of the wild-type. A 2-fold increase in Km value for ganglioside GM3 and 1.25 fold increase in Km value for CMP-N-acetyl-beta-neuraminate. A 3-fold decrease in Vmax for both CMP-N-acetyl-beta-neuraminate and ganglioside GM3.
up seq anno comments: Enzyme activity is 42% of the wild-type. A 2.5-fold increase in Km value for CMP-N-acetyl-beta-neuraminate. A 2.3-fold decrease in Vmax for both CMP-N-acetyl-beta-neuraminate and ganglioside GM3.
up seq anno comments: Enzyme activity is 91% of the wild-type.
up seq anno comments: Enzyme activity is 98% of the wild-type.
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: Proton donor/acceptor
up seq anno feature ids: PRO_0000149282
up seq anno feature ids: VSP_047583
up seq anno feature ids: VSP_047584

9606:GTF3A
gene id: 9606:GTF3A
uniprot id: Q92664
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 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:ZMAT3
gene id: 9606:ZMAT3
uniprot id: Q9HA38
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: In isoform 2.
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 matrin-type protein 3
up seq anno feature ids: PRO_0000310779
up seq anno feature ids: VSP_040093

9606:TMC6
gene id: 9606:TMC6
uniprot id: A0A024R8V2
uniprot id: Q7Z403
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 labels: Chain
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: 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: 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: Omega-N-methylarginine
up seq anno comments: Phosphothreonine
up seq anno comments: TMC
up seq anno comments: Transmembrane channel-like protein 6
up seq anno feature ids: PRO_0000185384
up seq anno feature ids: VAR_023963
up seq anno feature ids: VAR_052336
up seq anno feature ids: VAR_061851
up seq anno feature ids: VSP_016437
up seq anno feature ids: VSP_016438
up seq anno feature ids: VSP_016439
up seq anno feature ids: VSP_016440
up seq anno feature ids: VSP_016441
up seq anno feature ids: VSP_016442

9606:PCDHB4
gene id: 9606:PCDHB4
uniprot id: Q9Y5E5
up 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 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:KRTAP21-1
gene id: 9606:KRTAP21-1
uniprot id: Q3LI58
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: Keratin-associated protein 21-1
up seq anno feature ids: PRO_0000223912
up seq anno feature ids: VAR_036563

9606:H2BC10
gene id: 9606:H2BC10
uniprot id: B2R4S9
uniprot id: P62807
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: Secondary Structure
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: 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: 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
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:COA8
gene id: 9606:COA8
uniprot id: Q96IL0
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Transit Peptide
up seq anno comments: Cytochrome c oxidase assembly factor 8
up seq anno comments: In MC4DN17.
up seq anno comments: In MC4DN17; low steady-state levels of COX subunits and reduced levels of fully assembled COX; highly decreased COX complex IV activity and decreased COX complex II activity in muscle.
up seq anno comments: In MC4DN17; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: Mitochondrion
up seq anno feature ids: PRO_0000019559
up seq anno feature ids: VAR_023000
up seq anno feature ids: VAR_033745
up seq anno feature ids: VAR_082029
up seq anno feature ids: VAR_082030
up seq anno feature ids: VAR_082031
up seq anno feature ids: VSP_060246
up seq anno feature ids: VSP_060247

9606:TMEM94
gene id: 9606:TMEM94
uniprot id: A0A024R8S6
uniprot id: B7Z9U5
uniprot id: Q12767
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 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: 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: Helical
up seq anno comments: In IDDCDF.
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: Transmembrane protein 94
up seq anno feature ids: PRO_0000050731
up seq anno feature ids: VAR_019508
up seq anno feature ids: VAR_081637
up seq anno feature ids: VSP_011043
up seq anno feature ids: VSP_060138

9606:PDGFRA
gene id: 9606:PDGFRA
uniprot id: P16234
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: Secondary Structure
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: 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 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 CRK.
up seq anno comments: Abolishes interaction with SRC-family members and impairs internalization of the activated receptor; when associated with F-572.
up seq anno comments: Abolishes interaction with SRC-family members and impairs internalization of the activated receptor; when associated with F-574.
up seq anno comments: Basic and acidic residues
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 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 GIST sample; constitutively activated kinase.
up seq anno comments: In GIST.
up seq anno comments: In GISTPS; increased platelet-derived growth factor alpha-receptor activity; constitutively activated kinase.
up seq anno comments: In GISTPS; unknown pathological significance.
up seq anno comments: In a GIST sample; constitutively activated kinase.
up seq anno comments: In a GIST sample; imatinib resistant, constitutively activated kinase.
up seq anno comments: In a GIST sample; imatinib sensitive, constitutively activated kinase.
up seq anno comments: In a glioblastoma multiforme sample; somatic mutation.
up seq anno comments: In a hypereosinophilic syndrome sample; constitutively activated kinase.
up seq anno comments: In a hypereosinophilic syndrome sample; does not lead to constitutive kinase activation.
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: N-linked (GlcNAc...) asparagine
up seq anno comments: No effect on autophosphorylation and phosphorylation of PLCG1. Abolishes activation of phosphatidylinositol 3-kinase.
up seq anno comments: Phosphotyrosine; by autocatalysis
up seq anno comments: Platelet-derived growth factor receptor alpha
up seq anno comments: Polar residues
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Strongly reduced interaction with PTPN11 and GRB2.
up seq anno feature ids: PRO_0000016760
up seq anno feature ids: VAR_034378
up seq anno feature ids: VAR_042032
up seq anno feature ids: VAR_042033
up seq anno feature ids: VAR_042034
up seq anno feature ids: VAR_042035
up seq anno feature ids: VAR_042036
up seq anno feature ids: VAR_042037
up seq anno feature ids: VAR_066460
up seq anno feature ids: VAR_066461
up seq anno feature ids: VAR_066462
up seq anno feature ids: VAR_066463
up seq anno feature ids: VAR_066464
up seq anno feature ids: VAR_066465
up seq anno feature ids: VAR_066466
up seq anno feature ids: VAR_066467
up seq anno feature ids: VAR_066468
up seq anno feature ids: VAR_066469
up seq anno feature ids: VAR_066470
up seq anno feature ids: VAR_066471

9606:FANCD2OS
gene id: 9606:FANCD2OS
uniprot id: Q96PS1
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno comments: FANCD2 opposite strand protein
up seq anno feature ids: PRO_0000235343

9606:TRAPPC13
gene id: 9606:TRAPPC13
uniprot id: A5PLN9
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
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: Trafficking protein particle complex subunit 13
up seq anno feature ids: PRO_0000321547
up seq anno feature ids: VSP_038356
up seq anno feature ids: VSP_038357
up seq anno feature ids: VSP_038358
up seq anno feature ids: VSP_038359

9606:LURAP1L
gene id: 9606:LURAP1L
uniprot id: Q8IV03
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
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:KCNJ8
gene id: 9606:KCNJ8
uniprot id: A0A024RAV6
uniprot id: Q15842
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
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: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: ATP-sensitive inward rectifier potassium channel 8
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Found in Brugada syndrome and other J-wave syndromes; unknown pathological significance; the mutant channel displays an increase in glibenclamide-sensitive potassium currents compared to wild type.
up seq anno comments: Helical
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: IRK
up seq anno comments: IRK_C
up seq anno comments: In HTOCD; unknown pathological significance; displays gain of function; displays reduced ATP sensitivity.
up seq anno comments: In HTOCD; unknown pathological significance; displays gain of function; increased open state stability, reduced sensitivity to ATP inhibition and increased channel activity; almost completely abolishes high affinity sensitivity to glibenclamide, an inhibitor of ATP-sensitive potassium channels.
up seq anno comments: In SIDS; the mutant channel displays reduced potassium currents compared to wild type.
up seq anno comments: No effect on channel activity.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pore-forming
up seq anno comments: Selectivity filter
up seq anno feature ids: PRO_0000154947
up seq anno feature ids: VAR_049670
up seq anno feature ids: VAR_065225
up seq anno feature ids: VAR_065878
up seq anno feature ids: VAR_065879
up seq anno feature ids: VAR_075226
up seq anno feature ids: VAR_079518

9606:PTX4
gene id: 9606:PTX4
uniprot id: Q96A99
up 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: 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 Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: In isoform 1.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Pentraxin (PTX)
up seq anno comments: Pentraxin-4
up seq anno feature ids: PRO_0000320645
up seq anno feature ids: VAR_039249
up seq anno feature ids: VAR_039250
up seq anno feature ids: VAR_039251
up seq anno feature ids: VAR_039252
up seq anno feature ids: VAR_039253
up seq anno feature ids: VAR_060084
up seq anno feature ids: VAR_062130
up seq anno feature ids: VSP_040203

9606:DNAH9
gene id: 9606:DNAH9
uniprot id: Q99499
uniprot id: Q9NYC9
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: 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: AAA_lid_11
up seq anno comments: Dynein axonemal heavy chain 9
up seq anno comments: Dynein_C
up seq anno comments: Dynein_heavy
up seq anno comments: In CILD40.
up seq anno comments: In CILD40; associated in cis with E-1881; no protein detected by Western blot when associated with E-1881; loss of localization to cilium axonema when associated with E-1881.
up seq anno comments: In CILD40; associated in cis with H-2965; no protein detected by Western blot when associated with H-2965; loss of localization to cilium axonema associated with H-2965.
up seq anno comments: In CILD40; loss of localization to cilium axonema.
up seq anno comments: In CILD40; 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 feature ids: PRO_0000114632
up seq anno feature ids: VAR_036214
up seq anno feature ids: VAR_036215
up seq anno feature ids: VAR_036216
up seq anno feature ids: VAR_046312
up seq anno feature ids: VAR_046313
up seq anno feature ids: VAR_046314
up seq anno feature ids: VAR_046315
up seq anno feature ids: VAR_046316
up seq anno feature ids: VAR_046317
up seq anno feature ids: VAR_046318
up seq anno feature ids: VAR_046319
up seq anno feature ids: VAR_046320
up seq anno feature ids: VAR_046321
up seq anno feature ids: VAR_046322
up seq anno feature ids: VAR_046323
up seq anno feature ids: VAR_046324
up seq anno feature ids: VAR_046325
up seq anno feature ids: VAR_046326
up seq anno feature ids: VAR_046327
up seq anno feature ids: VAR_081802
up seq anno feature ids: VAR_081803
up seq anno feature ids: VAR_081804
up seq anno feature ids: VAR_081805
up seq anno feature ids: VAR_081806
up seq anno feature ids: VAR_081807
up seq anno feature ids: VAR_081808
up seq anno feature ids: VAR_081809
up seq anno feature ids: VSP_035285
up seq anno feature ids: VSP_043443

9606:SEC14L3
gene id: 9606:SEC14L3
uniprot id: Q495V9
uniprot id: Q6XCI7
uniprot id: Q9UDX4
up 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 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:ARID1B
gene id: 9606:ARID1B
uniprot id: Q8NFD5
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: Secondary Structure
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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: ARID
up seq anno comments: AT-rich interactive domain-containing protein 1B
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: Found in a patient with autism; unknown pathological significance.
up seq anno comments: Found in a patient with short stature; unknown pathological significance.
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: LXXLL
up seq anno comments: N-acetylalanine
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: Probable disease-associated variant found in a patient with short stature; de novo mutation.
up seq anno comments: Removed
up seq anno feature ids: PRO_0000200576
up seq anno feature ids: VAR_036257
up seq anno feature ids: VAR_067662
up seq anno feature ids: VAR_067663
up seq anno feature ids: VAR_067664
up seq anno feature ids: VAR_067665
up seq anno feature ids: VAR_067666
up seq anno feature ids: VAR_067667
up seq anno feature ids: VAR_067668
up seq anno feature ids: VAR_067669
up seq anno feature ids: VAR_067670
up seq anno feature ids: VAR_067671
up seq anno feature ids: VAR_067672
up seq anno feature ids: VAR_067673
up seq anno feature ids: VAR_067674
up seq anno feature ids: VAR_067675
up seq anno feature ids: VAR_067676
up seq anno feature ids: VAR_067677
up seq anno feature ids: VAR_067678
up seq anno feature ids: VAR_067679
up seq anno feature ids: VAR_067680
up seq anno feature ids: VAR_067681
up seq anno feature ids: VAR_067682
up seq anno feature ids: VAR_067683
up seq anno feature ids: VAR_067684
up seq anno feature ids: VAR_067685
up seq anno feature ids: VAR_067686
up seq anno feature ids: VAR_067687
up seq anno feature ids: VAR_067688
up seq anno feature ids: VAR_067689
up seq anno feature ids: VAR_067690
up seq anno feature ids: VAR_067691
up seq anno feature ids: VAR_067692
up seq anno feature ids: VAR_067693
up seq anno feature ids: VAR_077456
up seq anno feature ids: VAR_077457
up seq anno feature ids: VAR_077458
up seq anno feature ids: VAR_077459
up seq anno feature ids: VAR_078697
up seq anno feature ids: VAR_078698
up seq anno feature ids: VSP_061510
up seq anno feature ids: VSP_061511

9606:ARSD
gene id: 9606:ARSD
uniprot id: A0A140VK06
uniprot id: P51689
up 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: 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: Modified Residue
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: 3-oxoalanine (Cys)
up seq anno comments: Arylsulfatase D
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: Nucleophile
up seq anno comments: Sulfatase
up seq anno comments: via 3-oxoalanine
up seq anno feature ids: PRO_0000033424
up seq anno feature ids: PRO_5007491840
up seq anno feature ids: VAR_052508
up seq anno feature ids: VAR_052509
up seq anno feature ids: VAR_052510
up seq anno feature ids: VSP_015798
up seq anno feature ids: VSP_015799
up seq anno feature ids: VSP_035667

9606:ID2
gene id: 9606:ID2
uniprot id: Q02363
uniprot id: Q53T66
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 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:NRXN2
gene id: 9606:NRXN2
uniprot id: G5E9G7
uniprot id: P58401
uniprot id: Q9P2S2
up 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: 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: 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: 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: EGF-like 3
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2a.
up seq anno comments: LAM_G_DOMAIN
up seq anno comments: Laminin G-like
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 G-like 6
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Neurexin-2
up seq anno comments: Neurexin-2-beta
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000019495
up seq anno feature ids: PRO_0000019497
up seq anno feature ids: PRO_5014092034
up seq anno feature ids: VAR_050266
up seq anno feature ids: VSP_003505
up seq anno feature ids: VSP_003506
up seq anno feature ids: VSP_003507
up seq anno feature ids: VSP_003508

9606:C21orf58
gene id: 9606:C21orf58
uniprot id: P58505
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 labels: Chain
up seq anno labels: Compositionally Biased 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: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Uncharacterized protein C21orf58
up seq anno feature ids: PRO_0000079521
up seq anno feature ids: VSP_003827
up seq anno feature ids: VSP_003828
up seq anno feature ids: VSP_057984

9606:BARD1
gene id: 9606:BARD1
uniprot id: A0A087WZ19
uniprot id: A0AVN2
uniprot id: C9IYG1
uniprot id: F6MDI0
uniprot id: F6MDI1
uniprot id: F6MDI2
uniprot id: Q99728
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: Secondary Structure
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: Non-terminal 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 labels: Zinc Finger
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; degenerate
up seq anno comments: BRCA1-associated RING domain protein 1
up seq anno comments: BRCT
up seq anno comments: BRCT 1
up seq anno comments: BRCT 2
up seq anno comments: Basic and acidic residues
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In an ovarian clear cell adenocarcinoma.
up seq anno comments: In an uterine cancer sample; somatic mutation.
up seq anno comments: In isoform alpha.
up seq anno comments: In isoform beta.
up seq anno comments: In isoform gamma.
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_0000055819
up seq anno feature ids: VAR_010354
up seq anno feature ids: VAR_010355
up seq anno feature ids: VAR_010356
up seq anno feature ids: VAR_010357
up seq anno feature ids: VAR_010358
up seq anno feature ids: VAR_010359
up seq anno feature ids: VAR_010360
up seq anno feature ids: VAR_010361
up seq anno feature ids: VAR_020109
up seq anno feature ids: VAR_024611
up seq anno feature ids: VAR_028309
up seq anno feature ids: VAR_038371
up seq anno feature ids: VAR_038372
up seq anno feature ids: VSP_055874
up seq anno feature ids: VSP_055875
up seq anno feature ids: VSP_055876
up seq anno feature ids: VSP_055877
up seq anno feature ids: VSP_055878

9606:HS3ST4
gene id: 9606:HS3ST4
uniprot id: Q9Y661
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: 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: 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: Heparan sulfate glucosamine 3-O-sulfotransferase 4
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_0000085221
up seq anno feature ids: VAR_069580

9606:CGGBP1
gene id: 9606:CGGBP1
uniprot id: Q9UFW8
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 labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Sequence Conflict
up seq anno comments: CGG triplet repeat-binding protein 1
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000252415

9606:HPS6
gene id: 9606:HPS6
uniprot id: Q86YV9
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno comments: BLOC-2 complex member HPS6
up seq anno feature ids: PRO_0000084056

9606:WNT10B
gene id: 9606:WNT10B
uniprot id: O00744
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 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: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Associated with obesity; abrogates the ability of WNT10B to activate canonical Wnt signaling and blocks adipogenesis.
up seq anno comments: In SHFM6.
up seq anno comments: In STHAG8; reduced activation of Wnt signaling; reduced endothelial differentiation.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: O-palmitoleoyl serine; by PORCN
up seq anno comments: Phosphothreonine
up seq anno comments: Protein Wnt-10b
up seq anno feature ids: PRO_0000041463
up seq anno feature ids: VAR_062512
up seq anno feature ids: VAR_062513
up seq anno feature ids: VAR_062514
up seq anno feature ids: VAR_062515
up seq anno feature ids: VAR_062516
up seq anno feature ids: VAR_076926
up seq anno feature ids: VSP_056289
up seq anno feature ids: VSP_056290

9606:MIOS
gene id: 9606:MIOS
uniprot id: A0A024RA24
uniprot id: Q9NXC5
up 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 labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Repeat
up seq anno labels: Splice Variant
up seq anno comments: GATOR complex protein MIOS
up seq anno comments: In isoform 2.
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: zinc_ribbon_16
up seq anno feature ids: PRO_0000329404
up seq anno feature ids: VSP_032979
up seq anno feature ids: VSP_032980

9606:RAB13
gene id: 9606:RAB13
uniprot id: P51153
uniprot id: Q504R6
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: Site
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: Non-terminal Residue
up seq anno labels: Propeptide
up seq anno comments: (Microbial infection) N6-stearoyl lysine
up seq anno comments: Constitutively active mutant locked in the active GTP-bound form. Impairs transports of cargo from the trans-Golgi network to the recycling endosomes and alters the assembly of functional tight junctions.
up seq anno comments: Cysteine methyl ester
up seq anno comments: Dominant negative.
up seq anno comments: Effector region
up seq anno comments: In 3KR mutant; abolished stearoylation in response to S.flexneri infection.
up seq anno comments: Phosphoserine
up seq anno comments: Ras-related protein Rab-13
up seq anno comments: Removed in mature form
up seq anno comments: S-geranylgeranyl cysteine
up seq anno feature ids: PRO_0000121182
up seq anno feature ids: PRO_0000370756

9606:CARD19
gene id: 9606:CARD19
uniprot id: A0A024R248
uniprot id: Q96LW7
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: Secondary Structure
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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Transmembrane
up seq anno comments: Abolishes the NF-kappa-B inhibitory activity.
up seq anno comments: CARD
up seq anno comments: Caspase recruitment domain-containing protein 19
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Redox-active
up seq anno feature ids: PRO_0000064927
up seq anno feature ids: VSP_014723

9606:OLFM4
gene id: 9606:OLFM4
uniprot id: A0A024QZ95
uniprot id: Q6UX06
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 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: PRO_5001536525
up seq anno feature ids: VAR_037246

9606:TSHZ2
gene id: 9606:TSHZ2
uniprot id: Q9NRE2
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 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: 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: 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:ARRDC4
gene id: 9606:ARRDC4
uniprot id: A0A024RC80
uniprot id: A8K2F6
uniprot id: Q8NCT1
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Sequence Variant
up seq anno comments: Arrestin domain-containing protein 4
up seq anno comments: Arrestin_C
up seq anno comments: PPxY motif 1
up seq anno comments: PPxY motif 2
up seq anno feature ids: PRO_0000244353
up seq anno feature ids: VAR_026899
up seq anno feature ids: VAR_026900
up seq anno feature ids: VAR_026901

9606:SLC50A1
gene id: 9606:SLC50A1
uniprot id: A0A087WXX5
uniprot id: Q5SR67
uniprot id: Q9BRV3
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 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: 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: MtN3/slv 1
up seq anno comments: MtN3/slv 2
up seq anno comments: Sugar transporter SWEET1
up seq anno feature ids: PRO_0000345116
up seq anno feature ids: VSP_034916
up seq anno feature ids: VSP_034917
up seq anno feature ids: VSP_034918

9606:ZXDB
gene id: 9606:ZXDB
uniprot id: P98169
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased 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: Pro residues
up seq anno comments: Zinc finger X-linked protein ZXDB
up seq anno feature ids: PRO_0000047777
up seq anno feature ids: VAR_033003
up seq anno feature ids: VAR_033004
up seq anno feature ids: VAR_033005
up seq anno feature ids: VAR_033006

9606:RLIM
gene id: 9606:RLIM
uniprot id: Q9NVW2
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: Secondary Structure
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: 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: E3 ubiquitin-protein ligase RLIM
up seq anno comments: In TOKAS.
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylmethionine
up seq anno comments: PDZ-binding
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: RING-type
up seq anno feature ids: PRO_0000056052
up seq anno feature ids: VAR_074175
up seq anno feature ids: VAR_077826
up seq anno feature ids: VAR_077827
up seq anno feature ids: VAR_077828
up seq anno feature ids: VAR_077829
up seq anno feature ids: VSP_055428
up seq anno feature ids: VSP_055429

9606:LAMA1
gene id: 9606:LAMA1
uniprot id: P25391
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 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: Motif
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Cell attachment site
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 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-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 1
up seq anno comments: Laminin IV type A 2
up seq anno comments: Laminin N-terminal
up seq anno comments: Laminin subunit alpha-1
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000017054
up seq anno feature ids: VAR_056132
up seq anno feature ids: VAR_056133
up seq anno feature ids: VAR_056134
up seq anno feature ids: VAR_056135
up seq anno feature ids: VAR_056136
up seq anno feature ids: VAR_056137
up seq anno feature ids: VAR_056138
up seq anno feature ids: VAR_056139
up seq anno feature ids: VAR_060785
up seq anno feature ids: VAR_060786
up seq anno feature ids: VAR_060787
up seq anno feature ids: VAR_060788
up seq anno feature ids: VAR_061347

9606:EIF4A1
gene id: 9606:EIF4A1
uniprot id: P60842
up 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: 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: Motif
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: Eukaryotic initiation factor 4A-I
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 isoform 2.
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: Q motif
up seq anno comments: Removed
up seq anno feature ids: PRO_0000054933
up seq anno feature ids: VSP_046032

9606:ZKSCAN8
gene id: 9606:ZKSCAN8
uniprot id: A0A024RCK7
uniprot id: Q15776
uniprot id: Q59HG5
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 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: 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: 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: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: SCAN box
up seq anno comments: Zinc finger protein with KRAB and SCAN domains 8
up seq anno feature ids: PRO_0000047445
up seq anno feature ids: VAR_009877
up seq anno feature ids: VSP_056437
up seq anno feature ids: VSP_056438

9606:PKDCC
gene id: 9606:PKDCC
uniprot id: Q504Y2
up 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: 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: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Basic and acidic residues
up seq anno comments: Extracellular tyrosine-protein kinase PKDCC
up seq anno comments: In RLSDF.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Pro residues
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000263010
up seq anno feature ids: VAR_083938

9606:KCTD18
gene id: 9606:KCTD18
uniprot id: A8K4A2
uniprot id: Q6PI47
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: BTB
up seq anno comments: BTB/POZ domain-containing protein KCTD18
up seq anno comments: BTB_2
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: KCTD18_C
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000248596
up seq anno feature ids: VAR_027355
up seq anno feature ids: VAR_027356
up seq anno feature ids: VAR_027357
up seq anno feature ids: VAR_027358
up seq anno feature ids: VSP_020323
up seq anno feature ids: VSP_020324
up seq anno feature ids: VSP_020325
up seq anno feature ids: VSP_020326

9606:HRCT1
gene id: 9606:HRCT1
uniprot id: Q6UXD1
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: Histidine-rich carboxyl terminus protein 1
up seq anno feature ids: PRO_0000317638

9606:STK11
gene id: 9606:STK11
uniprot id: A0A0S2Z4D1
uniprot id: Q15831
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: Secondary Structure
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: 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: 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: Enhanced phosphorylation at Thr-336 and Ser-428, enhanced cytoplasmic localization and increased kinase activity.
up seq anno comments: Impaired formation of a heterotrimeric complex with STRADA and CAB39; when associated with A-204.
up seq anno comments: In PJS.
up seq anno comments: In PJS; abolishes kinase activity, leading to loss of autophosphorylation.
up seq anno comments: In PJS; late onset suggests reduced penetrance.
up seq anno comments: In PJS; loss of kinase activity, leading to greatly reduced autophosphorylation; fails to phosphorylate PTEN in vitro; no significant effect on nucleocytoplasmic localization.
up seq anno comments: In PJS; pathogenicity uncertain; no effect heterotrimeric complex assembly with STRADA and CAB39.
up seq anno comments: In TGCT; a tumor with seminoma and teratoma components; associated with severely impaired but detectable kinase activity; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39; predominantly nuclear localization.
up seq anno comments: In a metastatic melanoma sample; somatic mutation.
up seq anno comments: In cervical cancer; somatic mutation.
up seq anno comments: In cervical carcinoma; somatic mutation.
up seq anno comments: In colorectal cancer; no effect heterotrimeric complex assembly with STRADA and CAB39.
up seq anno comments: In colorectal cancer; somatic mutation.
up seq anno comments: In colorectal cancer; somatic mutation; impaired kinase activity.
up seq anno comments: In colorectal cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39.
up seq anno comments: In colorectal cancer; somatic mutation; no effect heterotrimeric complex assembly with STRADA and CAB39.
up seq anno comments: In gastric carcinoma; no effect heterotrimeric complex assembly with STRADA and CAB39.
up seq anno comments: In isoform 2.
up seq anno comments: In lung cancer; somatic mutation.
up seq anno comments: In melanoma; sporadic malignant; somatic mutation.
up seq anno comments: In ovarian carcinoma; somatic mutation.
up seq anno comments: In sporadic cancer; somatic mutation; Loss of kinase activity.
up seq anno comments: In sporadic cancer; somatic mutation; does not affect kinase activity.
up seq anno comments: In sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39.
up seq anno comments: In sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39; requires 2 nucleotide substitutions.
up seq anno comments: In sporadic cancer; somatic mutation; no effect heterotrimeric complex assembly with STRADA and CAB39.
up seq anno comments: In sporadic cancer; somatic mutation; no effect on kinase activity nor in heterotrimeric complex assembly with STRADA and CAB39.
up seq anno comments: Loss of kinase activity, leading to greatly reduced autophosphorylation.
up seq anno comments: Loss of kinase activity, leading to reduced autophosphorylation and acting as a dominant-negative mutant.
up seq anno comments: Loss of kinase activity.
up seq anno comments: N6-acetyllysine
up seq anno comments: No effect on basal nucleocytoplasmic localization, but fails to translocate to the cytoplasm when coexpressed with SIRT1.
up seq anno comments: No effect on kinase activity.
up seq anno comments: No effect. Impaired formation of a heterotrimeric complex with STRADA and CAB39; when associated with A-74.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by autocatalysis, PKA, PKC/PRKCZ and RPS6KA1
up seq anno comments: Phosphothreonine; by ATM and autocatalysis
up seq anno comments: Phosphothreonine; by autocatalysis
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Reduced phosphorylation.
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: Serine/threonine-protein kinase STK11
up seq anno feature ids: PRO_0000086699
up seq anno feature ids: PRO_0000422300
up seq anno feature ids: VAR_006202
up seq anno feature ids: VAR_006203
up seq anno feature ids: VAR_007920
up seq anno feature ids: VAR_007921
up seq anno feature ids: VAR_007922
up seq anno feature ids: VAR_033138
up seq anno feature ids: VAR_033139
up seq anno feature ids: VAR_033140

9606:POLD2
gene id: 9606:POLD2
uniprot id: A0A087WWF6
uniprot id: P49005
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: Secondary Structure
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: DNA polymerase delta subunit 2
up seq anno comments: DNA_pol_D_N
up seq anno comments: DNA_pol_E_B
up seq anno comments: Loss of POLD3-binding in a yeast two-hybrid assay.
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000096166
up seq anno feature ids: VAR_014885

9606:OR2B6
gene id: 9606:OR2B6
uniprot id: A0A126GW55
uniprot id: P58173
up 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 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_RECEP_F1_2
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 2B6
up seq anno feature ids: PRO_0000150462
up seq anno feature ids: VAR_024090
up seq anno feature ids: VAR_053131

9606:MKRN3
gene id: 9606:MKRN3
uniprot id: Q13064
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
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: In CPPB2.
up seq anno comments: In a colorectal cancer sample; somatic mutation.
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:GAGE12F
gene id: 9606:GAGE12F
uniprot id: O76087
uniprot id: P0CL80
uniprot id: P0CL81
uniprot id: P0CL82
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: G antigen 12F
up seq anno comments: G antigen 12G
up seq anno comments: G antigen 12I
up seq anno comments: G antigen 7
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000148345
up seq anno feature ids: PRO_0000311978
up seq anno feature ids: PRO_0000407492
up seq anno feature ids: PRO_0000407493
up seq anno feature ids: VSP_040953

9606:COMMD5
gene id: 9606:COMMD5
uniprot id: Q9GZQ3
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 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: COMM
up seq anno comments: COMM domain-containing protein 5
up seq anno comments: N-acetylserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000077395
up seq anno feature ids: VAR_020130
up seq anno feature ids: VAR_048812

9606:TNFAIP8L3
gene id: 9606:TNFAIP8L3
uniprot id: Q5GJ75
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Sequence Variant
up seq anno comments: Tumor necrosis factor alpha-induced protein 8-like protein 3
up seq anno feature ids: PRO_0000331424
up seq anno feature ids: VAR_042860

9606:RBMY1D
gene id: 9606:RBMY1D
uniprot id: P0C7P1
uniprot id: P0DJD3
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Basic and acidic residues
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Polar residues
up seq anno comments: RNA-binding motif protein, Y chromosome, family 1 member A1
up seq anno comments: RNA-binding motif protein, Y chromosome, family 1 member D
up seq anno comments: RRM
up seq anno feature ids: PRO_0000081899
up seq anno feature ids: PRO_0000341538
up seq anno feature ids: VSP_042315
up seq anno feature ids: VSP_042316
up seq anno feature ids: VSP_056242

9606:TNS2
gene id: 9606:TNS2
uniprot id: A0A024RB48
uniprot id: Q63HR2
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: Secondary Structure
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: 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 labels: Zinc Finger
up seq anno comments: 6-fold reduction in affinity for PtdIns(3,4,5)P3 and reduced IRS1 dephosphorylation but does not affect cell membrane localization or affinity for a tyrosine-phosphorylated peptide; when associated with Q-1142 and Q-1155.
up seq anno comments: 6-fold reduction in affinity for PtdIns(3,4,5)P3 and reduced IRS1 dephosphorylation but does not affect cell membrane localization or affinity for a tyrosine-phosphorylated peptide; when associated with Q-1142 and Q-1157.
up seq anno comments: 6-fold reduction in affinity for PtdIns(3,4,5)P3 and reduced IRS1 dephosphorylation but does not affect cell membrane localization or affinity for a tyrosine-phosphorylated peptide; when associated with Q-1155 and Q-1157.
up seq anno comments: Basic and acidic residues
up seq anno comments: C2 tensin-type
up seq anno comments: Does not affect affinity for PtdIns(3,4,5)P3. Reduced affinity for tyrosine-phosphorylated peptide.
up seq anno comments: Does not affect affinity for PtdIns(3,4,5)P3; when associated with Q-1209 and Q-1212.
up seq anno comments: Does not affect affinity for PtdIns(3,4,5)P3; when associated with Q-1209 and Q-1214.
up seq anno comments: Does not affect affinity for PtdIns(3,4,5)P3; when associated with Q-1212 and Q-1214.
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: Loss of tyrosine-protein phosphatase activity. Reduced IRS1 degradation under catabolic conditions. Abolishes inhibition of AKT1 kinase activity. Does not affect disruption of SQSTM1-IRS1 interaction by TNS2. Reduced mTORC1 complex activation.
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phorbol-ester/DAG-type
up seq anno comments: Phosphatase tensin-type
up seq anno comments: Phosphocysteine intermediate
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: SH2
up seq anno comments: Tensin-2
up seq anno feature ids: PRO_0000292987
up seq anno feature ids: VAR_033043
up seq anno feature ids: VAR_052547
up seq anno feature ids: VSP_026457
up seq anno feature ids: VSP_026458
up seq anno feature ids: VSP_026460
up seq anno feature ids: VSP_026461

9606:GTF3C3
gene id: 9606:GTF3C3
uniprot id: Q9Y5Q9
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 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: 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: General transcription factor 3C polypeptide 3
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylserine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno comments: TPR 1
up seq anno comments: TPR 10
up seq anno comments: TPR 11
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_0000106363
up seq anno feature ids: VAR_061902
up seq anno feature ids: VSP_010353
up seq anno feature ids: VSP_010354

9606:CDCA7L
gene id: 9606:CDCA7L
uniprot id: A0A024RA51
uniprot id: A8K8X5
uniprot id: Q96GN5
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: Secondary Structure
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: 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: 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: 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: zf-4CXXC_R1
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:DEPDC1B
gene id: 9606:DEPDC1B
uniprot id: Q8WUY9
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 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: DEP
up seq anno comments: DEP domain-containing protein 1B
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Rho-GAP
up seq anno feature ids: PRO_0000284790
up seq anno feature ids: VAR_031819
up seq anno feature ids: VAR_031820
up seq anno feature ids: VSP_042922

9606:DNM1L
gene id: 9606:DNM1L
uniprot id: B4DYR6
uniprot id: O00429
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: Secondary Structure
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: 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: Turn
up seq anno comments: Abolishes GTP hydrolysis.
up seq anno comments: Abolishes GTP hydrolysis. Impairs mitochondrial division. Reduces peroxisomal abundance.
up seq anno comments: Abolishes S-nitrosylation. Reduced dimerization and no enhancement of GTPase activity.
up seq anno comments: Abolishes homodimerization and formation of higher order oligomers.
up seq anno comments: Abolishes phosphorylation. Reduces interaction with MIEF1 and MIEF2. Promotes mitochondrial fission and cell vulnerability to apoptotic insults. Mostly mitochondrial. Disrupts, in vitro, binding to FIS1.
up seq anno comments: Basic residues
up seq anno comments: Decreased localization to the perinuclear region.
up seq anno comments: Diminishes intramolecular interaction between GTP-middle domain and GED domain but no effect on homooligomerization. Marked reduction in GTPase activity, in vitro. Decreased mitochondrial division.
up seq anno comments: Does not impair homodimerization and formation of higher order oligomers.
up seq anno comments: Dynamin-1-like protein
up seq anno comments: Dynamin-type G
up seq anno comments: GED
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: Impairs formation of higher order oligomers, but not homodimerization.
up seq anno comments: Impairs homodimerization and formation of higher order oligomers.
up seq anno comments: Impairs intramolecular interactions but not homooligomerization. Does not reduce interaction with MIEF1 and MIEF2. Impairs formation of higher order oligomers but not homodimerization. Unable to associate with MIEF2 into filaments forming the tubular structures that wrap around the scission site. Slight reduction in GTPase activity. Inhibits mitochondrial fission. Retained in the cytoplasm.
up seq anno comments: In EMPF1; autosomal recessive; impaired mitochondrial membrane fission; hypomorphic mutation retaining partial activity in mitochondrial membrane fission.
up seq anno comments: In EMPF1; impaired mitochondrial and peroxisomal membrane fission.
up seq anno comments: In EMPF1; the mutation acts in a dominant-negative manner; defects observed in both mitochondrial and peroxisomal fission; reduced oligomerization, decreased mitochondrial recruitment.
up seq anno comments: In EMPF1; the mutation acts in a dominant-negative manner; defects observed in mitochondrial fission; significant decrease in mitochondrial respiratory chain complex IV activity.
up seq anno comments: In EMPF1; the mutation acts in a dominant-negative manner; reduced oligomerization; decreased mitochondrial recruitment; defects observed in mitochondrial fission.
up seq anno comments: In EMPF1; unknown pathological significance; unable to associate with MIEF2 into filaments forming the tubular structures that wrap around the scission site; presence of concentric cristae and/or increased dense granules in some mitochondria.
up seq anno comments: In OPA5; changed localization to mitochondrion; impaired mitochondrial membrane fission.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3 and isoform 9.
up seq anno comments: In isoform 4 and isoform 8.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6, isoform 8 and isoform 9.
up seq anno comments: In isoform 7.
up seq anno comments: Loss of GTPase activity. Impairs mitochondrial division and induces changes in peroxisome morphology. No effect on oligomerization. Increase in sumoylation by SUMO3.
up seq anno comments: Loss of activity. Little effect on mitochondrial morphology. Translocated to mitochondria.
up seq anno comments: N-acetylmethionine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: No effect on S-nitrosylation.
up seq anno comments: O-linked (GlcNAc) threonine
up seq anno comments: Overexpression delays protein secretion. Rescues fragmented or truncated mitochondria in PRKN- or PINK1-depleted cells.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CAMK1 and PKA
up seq anno comments: Phosphoserine; by CDK1 and PINK1
up seq anno comments: Reduces peroxisomal abundance.
up seq anno comments: S-nitrosocysteine
up seq anno comments: Some loss of sumoylation in B domain. Complete loss of sumoylation in B domain; when associated with R-532; R-535 and R-558.
up seq anno comments: Some loss of sumoylation in B domain. Complete loss of sumoylation in B domain; when associated with R-532; R-535 and R-568.
up seq anno comments: Some loss of sumoylation in B domain. Complete loss of sumoylation in B domain; when associated with R-532; R-558 and R-568.
up seq anno comments: Some loss of sumoylation in B domain. Complete loss of sumoylation in B domain; when associated with R-535; R-558 and R-568.
up seq anno comments: Some loss of sumoylation in the GED domain; Complete loss of sumoylation in the GED domain; when associated with R-594; R-597 and R-606.
up seq anno comments: Some loss of sumoylation in the GED domain; Complete loss of sumoylation in the GED domain; when associated with R-594; R-597 and R-608.
up seq anno comments: Some loss of sumoylation in the GED domain; Complete loss of sumoylation in the GED domain; when associated with R-594; R-606 and R-608.
up seq anno comments: Some loss of sumoylation in the GED domain; Complete loss of sumoylation in the GED domain; when associated with R-597; R-606 and R-608.
up seq anno comments: Temperature-sensitive. Impairs mitochondrial division.
up seq anno comments: Unable to homooligomerize. Unable to associate with MIEF2 into filaments forming the tubular structures that wrap around the scission site.
up seq anno feature ids: PRO_0000206566
up seq anno feature ids: VAR_022446
up seq anno feature ids: VAR_030489
up seq anno feature ids: VAR_063704

9606:OR1I1
gene id: 9606:OR1I1
uniprot id: O60431
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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 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: Olfactory receptor 1I1
up seq anno feature ids: PRO_0000150437
up seq anno feature ids: VAR_034164
up seq anno feature ids: VAR_034165
up seq anno feature ids: VAR_034166
up seq anno feature ids: VAR_034167
up seq anno feature ids: VAR_062009
up seq anno feature ids: VAR_080450
up seq anno feature ids: VAR_080451

9606:COQ8A
gene id: 9606:COQ8A
uniprot id: Q8NI60
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: 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: 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: Transit Peptide
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: AAAS motif
up seq anno comments: Abolishes binding ADP or ATP.
up seq anno comments: Atypical kinase COQ8A, mitochondrial
up seq anno comments: Does not affect selectivity for binding ADP or ATP.
up seq anno comments: Does not affect selectivity for binding ADP or ATP. Impaired multi-subunit COQ enzyme complex.
up seq anno comments: Does not impair homodimerization.
up seq anno comments: Enables autophosphorylation but inhibits coenzyme Q biosynthesis in vivo.
up seq anno comments: Helical
up seq anno comments: Impaired binding ADP or ATP.
up seq anno comments: Impaired homodimerization.
up seq anno comments: In COQ10D4.
up seq anno comments: In COQ10D4; decreased stability.
up seq anno comments: In COQ10D4; 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: KxGQ motif
up seq anno comments: Mitochondrion
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Slightly affects selectivity for binding ADP or ATP.
up seq anno comments: Slightly impaired homodimerization.
up seq anno comments: Strongly impairs binding ADP or ATP. Impaired multi-subunit COQ enzyme complex.
up seq anno comments: Strongly impairs homodimerization.
up seq anno feature ids: PRO_0000000262
up seq anno feature ids: VAR_020319
up seq anno feature ids: VAR_044402
up seq anno feature ids: VAR_044403
up seq anno feature ids: VAR_044404
up seq anno feature ids: VAR_044405
up seq anno feature ids: VAR_044406
up seq anno feature ids: VAR_044407
up seq anno feature ids: VAR_044408
up seq anno feature ids: VAR_045576
up seq anno feature ids: VAR_072622
up seq anno feature ids: VAR_072623
up seq anno feature ids: VAR_072624
up seq anno feature ids: VAR_072625
up seq anno feature ids: VAR_072626
up seq anno feature ids: VAR_072627
up seq anno feature ids: VAR_076860
up seq anno feature ids: VSP_022351
up seq anno feature ids: VSP_022352
up seq anno feature ids: VSP_022353

9606:INPP5A
gene id: 9606:INPP5A
uniprot id: Q14642
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 labels: Chain
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: Sequence Variant
up seq anno comments: Inositol polyphosphate-5-phosphatase A
up seq anno comments: Loss of membrane localization. No loss of enzyme activity.
up seq anno comments: Loss of prenylation and membrane localization. No loss of enzyme activity.
up seq anno comments: Removed in mature form
up seq anno comments: S-farnesyl cysteine
up seq anno feature ids: PRO_0000209719
up seq anno feature ids: PRO_0000396780
up seq anno feature ids: VAR_034006

9606:CT47A12
gene id: 9606:CT47A12
uniprot id: Q5JQC4
up seq anno parent labels: Experimental Information
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: Sequence Conflict
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Cancer/testis antigen 47A
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000284450

9606:SHLD2
gene id: 9606:SHLD2
uniprot id: Q86V20
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: Secondary Structure
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: Strand
up seq anno comments: Fails to interact with SHLD3 or MAD2L2.
up seq anno comments: In isoform 2.
up seq anno comments: Shieldin complex subunit 2
up seq anno feature ids: PRO_0000087161
up seq anno feature ids: VAR_053997
up seq anno feature ids: VAR_053998
up seq anno feature ids: VAR_053999
up seq anno feature ids: VSP_016165

9606:OR52W1
gene id: 9606:OR52W1
uniprot id: Q6IF63
up 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 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 52W1
up seq anno feature ids: PRO_0000150792
up seq anno feature ids: VAR_044514
up seq anno feature ids: VAR_044515
up seq anno feature ids: VAR_044516

9606:CDKL2
gene id: 9606:CDKL2
uniprot id: A0A140VJG1
uniprot id: B4DH08
uniprot id: J3KNE8
uniprot id: Q92772
up 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 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: 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: 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:PIP5K1C
gene id: 9606:PIP5K1C
uniprot id: O60331
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: Secondary Structure
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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Abolishes binding to TLN2. Affects localization to focal adhesions.
up seq anno comments: Asymmetric dimethylarginine; alternate
up seq anno comments: Basic and acidic residues
up seq anno comments: Does not affect binding to TLN2 and localization to focal adhesions.
up seq anno comments: In LCCS3; loss of 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: N6-acetyllysine
up seq anno comments: Omega-N-methylarginine; alternate
up seq anno comments: PIPK
up seq anno comments: Phosphatidylinositol 4-phosphate 5-kinase type-1 gamma
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CDK5, MAPK1 and CDK1
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine; by CSK
up seq anno comments: Phosphotyrosine; by EGFR
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000185462
up seq anno feature ids: VAR_036996
up seq anno feature ids: VSP_042078
up seq anno feature ids: VSP_042079
up seq anno feature ids: VSP_042080

9606:UNK
gene id: 9606:UNK
uniprot id: A0A024R8N4
uniprot id: Q9C0B0
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: 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: Zinc Finger
up seq anno comments: Basic residues
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: C3H1-type 5
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: RING finger protein unkempt homolog
up seq anno comments: RING-type; degenerate
up seq anno feature ids: PRO_0000213899

9606:SLF1
gene id: 9606:SLF1
uniprot id: I6L9F1
uniprot id: Q9BQI6
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 labels: Chain
up seq anno labels: Crosslink
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: ANK
up seq anno comments: ANK 1
up seq anno comments: ANK 2
up seq anno comments: ANK 3
up seq anno comments: BRCT 1
up seq anno comments: BRCT 2
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: SMC5-SMC6 complex localization factor protein 1
up seq anno feature ids: PRO_0000243906
up seq anno feature ids: VAR_059120
up seq anno feature ids: VSP_056914
up seq anno feature ids: VSP_056915

9606:ABL2
gene id: 9606:ABL2
uniprot id: P42684
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: Secondary Structure
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: Lipid Binding
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 labels: Strand
up seq anno labels: Turn
up seq anno comments: Basic and acidic residues
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 3 and isoform 10.
up seq anno comments: In isoform 4, isoform 5, isoform 7 and isoform 10.
up seq anno comments: In isoform 6, isoform 7 and isoform 8.
up seq anno comments: In isoform 8.
up seq anno comments: Kinase activation loop
up seq anno comments: N-myristoyl glycine
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 comments: Phosphotyrosine
up seq anno comments: Phosphotyrosine; by ABL1 and autocatalysis
up seq anno comments: Phosphotyrosine; by autocatalysis
up seq anno comments: Phosphotyrosine; by autocatalysis and SRC-type Tyr-kinases
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: SH2
up seq anno comments: SH3
up seq anno comments: Somatic mutation in a breast cancer sample.
up seq anno comments: Somatic mutation in a lung squamous cell carcinoma.
up seq anno comments: Tyrosine-protein kinase ABL2
up seq anno feature ids: PRO_0000088052
up seq anno feature ids: VAR_029232
up seq anno feature ids: VAR_029233
up seq anno feature ids: VAR_029234
up seq anno feature ids: VAR_029235
up seq anno feature ids: VAR_029236
up seq anno feature ids: VAR_055411
up seq anno feature ids: VAR_055412
up seq anno feature ids: VAR_055413
up seq anno feature ids: VAR_055414
up seq anno feature ids: VAR_082895
up seq anno feature ids: VSP_004961
up seq anno feature ids: VSP_017112
up seq anno feature ids: VSP_021308
up seq anno feature ids: VSP_041772
up seq anno feature ids: VSP_041773
up seq anno feature ids: VSP_041774

9606:CBL
gene id: 9606:CBL
uniprot id: P22681
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: Secondary Structure
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: 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 labels: Zinc Finger
up seq anno comments: Abolishes interaction with ZAP70 and EPHB1, but does not affect interaction with SLA. Reduces ubiquitination and therefore proteasomal degradation of SPRED2.
up seq anno comments: Abolishes interaction with ZAP70.
up seq anno comments: Cbl-PTB
up seq anno comments: E3 ubiquitin-protein ligase CBL
up seq anno comments: Found in patients with acute myeloid leukemia; unknown pathological significance.
up seq anno comments: Found in patients with acute myeloid leukemia; unknown pathological significance; loss of the ability to negatively regulate signaling pathways; promotes cell cycle progression; decreases apoptosis.
up seq anno comments: In NSLL.
up seq anno comments: In NSLL; dominant-negative; impairs CBL-mediated ubiquitination, internalization and degradation of the EGF receptor/EGFR; decreases the ability to negatively regulate EGFR signaling.
up seq anno comments: Loss of ubiquitin ligase activity.
up seq anno comments: No effect on tyrosine phosphorylation by INSR. Loss of phosphorylation by SRC. Inhibition of bone resorption. Abolishes interaction with PIK3R1.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Phosphotyrosine; by ABL1
up seq anno comments: Phosphotyrosine; by INSR
up seq anno comments: Phosphotyrosine; by SRC
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: RING-type
up seq anno comments: Strongly reduces tyrosine phosphorylation by INSR; when associated with F-371 and F-700.
up seq anno comments: Strongly reduces tyrosine phosphorylation by INSR; when associated with F-371 and F-774.
up seq anno comments: Strongly reduces tyrosine phosphorylation by INSR; when associated with F-700 and F-774.
up seq anno comments: UBA
up seq anno feature ids: PRO_0000055858
up seq anno feature ids: VAR_057211
up seq anno feature ids: VAR_057212
up seq anno feature ids: VAR_057213
up seq anno feature ids: VAR_064332
up seq anno feature ids: VAR_064333
up seq anno feature ids: VAR_064334
up seq anno feature ids: VAR_064335
up seq anno feature ids: VAR_071040
up seq anno feature ids: VAR_071041
up seq anno feature ids: VAR_071042
up seq anno feature ids: VAR_071043

9606:BRIP1
gene id: 9606:BRIP1
uniprot id: A0A804HL36
uniprot id: Q9BX63
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: 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Abolishes phosphorylation of S-990. Impairs the interaction with BRCA1.
up seq anno comments: Basic and acidic residues
up seq anno comments: DEAH box
up seq anno comments: Disrupts BRCA1-mediated double-strand break repair. Loss of ATPase and DNA helicase activities.
up seq anno comments: Disrupts the interaction with BRCA1.
up seq anno comments: Does not affect the interaction with BRCA1.
up seq anno comments: Fanconi anemia group J protein
up seq anno comments: Helicase ATP-binding
up seq anno comments: In BC; early onset; loss of ATPase and helicase activities.
up seq anno comments: In BC; early onset; reduces helicase efficiency on longer substrates.
up seq anno comments: In FANCJ.
up seq anno comments: In FANCJ; associated with C-647.
up seq anno comments: In FANCJ; associated with C-707.
up seq anno comments: In FANCJ; destabilizes iron-sulfur-binding and abolishes helicase activity.
up seq anno comments: In a patient with ovarian cancer; unknown pathological significance.
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: Polar residues
up seq anno feature ids: PRO_0000055173
up seq anno feature ids: VAR_020896
up seq anno feature ids: VAR_020897
up seq anno feature ids: VAR_020898
up seq anno feature ids: VAR_020899
up seq anno feature ids: VAR_020900
up seq anno feature ids: VAR_020901
up seq anno feature ids: VAR_020902
up seq anno feature ids: VAR_020903
up seq anno feature ids: VAR_020904
up seq anno feature ids: VAR_020905
up seq anno feature ids: VAR_020906
up seq anno feature ids: VAR_020907
up seq anno feature ids: VAR_023700
up seq anno feature ids: VAR_023701
up seq anno feature ids: VAR_023702
up seq anno feature ids: VAR_023703
up seq anno feature ids: VAR_023704
up seq anno feature ids: VAR_052192
up seq anno feature ids: VAR_052193
up seq anno feature ids: VSP_012540
up seq anno feature ids: VSP_012541

9606:LPCAT3
gene id: 9606:LPCAT3
uniprot id: Q6P1A2
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: Site
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Initiator Methionine
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 labels: Transmembrane
up seq anno comments: Di-lysine motif
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Lysophospholipid acyltransferase 5
up seq anno comments: N-acetylalanine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000233382
up seq anno feature ids: VAR_050027
up seq anno feature ids: VAR_050028
up seq anno feature ids: VSP_053680

9606:USP26
gene id: 9606:USP26
uniprot id: Q9BXU7
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: 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: Sequence Variant
up seq anno comments: Nucleophile
up seq anno comments: Polar residues
up seq anno comments: Proton acceptor
up seq anno comments: Results in increased AR signaling.
up seq anno comments: USP
up seq anno comments: Ubiquitin carboxyl-terminal hydrolase 26
up seq anno feature ids: PRO_0000080655
up seq anno feature ids: VAR_063413
up seq anno feature ids: VAR_063414
up seq anno feature ids: VAR_063415
up seq anno feature ids: VAR_063416
up seq anno feature ids: VAR_063417
up seq anno feature ids: VAR_063418

9606:RPL35
gene id: 9606:RPL35
uniprot id: P42766
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: 60S ribosomal protein L35
up seq anno comments: Basic and acidic residues
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In DBA19; unknown pathological significance.
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000130533
up seq anno feature ids: VAR_081936

9606:F2
gene id: 9606:F2
uniprot id: P00734
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: Secondary Structure
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: Glycosylation Site
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: 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: 4-carboxyglutamate
up seq anno comments: Activation peptide fragment 1
up seq anno comments: Activation peptide fragment 2
up seq anno comments: Charge relay system
up seq anno comments: Confirmed at protein level.
up seq anno comments: Gla
up seq anno comments: In FA2D; Barcelona/Madrid.
up seq anno comments: In FA2D; Himi-1.
up seq anno comments: In FA2D; Himi-2.
up seq anno comments: In FA2D; Padua-1.
up seq anno comments: In FA2D; Quick-1.
up seq anno comments: In FA2D; Quick-2.
up seq anno comments: In FA2D; Salakta/Frankfurt.
up seq anno comments: In FA2D; Shanghai.
up seq anno comments: In FA2D; Tokushima.
up seq anno comments: In FA2D; prothrombin type 3; variant confirmed at protein level.
up seq anno comments: Interchain (between light and heavy chains)
up seq anno comments: Kringle 1
up seq anno comments: Kringle 2
up seq anno comments: N-linked (GlcNAc...) (complex) asparagine
up seq anno comments: Peptidase S1
up seq anno comments: Prothrombin
up seq anno comments: Thrombin heavy chain
up seq anno comments: Thrombin light chain
up seq anno feature ids: PRO_0000028159
up seq anno feature ids: PRO_0000028160
up seq anno feature ids: PRO_0000028161
up seq anno feature ids: PRO_0000028162
up seq anno feature ids: PRO_0000028163
up seq anno feature ids: PRO_0000028164
up seq anno feature ids: VAR_006711
up seq anno feature ids: VAR_006712
up seq anno feature ids: VAR_006713
up seq anno feature ids: VAR_006714
up seq anno feature ids: VAR_006715
up seq anno feature ids: VAR_006716
up seq anno feature ids: VAR_006717
up seq anno feature ids: VAR_006718
up seq anno feature ids: VAR_006719
up seq anno feature ids: VAR_011781
up seq anno feature ids: VAR_011782
up seq anno feature ids: VAR_055232
up seq anno feature ids: VAR_068913

9606:SAP130
gene id: 9606:SAP130
uniprot id: A0A2R8YDB8
uniprot id: H7BXF5
uniprot id: Q96DP1
uniprot id: Q9H0E3
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 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: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Histone deacetylase complex subunit SAP130
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 2.
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: SAP130_C
up seq anno feature ids: PRO_0000283736
up seq anno feature ids: VSP_024355
up seq anno feature ids: VSP_024356

9606:PRR11
gene id: 9606:PRR11
uniprot id: D2SNZ4
uniprot id: Q96HE9
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Sequence Conflict
up seq anno comments: D-box
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:UBL4A
gene id: 9606:UBL4A
uniprot id: P11441
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 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: 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: 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:MUS81
gene id: 9606:MUS81
uniprot id: Q53ES5
uniprot id: Q96NY9
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: Secondary Structure
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 Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Crossover junction endonuclease MUS81
up seq anno comments: ERCC4
up seq anno comments: Loss of activity.
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000198858
up seq anno feature ids: VAR_021990
up seq anno feature ids: VAR_025340
up seq anno feature ids: VAR_025341
up seq anno feature ids: VAR_038521
up seq anno feature ids: VAR_038522
up seq anno feature ids: VAR_061988

9606:NLRP14
gene id: 9606:NLRP14
uniprot id: Q86W24
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: 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: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Turn
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: Increased tendency to form aggregates.
up seq anno comments: Increased thermal stability of the Pyrin domain.
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: NACHT
up seq anno comments: NACHT, LRR and PYD domains-containing protein 14
up seq anno comments: Pyrin
up seq anno feature ids: PRO_0000080901
up seq anno feature ids: VAR_024180
up seq anno feature ids: VAR_031932
up seq anno feature ids: VAR_031933
up seq anno feature ids: VAR_031934
up seq anno feature ids: VAR_031935
up seq anno feature ids: VAR_031936
up seq anno feature ids: VAR_031937
up seq anno feature ids: VAR_031938
up seq anno feature ids: VAR_031939
up seq anno feature ids: VAR_031940
up seq anno feature ids: VAR_031941
up seq anno feature ids: VAR_031942
up seq anno feature ids: VAR_031943
up seq anno feature ids: VAR_031944
up seq anno feature ids: VAR_036387
up seq anno feature ids: VAR_053622
up seq anno feature ids: VAR_053623

9606:ZNF16
gene id: 9606:ZNF16
uniprot id: P17020
up 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 labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Modified Residue
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 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 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: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: N6-acetyllysine
up seq anno comments: Zinc finger protein 16
up seq anno feature ids: PRO_0000047338
up seq anno feature ids: VAR_024193
up seq anno feature ids: VAR_024194

9606:SLC4A8
gene id: 9606:SLC4A8
uniprot id: Q2Y0W8
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: Secondary Structure
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: 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: 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: 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:A4GALT
gene id: 9606:A4GALT
uniprot id: A0A0S2Z5J1
uniprot id: Q9NPC4
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 labels: Chain
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: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: DXD motif
up seq anno comments: Gb3_synth
up seq anno comments: Helical
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In individuals with NOR polyagglutination syndrome; causes the synthesis of both Gal(alpha1-4)Gal and Gal(alpha1-4)GalNAc moieties.
up seq anno comments: In p individuals.
up seq anno comments: In p individuals; complete loss of activity.
up seq anno comments: In p individuals; partial loss of activity.
up seq anno comments: Lactosylceramide 4-alpha-galactosyltransferase
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000080578
up seq anno feature ids: VAR_014296
up seq anno feature ids: VAR_014297
up seq anno feature ids: VAR_017507
up seq anno feature ids: VAR_017508
up seq anno feature ids: VAR_017509
up seq anno feature ids: VAR_022320
up seq anno feature ids: VAR_080910

9606:ZNF490
gene id: 9606:ZNF490
uniprot id: Q9ULM2
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: 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
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 490
up seq anno feature ids: PRO_0000047613

9606:HSPB3
gene id: 9606:HSPB3
uniprot id: Q12988
uniprot id: Q6ICS9
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 labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Non-terminal Residue
up seq anno labels: Sequence Variant
up seq anno comments: Heat shock protein beta-3
up seq anno comments: In HMN2C.
up seq anno comments: SHSP
up seq anno comments: sHSP
up seq anno feature ids: PRO_0000125936
up seq anno feature ids: VAR_061271
up seq anno feature ids: VAR_063773

9606:GARIN1B
gene id: 9606:GARIN1B
uniprot id: A0A140VJJ3
uniprot id: B4DY15
uniprot id: Q96KD3
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: DUF3699
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:ALPL
gene id: 9606:ALPL
uniprot id: A0A024RAB4
uniprot id: P05186
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: 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: 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: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Abolished alkaline phosphatase activity.
up seq anno comments: Alkaline phosphatase
up seq anno comments: Alkaline phosphatase, tissue-nonspecific isozyme
up seq anno comments: GPI-anchor amidated serine
up seq anno comments: In HOPS and HPPC; moderate allele; normal alkaline phosphatase activity toward diphosphate and increased activity toward pyridoxal 5'-phosphate.
up seq anno comments: In HOPS and HPPC; severe allele; abolished alkaline phosphatase activity.
up seq anno comments: In HOPS and HPPI.
up seq anno comments: In HOPS.
up seq anno comments: In HOPS; 0.4% of alkaline phosphatase activity; severe allele; no effect on subcellular location; fails to assemble into dimeric structure; dominant negative effect.
up seq anno comments: In HOPS; 1% of activity.
up seq anno comments: In HOPS; 1.3% of wild-type activity.
up seq anno comments: In HOPS; 15% of activity.
up seq anno comments: In HOPS; 16% alkaline of phosphatase activity.
up seq anno comments: In HOPS; 2% of activity.
up seq anno comments: In HOPS; 30% of alkaline phosphatase activity.
up seq anno comments: In HOPS; 4% of activity.
up seq anno comments: In HOPS; 4% of wild-type activity.
up seq anno comments: In HOPS; 6.8% of wild-type activity.
up seq anno comments: In HOPS; 8.5% of wild-type activity.
up seq anno comments: In HOPS; 9% of activity.
up seq anno comments: In HOPS; abolished alkaline phosphatase activity.
up seq anno comments: In HOPS; absence of residual enzymatic activity.
up seq anno comments: In HOPS; dominant-negative mutant; abolished alkaline phosphatase activity.
up seq anno comments: In HOPS; in a patient carrying also K-291.
up seq anno comments: In HOPS; lethal form; benign variant.
up seq anno comments: In HOPS; loss of activity.
up seq anno comments: In HOPS; loss of alkaline phosphatase activity.
up seq anno comments: In HOPS; moderate; 27% of activity.
up seq anno comments: In HOPS; moderate; 33% of activity.
up seq anno comments: In HOPS; moderate; 4-10% of alkaline phosphatase activity.
up seq anno comments: In HOPS; moderate; 8% of activity.
up seq anno comments: In HOPS; moderate; frequent mutation in European countries; slightly reduced alkaline phosphatase activity.
up seq anno comments: In HOPS; odonto.
up seq anno comments: In HOPS; odonto; abolished alkaline phosphatase activity.
up seq anno comments: In HOPS; odonto; partial loss of activity.
up seq anno comments: In HOPS; odonto; slightly reduced alkaline phosphatase activity.
up seq anno comments: In HOPS; partial loss of activity.
up seq anno comments: In HOPS; reduced alkaline phosphatase activity toward diphosphate and pyridoxal 5'-phosphate.
up seq anno comments: In HOPS; reduced alkaline phosphatase toward diphosphate and pyridoxal 5'-phosphate.
up seq anno comments: In HOPS; reduces alkaline phosphatase activity.
up seq anno comments: In HOPS; requires 2 nucleotide substitutions.
up seq anno comments: In HOPS; severe; 1% of activity.
up seq anno comments: In HOPS; severe; 2% of activity.
up seq anno comments: In HOPS; severe; 3.5% of activity.
up seq anno comments: In HOPS; severe; 4% of activity.
up seq anno comments: In HOPS; strongly reduced alkaline phosphatase activity.
up seq anno comments: In HOPS; unknown pathological significance.
up seq anno comments: In HOPS; very low alkaline phosphatase activity; does not affect subcellular location.
up seq anno comments: In HOPS; very low alkaline phosphatase activity; does not affect subcellular location; fails to assemble into dimeric structure.
up seq anno comments: In HOPS; weak alkaline phosphatase activity.
up seq anno comments: In HOPS; weak alkaline phosphatase activity; severely affects homodimerization; reduced cell surface expression.
up seq anno comments: In HPPC and HOPS; severe allele; loss of alkaline phosphatase activity.
up seq anno comments: In HPPC; severe allele.
up seq anno comments: In HPPI and HOPS; strongly reduced alkaline phosphatase activity.
up seq anno comments: In HPPI.
up seq anno comments: In HPPI; 7% of activity.
up seq anno comments: In HPPI; does not affect alkaline phosphatase activity.
up seq anno comments: In HPPI; partial loss of activity.
up seq anno comments: In isoform 2.

9606:CHKB
gene id: 9606:CHKB
uniprot id: Q9Y259
up 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: 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 Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Choline/ethanolamine kinase
up seq anno comments: In MDCMC.
up seq anno comments: In MDCMC; decreased choline kinase activity.
up seq anno comments: In MDCMC; loss of choline kinase activity; decreased amount of phosphatidylcholine in patients cells.
up seq anno comments: In MDCMC; severely decreased choline kinase activity.
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylalanine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000206222
up seq anno feature ids: VAR_081791
up seq anno feature ids: VAR_081792
up seq anno feature ids: VAR_081793
up seq anno feature ids: VAR_081794
up seq anno feature ids: VAR_081795
up seq anno feature ids: VAR_081796
up seq anno feature ids: VAR_081797
up seq anno feature ids: VAR_081798
up seq anno feature ids: VAR_081799
up seq anno feature ids: VAR_081800
up seq anno feature ids: VAR_081801
up seq anno feature ids: VSP_034248
up seq anno feature ids: VSP_034249

9606:FLVCR1
gene id: 9606:FLVCR1
uniprot id: B2RB38
uniprot id: Q9Y5Y0
up 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 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: 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: Feline leukemia virus subgroup C receptor-related protein 1
up seq anno comments: Helical
up seq anno comments: In PCARP.
up seq anno comments: In PCARP; also found in a patient with sensory neuropathy and pain insensitivity.
up seq anno comments: In isoform 2.
up seq anno comments: MFS
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Probable disease-associated variant found in a patient with sensory neuropathy and pain insensitivity.
up seq anno feature ids: PRO_0000084844
up seq anno feature ids: VAR_050297
up seq anno feature ids: VAR_050298
up seq anno feature ids: VAR_065158
up seq anno feature ids: VAR_065159
up seq anno feature ids: VAR_065160
up seq anno feature ids: VAR_065161
up seq anno feature ids: VAR_077884
up seq anno feature ids: VSP_047866

9606:TBL1X
gene id: 9606:TBL1X
uniprot id: A0A024RBV9
uniprot id: O60907
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: Secondary Structure
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: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Abolished homotetramerization, leading to a homodimer.
up seq anno comments: Does not affect interaction with NCOR2 and GPS2.
up seq anno comments: F-box-like
up seq anno comments: F-box-like/WD repeat-containing protein TBL1X
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In CHNG8.
up seq anno comments: In CHNG8; unknown pathological significance.
up seq anno comments: In CHNG8; unknown pathological significance; decreased protein expression.
up seq anno comments: In CHNG8; unknown pathological significance; no effect on protein expression.
up seq anno comments: In isoform 2.
up seq anno comments: LisH
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Reduced interaction with NCOR2 and GPS2.
up seq anno comments: Reduced interaction with NCOR2 and GPS2. Abolished ability to repress transcription.
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_0000051263
up seq anno feature ids: VAR_083285
up seq anno feature ids: VAR_083286
up seq anno feature ids: VAR_083287
up seq anno feature ids: VAR_083288
up seq anno feature ids: VAR_083289
up seq anno feature ids: VAR_083290
up seq anno feature ids: VSP_036905

9606:PRPS1
gene id: 9606:PRPS1
uniprot id: P60891
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: Secondary Structure
up seq anno parent labels: 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: 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: In ARTS.
up seq anno comments: In CMTX5.
up seq anno comments: In DFNX1.
up seq anno comments: In PRPS1 superactivity; no effect on Km; resistant to inhibition by ADP and GDP.
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: No effect on catalytic activity.
up seq anno comments: Probable disease-associated variant found in a patient with an intermediate phenotype between ARTS and PRPS1 superactivity; normal PRPP synthetase activity in fibroblasts; loss of activity in erythrocytes.
up seq anno comments: Probable disease-associated variant found in patients with phosphoribosyl pyrophosphate synthetase I deficiency.
up seq anno comments: Reduces catalytic activity.
up seq anno comments: Removed
up seq anno comments: Ribose-phosphate pyrophosphokinase 1
up seq anno feature ids: PRO_0000141071
up seq anno feature ids: VAR_004163
up seq anno feature ids: VAR_004164
up seq anno feature ids: VAR_016044
up seq anno feature ids: VAR_016045
up seq anno feature ids: VAR_016046
up seq anno feature ids: VAR_016047
up seq anno feature ids: VAR_036593
up seq anno feature ids: VAR_036594
up seq anno feature ids: VAR_036595
up seq anno feature ids: VAR_036941
up seq anno feature ids: VAR_036942
up seq anno feature ids: VAR_036943
up seq anno feature ids: VAR_036944
up seq anno feature ids: VAR_063522
up seq anno feature ids: VAR_063523
up seq anno feature ids: VAR_063524
up seq anno feature ids: VAR_063525
up seq anno feature ids: VAR_072719
up seq anno feature ids: VAR_078489
up seq anno feature ids: VSP_056028

9606:FAT1
gene id: 9606:FAT1
uniprot id: Q14517
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 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: 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 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 28
up seq anno comments: Cadherin 29
up seq anno comments: Cadherin 3
up seq anno comments: Cadherin 30
up seq anno comments: Cadherin 31
up seq anno comments: Cadherin 32
up seq anno comments: Cadherin 33
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: 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; calcium-binding
up seq anno comments: Extracellular
up seq anno comments: Found in a patient with spinocerebellar ataxia; unknown pathological significance.
up seq anno comments: Helical
up seq anno comments: Laminin G-like
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Nuclear localization signal
up seq anno comments: PTB-like motif
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Protocadherin Fat 1
up seq anno comments: Protocadherin Fat 1, nuclear form
up seq anno feature ids: PRO_0000004017
up seq anno feature ids: PRO_0000408559
up seq anno feature ids: VAR_055590
up seq anno feature ids: VAR_055591
up seq anno feature ids: VAR_055592
up seq anno feature ids: VAR_055593
up seq anno feature ids: VAR_055594
up seq anno feature ids: VAR_076441
up seq anno feature ids: VAR_076442
up seq anno feature ids: VAR_076443
up seq anno feature ids: VAR_080732
up seq anno feature ids: VAR_080733

9606:SP8
gene id: 9606:SP8
uniprot id: A8K350
uniprot id: Q8IXZ3
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Motif
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: 9aaTAD
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: In isoform 1.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 4.
up seq anno comments: Polar residues
up seq anno comments: Transcription factor Sp8
up seq anno feature ids: PRO_0000047152
up seq anno feature ids: VSP_007441
up seq anno feature ids: VSP_011036
up seq anno feature ids: VSP_044094

9606:COL4A3
gene id: 9606:COL4A3
uniprot id: Q01955
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: Secondary Structure
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: 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 comments: Cell attachment site
up seq anno comments: Collagen IV NC1
up seq anno comments: Collagen alpha-3(IV) chain
up seq anno comments: In ATS2.
up seq anno comments: In ATS2; in isolated microhematuria at heterozygosity.
up seq anno comments: In ATS2; unknown pathological significance.
up seq anno comments: In ATS3; in isolated microhematuria at heterozygosity.
up seq anno comments: In BFH.
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: Or C-1460 with C-1548
up seq anno comments: Or C-1493 with C-1551
up seq anno comments: Or C-1570 with C-1662
up seq anno comments: Or C-1604 with C-1665
up seq anno comments: Pro residues
up seq anno comments: S-Lysyl-methionine sulfilimine (Lys-Met) (interchain with M-1533)
up seq anno comments: S-Lysyl-methionine sulfilimine (Met-Lys) (interchain with K-1651)
up seq anno comments: Tumstatin
up seq anno feature ids: PRO_0000005844
up seq anno feature ids: PRO_0000279684
up seq anno feature ids: VAR_001908
up seq anno feature ids: VAR_001909
up seq anno feature ids: VAR_011202
up seq anno feature ids: VAR_011203
up seq anno feature ids: VAR_011204
up seq anno feature ids: VAR_011205
up seq anno feature ids: VAR_011206
up seq anno feature ids: VAR_011207
up seq anno feature ids: VAR_011208
up seq anno feature ids: VAR_011209
up seq anno feature ids: VAR_011210
up seq anno feature ids: VAR_011211
up seq anno feature ids: VAR_011212
up seq anno feature ids: VAR_011213
up seq anno feature ids: VAR_011214
up seq anno feature ids: VAR_011215
up seq anno feature ids: VAR_011216
up seq anno feature ids: VAR_011217
up seq anno feature ids: VAR_011218
up seq anno feature ids: VAR_011219
up seq anno feature ids: VAR_030944
up seq anno feature ids: VAR_030945
up seq anno feature ids: VAR_030946
up seq anno feature ids: VAR_030947
up seq anno feature ids: VAR_030948
up seq anno feature ids: VAR_030949
up seq anno feature ids: VAR_030950
up seq anno feature ids: VAR_061118
up seq anno feature ids: VAR_080826
up seq anno feature ids: VSP_001170
up seq anno feature ids: VSP_001171
up seq anno feature ids: VSP_023498
up seq anno feature ids: VSP_023499
up seq anno feature ids: VSP_023500

9606:CTRB1
gene id: 9606:CTRB1
uniprot id: P17538
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: 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: 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: Chymotrypsin B chain A
up seq anno comments: Chymotrypsin B chain B
up seq anno comments: Chymotrypsin B chain C
up seq anno comments: Chymotrypsinogen B
up seq anno comments: Peptidase S1
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000027638
up seq anno feature ids: PRO_0000027639
up seq anno feature ids: PRO_0000027640
up seq anno feature ids: PRO_0000027641
up seq anno feature ids: VAR_014566
up seq anno feature ids: VAR_057158

9606:METTL16
gene id: 9606:METTL16
uniprot id: B7Z3X7
uniprot id: Q86W50
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: Secondary Structure
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: 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: Abolished methyltransferase activity in vitro.
up seq anno comments: Abolished methyltransferase activity.
up seq anno comments: Abolishes methyltransferase activity.
up seq anno comments: Does not affect methyltransferase activity.
up seq anno comments: Does not affect methyltransferase activity; when associated with A-26.
up seq anno comments: Does not affect methyltransferase activity; when associated with A-31.
up seq anno comments: Found in patients with large intestine cancer; abolished methyltransferase activity.
up seq anno comments: In isoform 2.
up seq anno comments: Increased methyltransferase activity in vitro.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: RNA N6-adenosine-methyltransferase METTL16
up seq anno comments: Reduced methyltransferase activity.
up seq anno feature ids: PRO_0000310767
up seq anno feature ids: VAR_037086
up seq anno feature ids: VAR_081134
up seq anno feature ids: VSP_029340
up seq anno feature ids: VSP_029341

9606:AGAP2
gene id: 9606:AGAP2
uniprot id: A0A024RB55
uniprot id: F8VVT9
uniprot id: Q99490
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: Secondary Structure
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: Helix
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 labels: Zinc Finger
up seq anno comments: ANK
up seq anno comments: ANK 1
up seq anno comments: ANK 2
up seq anno comments: Arf-GAP
up seq anno comments: Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2
up seq anno comments: Basic and acidic residues
up seq anno comments: C4-type
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In a glioblastoma cell line.
up seq anno comments: In a neuroblastoma cell line.
up seq anno comments: In a sarcoma cell line.
up seq anno comments: In isoform 2.
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 feature ids: PRO_0000074217
up seq anno feature ids: VAR_022046
up seq anno feature ids: VAR_026438
up seq anno feature ids: VAR_026439
up seq anno feature ids: VAR_026440
up seq anno feature ids: VAR_026441
up seq anno feature ids: VAR_026442
up seq anno feature ids: VAR_026443
up seq anno feature ids: VAR_026444
up seq anno feature ids: VAR_026445
up seq anno feature ids: VAR_036183
up seq anno feature ids: VAR_036184
up seq anno feature ids: VAR_055532
up seq anno feature ids: VSP_018531
up seq anno feature ids: VSP_018532
up seq anno feature ids: VSP_018533

9606:PRSS35
gene id: 9606:PRSS35
uniprot id: Q8N3Z0
up 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 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: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Inactive serine protease 35
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Peptidase S1
up seq anno feature ids: PRO_0000299358
up seq anno feature ids: VAR_034810

9606:FREM3
gene id: 9606:FREM3
uniprot id: P0C091
up 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 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:PHF21A
gene id: 9606:PHF21A
uniprot id: Q96BD5
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: Secondary Structure
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: 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 labels: Zinc Finger
up seq anno comments: A.T hook
up seq anno comments: Basic and acidic residues
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In IDDBCS.
up seq anno comments: In IDDBCS; unknown pathological significance.
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 2.
up seq anno comments: PHD finger protein 21A
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_0000226767
up seq anno feature ids: VAR_025515
up seq anno feature ids: VAR_083199
up seq anno feature ids: VAR_083200
up seq anno feature ids: VSP_017448
up seq anno feature ids: VSP_017449

9606:TRIM34
gene id: 9606:TRIM34
uniprot id: Q9BYJ4
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: 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: 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: B box-type
up seq anno comments: B30.2/SPRY
up seq anno comments: E3 ubiquitin-protein ligase TRIM34
up seq anno comments: In isoform 2.
up seq anno comments: RING-type
up seq anno comments: Reduced association with TRIM5.
up seq anno feature ids: PRO_0000056248
up seq anno feature ids: VAR_019825
up seq anno feature ids: VAR_019826
up seq anno feature ids: VAR_052141
up seq anno feature ids: VSP_011921
up seq anno feature ids: VSP_011922

9606:LILRB4
gene id: 9606:LILRB4
uniprot id: A0A0A0MSZ8
uniprot id: A0A8Q3SHR1
uniprot id: Q8NHJ6
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: Secondary Structure
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: 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 comments: Basic and acidic residues
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: 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 isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Leukocyte immunoglobulin-like receptor subfamily B member 4
up seq anno comments: No significant change in APOE-mediated activation of LILRB4.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Significant reduction in APOE-mediated activation of LILRB4.
up seq anno feature ids: PRO_0000014823
up seq anno feature ids: PRO_5001974217
up seq anno feature ids: PRO_5035886238
up seq anno feature ids: VAR_017014
up seq anno feature ids: VAR_017015
up seq anno feature ids: VAR_025501
up seq anno feature ids: VAR_025502
up seq anno feature ids: VAR_025503
up seq anno feature ids: VAR_025504
up seq anno feature ids: VAR_025505
up seq anno feature ids: VAR_030939
up seq anno feature ids: VAR_047846
up seq anno feature ids: VSP_008460
up seq anno feature ids: VSP_035939

9606:SLC22A4
gene id: 9606:SLC22A4
uniprot id: Q9H015
up 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: Site
up seq anno labels: Binding Site
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: Abrogates TEA transport activity.
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: N-linked (GlcNAc...) asparagine
up seq anno comments: Reduces the ability to transport carnitine.
up seq anno comments: Solute carrier family 22 member 4
up seq anno feature ids: PRO_0000220497
up seq anno feature ids: VAR_019528
up seq anno feature ids: VAR_019529
up seq anno feature ids: VAR_019530

9606:BCL10
gene id: 9606:BCL10
uniprot id: A0A087WWW9
uniprot id: A2TDT2
uniprot id: O95999
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: Secondary Structure
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: Sequence Variant
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: 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: 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
up seq anno feature ids: VAR_077898

9606:BEX2
gene id: 9606:BEX2
uniprot id: Q9BXY8
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Protein BEX2
up seq anno feature ids: PRO_0000229777
up seq anno feature ids: VSP_046808

9606:SLC9A9
gene id: 9606:SLC9A9
uniprot id: Q8IVB4
up 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 labels: Chain
up seq anno labels: Glycosylation Site
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: Sodium/hydrogen exchanger 9
up seq anno feature ids: PRO_0000052367
up seq anno feature ids: VAR_022114
up seq anno feature ids: VAR_050232

9606:SLC30A7
gene id: 9606:SLC30A7
uniprot id: Q8NEW0
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
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: Zinc transporter 7
up seq anno feature ids: PRO_0000314299

9606:LENEP
gene id: 9606:LENEP
uniprot id: Q9Y5L5
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno comments: Lens epithelial cell protein LEP503
up seq anno feature ids: PRO_0000084403

9606:NBPF14
gene id: 9606:NBPF14
uniprot id: A0A087WZJ2
up seq anno parent labels: Region
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Olduvai

9606:GOLGA8R
gene id: 9606:GOLGA8R
uniprot id: I6L899
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Golgin subfamily A member 8R
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000420862
up seq anno feature ids: VSP_044756
up seq anno feature ids: VSP_044757
up seq anno feature ids: VSP_044758

9606:SLC26A11
gene id: 9606:SLC26A11
uniprot id: Q86WA9
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 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: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: STAS
up seq anno comments: Sodium-independent sulfate anion transporter
up seq anno feature ids: PRO_0000320686
up seq anno feature ids: VAR_068239

9606:GINS3
gene id: 9606:GINS3
uniprot id: A0A0S2Z5L0
uniprot id: A0A0S2Z5L4
uniprot id: A0A0S2Z5P2
uniprot id: Q9BRX5
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 labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Mass
up seq anno labels: Non-terminal Residue
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: DNA replication complex GINS protein PSF3
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Sld5
up seq anno comments: This is the measured mass for the GINS complex.
up seq anno feature ids: PRO_0000327615
up seq anno feature ids: VSP_032737
up seq anno feature ids: VSP_046694

9606:TMEM82
gene id: 9606:TMEM82
uniprot id: A0PJX8
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 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: Transmembrane protein 82
up seq anno feature ids: PRO_0000309236
up seq anno feature ids: VAR_036917

9606:NOTO
gene id: 9606:NOTO
uniprot id: A8MTQ0
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Sequence Variant
up seq anno comments: Homeobox
up seq anno comments: Homeobox protein notochord
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000343223
up seq anno feature ids: VAR_059353
up seq anno feature ids: VAR_059354

9606:GPR174
gene id: 9606:GPR174
uniprot id: Q9BXC1
up 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 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: Probable G-protein coupled receptor 174
up seq anno feature ids: PRO_0000069654
up seq anno feature ids: VAR_049409

9606:POMC
gene id: 9606:POMC
uniprot id: P01189
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: Secondary Structure
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
up seq anno labels: Peptide
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: 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:ACKR3
gene id: 9606:ACKR3
uniprot id: P25106
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 labels: Chain
up seq anno labels: Disulfide Bond
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: Atypical chemokine receptor 3
up seq anno comments: Cytoplasmic
up seq anno comments: Does not result in CXCL12-inducible chemotaxis, calcium mobilization or ERK activation, and has no effect on CXCR7-mediated CXCL12 degradation; when associated with A-145.
up seq anno comments: Does not result in CXCL12-inducible chemotaxis, calcium mobilization or ERK activation, and has no effect on CXCR7-mediated CXCL12 degradation; when associated with V-147.
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 OCABSN; no effect on protein levels and cell membrane location; lower binding affinity for CXCL12.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000070101
up seq anno feature ids: VAR_027477
up seq anno feature ids: VAR_085335

9606:CCNK
gene id: 9606:CCNK
uniprot id: A0A024R6K1
uniprot id: O75909
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: Secondary Structure
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: 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: CYCLIN
up seq anno comments: Cyclin-K
up seq anno comments: Cyclin_C
up seq anno comments: In IDDHDF; contrary to the wild-type protein, does not rescue morpholino knockdown phenotype 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: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000080478
up seq anno feature ids: VAR_081570
up seq anno feature ids: VSP_010830
up seq anno feature ids: VSP_035970
up seq anno feature ids: VSP_035971
up seq anno feature ids: VSP_035972
up seq anno feature ids: VSP_035973

9606:SYNDIG1
gene id: 9606:SYNDIG1
uniprot id: Q9H7V2
up 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 labels: Chain
up seq anno labels: INTRAMEM
up seq anno labels: Modified 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: Helical
up seq anno comments: Phosphoserine
up seq anno comments: Synapse differentiation-inducing gene protein 1
up seq anno feature ids: PRO_0000135696
up seq anno feature ids: VAR_053733

9606:GCA
gene id: 9606:GCA
uniprot id: B7Z322
uniprot id: H7BXD5
uniprot id: P28676
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: 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: Turn
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: Grancalcin
up seq anno feature ids: PRO_0000073721
up seq anno feature ids: VAR_048657

9606:ZNF547
gene id: 9606:ZNF547
uniprot id: Q8IVP9
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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 547
up seq anno feature ids: PRO_0000047644
up seq anno feature ids: VSP_016347
up seq anno feature ids: VSP_016348

9606:SPRTN
gene id: 9606:SPRTN
uniprot id: A0A024R3U2
uniprot id: Q9H040
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: Secondary Structure
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: 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: 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 ability to mediate autocleavage in presence of ssDNA.
up seq anno comments: Abolished ability to mediate autocleavage. Does not affect DNA-binding.
up seq anno comments: Abolished ability to mediate autocleavage. Strongly reduced DNA-binding.
up seq anno comments: Abolished acetylation, leading to impaired localization to chromatin.
up seq anno comments: Abolished interaction with PCNA.
up seq anno comments: Abolished metalloprotease activity and ability to cleave covalent DNA-protein cross-links (DPCs).
up seq anno comments: Abolished metalloprotease activity and ability to cleave covalent DNA-protein cross-links (DPCs). Abolished ability to cleave CHEK1 during physiological DNA replication.
up seq anno comments: Abolished metalloprotease activity and ability to mediate autocleavage. Slightly impaired ability to cleave covalent DNA-protein cross-links (DPCs).
up seq anno comments: Abolished metalloprotease activity, ability to cleave covalent DNA-protein cross-links (DPCs) and to mediate autocleavage.
up seq anno comments: Abolished phosphorylation by CHEK1; when associated with A-373 and A-374.
up seq anno comments: Abolished phosphorylation by CHEK1; when associated with A-373 and A-383.
up seq anno comments: Abolished phosphorylation by CHEK1; when associated with A-374 and A-383.
up seq anno comments: Abolishes binding to VCP/p97; when associated with A-253.
up seq anno comments: Abolishes binding to VCP/p97; when associated with A-260.
up seq anno comments: Abolishes binding to ubiquitin.
up seq anno comments: DNA-dependent metalloprotease SPRTN
up seq anno comments: Decreased interaction with PCNA.
up seq anno comments: Does not abolish monoubiquitination; when associated with R-341, R-376 and R-414.
up seq anno comments: Does not abolish monoubiquitination; when associated with R-341, R-376 and R-435.
up seq anno comments: Does not abolish monoubiquitination; when associated with R-341, R-414 and R-435.
up seq anno comments: Does not abolish monoubiquitination; when associated with R-376, R-414 and R-435.
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)
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
up seq anno comments: In RJALS; impaired metalloprotease activity and ability to cleave covalent DNA-protein cross-links (DPCs); cells are completely unable to restore DNA replication fork progression.
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: Increased ability to mediate autocleavage.
up seq anno comments: Mimics acetylation, promoting cleavage of covalent DNA-protein cross-links (DPCs).
up seq anno comments: N-acetylmethionine
up seq anno comments: N6-acetyllysine
up seq anno comments: Nuclear localization signal
up seq anno comments: PIP-box
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CHEK1
up seq anno comments: Polar residues
up seq anno comments: Promotes relocalization to the cytoplasm.
up seq anno comments: SHP-box
up seq anno comments: SprT-like
up seq anno comments: Strongly reduced ability to mediate autocleavage. Strongly reduced DNA-binding.
up seq anno comments: UBZ4-type
up seq anno feature ids: PRO_0000312748
up seq anno feature ids: VAR_037556
up seq anno feature ids: VAR_072708
up seq anno feature ids: VSP_029891
up seq anno feature ids: VSP_029892
up seq anno feature ids: VSP_046925

9606:HMGA2
gene id: 9606:HMGA2
uniprot id: F5H2A4
uniprot id: F5H6H0
uniprot id: P52926
uniprot id: Q1M183
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
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: A.T hook 1
up seq anno comments: A.T hook 2
up seq anno comments: A.T hook 3
up seq anno comments: High mobility group protein HMGI-C
up seq anno comments: In SRS5.
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-acetylserine
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_0000206711
up seq anno feature ids: VAR_084335
up seq anno feature ids: VSP_042564
up seq anno feature ids: VSP_047772
up seq anno feature ids: VSP_047773
up seq anno feature ids: VSP_047774
up seq anno feature ids: VSP_047775

9606:CRNKL1
gene id: 9606:CRNKL1
uniprot id: Q5JY65
uniprot id: Q69YP1
uniprot id: Q9BZJ0
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: Secondary Structure
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: Non-terminal 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: Crooked neck-like protein 1
up seq anno comments: HAT 1
up seq anno comments: HAT 10
up seq anno comments: HAT 11
up seq anno comments: HAT 12
up seq anno comments: HAT 13
up seq anno comments: HAT 14
up seq anno comments: HAT 15
up seq anno comments: HAT 16
up seq anno comments: HAT 17
up seq anno comments: HAT 2
up seq anno comments: HAT 3
up seq anno comments: HAT 4
up seq anno comments: HAT 5
up seq anno comments: HAT 6
up seq anno comments: HAT 7
up seq anno comments: HAT 8
up seq anno comments: HAT 9
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: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000205719
up seq anno feature ids: VAR_024995
up seq anno feature ids: VAR_049318
up seq anno feature ids: VAR_049319
up seq anno feature ids: VAR_049320
up seq anno feature ids: VAR_049321
up seq anno feature ids: VSP_002058
up seq anno feature ids: VSP_002059
up seq anno feature ids: VSP_002060
up seq anno feature ids: VSP_002061
up seq anno feature ids: VSP_002062

9606:GPR55
gene id: 9606:GPR55
uniprot id: A8K858
uniprot id: Q9Y2T6
up 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 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 receptor 55
up seq anno comments: G_PROTEIN_RECEP_F1_2
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 feature ids: PRO_0000069577
up seq anno feature ids: VAR_024257
up seq anno feature ids: VAR_049395

9606:RC3H2
gene id: 9606:RC3H2
uniprot id: A0A024R899
uniprot id: Q9HBD1
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: Secondary Structure
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: 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 labels: Zinc Finger
up seq anno comments: Abolishes binding to CDE RNA but not dsRNA.
up seq anno comments: C3H1-type
up seq anno comments: Decreases dsRNA-binding.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4 and isoform 6.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: Loss of activity. Loss of MAP3K5 ubiquitination.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: RING-type
up seq anno comments: RING-type; degenerate
up seq anno comments: Roquin-2
up seq anno feature ids: PRO_0000055968
up seq anno feature ids: VSP_015017
up seq anno feature ids: VSP_015018
up seq anno feature ids: VSP_015019
up seq anno feature ids: VSP_015020
up seq anno feature ids: VSP_015021
up seq anno feature ids: VSP_015022
up seq anno feature ids: VSP_015023
up seq anno feature ids: VSP_015024

9606:NCBP1
gene id: 9606:NCBP1
uniprot id: A0A024R179
uniprot id: Q09161
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 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: 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: Abolishes nuclear localization and phosphorylation by RPS6KB1.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: MIF4G
up seq anno comments: N6-acetyllysine
up seq anno comments: Nuclear cap-binding protein subunit 1
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by RPS6KB1
up seq anno comments: Phosphothreonine; by RPS6KB1
up seq anno comments: Reduced phosphorylation by RPS6KB1. Abolishes phosphorylation by RPS6KB1; when associated with 21-A-A-22.
up seq anno comments: Reduced phosphorylation by RPS6KB1. Abolishes phosphorylation by RPS6KB1; when associated with A-7.
up seq anno feature ids: PRO_0000089364

9606:KCNA2
gene id: 9606:KCNA2
uniprot id: P16389
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 labels: Chain
up seq anno labels: Glycosylation Site
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: 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=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: In DEE32; affects channel activity; mutant channels display voltage-dependent activation significantly shifted toward negative potentials compared to wild-type; no effect on channel sensitivity to 4-aminopyridine.
up seq anno comments: In DEE32; causes a gain of function.
up seq anno comments: In DEE32; dominant-negative mutation; loss of channel function.
up seq anno comments: In DEE32; loss of channel function.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: PDZ-binding
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Potassium voltage-gated channel subfamily A member 2
up seq anno comments: Probable disease-associated variant found in a patient with drug-resistant epilepsy.
up seq anno comments: S-palmitoyl cysteine
up seq anno comments: Selectivity filter
up seq anno feature ids: PRO_0000053972
up seq anno feature ids: VAR_073704
up seq anno feature ids: VAR_073705
up seq anno feature ids: VAR_073706
up seq anno feature ids: VAR_073707
up seq anno feature ids: VAR_078206
up seq anno feature ids: VAR_085682
up seq anno feature ids: VSP_043077

9606:UBR2
gene id: 9606:UBR2
uniprot id: B3KXG6
uniprot id: Q8IWV8
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: 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: Initiator Methionine
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 labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: E3 ubiquitin-protein ligase
up seq anno comments: E3 ubiquitin-protein ligase UBR2
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-acetylalanine
up seq anno comments: PRT6_C
up seq anno comments: Polar residues
up seq anno comments: RING-type; atypical
up seq anno comments: Removed
up seq anno comments: UBR-type
up seq anno feature ids: PRO_0000056140
up seq anno feature ids: PRO_5002788473
up seq anno feature ids: VAR_023283
up seq anno feature ids: VAR_052117
up seq anno feature ids: VAR_059816
up seq anno feature ids: VAR_059817
up seq anno feature ids: VSP_015166
up seq anno feature ids: VSP_015167
up seq anno feature ids: VSP_015168
up seq anno feature ids: VSP_015169
up seq anno feature ids: VSP_015170
up seq anno feature ids: VSP_015171
up seq anno feature ids: VSP_017130

9606:ADAM22
gene id: 9606:ADAM22
uniprot id: H7C3I4
uniprot id: Q08AL8
uniprot id: Q9P0K1
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: Secondary Structure
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: 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: Abolishes interactions with YWHAB and YWHAZ; when associated with A-834.
up seq anno comments: Abolishes interactions with YWHAB and YWHAZ; when associated with A-857.
up seq anno comments: Cytoplasmic
up seq anno comments: Disintegrin
up seq anno comments: Disintegrin and metalloproteinase domain-containing protein 22
up seq anno comments: EGF-like
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In DEE61; unknown pathological significance; loss of interaction with LGI1; no effect on DLG4-binding, nor on subcellular location.
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: 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_0000029112
up seq anno feature ids: PRO_0000029113
up seq anno feature ids: PRO_5014306701
up seq anno feature ids: PRO_5033014662
up seq anno feature ids: VAR_020057
up seq anno feature ids: VAR_051589
up seq anno feature ids: VAR_051590
up seq anno feature ids: VAR_080496
up seq anno feature ids: VSP_005482
up seq anno feature ids: VSP_005483
up seq anno feature ids: VSP_005484

9606:UBAC2
gene id: 9606:UBAC2
uniprot id: A0A024RE02
uniprot id: A8K2S7
uniprot id: Q8NBM4
up 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 labels: Chain
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: 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: UBA
up seq anno comments: Ubiquitin-associated domain-containing protein 2
up seq anno feature ids: PRO_0000280754
up seq anno feature ids: VSP_023909
up seq anno feature ids: VSP_023910
up seq anno feature ids: VSP_023911
up seq anno feature ids: VSP_023912
up seq anno feature ids: VSP_023913
up seq anno feature ids: VSP_023914

9606:CAMTA1
gene id: 9606:CAMTA1
uniprot id: Q9Y6Y1
up 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 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: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: ANK 1
up seq anno comments: ANK 2
up seq anno comments: ANK 3
up seq anno comments: Basic and acidic residues
up seq anno comments: CG-1
up seq anno comments: Calmodulin-binding transcription activator 1
up seq anno comments: Found in patients with late onset progressive myoclonus epilepsy; unknown pathological significance.
up seq anno comments: IPT/TIG
up seq anno comments: IQ 1
up seq anno comments: IQ 2
up seq anno comments: IQ 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: Nuclear localization signal
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000235820
up seq anno feature ids: VAR_047824
up seq anno feature ids: VAR_047825
up seq anno feature ids: VAR_047826
up seq anno feature ids: VAR_085043
up seq anno feature ids: VSP_035936
up seq anno feature ids: VSP_035937
up seq anno feature ids: VSP_043842
up seq anno feature ids: VSP_043843
up seq anno feature ids: VSP_046358
up seq anno feature ids: VSP_046359

9606:TSSK2
gene id: 9606:TSSK2
uniprot id: A0ZT99
uniprot id: Q96PF2
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: 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: May be associated with infertility.
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Testis-specific serine/threonine-protein kinase 2
up seq anno feature ids: PRO_0000086768
up seq anno feature ids: VAR_041241
up seq anno feature ids: VAR_041242
up seq anno feature ids: VAR_041243
up seq anno feature ids: VAR_041244
up seq anno feature ids: VAR_051677
up seq anno feature ids: VAR_059770

9606:PAX7
gene id: 9606:PAX7
uniprot id: P23759
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 labels: Chain
up seq anno labels: DNA Binding
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: Homeobox
up seq anno comments: In MYOSCO.
up seq anno comments: In MYOSCO; loss-of-function variant resulting in a reduced muscle stem cell pool; the protein is not detected in patient muscle.
up seq anno comments: In isoform 1 and isoform 2.
up seq anno comments: In isoform 2.
up seq anno comments: OAR
up seq anno comments: Paired
up seq anno comments: Paired box protein Pax-7
up seq anno feature ids: PRO_0000050194
up seq anno feature ids: VAR_083265
up seq anno feature ids: VAR_083266
up seq anno feature ids: VAR_083267
up seq anno feature ids: VSP_057678
up seq anno feature ids: VSP_057679

9606:LLGL1
gene id: 9606:LLGL1
uniprot id: Q15334
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Lethal(2) giant larvae protein homolog 1
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 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_0000232725
up seq anno feature ids: VAR_058710
up seq anno feature ids: VAR_058711

9606:ECM2
gene id: 9606:ECM2
uniprot id: O94769
up 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 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: 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: 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:ZNF343
gene id: 9606:ZNF343
uniprot id: A0A087WZQ2
uniprot id: Q6P1L6
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: 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 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: Polar residues
up seq anno comments: Zinc finger protein 343
up seq anno feature ids: PRO_0000047543
up seq anno feature ids: VAR_059912
up seq anno feature ids: VSP_016028
up seq anno feature ids: VSP_016029
up seq anno feature ids: VSP_016030

9606:AURKB
gene id: 9606:AURKB
uniprot id: Q96GD4
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: Secondary Structure
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: 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: Abolished acetylation by KAT5, leading to impaired chromosome segregation.
up seq anno comments: Aurora kinase B
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: Leads to loss of kinase activity and severely impairs mitotic progression.
up seq anno comments: Mimics acetylation, promoting accurate chromosome segregation.
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by autocatalysis
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000085656
up seq anno feature ids: VAR_027970
up seq anno feature ids: VAR_027971
up seq anno feature ids: VAR_040383
up seq anno feature ids: VAR_040384
up seq anno feature ids: VSP_044384
up seq anno feature ids: VSP_044385
up seq anno feature ids: VSP_044386
up seq anno feature ids: VSP_044387
up seq anno feature ids: VSP_047103

9606:JUP
gene id: 9606:JUP
uniprot id: A0A0S2Z487
uniprot id: P14923
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: Secondary Structure
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: Non-terminal Residue
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: 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 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: Abolishes glycosylation. Does not affect binding to CDH1, DSC1 or DSG1.
up seq anno comments: Does not affect glycosylation.
up seq anno comments: In ARVD12; affects the structure and distribution of mechanical and electrical cell junctions.
up seq anno comments: In ARVD12; unknown pathological significance.
up seq anno comments: Junction plakoglobin
up seq anno comments: N-acetylmethionine
up seq anno comments: O-linked (GlcNAc) threonine
up seq anno comments: Phosphoserine
up seq anno comments: Reduces glycosylation.
up seq anno feature ids: PRO_0000064278
up seq anno feature ids: VAR_037803
up seq anno feature ids: VAR_037804
up seq anno feature ids: VAR_065698
up seq anno feature ids: VAR_065699
up seq anno feature ids: VAR_065700

9606:DCUN1D1
gene id: 9606:DCUN1D1
uniprot id: B4DM76
uniprot id: C9JVE2
uniprot id: Q96GG9
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 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: DCN1-like protein 1
up seq anno comments: DCUN1
up seq anno comments: Loss of ability to stimulate cullin neddylation.
up seq anno comments: Loss of binding to CAND1 and CUL-RBX1 complex but retains binding to UBE2M.
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. Reduces cullin neddylation; when associated with A-211 and A-241. Loss of interaction with CUL1, CUL2, CUL3, CULA4 and CULA4; when associated with A-211 and A-241. Loss of CUL2 interaction; when associated with A-211 and A-241. Reduces neddylation on CUL2; when associated with A-211 and A-241. Reduces interaction with VHL and HIF1A; when associated with A-211 and A-241. Does not affect interaction with SOCS1; when associated with A-211 and A-241. Does not affect DCUN1D1 monoubiquitylation; 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 withA-211 and R-235. Reduces cullin neddylation; when associated with A-211 and R-235. Loss of interaction with CUL1, CUL2, CUL3, CULA4 and CULA4; when associated with A-211 and R-235. Loss of CUL2 interaction; when associated with A-211 and R-235. Reduces neddylation on CUL2; when associated with A-211 and R-235. Reduces interaction with VHL and HIF1A; when associated with A-211 and R-235. Does not affect interaction with SOCS1; when associated with A-211 and R-235. Does not affect DCUN1D1 monoubiquitylation; 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. Reduces cullin neddylation; when associated with R-235 and A-241. Loss of interaction with CUL1, CUL2, CUL3, CULA4 and CULA4; when associated with R-235 and A-241. Loss of CUL2 interaction; when associated with R-235 and A-241. Reduces neddylation on CUL2; when associated with R-235 and A-241. Reduces interaction with VHL and HIF1A; when associated with R-235 and A-241. Does not affect interaction with SOCS1; when associated with R-235 and A-241. Does not affect DCUN1D1 monoubiquitylation; when associated with R-235 and A-241.
up seq anno comments: Loss of ubiquitin binding; when associated with A-15, A-16 and A-44.
up seq anno comments: Loss of ubiquitin binding; when associated with A-15, A-16 and A-45.
up seq anno comments: Loss of ubiquitin binding; when associated with A-15, A-44 and A-45.
up seq anno comments: Loss of ubiquitin binding; when associated with A-16, A-44 and A-45.
up seq anno comments: N-acetylmethionine
up seq anno comments: UBA-like
up seq anno feature ids: PRO_0000129498

9606:RGS12
gene id: 9606:RGS12
uniprot id: O14924
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: Secondary Structure
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: 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: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: GoLoco
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, isoform 6 and isoform 7.
up seq anno comments: In isoform 6.
up seq anno comments: Omega-N-methylarginine
up seq anno comments: PDZ
up seq anno comments: PID
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: RBD 1
up seq anno comments: RBD 2
up seq anno comments: RGS
up seq anno comments: Regulator of G-protein signaling 12
up seq anno feature ids: PRO_0000204213
up seq anno feature ids: VAR_020208
up seq anno feature ids: VAR_034451
up seq anno feature ids: VAR_034452
up seq anno feature ids: VSP_005682
up seq anno feature ids: VSP_005683
up seq anno feature ids: VSP_005684
up seq anno feature ids: VSP_005685
up seq anno feature ids: VSP_005686
up seq anno feature ids: VSP_005687
up seq anno feature ids: VSP_047741
up seq anno feature ids: VSP_047742
up seq anno feature ids: VSP_047743
up seq anno feature ids: VSP_047744

9606:MS4A2
gene id: 9606:MS4A2
uniprot id: A0A0B4J2E9
uniprot id: Q01362
up 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 labels: Chain
up seq anno labels: Modified 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: Helical
up seq anno comments: High affinity immunoglobulin epsilon receptor subunit beta
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Risk factor for atopic dermatitis and asthma.
up seq anno feature ids: PRO_0000158629
up seq anno feature ids: VAR_003965
up seq anno feature ids: VAR_053515
up seq anno feature ids: VAR_053516

9606:ZNF432
gene id: 9606:ZNF432
uniprot id: A0A024R4I3
uniprot id: O94892
up 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 labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: 3'-nitrotyrosine
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 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 breast cancer sample; somatic mutation.
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 432
up seq anno feature ids: PRO_0000047580
up seq anno feature ids: VAR_035577
up seq anno feature ids: VAR_035578

9606:SMTNL1
gene id: 9606:SMTNL1
uniprot id: A8MU46
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: Coiled-Coil
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Calponin-homology (CH)
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Smoothelin-like protein 1
up seq anno feature ids: PRO_0000317275

9606:TBC1D13
gene id: 9606:TBC1D13
uniprot id: A0A024R8B1
uniprot id: A0A024R8C8
uniprot id: B3KNG3
uniprot id: B4DHM6
uniprot id: Q9NVG8
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 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:MED9
gene id: 9606:MED9
uniprot id: Q9NWA0
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 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 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:UBE2C
gene id: 9606:UBE2C
uniprot id: A0A0A0MSE8
uniprot id: O00762
uniprot id: Q5TZN3
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: Secondary Structure
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: 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: Glycyl thioester intermediate
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 function; inhibition of cyclin-B degradation.
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno comments: UBC core
up seq anno comments: Ubiquitin-conjugating enzyme E2 C
up seq anno feature ids: PRO_0000082560
up seq anno feature ids: VAR_007694
up seq anno feature ids: VSP_045647
up seq anno feature ids: VSP_045648
up seq anno feature ids: VSP_045649

9606:CT45A2
gene id: 9606:CT45A2
uniprot id: P0DMV1
uniprot id: P0DMV2
uniprot id: Q5DJT8
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
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:HSD17B13
gene id: 9606:HSD17B13
uniprot id: Q7Z5P4
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: 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: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: 17-beta-hydroxysteroid dehydrogenase 13
up seq anno comments: In isoform 1.
up seq anno comments: Phosphoserine
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000042583
up seq anno feature ids: VSP_015860

9606:GLP2R
gene id: 9606:GLP2R
uniprot id: A0A384MTS7
uniprot id: B2RAN4
uniprot id: O95838
up 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 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: 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: G_PROTEIN_RECEP_F2_3
up seq anno comments: G_PROTEIN_RECEP_F2_4
up seq anno comments: Glucagon-like peptide 2 receptor
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 feature ids: PRO_0000012838
up seq anno feature ids: VAR_033967
up seq anno feature ids: VAR_033968
up seq anno feature ids: VAR_033969

9606:CERS1
gene id: 9606:CERS1
uniprot id: B4DE47
uniprot id: P27544
uniprot id: Q5XG75
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 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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
up seq anno comments: Ceramide synthase 1
up seq anno comments: Helical
up seq anno comments: In EPM8.
up seq anno comments: In EPM8; expressed and localized properly to the ER; impaired ceramide synthase activity.
up seq anno comments: In EPM8; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of ceramide synthase activity.
up seq anno comments: N-acetylalanine
up seq anno comments: Removed
up seq anno comments: TLC
up seq anno feature ids: PRO_0000185507
up seq anno feature ids: VAR_073336
up seq anno feature ids: VAR_085037
up seq anno feature ids: VAR_085038
up seq anno feature ids: VSP_003049

9606:MCL1
gene id: 9606:MCL1
uniprot id: A0A087WT64
uniprot id: C8YZ26
uniprot id: Q07820
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: Secondary Structure
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: Sequence Variant
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: BCL
up seq anno comments: BH1
up seq anno comments: BH2
up seq anno comments: BH3
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: 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:EPG5
gene id: 9606:EPG5
uniprot id: A0A8Q3SIJ2
uniprot id: Q9BTI0
uniprot id: Q9HCE0
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 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: 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: Ectopic P granules protein 5 homolog
up seq anno comments: In VICIS.
up seq anno comments: In VICIS; relatively mild phenotype characterized by absence or later onset of cardiac or immunologic features; a normally spliced transcript with the missense variant and multiple misspliced transcripts are detected in patient cells; results in 50% decrease of mRNA levels in patient cells most probably due to nonsense-mediated decay of misspliced transcripts.
up seq anno comments: In VICIS; unknown pathological significance.
up seq anno comments: In VICIS; unknown pathological significance; associated in cis with P-457.
up seq anno comments: In VICIS; unknown pathological significance; associated in cis with P-784.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000306255
up seq anno feature ids: VAR_035278
up seq anno feature ids: VAR_035279
up seq anno feature ids: VAR_035280
up seq anno feature ids: VAR_035281
up seq anno feature ids: VAR_035282
up seq anno feature ids: VAR_035283
up seq anno feature ids: VAR_036525
up seq anno feature ids: VAR_036526
up seq anno feature ids: VAR_036527
up seq anno feature ids: VAR_062210
up seq anno feature ids: VAR_069224
up seq anno feature ids: VAR_081369
up seq anno feature ids: VAR_081370
up seq anno feature ids: VAR_081371
up seq anno feature ids: VAR_081372
up seq anno feature ids: VAR_081373
up seq anno feature ids: VAR_081374
up seq anno feature ids: VAR_081375
up seq anno feature ids: VAR_081376
up seq anno feature ids: VAR_081377
up seq anno feature ids: VAR_081378
up seq anno feature ids: VAR_081379
up seq anno feature ids: VAR_081380
up seq anno feature ids: VAR_081381
up seq anno feature ids: VAR_081382
up seq anno feature ids: VAR_081383
up seq anno feature ids: VAR_081384
up seq anno feature ids: VAR_081385
up seq anno feature ids: VAR_081386
up seq anno feature ids: VAR_081387
up seq anno feature ids: VAR_081388
up seq anno feature ids: VAR_081389
up seq anno feature ids: VAR_081390
up seq anno feature ids: VSP_028435

9606:IGFALS
gene id: 9606:IGFALS
uniprot id: P35858
uniprot id: Q8TAY0
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 labels: Chain
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: In ACLSD.
up seq anno comments: In isoform 2.
up seq anno comments: Insulin-like growth factor-binding protein complex acid labile subunit
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_0000020695
up seq anno feature ids: PRO_5004314369
up seq anno feature ids: VAR_022034
up seq anno feature ids: VAR_022035
up seq anno feature ids: VAR_050658
up seq anno feature ids: VAR_050659
up seq anno feature ids: VAR_072475
up seq anno feature ids: VAR_072476
up seq anno feature ids: VAR_072477
up seq anno feature ids: VAR_072478
up seq anno feature ids: VAR_072479
up seq anno feature ids: VAR_072480
up seq anno feature ids: VAR_072481
up seq anno feature ids: VAR_072482
up seq anno feature ids: VAR_072483
up seq anno feature ids: VAR_074071
up seq anno feature ids: VSP_044605

9606:PRAF2
gene id: 9606:PRAF2
uniprot id: A0A024QZ22
uniprot id: O60831
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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 comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: PRA1 family protein 2
up seq anno feature ids: PRO_0000220881
up seq anno feature ids: VAR_050628

9606:CYP4F2
gene id: 9606:CYP4F2
uniprot id: P78329
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: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
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 comments: Associated with coumarin resistance; increased warfarin maintenance dose in patients on warfarin anti-coagulant therapy due to decreased vitamin K catabolism; decreased phylloquinone omega-hydroxylase activity; decreased production of 20-hydroxyeicosatetraenoic acid (20-HETE).
up seq anno comments: Cytochrome P450 4F2
up seq anno comments: In isoform 2.
up seq anno comments: axial binding residue
up seq anno comments: covalent
up seq anno feature ids: PRO_0000051850
up seq anno feature ids: PRO_0000430581
up seq anno feature ids: VAR_013116
up seq anno feature ids: VAR_013117
up seq anno feature ids: VAR_013118
up seq anno feature ids: VAR_013119
up seq anno feature ids: VAR_013120
up seq anno feature ids: VAR_020125
up seq anno feature ids: VSP_055578
up seq anno feature ids: VSP_055579
up seq anno feature ids: VSP_055580

9606:RORB
gene id: 9606:RORB
uniprot id: Q58EY0
up seq anno parent labels: Region
up seq anno labels: DNA Binding
up seq anno labels: Domain Extent
up seq anno comments: NR LBD
up seq anno comments: Nuclear receptor

9606:ZNF875
gene id: 9606:ZNF875
uniprot id: F5H6A5
uniprot id: K7EPW3
uniprot id: P10072
uniprot id: Q7Z6E1
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: 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 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: In isoform 2.
up seq anno comments: KRAB
up seq anno comments: Polar residues
up seq anno comments: Zinc finger protein 875
up seq anno feature ids: PRO_0000047270
up seq anno feature ids: VAR_047404
up seq anno feature ids: VAR_047405
up seq anno feature ids: VAR_047406
up seq anno feature ids: VSP_035755

9606:DAZ4
gene id: 9606:DAZ4
uniprot id: Q658T2
uniprot id: Q86SG3
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 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 comments: DAZ
up seq anno comments: DAZ 1
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 4
up seq anno comments: In isoform 2.
up seq anno comments: RRM 1
up seq anno comments: RRM 2
up seq anno feature ids: PRO_0000081557
up seq anno feature ids: PRO_5004268262
up seq anno feature ids: VSP_009454
up seq anno feature ids: VSP_009455
up seq anno feature ids: VSP_009456

9606:ZBTB17
gene id: 9606:ZBTB17
uniprot id: Q13105
uniprot id: Q53EM1
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: Secondary Structure
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: Non-terminal 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 labels: Zinc Finger
up seq anno comments: BTB
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 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 ubiquitin)
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 and BTB domain-containing protein 17
up seq anno feature ids: PRO_0000047730
up seq anno feature ids: VSP_013424
up seq anno feature ids: VSP_044564

9606:AMZ1
gene id: 9606:AMZ1
uniprot id: A4D202
uniprot id: Q400G9
up 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 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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Archaemetzincin-1
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000159614
up seq anno feature ids: VAR_024849
up seq anno feature ids: VSP_055187
up seq anno feature ids: VSP_055188

9606:BCL2
gene id: 9606:BCL2
uniprot id: A0A024R2B3
uniprot id: A0A024R2C4
uniprot id: A0A7I2V3S7
uniprot id: P10415
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: Secondary Structure
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: Transmembrane
up seq anno labels: Turn
up seq anno comments: Abolishes cleavage by caspase-3.
up seq anno comments: Apoptosis regulator Bcl-2
up seq anno comments: BH1
up seq anno comments: BH2
up seq anno comments: BH3
up seq anno comments: BH4
up seq anno comments: BH4_2
up seq anno comments: Helical
up seq anno comments: In isoform Beta.
up seq anno comments: In non-Hodgkin lymphoma; somatic mutation.
up seq anno comments: Loss of BAX-binding and of anti-apoptotic activity.
up seq anno comments: Loss of BAX-binding and of anti-apoptotic activity. May also affect protein stability.
up seq anno comments: Loss of BAX-binding and of anti-apoptotic activity. No effect on NLRP1-induced IL1B release, nor on homodimerization. Loss of BAX-binding and of anti-apoptotic activity; when associated with A-145 and A146.
up seq anno comments: Loss of BAX-binding and of anti-apoptotic activity. No effect on homodimerization.
up seq anno comments: Loss of BAX-binding and of anti-apoptotic activity; when associated with A-144 and A145.
up seq anno comments: Loss of BAX-binding and of anti-apoptotic activity; when associated with A-145 and A146.
up seq anno comments: No effect on BAX-binding, nor on anti-apoptotic activity. Partial loss of BAX-binding and 50% decrease in anti-apoptotic activity; when associated with L-190 and A-192. No effect on homodimerization; when associated with L-190 and A-191.
up seq anno comments: No effect on cleavage by caspase-3.
up seq anno comments: Partial loss of BAX-binding and 50% decrease in anti-apoptotic activity.
up seq anno comments: Partial loss of BAX-binding and 50% decrease in anti-apoptotic activity; when associated with A-191 and A-192. No effect on homodimerization; when associated with L-190 and A-191.
up seq anno comments: Partial loss of BAX-binding and 50% decrease in anti-apoptotic activity; when associated with L-190 and A-191. No effect on homodimerization; when associated with L-190 and A-191.
up seq anno comments: Phosphoserine; by MAPK8
up seq anno comments: Phosphoserine; by MAPK8 and PKC
up seq anno comments: Phosphothreonine; by MAPK8
up seq anno feature ids: PRO_0000143048
up seq anno feature ids: VAR_000827
up seq anno feature ids: VAR_000828
up seq anno feature ids: VAR_000829
up seq anno feature ids: VAR_014716
up seq anno feature ids: VSP_000512

9606:NDUFA1
gene id: 9606:NDUFA1
uniprot id: O15239
uniprot id: Q6IBB5
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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: In MC1DN12.
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1
up seq anno feature ids: PRO_0000118817
up seq anno feature ids: VAR_014485
up seq anno feature ids: VAR_035099
up seq anno feature ids: VAR_035100
up seq anno feature ids: VAR_036173

9606:IQCA1
gene id: 9606:IQCA1
uniprot id: A0A0A0MSY6
uniprot id: B4DIF4
uniprot id: Q86XH1
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: 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: ATPase_AAA_core
up seq anno comments: Basic residues
up seq anno comments: Dynein regulatory complex protein 11
up seq anno comments: IQ
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno feature ids: PRO_0000283572
up seq anno feature ids: VAR_031495
up seq anno feature ids: VAR_060983
up seq anno feature ids: VAR_060984
up seq anno feature ids: VSP_024327
up seq anno feature ids: VSP_024330
up seq anno feature ids: VSP_024331
up seq anno feature ids: VSP_047012

9606:TSPAN5
gene id: 9606:TSPAN5
uniprot id: P62079
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 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:CETN2
gene id: 9606:CETN2
uniprot id: P41208
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: 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: Strand
up seq anno labels: Turn
up seq anno comments: Centrin-2
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: 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: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno feature ids: PRO_0000073561

9606:C1orf159
gene id: 9606:C1orf159
uniprot id: A0A024R082
uniprot id: Q96HA4
up 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 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, 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: N-linked (GlcNAc...) asparagine
up seq anno comments: Uncharacterized protein C1orf159
up seq anno feature ids: PRO_0000255250
up seq anno feature ids: PRO_5014214180
up seq anno feature ids: VSP_021280
up seq anno feature ids: VSP_021281
up seq anno feature ids: VSP_021282
up seq anno feature ids: VSP_021283
up seq anno feature ids: VSP_021284
up seq anno feature ids: VSP_021285
up seq anno feature ids: VSP_021286

9606:MAGEA1
gene id: 9606:MAGEA1
uniprot id: P43355
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 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: Sequence Variant
up seq anno comments: Abolishes HLA-A1 binding.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: MAGE
up seq anno comments: Melanoma-associated antigen 1
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000156701
up seq anno feature ids: VAR_004283
up seq anno feature ids: VAR_011737
up seq anno feature ids: VAR_036581
up seq anno feature ids: VAR_053491

9606:ERICH1
gene id: 9606:ERICH1
uniprot id: B4DMI5
uniprot id: Q86X53
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
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: Basic residues
up seq anno comments: Glutamate-rich protein 1
up seq anno comments: In a colorectal cancer sample; somatic mutation.
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_0000087029
up seq anno feature ids: VAR_035915
up seq anno feature ids: VAR_050974

9606:BSPRY
gene id: 9606:BSPRY
uniprot id: Q5W0U4
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 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: 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: 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:NLRP1
gene id: 9606:NLRP1
uniprot id: Q9C000
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: Secondary Structure
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: Helix
up seq anno labels: Modified Residue
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 labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolished ability to form the NLRP1 inflammasome.
up seq anno comments: Abolished cleavage by the 3C-like proteinase nsp5 from human coronavirus SARS-CoV-2.
up seq anno comments: Abolished formation of an inflammasome filament together with PYCARD/ASC.
up seq anno comments: Abolished inflammasome filament formation. Impaired ability to induce programmed cell death, but retains CAPS1 processing.
up seq anno comments: Basic and acidic residues
up seq anno comments: CARD
up seq anno comments: Complete loss of autocatalytic processing and IL1B release. Autocatalytic processing cannot be restored by treatment with hydroxylamine.
up seq anno comments: Complete loss of autocatalytic processing and of IL1B release.
up seq anno comments: Complete loss of autocatalytic processing and of IL1B release. Autocatalytic processing can be restored by treatment with hydroxylamine.
up seq anno comments: Complete loss of autocatalytic processing and of IL1B release. Autocatalytic processing cannot be restored by treatment with hydroxylamine.
up seq anno comments: Complete loss of autocatalytic processing and of IL1B release. Autocatalytic processing cannot be restored by treatment with hydroxylamine. Abolished interaction with DPP9. Loss of activation by dsRNA or positive-strand RNA virus.
up seq anno comments: Complete loss of autocatalytic processing, which can be restored by treatment with hydroxylamine.
up seq anno comments: Does not affect ability to induce programmed cell death.
up seq anno comments: Does not affect formation of an inflammasome filament together with PYCARD/ASC.
up seq anno comments: FIIND
up seq anno comments: Impaired ability to form the NLRP1 inflammasome.
up seq anno comments: Impaired ability to induce programmed cell death.
up seq anno comments: Impaired ability to induce programmed cell death. Abolished formation of an inflammasome filament together with PYCARD/ASC.
up seq anno comments: In 3A mutant; abolished activation of the NLRP1 inflammasome in response to UV-B irradiation and ribosome collisions.
up seq anno comments: In AIADK; decreased interaction with DPP9, leading to increased inflammasome activity.
up seq anno comments: In AIADK; unknown pathological significance.
up seq anno comments: In JRRP; gain-of-function variant resulting in spontaneous inflammasome activation; increased NLRP1-inflammasome complex assembly.
up seq anno comments: In MSPC; destabilization of the N-terminal fragment.
up seq anno comments: In MSPC; increased NLRP1-inflammasome complex assembly.
up seq anno comments: In MSPC; increased NLRP1-inflammasome complex assembly; altered protein folding.
up seq anno comments: In VAMAS1; risk factor.
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: Increased autocatalytic processing and IL1B release.
up seq anno comments: Inhibits cleavage by HRV-14 Protease 3C.
up seq anno comments: Inhibits cleavage by Protease 3C from Coxsackievirus B3 and HRV-14.
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: Loss of ATP binding.
up seq anno comments: NACHT
up seq anno comments: NACHT, LRR and PYD domains-containing protein 1
up seq anno comments: NACHT, LRR and PYD domains-containing protein 1, C-terminus
up seq anno comments: NACHT, LRR and PYD domains-containing protein 1, N-terminus
up seq anno comments: No effect on autocatalytic processing, nor on IL1B release.
up seq anno comments: No effect on cleavage by HRV-14 Protease 3C.
up seq anno comments: No effect.
up seq anno comments: Partial loss of autocatalytic processing (50%) and of IL1B release (50%).
up seq anno comments: Partial loss of autocatalytic processing and of IL1B release.
up seq anno comments: Phosphoserine; by MAP3K20
up seq anno comments: Phosphoserine; by MAPK11
up seq anno comments: Phosphoserine; by MAPK11 and MAP3K20
up seq anno comments: Phosphoserine; by MAPK11 and MAPK14
up seq anno comments: Phosphoserine; by MAPK11 and MAPk14
up seq anno comments: Phosphoserine; by MAPK14
up seq anno comments: Phosphothreonine; by MAP3K20
up seq anno comments: Phosphothreonine; by MAPK11
up seq anno comments: Phosphothreonine; by MAPK11 and MAP3K20

9606:OR5A2
gene id: 9606:OR5A2
uniprot id: A0A126GVD5
uniprot id: Q8NGI9
up 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 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_RECEP_F1_2
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 5A2
up seq anno feature ids: PRO_0000150573
up seq anno feature ids: VAR_024097
up seq anno feature ids: VAR_048045

9606:TMEM64
gene id: 9606:TMEM64
uniprot id: Q6YI46
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 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: In isoform 3 and isoform 4.
up seq anno comments: In isoform 3.
up seq anno comments: Transmembrane protein 64
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:SCG2
gene id: 9606:SCG2
uniprot id: P13521
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 labels: Chain
up seq anno labels: Modified Residue
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: Manserin
up seq anno comments: Phosphoserine
up seq anno comments: Secretogranin-2
up seq anno comments: Secretoneurin
up seq anno comments: Sulfotyrosine
up seq anno feature ids: PRO_0000005452
up seq anno feature ids: PRO_0000005453
up seq anno feature ids: PRO_0000005454
up seq anno feature ids: PRO_0000432735
up seq anno feature ids: VAR_031555
up seq anno feature ids: VAR_031556
up seq anno feature ids: VAR_031557
up seq anno feature ids: VAR_031558
up seq anno feature ids: VAR_031559
up seq anno feature ids: VAR_048755

9606:KCNE3
gene id: 9606:KCNE3
uniprot id: Q6IAE6
uniprot id: Q9Y6H6
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: Secondary Structure
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: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Decreases current 4-fold in KCNH2/KCNE3 channel.
up seq anno comments: Found in some patients with periodic paralysis; unknown pathological significance; alters voltage dependence, lowers current and diminishes open probability in KCNC4/KCNE3 channel; lowers current in KCNQ1/KCNE3 channel.
up seq anno comments: Helical
up seq anno comments: In BRGDA6; also in a patient suffering from drug-induced torsades de pointes; unknown pathological significance.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Potassium voltage-gated channel subfamily E member 3
up seq anno feature ids: PRO_0000144289
up seq anno feature ids: VAR_015064
up seq anno feature ids: VAR_058635
up seq anno feature ids: VAR_058636
up seq anno feature ids: VAR_058637

9606:DMWD
gene id: 9606:DMWD
uniprot id: Q09019
uniprot id: Q8WUW6
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 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: Repeat
up seq anno labels: Sequence Conflict
up seq anno comments: Basic and acidic residues
up seq anno comments: Dystrophia myotonica WD repeat-containing protein
up seq anno comments: N-acetylalanine
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: 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 feature ids: PRO_0000050956

9606:RASGRP3
gene id: 9606:RASGRP3
uniprot id: Q8IV61
up 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 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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: Acidic residues
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: N-terminal Ras-GEF
up seq anno comments: Phorbol-ester/DAG-type
up seq anno comments: Ras guanyl-releasing protein 3
up seq anno comments: Ras-GEF
up seq anno feature ids: PRO_0000068883
up seq anno feature ids: VAR_051901
up seq anno feature ids: VSP_047371

9606:KBTBD6
gene id: 9606:KBTBD6
uniprot id: Q86V97
up seq anno parent labels: Experimental Information
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: Motif
up seq anno labels: Mutagenesis Site
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: 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: 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 repeat and BTB domain-containing protein 6
up seq anno comments: Loss of interaction with CUL3. Loss of function in TIAM1 ubiquitination and degradation.
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000119084

9606:ANGPT1
gene id: 9606:ANGPT1
uniprot id: B4DTQ9
uniprot id: Q15389
up 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 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: 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: Angiopoietin-1
up seq anno comments: Fibrinogen C-terminal
up seq anno comments: In HAE5; decreased oligomerization; decreased interaction with TEK; fails to form proper cell-cell adhesions in an in vitro model of endothelial cell barrier.
up seq anno comments: In HAE5; unknown pathological significance; does not affect oligomerization; does not affect interaction with TEK.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000009110
up seq anno feature ids: VAR_069165
up seq anno feature ids: VAR_085814
up seq anno feature ids: VAR_085815
up seq anno feature ids: VAR_085816
up seq anno feature ids: VSP_046324

9606:ASB17
gene id: 9606:ASB17
uniprot id: Q8WXJ9
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno comments: ANK
up seq anno comments: Ankyrin repeat and SOCS box protein 17
up seq anno comments: SOCS box
up seq anno feature ids: PRO_0000066959
up seq anno feature ids: VAR_024174
up seq anno feature ids: VAR_048288

9606:LCMT2
gene id: 9606:LCMT2
uniprot id: O60294
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: 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 comments: tRNA wybutosine-synthesizing protein 4
up seq anno feature ids: PRO_0000204423
up seq anno feature ids: VAR_022081
up seq anno feature ids: VAR_023378
up seq anno feature ids: VAR_023379
up seq anno feature ids: VAR_023380

9606:KLK11
gene id: 9606:KLK11
uniprot id: A0A1R3UDR5
uniprot id: Q9UBX7
up 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: 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: Glycosylation 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 comments: Activation peptide
up seq anno comments: Charge relay system
up seq anno comments: In isoform 1 and isoform 4.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: Kallikrein-11
up seq anno comments: Kallikrein-11 inactive chain 1
up seq anno comments: Kallikrein-11 inactive chain 2
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Peptidase S1
up seq anno feature ids: PRO_0000027954
up seq anno feature ids: PRO_0000027955
up seq anno feature ids: PRO_0000302061
up seq anno feature ids: PRO_0000302062
up seq anno feature ids: PRO_5010376006
up seq anno feature ids: VAR_021943
up seq anno feature ids: VAR_024296
up seq anno feature ids: VAR_051856
up seq anno feature ids: VSP_005402
up seq anno feature ids: VSP_043326

9606:EFCAB7
gene id: 9606:EFCAB7
uniprot id: A8K855
up 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: 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: Sequence Variant
up seq anno labels: Splice 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 calcium-binding domain-containing protein 7
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000317266
up seq anno feature ids: VAR_038493
up seq anno feature ids: VAR_038494
up seq anno feature ids: VAR_038495
up seq anno feature ids: VAR_038496
up seq anno feature ids: VAR_038497
up seq anno feature ids: VSP_030930

9606:PSMG2
gene id: 9606:PSMG2
uniprot id: Q969U7
uniprot id: Q9P1R6
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 labels: Chain
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: In PRAAS4; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: Phosphothreonine
up seq anno comments: Proteasome assembly chaperone 2
up seq anno feature ids: PRO_0000322552
up seq anno feature ids: VAR_085403
up seq anno feature ids: VSP_055721

9606:MAGEA8
gene id: 9606:MAGEA8
uniprot id: B2R9W4
uniprot id: P43361
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Sequence Variant
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:FAT3
gene id: 9606:FAT3
uniprot id: Q8TDW7
up 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 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: 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 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 28
up seq anno comments: Cadherin 29
up seq anno comments: Cadherin 3
up seq anno comments: Cadherin 30
up seq anno comments: Cadherin 31
up seq anno comments: Cadherin 32
up seq anno comments: Cadherin 33
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: EGF-like 1
up seq anno comments: EGF-like 2
up seq anno comments: EGF-like 3
up seq anno comments: EGF-like 4; calcium-binding
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: Laminin G-like
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Polar residues
up seq anno comments: Protocadherin Fat 3
up seq anno feature ids: PRO_0000324634
up seq anno feature ids: VAR_039851
up seq anno feature ids: VAR_039852
up seq anno feature ids: VAR_039853
up seq anno feature ids: VAR_039854
up seq anno feature ids: VAR_039855
up seq anno feature ids: VAR_039856
up seq anno feature ids: VAR_039857
up seq anno feature ids: VAR_039858
up seq anno feature ids: VAR_039859
up seq anno feature ids: VSP_059739
up seq anno feature ids: VSP_059761

9606:SMIM8
gene id: 9606:SMIM8
uniprot id: Q96KF7
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: Small integral membrane protein 8
up seq anno feature ids: PRO_0000089550

9606:TGFB1
gene id: 9606:TGFB1
uniprot id: A0A499FJK2
uniprot id: P01137
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: Secondary Structure
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: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes interchain disulfide bond with LTBP1 and/or LRRC32, and subsequent regulation of activation of TGF-beta-1.
up seq anno comments: Associated with higher bone mineral density and lower frequency of vertebral fractures in Japanese post-menopausal women.
up seq anno comments: Cell attachment site
up seq anno comments: Does not affect integrin-binding or activation of TGF-beta-1.
up seq anno comments: In CAEND.
up seq anno comments: In CAEND; higher levels of active TGF-beta-1 in the culture medium.
up seq anno comments: In CAEND; higher levels of active TGF-beta-1 in the culture medium; enhances osteoclast formation in vitro.
up seq anno comments: In CAEND; leads to TGF-beta-1 intracellular accumulation.
up seq anno comments: In CAEND; sporadic case; higher levels of active TGF-beta-1 in the culture medium.
up seq anno comments: In IBDIMDE; decreased TGFB1-mediated activation of SMAD signaling; reduced levels of secreted TGFB1.
up seq anno comments: In IBDIMDE; loss of TGFB1-mediated activation of SMAD signaling; mutant TGFB1 is not secreted.
up seq anno comments: Interchain
up seq anno comments: Interchain (with C-1359 or C-1384 in LTBP1); in inactive form
up seq anno comments: Interchain (with C-223)
up seq anno comments: Interchain (with C-225)
up seq anno comments: Latency-associated peptide
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Prevents cleavage and subsequent maturation of the protein. Generated in order to mimic the structure of the Transforming growth factor beta-1 proprotein.
up seq anno comments: Strongly inhibits integrin-binding and activation of TGF-beta-1.
up seq anno comments: TGF_BETA_2
up seq anno comments: Transforming growth factor beta
up seq anno comments: Transforming growth factor beta-1
up seq anno feature ids: PRO_0000033762
up seq anno feature ids: PRO_0000033763
up seq anno feature ids: PRO_5019883448
up seq anno feature ids: VAR_016171
up seq anno feature ids: VAR_016172
up seq anno feature ids: VAR_016173
up seq anno feature ids: VAR_017607
up seq anno feature ids: VAR_017608
up seq anno feature ids: VAR_017609
up seq anno feature ids: VAR_017610
up seq anno feature ids: VAR_017611
up seq anno feature ids: VAR_067303
up seq anno feature ids: VAR_067304
up seq anno feature ids: VAR_081584
up seq anno feature ids: VAR_081585
up seq anno feature ids: VAR_081586

9606:PTGES
gene id: 9606:PTGES
uniprot id: O14684
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: Secondary Structure
up seq anno parent labels: 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: Sequence Conflict
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: 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:SDC3
gene id: 9606:SDC3
uniprot id: O75056
up 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 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: 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: O-linked (GalNAc) serine; by GALNT13
up seq anno comments: O-linked (GalNAc) threonine; by GALNT13
up seq anno comments: O-linked (Xyl...) (glycosaminoglycan) serine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: Syndecan-3
up seq anno feature ids: PRO_0000183989
up seq anno feature ids: VAR_027251
up seq anno feature ids: VAR_027252
up seq anno feature ids: VAR_027253

9606:FBXW10B
gene id: 9606:FBXW10B
uniprot id: A0A087WSX6
uniprot id: O95170
uniprot id: Q59EB2
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 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: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: B box-type
up seq anno comments: Basic and acidic residues
up seq anno comments: F-box and WD repeat domain containing protein 10B
up seq anno comments: In isoform 2.
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 feature ids: PRO_0000315833
up seq anno feature ids: VAR_038340
up seq anno feature ids: VSP_040554

9606:CANT1
gene id: 9606:CANT1
uniprot id: Q8WVQ1
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: Secondary Structure
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: 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: Cytoplasmic
up seq anno comments: Does not affect activity.
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In DBQD1 and EDM7; severely affects activity.
up seq anno comments: In DBQD1.
up seq anno comments: In DBQD1; affects protein secretion.
up seq anno comments: In DBQD1; affects protein stability and secretion.
up seq anno comments: In DBQD1; severely affects activity.
up seq anno comments: In EDM7; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Increases GDPase activity 2-fold and ADPase activity 5-fold. Forms dimer even at suboptimal Ca(2+) concentrations.
up seq anno comments: Increases activity 5-fold.
up seq anno comments: Interchain
up seq anno comments: Loss of activity.
up seq anno comments: Loss of dimer formation.
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No effect on GDPase and ADPase activities. No effect on dimer formation; when associated with S-287.
up seq anno comments: Reduces GDPase activity 1.3-fold and ADPase activity 2-fold. Severe loss of dimer formation; when associated with S-287.
up seq anno comments: Reduces GDPase activity 1.7-fold and ADPase activity 1.5-fold. No effect on dimer formation; when associated with S-287.
up seq anno comments: Reduces GDPase activity 1.7-fold and ADPase activity 1.5-fold. Severe loss of dimer formation; when associated with S-287.
up seq anno comments: Reduces GDPase activity 2-fold and ADPase activity 2.5-fold. No effect on dimer formation; when associated with S-287.
up seq anno comments: Reduces GDPase and ADPase activities 1.3-fold.
up seq anno comments: Reduces GDPase and ADPase activities 1.7-fold. Severe loss of dimer formation; when associated with S-287.
up seq anno comments: Reduces activity by 95%.
up seq anno comments: Reduces activity by 96%.
up seq anno comments: Reduces activity by 98%.
up seq anno comments: Reduces activity by 99%.
up seq anno comments: Reduces activity by over 99.9%.
up seq anno comments: Slightly reduced activity.
up seq anno comments: Soluble calcium-activated nucleotidase 1
up seq anno feature ids: PRO_0000209925
up seq anno feature ids: VAR_062980
up seq anno feature ids: VAR_062981
up seq anno feature ids: VAR_062982
up seq anno feature ids: VAR_068655
up seq anno feature ids: VAR_068656
up seq anno feature ids: VAR_068657
up seq anno feature ids: VAR_068658
up seq anno feature ids: VAR_068659
up seq anno feature ids: VAR_068660
up seq anno feature ids: VAR_068661
up seq anno feature ids: VAR_068662
up seq anno feature ids: VAR_068663
up seq anno feature ids: VAR_068664
up seq anno feature ids: VAR_080400
up seq anno feature ids: VSP_013760
up seq anno feature ids: VSP_013761
up seq anno feature ids: VSP_054260

9606:DTWD2
gene id: 9606:DTWD2
uniprot id: Q8NBA8
up 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 labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Splice Variant
up seq anno comments: DXTW
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno comments: tRNA-uridine aminocarboxypropyltransferase 2
up seq anno feature ids: PRO_0000271128
up seq anno feature ids: VSP_060608

9606:NPIPA8
gene id: 9606:NPIPA8
uniprot id: E9PJI5
uniprot id: P0DM63
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
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:ADARB2
gene id: 9606:ADARB2
uniprot id: Q9NS39
up 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 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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: A to I editase
up seq anno comments: Basic residues
up seq anno comments: DRBM 1
up seq anno comments: DRBM 2
up seq anno comments: Double-stranded RNA-specific editase B2
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: Proton donor
up seq anno feature ids: PRO_0000171782
up seq anno feature ids: VAR_020438
up seq anno feature ids: VAR_035806
up seq anno feature ids: VAR_035807
up seq anno feature ids: VAR_048726
up seq anno feature ids: VSP_056926
up seq anno feature ids: VSP_056927

9606:GSTT2B
gene id: 9606:GSTT2B
uniprot id: G9J6Q5
uniprot id: P0CG30
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: 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: Sequence Conflict
up seq anno labels: Sequence Variant
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: Glutathione S-transferase theta-2B
up seq anno comments: Removed
up seq anno feature ids: PRO_0000395344
up seq anno feature ids: VAR_033982

9606:VWC2L
gene id: 9606:VWC2L
uniprot id: B2RUY7
uniprot id: B7ZW27
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: VWFC 1
up seq anno comments: VWFC 2
up seq anno comments: von Willebrand factor C domain-containing protein 2-like
up seq anno feature ids: PRO_0000348060
up seq anno feature ids: PRO_5014300232
up seq anno feature ids: VSP_035088
up seq anno feature ids: VSP_035089

9606:CLUL1
gene id: 9606:CLUL1
uniprot id: B7Z5R4
uniprot id: F5GWQ8
uniprot id: Q15846
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: 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: CLa
up seq anno comments: CLb
up seq anno comments: Clusterin-like protein 1
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000005552

9606:C3orf14
gene id: 9606:C3orf14
uniprot id: Q9HBI5
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno comments: Uncharacterized protein C3orf14
up seq anno feature ids: PRO_0000089388

9606:GPR152
gene id: 9606:GPR152
uniprot id: A0A0I9RJ67
uniprot id: Q8TDT2
up 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 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: 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_RECEP_F1_2
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: Polar residues
up seq anno comments: Probable G-protein coupled receptor 152
up seq anno feature ids: PRO_0000069635
up seq anno feature ids: VAR_059323

9606:SMYD4
gene id: 9606:SMYD4
uniprot id: Q8IYR2
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: 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 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:PARP10
gene id: 9606:PARP10
uniprot id: B4E0C4
uniprot id: E9PK67
uniprot id: E9PNI7
uniprot id: Q53GL7
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: Secondary Structure
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: 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: Does not affect catalytic activity.
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:HIBCH
gene id: 9606:HIBCH
uniprot id: A0A140VJL0
uniprot id: Q6NVY1
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: Secondary Structure
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: 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: 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial
up seq anno comments: ECH_2
up seq anno comments: In HIBCHD.
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 comments: Phosphoserine
up seq anno feature ids: PRO_0000284929
up seq anno feature ids: VAR_031869
up seq anno feature ids: VAR_031870
up seq anno feature ids: VSP_024780

9606:MLXIPL
gene id: 9606:MLXIPL
uniprot id: Q9NP71
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: Secondary Structure
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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Carbohydrate-responsive element-binding protein
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: Phosphoserine
up seq anno comments: Phosphoserine; by AMPK
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: bHLH
up seq anno feature ids: PRO_0000127504
up seq anno feature ids: VAR_049556
up seq anno feature ids: VAR_049557
up seq anno feature ids: VSP_002167
up seq anno feature ids: VSP_002168
up seq anno feature ids: VSP_002169
up seq anno feature ids: VSP_002170
up seq anno feature ids: VSP_002171
up seq anno feature ids: VSP_002172
up seq anno feature ids: VSP_002173

9606:AGPS
gene id: 9606:AGPS
uniprot id: B7Z3Q4
uniprot id: O00116
up 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: 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: Sequence Variant
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: FAD-binding PCMH-type
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:OR4K1
gene id: 9606:OR4K1
uniprot id: Q8NGD4
up 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 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 4K1
up seq anno feature ids: PRO_0000150552
up seq anno feature ids: VAR_054121
up seq anno feature ids: VAR_054122
up seq anno feature ids: VAR_054123

9606:ISLR2
gene id: 9606:ISLR2
uniprot id: Q6UXK2
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 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: 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: Acidic residues
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: Immunoglobulin superfamily containing leucine-rich repeat protein 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: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000317498
up seq anno feature ids: VAR_049881

9606:CXCL2
gene id: 9606:CXCL2
uniprot id: A0A024RDD9
uniprot id: P19875
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 labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Signal Peptide
up seq anno labels: Strand
up seq anno comments: C-X-C motif chemokine
up seq anno comments: C-X-C motif chemokine 2
up seq anno comments: GRO-beta(5-73)
up seq anno comments: SCY
up seq anno feature ids: PRO_0000005063
up seq anno feature ids: PRO_0000005064
up seq anno feature ids: PRO_5005101860

9606:PGGHG
gene id: 9606:PGGHG
uniprot id: A0A024R1Z9
uniprot id: Q32M88
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: 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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Abolishes catalytic activity.
up seq anno comments: Glyco_hydro_65m
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno comments: Protein-glucosylgalactosylhydroxylysine glucosidase
up seq anno comments: Proton donor
up seq anno comments: Significantly impairs catalytic activity.
up seq anno feature ids: PRO_0000329004
up seq anno feature ids: VSP_032895
up seq anno feature ids: VSP_032896

9606:RRP36
gene id: 9606:RRP36
uniprot id: Q96EU6
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 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: 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: In isoform 2.
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Ribosomal RNA processing protein 36 homolog
up seq anno feature ids: PRO_0000252157
up seq anno feature ids: VAR_027786
up seq anno feature ids: VSP_020884

9606:FBXO27
gene id: 9606:FBXO27
uniprot id: A0A384MR61
uniprot id: Q8NI29
up seq anno parent labels: Experimental Information
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: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno comments: F-box
up seq anno comments: F-box only protein 27
up seq anno comments: FBA
up seq anno comments: Reduces interaction with glycosylated concanavalin-A in vitro.
up seq anno feature ids: PRO_0000119914

9606:ARID3B
gene id: 9606:ARID3B
uniprot id: Q8IVW6
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 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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: ARID
up seq anno comments: AT-rich interactive domain-containing protein 3B
up seq anno comments: Acidic residues
up seq anno comments: Asymmetric dimethylarginine
up seq anno comments: Impairs binding to RB1.
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: Polar residues
up seq anno comments: REKLES
up seq anno feature ids: PRO_0000295162
up seq anno feature ids: VSP_026773
up seq anno feature ids: VSP_026774
up seq anno feature ids: VSP_039860

9606:SPEG
gene id: 9606:SPEG
uniprot id: Q15772
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: Secondary Structure
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: 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: Asymmetric dimethylarginine; alternate
up seq anno comments: Basic and acidic residues
up seq anno comments: Fibronectin type-III 1
up seq anno comments: Fibronectin type-III 2
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: Ig-like 6
up seq anno comments: Ig-like 7
up seq anno comments: Ig-like 8
up seq anno comments: Ig-like 9
up seq anno comments: In CNM5.
up seq anno comments: In a gastric adenocarcinoma sample; somatic mutation.
up seq anno comments: In an ovarian mucinous carcinoma sample; somatic mutation.
up seq anno comments: In isoform 1.
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: 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: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Protein kinase 1
up seq anno comments: Protein kinase 2
up seq anno comments: Proton acceptor
up seq anno comments: Striated muscle preferentially expressed protein kinase
up seq anno feature ids: PRO_0000072666
up seq anno feature ids: VAR_041101
up seq anno feature ids: VAR_041102
up seq anno feature ids: VAR_041103
up seq anno feature ids: VAR_041104
up seq anno feature ids: VAR_041105
up seq anno feature ids: VAR_041106
up seq anno feature ids: VAR_041107
up seq anno feature ids: VAR_041108
up seq anno feature ids: VAR_041109
up seq anno feature ids: VAR_041110
up seq anno feature ids: VAR_041111
up seq anno feature ids: VAR_041112
up seq anno feature ids: VAR_041113
up seq anno feature ids: VAR_059769
up seq anno feature ids: VAR_071808
up seq anno feature ids: VSP_018258
up seq anno feature ids: VSP_018259
up seq anno feature ids: VSP_018261
up seq anno feature ids: VSP_018262
up seq anno feature ids: VSP_036071

9606:WDFY4
gene id: 9606:WDFY4
uniprot id: A0A1W7HCV9
uniprot id: Q6ZS81
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: BEACH
up seq anno comments: BEACH-type PH
up seq anno comments: Basic and acidic residues
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: 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- and FYVE domain-containing protein 4
up seq anno feature ids: PRO_0000251254
up seq anno feature ids: VAR_027684
up seq anno feature ids: VAR_027685
up seq anno feature ids: VAR_047261
up seq anno feature ids: VSP_020750
up seq anno feature ids: VSP_020751
up seq anno feature ids: VSP_035683
up seq anno feature ids: VSP_035684
up seq anno feature ids: VSP_035685
up seq anno feature ids: VSP_035686
up seq anno feature ids: VSP_035687

9606:MFAP1
gene id: 9606:MFAP1
uniprot id: P55081
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 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: Sequence Conflict
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Microfibrillar-associated protein 1
up seq anno comments: N-acetylserine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000096458

9606:SLC8A2
gene id: 9606:SLC8A2
uniprot id: Q9UPR5
up 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: 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: Modified Residue
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: Alpha-1
up seq anno comments: Alpha-2
up seq anno comments: Calx-beta 1
up seq anno comments: Calx-beta 2
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Found in a family with atypical autism and severe epilepsy; unknown pathological significance.
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Sodium/calcium exchanger 2
up seq anno feature ids: PRO_0000019382
up seq anno feature ids: VAR_050226
up seq anno feature ids: VAR_072078

9606:GJC3
gene id: 9606:GJC3
uniprot id: Q8NFK1
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: 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: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Gap junction gamma-3 protein
up seq anno comments: Helical
up seq anno feature ids: PRO_0000057874

9606:SGCG
gene id: 9606:SGCG
uniprot id: Q13326
up 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 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: Gamma-sarcoglycan
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In LGMDR5.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000175248
up seq anno feature ids: VAR_010397
up seq anno feature ids: VAR_010398
up seq anno feature ids: VAR_010399
up seq anno feature ids: VAR_010430
up seq anno feature ids: VAR_012202
up seq anno feature ids: VAR_081101

9606:STX7
gene id: 9606:STX7
uniprot id: O15400
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 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: Splice Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Helical; Anchor for type IV membrane protein
up seq anno comments: In isoform 2.
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: Syntaxin-7
up seq anno comments: Vesicular
up seq anno comments: t-SNARE coiled-coil homology
up seq anno feature ids: PRO_0000210213
up seq anno feature ids: VSP_012938

9606:TIMM21
gene id: 9606:TIMM21
uniprot id: A8K1K8
uniprot id: Q9BVV7
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 labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Transit Peptide
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: Mitochondrial import inner membrane translocase subunit Tim21
up seq anno comments: Mitochondrion
up seq anno feature ids: PRO_0000043228
up seq anno feature ids: VAR_052306

9606:LRRN3
gene id: 9606:LRRN3
uniprot id: A4D0T1
uniprot id: Q9H3W5
uniprot id: Q9NUU4
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 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: 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: Extracellular
up seq anno comments: Fibronectin type-III
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 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: LRRCT
up seq anno comments: LRRNT
up seq anno comments: Leucine-rich repeat neuronal protein 3
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000045823
up seq anno feature ids: PRO_5004331999
up seq anno feature ids: PRO_5014296873
up seq anno feature ids: VAR_049901

9606:ACSM5
gene id: 9606:ACSM5
uniprot id: Q6NUN0
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: 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 labels: Splice Variant
up seq anno labels: Transit Peptide
up seq anno comments: Acyl-coenzyme A synthetase ACSM5, 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; alternate
up seq anno feature ids: PRO_0000306101
up seq anno feature ids: VAR_035252
up seq anno feature ids: VAR_035253
up seq anno feature ids: VAR_035254
up seq anno feature ids: VAR_035255
up seq anno feature ids: VAR_055495
up seq anno feature ids: VAR_055496
up seq anno feature ids: VAR_061011
up seq anno feature ids: VSP_028398

9606:FAM209A
gene id: 9606:FAM209A
uniprot id: Q5JX71
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 labels: Chain
up seq anno labels: Coiled-Coil
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: Helical
up seq anno comments: Protein FAM209A
up seq anno feature ids: PRO_0000264155
up seq anno feature ids: VAR_029621
up seq anno feature ids: VAR_029622
up seq anno feature ids: VAR_029623
up seq anno feature ids: VAR_029624
up seq anno feature ids: VAR_033761

9606:TRIM43
gene id: 9606:TRIM43
uniprot id: Q96BQ3
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: 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: RING-type
up seq anno comments: Tripartite motif-containing protein 43
up seq anno feature ids: PRO_0000056265

9606:MAD2L2
gene id: 9606:MAD2L2
uniprot id: A0A024R4I4
uniprot id: Q9UI95
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 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: Turn
up seq anno comments: Alters interaction with REV3L and REV1. Loss of interaction with REV3L; when associated with A-63. No effect on interaction with REV1; when associated with A-124.
up seq anno comments: Alters interaction with REV3L. Loss of interaction with REV3L; when associated with A-171.
up seq anno comments: HORMA
up seq anno comments: In FANCV; drastically reduced protein abundance.
up seq anno comments: Induces structural changes that increase affinity for REV3L and REV1. No effect on interaction with REV1; when associated with A-171.
up seq anno comments: Mitotic spindle assembly checkpoint protein MAD2B
up seq anno comments: Significantly prevents interaction with REV1; no effect on interaction with REV3L.
up seq anno feature ids: PRO_0000126119
up seq anno feature ids: VAR_077981

9606:P3R3URF
gene id: 9606:P3R3URF
uniprot id: A0A087WWA1
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno comments: PIK3R3 upstream open reading frame protein
up seq anno feature ids: PRO_0000446328

9606:RLN2
gene id: 9606:RLN2
uniprot id: P04090
up 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 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: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Connecting peptide
up seq anno comments: In isoform 2.
up seq anno comments: Interchain (between B and A chains)
up seq anno comments: Pyrrolidone carboxylic acid
up seq anno comments: Relaxin A chain
up seq anno comments: Relaxin B chain
up seq anno feature ids: PRO_0000016079
up seq anno feature ids: PRO_0000016080
up seq anno feature ids: PRO_0000016081
up seq anno feature ids: VAR_034444
up seq anno feature ids: VAR_050007
up seq anno feature ids: VSP_002711
up seq anno feature ids: VSP_002712

9606:CEP104
gene id: 9606:CEP104
uniprot id: A0A6Q8PFR4
uniprot id: A0A6Q8PGB3
uniprot id: A0A6Q8PHR0
uniprot id: O60308
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 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: 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: Centrosomal protein of 104 kDa
up seq anno comments: HEAT 1
up seq anno comments: HEAT 2
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Polar residues
up seq anno comments: TOG
up seq anno feature ids: PRO_0000050763
up seq anno feature ids: VAR_020042
up seq anno feature ids: VAR_034036
up seq anno feature ids: VSP_014364
up seq anno feature ids: VSP_014365
up seq anno feature ids: VSP_014366
up seq anno feature ids: VSP_014367

9606:HNRNPA2B1
gene id: 9606:HNRNPA2B1
uniprot id: P22626
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: Secondary Structure
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: 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: About 10-fold increase in interferon beta production.
up seq anno comments: Asymmetric dimethylarginine; alternate
up seq anno comments: Dimethylated arginine; alternate
up seq anno comments: Does not affect hydrogel-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: Heterogeneous nuclear ribonucleoproteins A2/B1
up seq anno comments: Impairs hydrogel-binding.
up seq anno comments: In IBMPFD2.
up seq anno comments: In isoform A2.
up seq anno comments: N-acetylmethionine
up seq anno comments: N6,N6-dimethyllysine; alternate
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: Nuclear localization signal
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: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: RRM 1
up seq anno comments: RRM 2
up seq anno comments: Slightly affects hydrogel-binding.
up seq anno feature ids: PRO_0000081836
up seq anno feature ids: VAR_070591
up seq anno feature ids: VSP_005830

9606:C8orf86
gene id: 9606:C8orf86
uniprot id: Q6ZUL3
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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 LINC03042
up seq anno feature ids: PRO_0000348466
up seq anno feature ids: VAR_046186
up seq anno feature ids: VSP_035171
up seq anno feature ids: VSP_035172

9606:EBNA1BP2
gene id: 9606:EBNA1BP2
uniprot id: H7C2Q8
uniprot id: Q6IB29
uniprot id: Q99848
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 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: 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: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Probable rRNA-processing protein EBP2
up seq anno feature ids: PRO_0000119993
up seq anno feature ids: VAR_024437

9606:METTL7B
gene id: 9606:METTL7B
uniprot id: Q6UX53
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno labels: Mutagenesis Site
up seq anno labels: Signal Peptide
up seq anno comments: Loss of catalytic activity.
up seq anno comments: Thiol S-methyltransferase METTL7B
up seq anno feature ids: PRO_0000251922

9606:CD200R1L
gene id: 9606:CD200R1L
uniprot id: Q6Q8B3
up 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 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 labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cell surface glycoprotein CD200 receptor 2
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: Ig-like V-type
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000346451
up seq anno feature ids: VAR_045897
up seq anno feature ids: VSP_035002

9606:CNTD1
gene id: 9606:CNTD1
uniprot id: Q8N815
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 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: Cyclin N-terminal
up seq anno comments: Cyclin N-terminal domain-containing protein 1
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000313715
up seq anno feature ids: VAR_037708
up seq anno feature ids: VSP_030111

9606:CKAP2
gene id: 9606:CKAP2
uniprot id: Q8WWK9
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Basic and acidic residues
up seq anno comments: Cytoskeleton-associated protein 2
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: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000245774
up seq anno feature ids: VAR_054018
up seq anno feature ids: VAR_069359
up seq anno feature ids: VSP_047100
up seq anno feature ids: VSP_047101
up seq anno feature ids: VSP_047102
up seq anno feature ids: VSP_055686

9606:ERI3
gene id: 9606:ERI3
uniprot id: B4DEX5
uniprot id: B4DN03
uniprot id: O43414
up 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 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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: ERI1 exoribonuclease 3
up seq anno comments: Exonuclease
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_0000317626
up seq anno feature ids: VSP_031103
up seq anno feature ids: VSP_031104

9606:RNASE7
gene id: 9606:RNASE7
uniprot id: Q9H1E1
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: Secondary Structure
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: Helix
up seq anno labels: Mass
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 comments: Loss of catalytic activity. No effect on bactericidal activity.
up seq anno comments: Moderate loss of bactericidal activity. No effect on catalytic activity.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No significant effect on bactericidal activity or catalytic activity.
up seq anno comments: Proton acceptor
up seq anno comments: Proton donor
up seq anno comments: Ribonuclease 7
up seq anno comments: Significant loss of bactericidal activity. No effect on catalytic activity.
up seq anno comments: Slight loss of bactericidal activity. No effect on catalytic activity.
up seq anno feature ids: PRO_0000030901
up seq anno feature ids: VAR_024619
up seq anno feature ids: VAR_024620

9606:GPSM2
gene id: 9606:GPSM2
uniprot id: A0A024R0F8
uniprot id: B4DIF1
uniprot id: P81274
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: 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: Repeat
up seq anno labels: Sequence Conflict
up seq anno comments: Abolishes interaction with INSC; when associated with E-228.
up seq anno comments: Abolishes location at mitotic spindle poles; when associated with A-228.
up seq anno comments: Abolishes location at mitotic spindle poles; when associated with A-243.
up seq anno comments: G-protein-signaling modulator 2
up seq anno comments: GoLoco 1
up seq anno comments: GoLoco 2
up seq anno comments: GoLoco 3
up seq anno comments: GoLoco 4
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PKC
up seq anno comments: Phosphoserine; by PKG
up seq anno comments: Phosphothreonine
up seq anno comments: Strongly reduces interaction with INSC. Abolishes interaction with INSC; when associated with R-290.
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: TPR 8
up seq anno feature ids: PRO_0000106358

9606:TMEM150C
gene id: 9606:TMEM150C
uniprot id: B9EJG8
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 labels: Chain
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: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Transmembrane protein 150C
up seq anno feature ids: PRO_0000395032
up seq anno feature ids: VSP_039350

9606:OVOL1
gene id: 9606:OVOL1
uniprot id: O14753
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
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 2
up seq anno comments: C2H2-type 3
up seq anno comments: C2H2-type 4
up seq anno comments: Putative transcription factor Ovo-like 1
up seq anno feature ids: PRO_0000047011

9606:C2orf66
gene id: 9606:C2orf66
uniprot id: Q6UXQ4
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno labels: Signal Peptide
up seq anno comments: Uncharacterized protein C2orf66
up seq anno feature ids: PRO_0000317179

9606:TMEM135
gene id: 9606:TMEM135
uniprot id: Q86UB9
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 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 isoform 2.
up seq anno comments: Transmembrane protein 135
up seq anno feature ids: PRO_0000284622
up seq anno feature ids: VAR_031787
up seq anno feature ids: VAR_031788
up seq anno feature ids: VAR_031789
up seq anno feature ids: VSP_024579

9606:KIR2DS4
gene id: 9606:KIR2DS4
uniprot id: A0A0C4ZN30
uniprot id: A0A1W2PR63
uniprot id: P43632
uniprot id: Q86VI6
uniprot id: Q8NHJ0
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: Secondary Structure
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: 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 comments: Basic and acidic residues
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: Killer cell immunoglobulin-like receptor 2DS4
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: ig
up seq anno comments: ig domain-containing protein
up seq anno feature ids: PRO_0000015085
up seq anno feature ids: PRO_5004300508
up seq anno feature ids: PRO_5010697950
up seq anno feature ids: PRO_5014019457
up seq anno feature ids: VAR_049980
up seq anno feature ids: VAR_049981
up seq anno feature ids: VAR_049982
up seq anno feature ids: VAR_049983
up seq anno feature ids: VAR_049984
up seq anno feature ids: VAR_049985
up seq anno feature ids: VAR_049986
up seq anno feature ids: VAR_059423
up seq anno feature ids: VAR_059424
up seq anno feature ids: VAR_059425

9606:DEFB136
gene id: 9606:DEFB136
uniprot id: Q30KP8
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Signal Peptide
up seq anno comments: Defensin beta 136
up seq anno feature ids: PRO_0000045364

9606:TM4SF20
gene id: 9606:TM4SF20
uniprot id: Q53R12
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 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 cleavage of the first 13 residues.
up seq anno comments: Cytoplasmic
up seq anno comments: Helical
up seq anno comments: Inverts transmembrane topology.
up seq anno comments: Inverts transmembrane topology. Induces cleavage of CREB3L1.
up seq anno comments: Lumenal
up seq anno comments: No effect on cleavage of the first 13 residues.
up seq anno comments: No effect on glycosylation upon ceramide treatment.
up seq anno comments: Reduces glycosylation upon ceramide treatment. Abolishes glycosylation upon ceramide treatment; when associated with Q-132 and Q-148.
up seq anno comments: Reduces glycosylation upon ceramide treatment. Abolishes glycosylation upon ceramide treatment; when associated with Q-132 and Q-163.
up seq anno comments: Transmembrane 4 L6 family member 20
up seq anno feature ids: PRO_0000251228
up seq anno feature ids: VAR_027673

9606:ALDH1L1
gene id: 9606:ALDH1L1
uniprot id: O75891
uniprot id: Q53H87
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: Secondary Structure
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: 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: Carrier
up seq anno comments: Cytosolic 10-formyltetrahydrofolate dehydrogenase
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: Loss of phosphopantetheinylation by AASDHPPT. Loss of formyltetrahydrofolate dehydrogenase activity.
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-succinyllysine
up seq anno comments: O-(pantetheine 4'-phosphoryl)serine
up seq anno comments: Phosphoserine
up seq anno comments: Proton acceptor
up seq anno comments: Proton donor
up seq anno feature ids: PRO_0000199419
up seq anno feature ids: VAR_036101
up seq anno feature ids: VAR_052290
up seq anno feature ids: VAR_052291
up seq anno feature ids: VAR_052292
up seq anno feature ids: VAR_052293
up seq anno feature ids: VAR_052295
up seq anno feature ids: VAR_052296
up seq anno feature ids: VAR_052297
up seq anno feature ids: VAR_052298
up seq anno feature ids: VAR_052299
up seq anno feature ids: VSP_045569
up seq anno feature ids: VSP_047260
up seq anno feature ids: VSP_057429
up seq anno feature ids: VSP_057430

9606:PPP1R3A
gene id: 9606:PPP1R3A
uniprot id: Q16821
up 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 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: 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: Helical
up seq anno comments: In NIDDM.
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:USP8
gene id: 9606:USP8
uniprot id: A0A024R5S4
uniprot id: A8K8N5
uniprot id: P40818
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: Secondary Structure
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: 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: Basic and acidic residues
up seq anno comments: Found in a patient with spastic paraplegia; unknown pathological significance.
up seq anno comments: Impairs deubiquitination activity and leads to endosome membrane accumulation.
up seq anno comments: In PITA4; somatic mutation; unknown pathological significance.
up seq anno comments: In PITA4; somatic mutation; unknown pathological significance; localizes to nucleus instead of cytoplasm.
up seq anno comments: In isoform 2.
up seq anno comments: MIT
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: Pro residues
up seq anno comments: Proton acceptor
up seq anno comments: Rhodanese
up seq anno comments: SH3-binding
up seq anno comments: USP
up seq anno comments: Ubiquitin carboxyl-terminal hydrolase 8
up seq anno feature ids: PRO_0000080627
up seq anno feature ids: VAR_017796
up seq anno feature ids: VAR_017797
up seq anno feature ids: VAR_051525
up seq anno feature ids: VAR_077850
up seq anno feature ids: VAR_079717
up seq anno feature ids: VAR_079718
up seq anno feature ids: VAR_079719
up seq anno feature ids: VAR_079720
up seq anno feature ids: VAR_079721
up seq anno feature ids: VSP_054594
up seq anno feature ids: VSP_054595

9606:ARL13B
gene id: 9606:ARL13B
uniprot id: A0A7P0T892
uniprot id: Q3SXY8
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: 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: Lipid Binding
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: ADP-ribosylation factor-like protein 13B
up seq anno comments: Abolishes sumoylation. Abolishes sumoylation; when associated with R-231; R-270; R-275; R-276 and R-279.
up seq anno comments: Basic and acidic residues
up seq anno comments: Does not affect localization to cilia.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
up seq anno comments: In JBTS8.
up seq anno comments: In JBTS8; reduces binding to GTP.
up seq anno comments: In JBTS8; the patient also manifests obesity as a feature; decreased localization to cilium.
up seq anno comments: In a nephronophthisis (NPHP) patient.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: No effect. Abolishes sumoylation; when associated with R-231; R-270; R-275; R-276 and R-329.
up seq anno comments: No effect. Abolishes sumoylation; when associated with R-231; R-270; R-275; R-279 and R-329.
up seq anno comments: No effect. Abolishes sumoylation; when associated with R-231; R-270; R-276; R-279 and R-329.
up seq anno comments: No effect. Abolishes sumoylation; when associated with R-231; R-275; R-276; R-279 and R-329.
up seq anno comments: No effect. Abolishes sumoylation; when associated with R-270; R-275; R-276; R-279 and R-329.
up seq anno comments: Pro residues
up seq anno comments: S-palmitoyl cysteine
up seq anno feature ids: PRO_0000251137
up seq anno feature ids: VAR_048319
up seq anno feature ids: VAR_054371
up seq anno feature ids: VAR_054372
up seq anno feature ids: VAR_069190
up seq anno feature ids: VAR_077496
up seq anno feature ids: VSP_020733
up seq anno feature ids: VSP_045421

9606:HELB
gene id: 9606:HELB
uniprot id: Q8NG08
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 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: 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: 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:CD47
gene id: 9606:CD47
uniprot id: A0A0A1TSG4
uniprot id: Q08722
up 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 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: 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: Ig-like V-type
up seq anno comments: In isoform OA3-293.
up seq anno comments: In isoform OA3-305.
up seq anno comments: In isoform OA3-312.
up seq anno comments: Leukocyte surface antigen CD47
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Pyrrolidone carboxylic acid
up seq anno feature ids: PRO_0000014880
up seq anno feature ids: PRO_5001990366
up seq anno feature ids: VSP_002535
up seq anno feature ids: VSP_002536
up seq anno feature ids: VSP_002537
up seq anno feature ids: VSP_002538

9606:MCMBP
gene id: 9606:MCMBP
uniprot id: A0A0S2Z5P5
uniprot id: Q9BTE3
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 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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: Mini-chromosome maintenance complex-binding protein
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000089827
up seq anno feature ids: VSP_014707
up seq anno feature ids: VSP_040721

9606:SEPTIN1
gene id: 9606:SEPTIN1
uniprot id: J3KNL2
uniprot id: Q8WYJ6
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: Secondary Structure
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: 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 comments: Great reduction in phosphorylation.
up seq anno comments: In isoform 2.
up seq anno comments: No effect on phosphorylation.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by AURKB
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Septin-1
up seq anno comments: Septin-type G
up seq anno feature ids: PRO_0000173513
up seq anno feature ids: VAR_051934
up seq anno feature ids: VSP_038269
up seq anno feature ids: VSP_038270

9606:FNDC11
gene id: 9606:FNDC11
uniprot id: Q9BVV2
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: Fibronectin type III domain-containing protein 11
up seq anno comments: Fibronectin type-III
up seq anno feature ids: PRO_0000232867

9606:SYNPO
gene id: 9606:SYNPO
uniprot id: Q8N3V7
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 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: Motif
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
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: N-linked (GlcNAc...) asparagine
up seq anno comments: PPxY motif
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: Synaptopodin
up seq anno feature ids: PRO_0000187670
up seq anno feature ids: VSP_010476
up seq anno feature ids: VSP_010477

9606:MRAS
gene id: 9606:MRAS
uniprot id: O14807
uniprot id: Q6FGP0
uniprot id: Q8WVM9
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: Site
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: Non-terminal Residue
up seq anno labels: Propeptide
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
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:SNAPC1
gene id: 9606:SNAPC1
uniprot id: Q16533
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno comments: Phosphoserine
up seq anno comments: snRNA-activating protein complex subunit 1
up seq anno feature ids: PRO_0000072017

9606:ALG2
gene id: 9606:ALG2
uniprot id: A0A024R184
uniprot id: Q9H553
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 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: Alpha-1,3/1,6-mannosyltransferase ALG2
up seq anno comments: Glyco_trans_4-like_N
up seq anno comments: Glycos_transf_1
up seq anno comments: Helical
up seq anno comments: In CMS14; shows severely reduced expression of the mutant protein.
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000080260
up seq anno feature ids: VAR_049351
up seq anno feature ids: VAR_049352
up seq anno feature ids: VAR_073332
up seq anno feature ids: VSP_013188
up seq anno feature ids: VSP_013189

9606:ZNF71
gene id: 9606:ZNF71
uniprot id: Q9NQZ8
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
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
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: Endothelial zinc finger protein induced by tumor necrosis factor alpha
up seq anno feature ids: PRO_0000047381
up seq anno feature ids: VAR_024196
up seq anno feature ids: VAR_052762
up seq anno feature ids: VAR_052763

9606:NHS
gene id: 9606:NHS
uniprot id: Q6T4R5
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Actin remodeling regulator NHS
up seq anno comments: Basic and acidic residues
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 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 feature ids: PRO_0000096810
up seq anno feature ids: VAR_021527
up seq anno feature ids: VAR_021528
up seq anno feature ids: VAR_036225
up seq anno feature ids: VAR_051234
up seq anno feature ids: VAR_076261
up seq anno feature ids: VAR_076438
up seq anno feature ids: VSP_046537
up seq anno feature ids: VSP_046538
up seq anno feature ids: VSP_046539
up seq anno feature ids: VSP_046540
up seq anno feature ids: VSP_046541

9606:LRG1
gene id: 9606:LRG1
uniprot id: P02750
uniprot id: Q68CK4
up 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 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 Variant
up seq anno labels: Signal Peptide
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: LRRCT
up seq anno comments: Leucine-rich alpha-2-glycoprotein
up seq anno comments: N-linked (GlcNAc...) (complex) asparagine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: O-linked (GalNAc...) threonine
up seq anno feature ids: PRO_0000020579
up seq anno feature ids: PRO_5010141389
up seq anno feature ids: VAR_024245
up seq anno feature ids: VAR_050629

9606:FAM131A
gene id: 9606:FAM131A
uniprot id: Q6UXB0
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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 1.
up seq anno comments: In isoform 2.
up seq anno comments: Protein FAM131A
up seq anno feature ids: PRO_0000243932
up seq anno feature ids: VAR_036118
up seq anno feature ids: VSP_059988
up seq anno feature ids: VSP_059989

9606:DUSP5
gene id: 9606:DUSP5
uniprot id: Q16690
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: Site
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: Motif
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno comments: Dual specificity protein phosphatase 5
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphocysteine intermediate
up seq anno comments: Rhodanese
up seq anno comments: Tyrosine-protein phosphatase
up seq anno feature ids: PRO_0000094802
up seq anno feature ids: VAR_020298
up seq anno feature ids: VAR_047368
up seq anno feature ids: VAR_059777
up seq anno feature ids: VAR_059778

9606:RTN4RL1
gene id: 9606:RTN4RL1
uniprot id: Q86UN2
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 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: Propeptide
up seq anno labels: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno comments: Basic residues
up seq anno comments: GPI-anchor amidated serine
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: LRRCT
up seq anno comments: LRRNT
up seq anno comments: Removed in mature form
up seq anno comments: Reticulon-4 receptor-like 1
up seq anno feature ids: PRO_0000046042
up seq anno feature ids: PRO_0000046043

9606:GPR85
gene id: 9606:GPR85
uniprot id: A4D0T8
uniprot id: P60893
uniprot id: Q8NEN2
up 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 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: Found in a patient with autism spectrum disorder; unknown pathological significance; induces response to endoplasmic reticulum stress; negative regulation of dendrite morphogenesis.
up seq anno comments: G_PROTEIN_RECEP_F1_2
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 85
up seq anno feature ids: PRO_0000069591
up seq anno feature ids: VAR_074204
up seq anno feature ids: VAR_074205

9606:PLA2G4C
gene id: 9606:PLA2G4C
uniprot id: A0A024QZH0
uniprot id: Q9UP65
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: Site
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: 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: 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:CPA2
gene id: 9606:CPA2
uniprot id: P48052
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: Secondary Structure
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: 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: Strand
up seq anno labels: Turn
up seq anno comments: Activation peptide
up seq anno comments: Carboxypeptidase A2
up seq anno comments: Proton donor/acceptor
up seq anno feature ids: PRO_0000004353
up seq anno feature ids: PRO_0000004354
up seq anno feature ids: VAR_031204

9606:PTGR3
gene id: 9606:PTGR3
uniprot id: Q4G1C4
uniprot id: Q8N4Q0
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: Secondary Structure
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: 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:MPRIP
gene id: 9606:MPRIP
uniprot id: Q6WCQ1
uniprot id: Q8N236
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 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: 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: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: Myosin phosphatase Rho-interacting protein
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 comments: Removed
up seq anno feature ids: PRO_0000223930
up seq anno feature ids: VAR_051203
up seq anno feature ids: VSP_051947
up seq anno feature ids: VSP_051948

9606:HNRNPCL3
gene id: 9606:HNRNPCL3
uniprot id: B7ZW38
uniprot id: P0DMR1
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: Domain Extent
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Heterogeneous nuclear ribonucleoprotein C-like 3
up seq anno comments: Heterogeneous nuclear ribonucleoprotein C-like 4
up seq anno comments: Polar residues
up seq anno comments: RRM
up seq anno feature ids: PRO_0000431379
up seq anno feature ids: PRO_0000431380

9606:SLC24A5
gene id: 9606:SLC24A5
uniprot id: Q71RS6
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
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 SHEP4; greatly reduced exchange activity.
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=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: Sodium/potassium/calcium exchanger 5
up seq anno feature ids: PRO_0000045753
up seq anno feature ids: VAR_024922
up seq anno feature ids: VSP_047596

9606:TPI1
gene id: 9606:TPI1
uniprot id: P60174
uniprot id: Q53HE2
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: Secondary Structure
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: 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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 3'-nitrotyrosine
up seq anno comments: Electrophile
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)
up seq anno comments: In Manchester; thermolabile.
up seq anno comments: In TPID.
up seq anno comments: In TPID; Hungary; thermolabile.
up seq anno comments: In TPID; no effect on triose-phosphate isomerase activity; changed protein homodimerization activity; the homodimer stability is temperature-dependent and affects the triose-phosphate isomerase activity.
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-acetyllysine; alternate
up seq anno comments: N6-methyllysine; 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: Proton acceptor
up seq anno comments: Removed
up seq anno comments: Triosephosphate isomerase
up seq anno feature ids: PRO_0000090113
up seq anno feature ids: VAR_007534
up seq anno feature ids: VAR_007535
up seq anno feature ids: VAR_007536
up seq anno feature ids: VAR_007537
up seq anno feature ids: VAR_007538
up seq anno feature ids: VAR_007539
up seq anno feature ids: VAR_007540
up seq anno feature ids: VAR_007541
up seq anno feature ids: VSP_060721
up seq anno feature ids: VSP_060722

9606:RABGEF1
gene id: 9606:RABGEF1
uniprot id: A0A024RDL6
uniprot id: A8K3R3
uniprot id: B3KMF1
uniprot id: Q9UJ41
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: Secondary Structure
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: 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 labels: Zinc Finger
up seq anno comments: A20-type
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: Polar residues
up seq anno comments: Rab5 GDP/GTP exchange factor
up seq anno comments: Reduces affinity for ubiquitin 3-fold.
up seq anno comments: Strongly reduced activity.
up seq anno comments: VPS9
up seq anno feature ids: PRO_0000191315
up seq anno feature ids: VSP_060130
up seq anno feature ids: VSP_060131

9606:ND3
gene id: 9606:ND3
uniprot id: P03897
uniprot id: Q7GXZ5
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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: In LS and MC1DM1.
up seq anno comments: In LS; unknown pathological significance; decrease in enzyme activity.
up seq anno comments: In MC1DM1.
up seq anno comments: NADH-ubiquinone oxidoreductase chain 3
up seq anno feature ids: PRO_0000117752
up seq anno feature ids: VAR_008391
up seq anno feature ids: VAR_008392
up seq anno feature ids: VAR_008598
up seq anno feature ids: VAR_035091
up seq anno feature ids: VAR_035092
up seq anno feature ids: VAR_064564
up seq anno feature ids: VAR_084384

9606:RYR1
gene id: 9606:RYR1
uniprot id: P21817
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: Secondary Structure
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: 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: 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: 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: 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 CCD and MHS1.
up seq anno comments: In CCD and MHS1; 2-3% of the cases; increases calcium-induced calcium release activity.
up seq anno comments: In CCD and MHS1; 3-5% of the cases; increases calcium-induced calcium release activity.
up seq anno comments: In CCD and MHS1; increases calcium-induced calcium release activity.
up seq anno comments: In CCD 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 CCD and MHS1; release of calcium from intracellular stores in the absence of any pharmacological activator of RYR.
up seq anno comments: In CCD.
up seq anno comments: In CCD; autosomal recessive form.
up seq anno comments: In CCD; increases sensitivity to caffeine and 4-chloro-m-cresol.
up seq anno comments: In CCD; 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 CCD; severe phenotype.
up seq anno comments: In CCD; unknown pathological significance.
up seq anno comments: In KDS.
up seq anno comments: In KDS; unknown pathological significance.
up seq anno comments: In MHS1 and CCD; autosomal recessive form.
up seq anno comments: In MHS1 and KDS.
up seq anno comments: In MHS1, CCD and KDS; increases sensitivity to caffeine and 4-chloro-m-cresol; increases calcium-induced calcium release activity.
up seq anno comments: In MHS1.
up seq anno comments: In MHS1; 10% of the cases; increases calcium-induced calcium release activity.
up seq anno comments: In MHS1; has increased sensitivity to both caffeine and halothane.
up seq anno comments: In MHS1; increases calcium-induced calcium release activity.
up seq anno comments: In MHS1; increases sensitivity to caffeine and 4-chloro-m-cresol; increases calcium-induced calcium release activity.
up seq anno comments: In MHS1; induces an increase sensitivity to caffeine.
up seq anno comments: In MHS1; induces an increase sensitivity to caffeine; increases calcium-induced calcium release activity.
up seq anno comments: In MHS1; requires 2 nucleotide substitutions; unknown pathological significance.
up seq anno comments: In MHS1; reveals an altered calcium dependence and increased caffeine sensitivity; increases calcium-induced calcium release activity.
up seq anno comments: In MHS1; severe form; increases calcium-induced calcium release activity.
up seq anno comments: In MHS1; unknown pathological significance.
up seq anno comments: In MHS1; unknown pathological significance; increases calcium-induced calcium release activity.
up seq anno comments: In MHS1; unknown pathological significance; slightly increases Ca(2+) release in response to 4-chloro-m-cresol.
up seq anno comments: In MMDO and CCD; autosomal recessive form.
up seq anno comments: In MMDO.
up seq anno comments: In core/rod disease.

9606:NUDT21
gene id: 9606:NUDT21
uniprot id: A0A024R6W2
uniprot id: O43809
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 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: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes acetylation.
up seq anno comments: Abolishes interaction with CPSF6; when associated with A-158.
up seq anno comments: Abolishes interaction with CPSF6; when associated with A-160.
up seq anno comments: Cleavage and polyadenylation specificity factor subunit 5
up seq anno comments: N-acetylserine
up seq anno comments: N6-acetyllysine
up seq anno comments: No effect on acetylation.
up seq anno comments: Nudix box
up seq anno comments: Nudix hydrolase
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphotyrosine
up seq anno comments: Reduces affinity for UGUA RNA by 12%.
up seq anno comments: Reduces affinity for UGUA RNA by 50%.
up seq anno comments: Reduces affinity for UGUA RNA by 88%.
up seq anno comments: Reduces affinity for UGUA RNA by 99%.
up seq anno comments: Reduces affinity for UGUA RNA by over 90%.
up seq anno comments: Reduces interactions with CPSF6 and CPSF7 and decreases mRNA 3'-processing activity.
up seq anno comments: Removed
up seq anno feature ids: PRO_0000057150

9606:DGKA
gene id: 9606:DGKA
uniprot id: A0A024RB23
uniprot id: P23743
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: Secondary Structure
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: 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 labels: Zinc Finger
up seq anno comments: Binds calcium but with decreased affinity.
up seq anno comments: DAGKc
up seq anno comments: Diacylglycerol kinase alpha
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 isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of calcium-binding.
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 feature ids: PRO_0000218453
up seq anno feature ids: VAR_031563
up seq anno feature ids: VSP_032212
up seq anno feature ids: VSP_032213
up seq anno feature ids: VSP_047702
up seq anno feature ids: VSP_047703

9606:APRT
gene id: 9606:APRT
uniprot id: P07741
up 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 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:YARS2
gene id: 9606:YARS2
uniprot id: Q9Y2Z4
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: Secondary Structure
up seq anno parent labels: 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: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: 'HIGH' region
up seq anno comments: 'KMSKS' region
up seq anno comments: In MLASA2.
up seq anno comments: In MLASA2; has a 2-fold reduction in catalytic activity and a reduction in affinity for tRNA-tyr resulting in an overall 9-fold loss of catalytic efficiency.
up seq anno comments: Loss of tRNA ligase activity.
up seq anno comments: Mildly decreased tRNA ligase activity.
up seq anno comments: Mitochondrion
up seq anno comments: N6-acetyllysine
up seq anno comments: Tyrosine--tRNA ligase, mitochondrial
up seq anno feature ids: PRO_0000035830
up seq anno feature ids: VAR_034534
up seq anno feature ids: VAR_064188
up seq anno feature ids: VAR_068646

9606:NUTM2G
gene id: 9606:NUTM2G
uniprot id: Q5VZR2
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: In isoform 2.
up seq anno comments: NUT family member 2G
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000266034
up seq anno feature ids: VSP_034023
up seq anno feature ids: VSP_034024

9606:IFI27
gene id: 9606:IFI27
uniprot id: P40305
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 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: 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: Increased pro-apoptotic activity; when associated with D-56.
up seq anno comments: Increased pro-apoptotic activity; when associated with D-96.
up seq anno comments: Interferon alpha-inducible protein 27, mitochondrial
up seq anno comments: Mitochondrion
up seq anno feature ids: PRO_0000147372
up seq anno feature ids: VAR_028066
up seq anno feature ids: VSP_059907
up seq anno feature ids: VSP_059908
up seq anno feature ids: VSP_059909

9606:CMC1
gene id: 9606:CMC1
uniprot id: Q7Z7K0
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 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 labels: Sequence Conflict
up seq anno comments: CHCH
up seq anno comments: COX assembly mitochondrial protein homolog
up seq anno comments: Cx9C motif 1
up seq anno comments: Cx9C motif 2
up seq anno comments: N-acetylalanine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000317185

9606:PRKAA1
gene id: 9606:PRKAA1
uniprot id: Q13131
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: Secondary Structure
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: 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: 5'-AMP-activated protein kinase catalytic subunit alpha-1
up seq anno comments: Activates the kinase activity.
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: Phosphoserine; by ULK1
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by LKB1 and CaMKK2
up seq anno comments: Phosphothreonine; by ULK1
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000085589
up seq anno feature ids: VAR_035622
up seq anno feature ids: VAR_058401
up seq anno feature ids: VSP_035431

9606:SRPK3
gene id: 9606:SRPK3
uniprot id: Q9UPE1
up 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: 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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic residues
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: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: SRSF protein kinase 3
up seq anno feature ids: PRO_0000086709
up seq anno feature ids: VAR_041119
up seq anno feature ids: VAR_041120
up seq anno feature ids: VAR_041121
up seq anno feature ids: VSP_040939
up seq anno feature ids: VSP_040940
up seq anno feature ids: VSP_040941

9606:CCDC192
gene id: 9606:CCDC192
uniprot id: P0DO97
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 comments: Coiled-coil domain-containing protein 192
up seq anno feature ids: PRO_0000436441

9606:PEX16
gene id: 9606:PEX16
uniprot id: Q9Y5Y5
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 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: Helical
up seq anno comments: In PBD8B.
up seq anno comments: In isoform 2.
up seq anno comments: Peroxisomal
up seq anno comments: Peroxisomal membrane protein PEX16
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:NDUFA13
gene id: 9606:NDUFA13
uniprot id: Q9P0J0
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 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: Transmembrane
up seq anno comments: Helical
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:LDLRAD4
gene id: 9606:LDLRAD4
uniprot id: A0A7I2V575
uniprot id: O15165
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 labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
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: Cytoplasmic
up seq anno comments: Helical
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6 and isoform 7.
up seq anno comments: In isoform 8.
up seq anno comments: In isoform Alpha-2, isoform Beta-2 and isoform 7.
up seq anno comments: In isoform Beta-1 and isoform Beta-2.
up seq anno comments: LDL-receptor class A
up seq anno comments: Low-density lipoprotein receptor class A domain-containing protein 4
up seq anno comments: Lumenal
up seq anno comments: PPxY motif 1
up seq anno comments: PPxY motif 2
up seq anno comments: SMAD interaction motif (SIM)
up seq anno feature ids: PRO_0000185444
up seq anno feature ids: VSP_006439
up seq anno feature ids: VSP_006440
up seq anno feature ids: VSP_013901
up seq anno feature ids: VSP_043253
up seq anno feature ids: VSP_054772

9606:C9orf43
gene id: 9606:C9orf43
uniprot id: A0A024R879
uniprot id: B2R9P8
uniprot id: B4DX97
uniprot id: Q8TAL5
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Sequence Variant
up seq anno comments: Polar residues
up seq anno comments: Uncharacterized protein C9orf43
up seq anno feature ids: PRO_0000089692
up seq anno feature ids: VAR_061597

9606:SUCLA2
gene id: 9606:SUCLA2
uniprot id: E5KS60
uniprot id: Q9P2R7
uniprot id: Q9Y4T0
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: Secondary Structure
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: 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 labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: ATP-grasp
up seq anno comments: In MTDPS5.
up seq anno comments: In isoform 2.
up seq anno comments: Ligase_CoA
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: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial
up seq anno feature ids: PRO_0000033352
up seq anno feature ids: VAR_013459
up seq anno feature ids: VAR_046214
up seq anno feature ids: VAR_046215
up seq anno feature ids: VAR_046216
up seq anno feature ids: VAR_070123
up seq anno feature ids: VSP_006292

9606:OR2M2
gene id: 9606:OR2M2
uniprot id: A0A126GWI7
uniprot id: Q96R28
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 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_RECEP_F1_2
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 2M2
up seq anno feature ids: PRO_0000150491
up seq anno feature ids: VAR_034179
up seq anno feature ids: VAR_059990
up seq anno feature ids: VAR_059991
up seq anno feature ids: VAR_062026

9606:EOLA1
gene id: 9606:EOLA1
uniprot id: Q8TE69
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 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: ASCH
up seq anno comments: In isoform 2.
up seq anno comments: Protein EOLA1
up seq anno feature ids: PRO_0000079740
up seq anno feature ids: VSP_047240

9606:SLC17A3
gene id: 9606:SLC17A3
uniprot id: A0A024QZX7
uniprot id: O00476
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 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: 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 a patient with gout; does not affect isoform 2 localization at the cell membrane; results in reduced urate efflux.
up seq anno comments: Found in a patient with hyperuricemia; decreased expression of isoform 2 at the cell membrane; results in highly reduced urate efflux.
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: MFS
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: Sodium-dependent phosphate transport protein 4
up seq anno feature ids: PRO_0000351138
up seq anno feature ids: VAR_024533
up seq anno feature ids: VAR_034700
up seq anno feature ids: VAR_046633
up seq anno feature ids: VAR_068680
up seq anno feature ids: VAR_068681
up seq anno feature ids: VSP_042888

9606:KYNU
gene id: 9606:KYNU
uniprot id: Q16719
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: Secondary Structure
up seq anno parent labels: Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Mass
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 HYXKY; reduced 3-hydroxykynureninase activity.
up seq anno comments: In VCRL2; strongly reduced 3-hydroxykynureninase activity.
up seq anno comments: In isoform 2.
up seq anno comments: Kynureninase
up seq anno comments: N-acetylmethionine
up seq anno comments: N6-(pyridoxal phosphate)lysine
up seq anno comments: The reported mass is given to only three significant figures.
up seq anno feature ids: PRO_0000218657
up seq anno feature ids: VAR_022092
up seq anno feature ids: VAR_049724
up seq anno feature ids: VAR_054401
up seq anno feature ids: VAR_080254
up seq anno feature ids: VSP_042739
up seq anno feature ids: VSP_042740

9606:HDHD2
gene id: 9606:HDHD2
uniprot id: Q9H0R4
up 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: Site
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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Haloacid dehalogenase-like hydrolase domain-containing protein 2
up seq anno comments: In isoform 2.
up seq anno comments: N6-succinyllysine
up seq anno feature ids: PRO_0000287203
up seq anno feature ids: VAR_032289
up seq anno feature ids: VSP_025373

9606:BTBD2
gene id: 9606:BTBD2
uniprot id: Q9BX70
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 labels: Chain
up seq anno labels: Domain Extent
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: In isoform 2.
up seq anno feature ids: PRO_0000186210
up seq anno feature ids: VSP_010562

9606:RASSF9
gene id: 9606:RASSF9
uniprot id: O75901
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Polar residues
up seq anno comments: Ras association domain-containing protein 9
up seq anno comments: Ras-associating
up seq anno feature ids: PRO_0000299452
up seq anno feature ids: VAR_034820

9606:OR51B4
gene id: 9606:OR51B4
uniprot id: Q9Y5P0
up 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 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 51B4
up seq anno feature ids: PRO_0000150746
up seq anno feature ids: VAR_024141
up seq anno feature ids: VAR_030348

9606:ZNF316
gene id: 9606:ZNF316
uniprot id: A6NFI3
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: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Zinc Finger
up seq anno comments: 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 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; degenerate
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: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno comments: Zinc finger protein 316
up seq anno feature ids: PRO_0000348942

9606:GDF15
gene id: 9606:GDF15
uniprot id: Q99988
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: Secondary Structure
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: 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 labels: Turn
up seq anno comments: Abolishes interaction with GFRAL. Abolishes RET phosphorylation and cellular signaling mediated by GFRAL and RET.
up seq anno comments: Growth/differentiation factor 15
up seq anno comments: Interchain
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No effect on interaction with GFRAL. Attenuates GDF15-mediated food-intake inhibition.
up seq anno comments: Polar residues
up seq anno comments: Reduces cellular signaling mediated by GFRAL and RET.
up seq anno comments: Reduces cellular signaling mediated by GFRAL and RET. Abolishes interaction with GFRAL and GDF15-mediated food-intake inhibition.
up seq anno feature ids: PRO_0000033992
up seq anno feature ids: PRO_0000033993
up seq anno feature ids: VAR_010386
up seq anno feature ids: VAR_047646
up seq anno feature ids: VAR_047647

9606:SLC1A1
gene id: 9606:SLC1A1
uniprot id: P43005
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: Secondary Structure
up seq anno parent labels: 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: INTRAMEM
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: 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 3
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 DCBXA; inhibits L-glutamate and L-cysteine transport activities.
up seq anno comments: In DCBXA; reduces L-glutamate and L-cysteine transport activities; reduces cell membrane expression.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000202065
up seq anno feature ids: VAR_023308
up seq anno feature ids: VAR_023309
up seq anno feature ids: VAR_071953
up seq anno feature ids: VAR_071954

9606:KLF2
gene id: 9606:KLF2
uniprot id: Q9Y5W3
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Zinc Finger
up seq anno comments: 9aaTAD
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: Krueppel-like factor 2
up seq anno comments: Phosphothreonine
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000047162
up seq anno feature ids: VAR_038830
up seq anno feature ids: VAR_038831

9606:RGR
gene id: 9606:RGR
uniprot id: A0A0S2Z494
uniprot id: A0A0S2Z498
uniprot id: P47804
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 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: 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_RECEP_F1_2
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 RP44.
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: N6-(retinylidene)lysine
up seq anno comments: RPE-retinal G protein-coupled receptor
up seq anno feature ids: PRO_0000197822
up seq anno feature ids: VAR_017034
up seq anno feature ids: VAR_017055
up seq anno feature ids: VAR_017056
up seq anno feature ids: VAR_017057
up seq anno feature ids: VAR_017058
up seq anno feature ids: VSP_003773
up seq anno feature ids: VSP_038387

9606:HDLBP
gene id: 9606:HDLBP
uniprot id: A0A024R4E5
uniprot id: B2R5V9
uniprot id: Q00341
up 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 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: 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: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: KH
up seq anno comments: KH 1
up seq anno comments: KH 10
up seq anno comments: KH 11
up seq anno comments: KH 12
up seq anno comments: KH 13
up seq anno comments: KH 14
up seq anno comments: KH 2
up seq anno comments: KH 3
up seq anno comments: KH 4
up seq anno comments: KH 5
up seq anno comments: KH 6
up seq anno comments: KH 7
up seq anno comments: KH 8
up seq anno comments: KH 9
up seq anno comments: N-acetylserine
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: Removed
up seq anno comments: Vigilin
up seq anno feature ids: PRO_0000050131
up seq anno feature ids: VAR_024511
up seq anno feature ids: VAR_029279
up seq anno feature ids: VAR_036052
up seq anno feature ids: VAR_036053
up seq anno feature ids: VAR_047976
up seq anno feature ids: VAR_055981
up seq anno feature ids: VSP_044924
up seq anno feature ids: VSP_044925

9606:APOD
gene id: 9606:APOD
uniprot id: P05090
up 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 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: Strand
up seq anno comments: Apolipoprotein D
up seq anno comments: Interchain (with C-29 in APOA2)
up seq anno comments: N-linked (GlcNAc...) (complex) asparagine
up seq anno comments: Pyrrolidone carboxylic acid
up seq anno feature ids: PRO_0000017872
up seq anno feature ids: VAR_011931
up seq anno feature ids: VAR_011932
up seq anno feature ids: VAR_011933

9606:TGFBRAP1
gene id: 9606:TGFBRAP1
uniprot id: Q8WUH2
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 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: CHCR
up seq anno comments: CNH
up seq anno comments: Transforming growth factor-beta receptor-associated protein 1
up seq anno feature ids: PRO_0000345405
up seq anno feature ids: VAR_045822

9606:CCDC83
gene id: 9606:CCDC83
uniprot id: Q8IWF9
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 labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased 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 83
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno feature ids: PRO_0000288881
up seq anno feature ids: VAR_032525
up seq anno feature ids: VSP_025808
up seq anno feature ids: VSP_025809
up seq anno feature ids: VSP_025810
up seq anno feature ids: VSP_025811

9606:CSRNP2
gene id: 9606:CSRNP2
uniprot id: Q9H175
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno comments: Cysteine/serine-rich nuclear protein 2
up seq anno comments: N-acetylmethionine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000114790
up seq anno feature ids: VAR_053016

9606:UTP6
gene id: 9606:UTP6
uniprot id: Q9NYH9
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno comments: HAT 1
up seq anno comments: HAT 2
up seq anno comments: HAT 3
up seq anno comments: HAT 4
up seq anno comments: HAT 5
up seq anno comments: U3 small nucleolar RNA-associated protein 6 homolog
up seq anno feature ids: PRO_0000205754
up seq anno feature ids: VAR_026668
up seq anno feature ids: VAR_031222
up seq anno feature ids: VAR_049322

9606:ATP2B1
gene id: 9606:ATP2B1
uniprot id: A0A024RBC7
uniprot id: P20020
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: 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: 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: 4-aspartylphosphate intermediate
up seq anno comments: Basic and acidic residues
up seq anno comments: Cation_ATPase_N
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
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: 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 feature ids: PRO_0000046209
up seq anno feature ids: VAR_000698
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:OR4S2
gene id: 9606:OR4S2
uniprot id: A0A126GVG1
uniprot id: Q8NH73
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 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_RECEP_F1_2
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 4S2
up seq anno feature ids: PRO_0000150569
up seq anno feature ids: VAR_057547
up seq anno feature ids: VAR_057548

9606:LY6G6F
gene id: 9606:LY6G6F
uniprot id: A0A1L6Z9Z3
uniprot id: Q5SQ64
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 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: 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
up seq anno comments: Ig-like V-type
up seq anno comments: In isoform 2.
up seq anno comments: Lymphocyte antigen 6 complex locus protein G6f
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No phosphorylation. No interaction with GRB2 and GRB7. No phosphorylation increase of p42/44 MAP kinase.
up seq anno comments: Phosphotyrosine
up seq anno feature ids: PRO_0000318923
up seq anno feature ids: PRO_5014272368
up seq anno feature ids: VAR_038908
up seq anno feature ids: VAR_038909
up seq anno feature ids: VAR_038910
up seq anno feature ids: VAR_038911
up seq anno feature ids: VSP_055597

9606:ZNF281
gene id: 9606:ZNF281
uniprot id: B3KMX4
uniprot id: Q9Y2X9
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
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: 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; atypical
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
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: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Zinc finger protein 281
up seq anno feature ids: PRO_0000047505
up seq anno feature ids: VAR_035576
up seq anno feature ids: VSP_054815

9606:IFT46
gene id: 9606:IFT46
uniprot id: A0A024R3G9
uniprot id: Q9NQC8
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: In isoform 2.
up seq anno comments: Intraflagellar transport protein 46 homolog
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000085516
up seq anno feature ids: VAR_057533
up seq anno feature ids: VSP_039859

9606:CHCHD6
gene id: 9606:CHCHD6
uniprot id: Q9BRQ6
up 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 labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Disulfide Bond
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: 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: MICOS complex subunit MIC25
up seq anno comments: N-myristoyl glycine
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000129169
up seq anno feature ids: VAR_024412

9606:ADGRA3
gene id: 9606:ADGRA3
uniprot id: Q8IWK6
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 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: 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: Adhesion G protein-coupled receptor A3
up seq anno comments: Cytoplasmic
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: Ig-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: 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: N-linked (GlcNAc...) asparagine
up seq anno comments: PDZ-binding
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000012900
up seq anno feature ids: VAR_033971
up seq anno feature ids: VAR_033972
up seq anno feature ids: VSP_010738
up seq anno feature ids: VSP_010740
up seq anno feature ids: VSP_010741
up seq anno feature ids: VSP_010742
up seq anno feature ids: VSP_010743
up seq anno feature ids: VSP_010744
up seq anno feature ids: VSP_010745
up seq anno feature ids: VSP_010746

9606:ACP7
gene id: 9606:ACP7
uniprot id: Q6ZNF0
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: 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: Acid phosphatase type 7
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000316824

9606:TUBGCP3
gene id: 9606:TUBGCP3
uniprot id: A0A087WU06
uniprot id: B4DYP7
uniprot id: Q96CW5
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: GCP_C_terminal
up seq anno comments: GCP_N_terminal
up seq anno comments: Gamma-tubulin complex component 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: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno feature ids: PRO_0000078118
up seq anno feature ids: VAR_049251
up seq anno feature ids: VSP_001620
up seq anno feature ids: VSP_001621
up seq anno feature ids: VSP_001622
up seq anno feature ids: VSP_001623

9606:PPIG
gene id: 9606:PPIG
uniprot id: Q13427
up 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 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: 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: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2.
up seq anno comments: PPIase cyclophilin-type
up seq anno comments: Peptidyl-prolyl cis-trans isomerase G
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000064150
up seq anno feature ids: VAR_055084
up seq anno feature ids: VAR_055085
up seq anno feature ids: VSP_009662
up seq anno feature ids: VSP_009663

9606:TMEM47
gene id: 9606:TMEM47
uniprot id: A0A024RBY7
uniprot id: Q9BQJ4
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: 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:RTCA
gene id: 9606:RTCA
uniprot id: O00442
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: Site
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:GID8
gene id: 9606:GID8
uniprot id: Q9NWU2
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: Secondary Structure
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: Turn
up seq anno comments: CTLH
up seq anno comments: Glucose-induced degradation protein 8 homolog
up seq anno comments: LisH
up seq anno feature ids: PRO_0000079411

9606:WFDC3
gene id: 9606:WFDC3
uniprot id: Q8IUB2
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 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: N-linked (GlcNAc...) asparagine
up seq anno comments: WAP 1
up seq anno comments: WAP 2
up seq anno comments: WAP 3
up seq anno comments: WAP 4
up seq anno comments: WAP four-disulfide core domain protein 3
up seq anno feature ids: PRO_0000041381
up seq anno feature ids: VAR_052951
up seq anno feature ids: VAR_059962

9606:LHPP
gene id: 9606:LHPP
uniprot id: Q9H008
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: Secondary Structure
up seq anno parent labels: 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: In isoform 2.
up seq anno comments: Phospholysine phosphohistidine inorganic pyrophosphate phosphatase
up seq anno feature ids: PRO_0000305074
up seq anno feature ids: VAR_035163
up seq anno feature ids: VSP_041685
up seq anno feature ids: VSP_041686

9606:KRTAP5-2
gene id: 9606:KRTAP5-2
uniprot id: Q701N4
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
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: Keratin-associated protein 5-2
up seq anno feature ids: PRO_0000184100

9606:NOCT
gene id: 9606:NOCT
uniprot id: Q9UK39
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: Secondary Structure
up seq anno parent labels: 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: 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: Decreased activity as transcriptional repressor.
up seq anno comments: Lack of catalytic activity.
up seq anno comments: Mitochondrion
up seq anno comments: No effect on activity as transcriptional repressor.
up seq anno comments: No effect on catalytic activity.
up seq anno comments: Nocturnin
up seq anno comments: Reduced catalytic activity.
up seq anno comments: Slightly decreased activity as transcriptional repressor.
up seq anno comments: Slightly increased activity as transcriptional repressor. Lack of catalytic activity.
up seq anno feature ids: PRO_0000218568
up seq anno feature ids: VAR_047096

9606:EPB41
gene id: 9606:EPB41
uniprot id: A0A2R8Y7Y3
uniprot id: P11171
uniprot id: Q1WWM3
uniprot id: Q29RX4
uniprot id: Q59F12
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: Secondary Structure
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: 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: FERM
up seq anno comments: In isoform 2, isoform 4, isoform 5 and isoform 6.
up seq anno comments: In isoform 3 and isoform 7.
up seq anno comments: In isoform 3, isoform 4 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 7.
up seq anno comments: Loss of CDK1-mediated phosphorylation. Abolishes targeting onto the mitotic spindle; when associated with A-60.
up seq anno comments: Loss of CDK1-mediated phosphorylation. Abolishes targeting onto the mitotic spindle; when associated with A-712.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CDK1
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by CDK1
up seq anno comments: Phosphotyrosine
up seq anno comments: Phosphotyrosine; by EGFR
up seq anno comments: Polar residues
up seq anno comments: Protein 4.1
up seq anno feature ids: PRO_0000219390
up seq anno feature ids: VAR_009122
up seq anno feature ids: VSP_000468
up seq anno feature ids: VSP_000469
up seq anno feature ids: VSP_000470
up seq anno feature ids: VSP_000471
up seq anno feature ids: VSP_000472
up seq anno feature ids: VSP_000473
up seq anno feature ids: VSP_012872
up seq anno feature ids: VSP_012873

9606:SEMA5B
gene id: 9606:SEMA5B
uniprot id: A0A3B3IRP9
uniprot id: B7Z2B3
uniprot id: C9JKR3
uniprot id: Q9P283
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 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: Helical; Signal-anchor for type III membrane protein
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: N-linked (GlcNAc...) asparagine
up seq anno comments: O-linked (GalNAc...) threonine
up seq anno comments: Sema
up seq anno comments: Semaphorin-5B
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_0000032337
up seq anno feature ids: PRO_5002866681
up seq anno feature ids: PRO_5002996466
up seq anno feature ids: PRO_5017428387
up seq anno feature ids: VAR_037196
up seq anno feature ids: VAR_037197
up seq anno feature ids: VAR_037198
up seq anno feature ids: VAR_037199
up seq anno feature ids: VAR_037200
up seq anno feature ids: VAR_037201
up seq anno feature ids: VAR_037202
up seq anno feature ids: VSP_029462
up seq anno feature ids: VSP_029463
up seq anno feature ids: VSP_029464
up seq anno feature ids: VSP_029465
up seq anno feature ids: VSP_044748

9606:PCDHGA1
gene id: 9606:PCDHGA1
uniprot id: Q9Y5H4
up 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 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: 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: 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:KRTAP6-2
gene id: 9606:KRTAP6-2
uniprot id: Q3LI66
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno comments: Keratin-associated protein 6-2
up seq anno feature ids: PRO_0000223899

9606:TLX2
gene id: 9606:TLX2
uniprot id: O43763
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: Secondary Structure
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: Sequence Conflict
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:SMARCC2
gene id: 9606:SMARCC2
uniprot id: A0A024RB22
uniprot id: F8VXC8
uniprot id: Q8TAQ2
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: Secondary Structure
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: 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: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In CSS8.
up seq anno comments: In CSS8; unknown pathological significance.
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: Myb-like
up seq anno comments: N6-(ADP-ribosyl)lysine
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: SANT
up seq anno comments: SWI/SNF complex subunit SMARCC2
up seq anno comments: SWIRM
up seq anno feature ids: PRO_0000197117
up seq anno feature ids: VAR_082077
up seq anno feature ids: VAR_082078
up seq anno feature ids: VAR_082079
up seq anno feature ids: VAR_082080
up seq anno feature ids: VAR_082081
up seq anno feature ids: VAR_082082
up seq anno feature ids: VAR_082083
up seq anno feature ids: VAR_082084
up seq anno feature ids: VSP_012490
up seq anno feature ids: VSP_012491
up seq anno feature ids: VSP_044647

9606:KDM1B
gene id: 9606:KDM1B
uniprot id: H0Y6H0
uniprot id: Q8NB78
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: Secondary Structure
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: 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 labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: CW-type
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 4.
up seq anno comments: Loss of demethylase activity.
up seq anno comments: Loss of demethylase activity. Defective in the binding of FAD.
up seq anno comments: Lysine-specific histone demethylase 2
up seq anno comments: No effect on DNA or nucleosome binding.
up seq anno comments: Normal demethylase activity.
up seq anno comments: Phosphoserine
up seq anno comments: Reduced demethylase activity.
up seq anno comments: SWIRM
up seq anno comments: Strongly reduced demethylase activity. Loss of enzymatic activity; when associated with 273-G--S-278.
up seq anno comments: Strongly reduced demethylase activity. Loss of enzymatic activity; when associated with 285-A--A-287.
up seq anno feature ids: PRO_0000247336
up seq anno feature ids: VSP_019963
up seq anno feature ids: VSP_019964
up seq anno feature ids: VSP_019965

9606:MRPL2
gene id: 9606:MRPL2
uniprot id: C9IY40
uniprot id: Q5T653
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: 39S ribosomal protein L2, mitochondrial
up seq anno comments: Basic residues
up seq anno comments: Mitochondrion
up seq anno comments: Ribosomal_L2
up seq anno feature ids: PRO_0000261640
up seq anno feature ids: VAR_029470

9606:CSMD2
gene id: 9606:CSMD2
uniprot id: Q7Z408
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 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: CUB 1
up seq anno comments: CUB 10
up seq anno comments: CUB 11
up seq anno comments: CUB 12
up seq anno comments: CUB 13
up seq anno comments: CUB 14
up seq anno comments: CUB 2
up seq anno comments: CUB 3
up seq anno comments: CUB 4
up seq anno comments: CUB 5
up seq anno comments: CUB 6
up seq anno comments: CUB 7
up seq anno comments: CUB 8
up seq anno comments: CUB 9
up seq anno comments: CUB and sushi domain-containing protein 2
up seq anno comments: Cytoplasmic
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 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 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 16
up seq anno comments: Sushi 17
up seq anno comments: Sushi 18
up seq anno comments: Sushi 19
up seq anno comments: Sushi 2
up seq anno comments: Sushi 20
up seq anno comments: Sushi 21
up seq anno comments: Sushi 22
up seq anno comments: Sushi 23
up seq anno comments: Sushi 24
up seq anno comments: Sushi 25
up seq anno comments: Sushi 26
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_0000079405
up seq anno feature ids: VAR_024330
up seq anno feature ids: VAR_028081
up seq anno feature ids: VAR_028082
up seq anno feature ids: VAR_028083
up seq anno feature ids: VAR_028084
up seq anno feature ids: VAR_028085
up seq anno feature ids: VAR_028086
up seq anno feature ids: VAR_050917
up seq anno feature ids: VSP_009038
up seq anno feature ids: VSP_009039
up seq anno feature ids: VSP_009040
up seq anno feature ids: VSP_009041
up seq anno feature ids: VSP_009042
up seq anno feature ids: VSP_009043

9606:GGT6
gene id: 9606:GGT6
uniprot id: B4DKN3
uniprot id: J3KPJ0
uniprot id: Q6P531
uniprot id: Q6ZPD7
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Glutathione hydrolase 6 heavy chain
up seq anno comments: Glutathione hydrolase 6 light chain
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: Polar residues
up seq anno feature ids: PRO_0000314954
up seq anno feature ids: PRO_0000314955
up seq anno feature ids: VAR_038138
up seq anno feature ids: VAR_038139
up seq anno feature ids: VSP_030451

9606:CEBPB
gene id: 9606:CEBPB
uniprot id: P17676
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: Secondary Structure
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: 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: 9aaTAD
up seq anno comments: Asymmetric dimethylarginine; by CARM1
up seq anno comments: CCAAT/enhancer-binding protein beta
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: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of nuclear translocation.
up seq anno comments: Loss of transactivation activity in response to IFNG.
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-acetyllysine; by KAT2A and KAT2B
up seq anno comments: N6-acetyllysine; by KAT2A and KAT2B; alternate
up seq anno comments: N6-methylated lysine; alternate
up seq anno comments: O-linked (GlcNAc) serine
up seq anno comments: Phosphoserine; by CaMK2
up seq anno comments: Phosphoserine; by GSK3-beta
up seq anno comments: Phosphoserine; by PKC/PRKCA
up seq anno comments: Phosphothreonine; by GSK3-beta
up seq anno comments: Phosphothreonine; by RPS6KA1 and PKC/PRKCA
up seq anno comments: Phosphothreonine; by RPS6KA1, CDK2 and MAPK
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: bZIP
up seq anno feature ids: PRO_0000076617
up seq anno feature ids: VAR_016300
up seq anno feature ids: VSP_053313
up seq anno feature ids: VSP_053314

9606:TREM2
gene id: 9606:TREM2
uniprot id: Q5TCX1
uniprot id: Q9NZC2
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: Secondary Structure
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: 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: Affects protein maturation.
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: IGv
up seq anno comments: Ig-like V-type
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
up seq anno feature ids: VAR_033626
up seq anno feature ids: VAR_061329
up seq anno feature ids: VAR_061330
up seq anno feature ids: VAR_077696
up seq anno feature ids: VAR_081676
up seq anno feature ids: VAR_081677
up seq anno feature ids: VAR_081678
up seq anno feature ids: VAR_081679
up seq anno feature ids: VAR_081680
up seq anno feature ids: VAR_081812
up seq anno feature ids: VAR_081813
up seq anno feature ids: VAR_081814
up seq anno feature ids: VAR_081815
up seq anno feature ids: VAR_081816
up seq anno feature ids: VAR_081817
up seq anno feature ids: VAR_081818

9606:NBPF3
gene id: 9606:NBPF3
uniprot id: Q9H094
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 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: 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: 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: Neuroblastoma breakpoint family member 3
up seq anno comments: Olduvai 1
up seq anno comments: Olduvai 2
up seq anno comments: Olduvai 3
up seq anno comments: Olduvai 4
up seq anno comments: Olduvai 5
up seq anno feature ids: PRO_0000288038
up seq anno feature ids: VAR_032374
up seq anno feature ids: VAR_032375
up seq anno feature ids: VAR_047965
up seq anno feature ids: VAR_053909
up seq anno feature ids: VSP_025625
up seq anno feature ids: VSP_025626
up seq anno feature ids: VSP_025627
up seq anno feature ids: VSP_025628
up seq anno feature ids: VSP_044705

9606:PHF3
gene id: 9606:PHF3
uniprot id: B3KP41
uniprot id: D6R9X2
uniprot id: Q92576
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: Secondary Structure
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: 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 labels: Zinc Finger
up seq anno comments: Asymmetric dimethylarginine
up seq anno comments: Basic and acidic residues
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 finger protein 3
up seq anno comments: PHD-type
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: TFIIS central
up seq anno feature ids: PRO_0000059292
up seq anno feature ids: VAR_022040
up seq anno feature ids: VAR_051599
up seq anno feature ids: VSP_026434

9606:FER
gene id: 9606:FER
uniprot id: P16591
uniprot id: Q6PEJ9
uniprot id: W0S0X4
uniprot id: W0S1B5
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: Secondary Structure
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: 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: Abolishes kinase activity.
up seq anno comments: Abolishes kinase activity. Abolishes location at microtubules.
up seq anno comments: F-BAR
up seq anno comments: In a lung small cell carcinoma sample; somatic mutation.
up seq anno comments: In an ovarian Endometrioid carcinoma 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 comments: Phosphotyrosine; by autocatalysis
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: SH2
up seq anno comments: Tyrosine-protein kinase Fer
up seq anno feature ids: PRO_0000088084
up seq anno feature ids: VAR_006282
up seq anno feature ids: VAR_041691
up seq anno feature ids: VAR_041692
up seq anno feature ids: VAR_041693
up seq anno feature ids: VAR_041694
up seq anno feature ids: VAR_041695
up seq anno feature ids: VAR_041696
up seq anno feature ids: VAR_051695
up seq anno feature ids: VSP_041765
up seq anno feature ids: VSP_043846
up seq anno feature ids: VSP_043847

9606:SEC23B
gene id: 9606:SEC23B
uniprot id: A0A2R8YFH5
uniprot id: Q15437
up 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: 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: Modified Residue
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno comments: Gelsolin-like
up seq anno comments: In CDAN2.
up seq anno comments: In CDAN2; the mutant protein is unstable with less than 5% of protein detectable compared to wild-type.
up seq anno comments: In CDAN2; unknown pathological significance.
up seq anno comments: In CDAN2; unknown pathological significance; the mutant protein is expressed as the wild-type.
up seq anno comments: In CWS7; aberrant aggregation; causes mislocalization of the protein in the cytoplasm; reduces interaction with SAR1A; confers endoplasmic reticulum (ER) stress-mediated cell growth advantage.
up seq anno comments: In CWS7; unknown pathological significance.
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: Protein transport protein Sec23B
up seq anno comments: Removed
up seq anno comments: Sec23_BS
up seq anno comments: Sec23_helical
up seq anno comments: Sec23_trunk
up seq anno comments: zf-Sec23_Sec24
up seq anno feature ids: PRO_0000205148
up seq anno feature ids: VAR_020318
up seq anno feature ids: VAR_034482
up seq anno feature ids: VAR_062294
up seq anno feature ids: VAR_062295
up seq anno feature ids: VAR_062296
up seq anno feature ids: VAR_062297
up seq anno feature ids: VAR_062298
up seq anno feature ids: VAR_062299
up seq anno feature ids: VAR_062300
up seq anno feature ids: VAR_062301
up seq anno feature ids: VAR_062302
up seq anno feature ids: VAR_062303
up seq anno feature ids: VAR_062304
up seq anno feature ids: VAR_062305
up seq anno feature ids: VAR_062306
up seq anno feature ids: VAR_062307
up seq anno feature ids: VAR_062308
up seq anno feature ids: VAR_062309
up seq anno feature ids: VAR_076424
up seq anno feature ids: VAR_076425
up seq anno feature ids: VAR_086961
up seq anno feature ids: VAR_086962

9606:DNAJC15
gene id: 9606:DNAJC15
uniprot id: Q9Y5T4
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 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: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: DnaJ homolog subfamily C member 15
up seq anno comments: Helical
up seq anno comments: J
up seq anno comments: Mitochondrial intermembrane
up seq anno comments: Mitochondrial matrix
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000247139
up seq anno feature ids: VAR_027077

9606:FILIP1L
gene id: 9606:FILIP1L
uniprot id: Q4L180
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 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: 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: Filamin A-interacting protein 1-like
up seq anno comments: In isoform 2, isoform 3 and isoform 5.
up seq anno comments: In isoform 3, isoform 5 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: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000309470
up seq anno feature ids: VAR_050993
up seq anno feature ids: VAR_050994
up seq anno feature ids: VSP_029201
up seq anno feature ids: VSP_029202
up seq anno feature ids: VSP_029203
up seq anno feature ids: VSP_029204
up seq anno feature ids: VSP_029205
up seq anno feature ids: VSP_029206
up seq anno feature ids: VSP_036502

9606:TEX55
gene id: 9606:TEX55
uniprot id: Q96M34
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Polar residues
up seq anno comments: Testis-specific expressed protein 55
up seq anno feature ids: PRO_0000254576
up seq anno feature ids: VAR_028841
up seq anno feature ids: VAR_028842
up seq anno feature ids: VAR_028843
up seq anno feature ids: VAR_028844
up seq anno feature ids: VAR_028845
up seq anno feature ids: VAR_061574

9606:C22orf31
gene id: 9606:C22orf31
uniprot id: O95567
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Uncharacterized protein C22orf31
up seq anno feature ids: PRO_0000254057
up seq anno feature ids: VAR_028808
up seq anno feature ids: VAR_028809

9606:NSMAF
gene id: 9606:NSMAF
uniprot id: Q92636
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 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: BEACH
up seq anno comments: BEACH-type PH
up seq anno comments: GRAM
up seq anno comments: In isoform 2.
up seq anno comments: Protein FAN
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_0000050975
up seq anno feature ids: VAR_047023
up seq anno feature ids: VSP_042036

9606:CYP2C19
gene id: 9606:CYP2C19
uniprot id: P33261
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: 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: Cytochrome P450 2C19
up seq anno comments: In allele CYP2C19*10.
up seq anno comments: In allele CYP2C19*11.
up seq anno comments: In allele CYP2C19*13.
up seq anno comments: In allele CYP2C19*14.
up seq anno comments: In allele CYP2C19*15.
up seq anno comments: In allele CYP2C19*16; lowered catalytic activity.
up seq anno comments: In allele CYP2C19*18.
up seq anno comments: In allele CYP2C19*19.
up seq anno comments: In allele CYP2C19*1B, allele CYP2C19*1C, allele CYP2C19*2A, allele CYP2C19*2B, allele CYP2C19*2C, allele CYP2C19*2E, allele CYP2C19*2F, allele CYP2C19*2G, allele CYP2C19*2H, allele CYP2C19*2J, allele CYP2C19*3A, allele CYP2C19*3B, allele CYP2C19*3C, allele CYP2C19*4A, allele CYP2C19*4B, allele CYP2C19*6, allele CYP2C19*9, allele CYP2C19*10, allele CYP2C19*11, allele CYP2C19*12, allele CYP2C19*13, allele CYP2C19*14, allele CYP2C19*15, allele CYP2C19*18, allele CYP2C19*19, allele CYP2C19*22, allele CYP2C19*23, allele CYP2C19*24, allele CYP2C19*25, allele CYP2C19*26, allele CYP2C19*27, allele CYP2C19*28, allele CYP2C19*29, allele CYP2C19*31, allele CYP2C19*32, allele CYP2C19*33 and allele CYP2C19*35.
up seq anno comments: In allele CYP2C19*5A and allele CYP2C19*5B; loss of activity.
up seq anno comments: In allele CYP2C19*6; loss of activity.
up seq anno comments: In allele CYP2C19*8; loss of activity.
up seq anno comments: In allele CYP2C19*9.
up seq anno comments: axial binding residue
up seq anno feature ids: PRO_0000051708
up seq anno feature ids: VAR_001255
up seq anno feature ids: VAR_008357
up seq anno feature ids: VAR_008358
up seq anno feature ids: VAR_008359
up seq anno feature ids: VAR_020123
up seq anno feature ids: VAR_021268
up seq anno feature ids: VAR_021269
up seq anno feature ids: VAR_021270
up seq anno feature ids: VAR_021271
up seq anno feature ids: VAR_021272
up seq anno feature ids: VAR_021273
up seq anno feature ids: VAR_021274
up seq anno feature ids: VAR_021275
up seq anno feature ids: VAR_024083
up seq anno feature ids: VAR_024084
up seq anno feature ids: VAR_024085
up seq anno feature ids: VAR_024718
up seq anno feature ids: VAR_024719

9606:HUWE1
gene id: 9606:HUWE1
uniprot id: A0A024R9W5
uniprot id: Q7Z6Z7
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: Secondary Structure
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: 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: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: E3 ubiquitin-protein ligase HUWE1
up seq anno comments: Found in patients with autism spectrum disorders; unknown pathological significance.
up seq anno comments: Glycyl thioester intermediate
up seq anno comments: HECT
up seq anno comments: In MRXST.
up seq anno comments: In MRXST; decreased protein levels in patient cells.
up seq anno comments: In MRXST; increased protein levels in patient cells.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of activity.
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: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: UBA
up seq anno comments: UIM
up seq anno comments: WWE
up seq anno feature ids: PRO_0000120340
up seq anno feature ids: VAR_045670
up seq anno feature ids: VAR_045671
up seq anno feature ids: VAR_045672
up seq anno feature ids: VAR_061986
up seq anno feature ids: VAR_076253
up seq anno feature ids: VAR_082247
up seq anno feature ids: VAR_082248
up seq anno feature ids: VAR_082249
up seq anno feature ids: VAR_082250
up seq anno feature ids: VAR_082251
up seq anno feature ids: VAR_082252
up seq anno feature ids: VAR_082253
up seq anno feature ids: VAR_082254
up seq anno feature ids: VAR_082255
up seq anno feature ids: VAR_082256
up seq anno feature ids: VAR_082257
up seq anno feature ids: VAR_082258
up seq anno feature ids: VAR_082259
up seq anno feature ids: VAR_082260
up seq anno feature ids: VAR_082261
up seq anno feature ids: VAR_082262
up seq anno feature ids: VAR_082263
up seq anno feature ids: VAR_082264
up seq anno feature ids: VSP_011146
up seq anno feature ids: VSP_015272

9606:SI
gene id: 9606:SI
uniprot id: P14410
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: Secondary Structure
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: Glycosylation Site
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: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: For isomaltase activity
up seq anno comments: For sucrase activity
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In CSID.
up seq anno comments: In CSID; SI accumulates predominantly in the ER.
up seq anno comments: In CSID; causes loss of anchored SI from the membrane.
up seq anno comments: In CSID; exhibits intracellular accumulation of mannose-rich SI in the Golgi.
up seq anno comments: In CSID; missorting of the enzyme to the basolateral membrane.
up seq anno comments: Isomaltase
up seq anno comments: Lumenal
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Nucleophile; for isomaltase activity
up seq anno comments: Nucleophile; for sucrase activity
up seq anno comments: P-type 1
up seq anno comments: P-type 2
up seq anno comments: Phosphoserine; by PKA
up seq anno comments: Proton donor; for isomaltase activity
up seq anno comments: Removed
up seq anno comments: Sucrase
up seq anno comments: Sucrase-isomaltase, intestinal
up seq anno comments: Sulfotyrosine
up seq anno feature ids: PRO_0000018551
up seq anno feature ids: PRO_0000018552
up seq anno feature ids: PRO_0000018553
up seq anno feature ids: VAR_007854
up seq anno feature ids: VAR_025367
up seq anno feature ids: VAR_025368
up seq anno feature ids: VAR_025369
up seq anno feature ids: VAR_025370
up seq anno feature ids: VAR_025371
up seq anno feature ids: VAR_025372
up seq anno feature ids: VAR_025373
up seq anno feature ids: VAR_025374
up seq anno feature ids: VAR_025375
up seq anno feature ids: VAR_025376
up seq anno feature ids: VAR_025377
up seq anno feature ids: VAR_025378
up seq anno feature ids: VAR_025379
up seq anno feature ids: VAR_034522

9606:IL2
gene id: 9606:IL2
uniprot id: P60568
uniprot id: Q0GK43
up 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 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 comments: In FT-IL2-A and FT-IL2-B.
up seq anno comments: In FT-IL2-B.
up seq anno comments: Interleukin-2
up seq anno comments: O-linked (GalNAc...) threonine
up seq anno feature ids: CAR_000051
up seq anno feature ids: PRO_0000015484
up seq anno feature ids: PRO_5014205719
up seq anno feature ids: VAR_003967
up seq anno feature ids: VAR_003968

9606:TRIM26
gene id: 9606:TRIM26
uniprot id: A0A024RCP3
uniprot id: Q12899
up 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 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: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: Acidic residues
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 26
up seq anno feature ids: PRO_0000056235
up seq anno feature ids: VAR_052138

9606:PCSK6
gene id: 9606:PCSK6
uniprot id: A2RQD9
uniprot id: H7BXT3
uniprot id: P29122
uniprot id: Q59H04
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: 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: Glycosylation Site
up seq anno labels: Motif
up seq anno labels: Non-terminal Residue
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: Cell attachment site
up seq anno comments: Charge relay system
up seq anno comments: FU 1
up seq anno comments: FU 2
up seq anno comments: FU 3
up seq anno comments: FU 4
up seq anno comments: FU 5
up seq anno comments: In isoform PACE4A-II and isoform PACE4E-II.
up seq anno comments: In isoform PACE4B.
up seq anno comments: In isoform PACE4C.
up seq anno comments: In isoform PACE4CS.
up seq anno comments: In isoform PACE4D.
up seq anno comments: In isoform PACE4E-I and isoform PACE4E-II.
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: Peptidase_S8
up seq anno comments: Pro residues
up seq anno comments: Proprotein convertase subtilisin/kexin type 6
up seq anno comments: S8_pro-domain
up seq anno feature ids: PRO_0000027110
up seq anno feature ids: PRO_0000027111
up seq anno feature ids: VAR_051824
up seq anno feature ids: VSP_005427
up seq anno feature ids: VSP_005428
up seq anno feature ids: VSP_005429
up seq anno feature ids: VSP_005430
up seq anno feature ids: VSP_005431
up seq anno feature ids: VSP_005432
up seq anno feature ids: VSP_005433
up seq anno feature ids: VSP_005434
up seq anno feature ids: VSP_005435
up seq anno feature ids: VSP_005436
up seq anno feature ids: VSP_005437

9606:BROX
gene id: 9606:BROX
uniprot id: B7Z953
uniprot id: F5GXQ0
uniprot id: Q5VW32
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: 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: Lipid Binding
up seq anno labels: Modified Residue
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: BRO1
up seq anno comments: BRO1 domain-containing protein BROX
up seq anno comments: Basic and acidic residues
up seq anno comments: Cysteine methyl ester
up seq anno comments: In isoform 2.
up seq anno comments: N6-acetyllysine
up seq anno comments: Removed in mature form
up seq anno comments: S-farnesyl cysteine
up seq anno feature ids: PRO_0000304612
up seq anno feature ids: PRO_0000396736
up seq anno feature ids: VSP_055551

9606:ATP6V0D2
gene id: 9606:ATP6V0D2
uniprot id: Q8N8Y2
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno comments: V-type proton ATPase subunit d 2
up seq anno feature ids: PRO_0000285657
up seq anno feature ids: VAR_032039
up seq anno feature ids: VAR_032040

9606:PLXDC1
gene id: 9606:PLXDC1
uniprot id: Q8IUK5
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 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: Cytoplasmic
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 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: Plexin domain-containing protein 1
up seq anno feature ids: PRO_0000232751
up seq anno feature ids: VAR_064050
up seq anno feature ids: VSP_017970
up seq anno feature ids: VSP_017971
up seq anno feature ids: VSP_017972
up seq anno feature ids: VSP_017973
up seq anno feature ids: VSP_017974

9606:TSPAN11
gene id: 9606:TSPAN11
uniprot id: A1L157
up 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 labels: Chain
up seq anno labels: Glycosylation Site
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: Tetraspanin-11
up seq anno feature ids: PRO_0000311905
up seq anno feature ids: VAR_037337

9606:YIPF6
gene id: 9606:YIPF6
uniprot id: Q96EC8
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 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:SLC6A1
gene id: 9606:SLC6A1
uniprot id: A0A024R2K8
uniprot id: A0A2R8Y4I3
uniprot id: B7Z3C5
uniprot id: P30531
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: 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: Modified Residue
up seq anno labels: Motif
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: Complete loss of GABA transporter activity.
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Found in a patient with generalized epilepsy; unknown pathological significance; complete loss of GABA transporter activity.
up seq anno comments: Found in a patient with generalized epilepsy; unknown pathological significance; retains about 6% of wild-type GABA transporter activity.
up seq anno comments: Found in a patient with intractable absence epilepsy; unknown pathological significance; retains about 27% of wild-type GABA transporter activity.
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 MAE.
up seq anno comments: In MAE; unknown pathological significance; retains about 13% of wild-type GABA transporter activity.
up seq anno comments: In MAE; unknown pathological significance; retains about 2% of wild-type GABA transporter activity.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: PDZ-binding
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Sodium- and chloride-dependent GABA transporter 1
up seq anno feature ids: PRO_0000214743
up seq anno feature ids: VAR_055088
up seq anno feature ids: VAR_073852
up seq anno feature ids: VAR_073853
up seq anno feature ids: VAR_073854
up seq anno feature ids: VAR_073855
up seq anno feature ids: VAR_086249
up seq anno feature ids: VAR_086250
up seq anno feature ids: VAR_086251
up seq anno feature ids: VAR_086252
up seq anno feature ids: VAR_086253
up seq anno feature ids: VAR_086254
up seq anno feature ids: VAR_086255

9606:SLC10A5
gene id: 9606:SLC10A5
uniprot id: Q5PT55
up 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 labels: Chain
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: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Sodium/bile acid cotransporter 5
up seq anno feature ids: PRO_0000263745
up seq anno feature ids: VAR_050230

9606:LAMB4
gene id: 9606:LAMB4
uniprot id: A4D0S4
uniprot id: B4DTV7
uniprot id: B7ZMJ6
uniprot id: C9JMJ0
uniprot id: O95127
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 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: 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: In isoform 3.
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 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-4
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000312857
up seq anno feature ids: PRO_5002803305
up seq anno feature ids: PRO_5002866694
up seq anno feature ids: PRO_5002996572
up seq anno feature ids: VAR_037588
up seq anno feature ids: VAR_037589
up seq anno feature ids: VAR_037590
up seq anno feature ids: VAR_037591
up seq anno feature ids: VAR_037592
up seq anno feature ids: VAR_037593
up seq anno feature ids: VAR_037594
up seq anno feature ids: VAR_074174
up seq anno feature ids: VSP_029913
up seq anno feature ids: VSP_029914
up seq anno feature ids: VSP_029915
up seq anno feature ids: VSP_029916

9606:EIF4G2
gene id: 9606:EIF4G2
uniprot id: P78344
uniprot id: Q2TU89
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: Secondary Structure
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: 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: Eukaryotic translation initiation factor 4 gamma 2
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: MI
up seq anno comments: MIF4G
up seq anno comments: N-acetylmethionine
up seq anno comments: N6-methyllysine
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: W2
up seq anno feature ids: PRO_0000213325
up seq anno feature ids: VAR_048923
up seq anno feature ids: VSP_038726

9606:ZMYM2
gene id: 9606:ZMYM2
uniprot id: A0A024RDS3
uniprot id: A8K126
uniprot id: Q9UBW7
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In NECRC.
up seq anno comments: In NECRC; does not localize to the nucleus; decreased interaction with FOXP1 and FOXP2.
up seq anno comments: In NECRC; does not localize to the nucleus; loss of interaction with FOXP1 and FOXP2.
up seq anno comments: In isoform 2.
up seq anno comments: Likely benign variant; found in a patient with congenital anomalies of the kidney and urinary tract; no effect on localization to the nucleus.
up seq anno comments: Likely benign variant; found in a patient with congenital anomalies of the kidney and urinary tract; no effect on localization to the nucleus; no effect on transcriptional repression activity.
up seq anno comments: Likely benign variant; found in a patient with congenital anomalies of the kidney and urinary tract; requires 2 nucleotide substitutions; no effect on localization to the nucleus.
up seq anno comments: MYM-type 1
up seq anno comments: MYM-type 2
up seq anno comments: MYM-type 3
up seq anno comments: MYM-type 4
up seq anno comments: MYM-type 5
up seq anno comments: MYM-type 6
up seq anno comments: MYM-type 7
up seq anno comments: MYM-type 8
up seq anno comments: MYM-type 9
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: TRASH
up seq anno comments: Zinc finger MYM-type protein 2
up seq anno feature ids: PRO_0000191382
up seq anno feature ids: VAR_086274
up seq anno feature ids: VAR_086275
up seq anno feature ids: VAR_086276
up seq anno feature ids: VAR_086277
up seq anno feature ids: VAR_086278
up seq anno feature ids: VAR_086279
up seq anno feature ids: VAR_086280
up seq anno feature ids: VAR_086281
up seq anno feature ids: VAR_086282
up seq anno feature ids: VAR_086283
up seq anno feature ids: VAR_086284
up seq anno feature ids: VAR_086285
up seq anno feature ids: VAR_086286
up seq anno feature ids: VAR_086287
up seq anno feature ids: VAR_086288
up seq anno feature ids: VSP_039065
up seq anno feature ids: VSP_039066
up seq anno feature ids: VSP_039067

9606:PLEKHH2
gene id: 9606:PLEKHH2
uniprot id: Q8IVE3
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 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: 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: 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:NHLH1
gene id: 9606:NHLH1
uniprot id: Q02575
uniprot id: Q5T203
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 comments: BHLH
up seq anno comments: Basic and acidic residues
up seq anno comments: Helix-loop-helix protein 1
up seq anno comments: Polar residues
up seq anno comments: bHLH
up seq anno feature ids: PRO_0000127197

9606:RAB5A
gene id: 9606:RAB5A
uniprot id: P20339
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: Secondary Structure
up seq anno parent labels: 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: 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: (Microbial infection) N-beta-linked (GlcNAc) arginine
up seq anno comments: Effector region
up seq anno comments: In isoform 2.
up seq anno comments: Loss of GTPase activity. Does not inhibit filopodia formation.
up seq anno comments: Loss of phosphorylation. No effect on GDI1 and GDI2 binding.
up seq anno comments: No effect on RABEP1 binding affinity.
up seq anno comments: Phosphomimetic mutant. Loss of GDI1 and GDI2 binding.
up seq anno comments: Phosphoserine; by LRRK2
up seq anno comments: Ras-related protein Rab-5A
up seq anno comments: S-geranylgeranyl cysteine
up seq anno comments: Strongly decreases RABEP1 and ZFYVE20 binding affinity.
up seq anno comments: Strongly decreases RABEP1 binding affinity.
up seq anno comments: Strongly decreases RABEP1 binding affinity. Impairs endosome fusion.
up seq anno comments: Strongly decreases ZFYVE20 binding affinity.
up seq anno feature ids: PRO_0000121104
up seq anno feature ids: VSP_055830

9606:MLEC
gene id: 9606:MLEC
uniprot id: F5GX14
uniprot id: Q14165
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: 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: Signal Peptide
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: Lumenal
up seq anno comments: Malectin
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000013982
up seq anno feature ids: PRO_5003324697

9606:GAGE2A
gene id: 9606:GAGE2A
uniprot id: Q6NT46
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 comments: Basic and acidic residues
up seq anno comments: G antigen 2A
up seq anno feature ids: PRO_0000395445

9606:OBSL1
gene id: 9606:OBSL1
uniprot id: O75147
uniprot id: Q9H8B3
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: Secondary Structure
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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Diminishes binding affinity for TTN.
up seq anno comments: Fibronectin type-III
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 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: Ig-like 6
up seq anno comments: Ig-like 7
up seq anno comments: Ig-like 8
up seq anno comments: Ig-like 9
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: Obscurin-like protein 1
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000247959
up seq anno feature ids: VSP_040784
up seq anno feature ids: VSP_040785
up seq anno feature ids: VSP_040786
up seq anno feature ids: VSP_040787
up seq anno feature ids: VSP_040788
up seq anno feature ids: VSP_054755
up seq anno feature ids: VSP_054756

9606:SULT1A4
gene id: 9606:SULT1A4
uniprot id: P0DMM9
uniprot id: P0DMN0
uniprot id: Q1ET61
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: 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: 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: Decreases levels of sulfotransferase activity.
up seq anno comments: Decreases levels of sulfotransferase activity; accelerates proteasome-dependent degradation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: No effect on sulfotransferase activity.
up seq anno comments: Proton acceptor
up seq anno comments: Sulfotransfer_1
up seq anno comments: Sulfotransferase 1A3
up seq anno comments: Sulfotransferase 1A4
up seq anno feature ids: PRO_0000085159
up seq anno feature ids: PRO_0000430204
up seq anno feature ids: VAR_071108
up seq anno feature ids: VAR_071109
up seq anno feature ids: VAR_071110
up seq anno feature ids: VAR_071111
up seq anno feature ids: VAR_071112
up seq anno feature ids: VAR_071113
up seq anno feature ids: VAR_071114
up seq anno feature ids: VAR_071115
up seq anno feature ids: VSP_012326
up seq anno feature ids: VSP_047771

9606:KIAA0408
gene id: 9606:KIAA0408
uniprot id: Q6ZU52
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
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 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:POU2AF1
gene id: 9606:POU2AF1
uniprot id: Q16633
up 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 labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Sequence Variant
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:GARS1
gene id: 9606:GARS1
uniprot id: P41250
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: Secondary Structure
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: 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
up seq anno feature ids: VAR_073195
up seq anno feature ids: VAR_074016
up seq anno feature ids: VAR_074017
up seq anno feature ids: VAR_079827
up seq anno feature ids: VAR_079828
up seq anno feature ids: VAR_079829
up seq anno feature ids: VAR_085141
up seq anno feature ids: VAR_085142
up seq anno feature ids: VAR_085143
up seq anno feature ids: VSP_060970

9606:CDH16
gene id: 9606:CDH16
uniprot id: O75309
up 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 labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation Site
up seq anno labels: Modified 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: 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: Cadherin-16
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: Phosphoserine
up seq anno feature ids: PRO_0000003809
up seq anno feature ids: VAR_021870
up seq anno feature ids: VAR_021871
up seq anno feature ids: VAR_061058
up seq anno feature ids: VSP_013354
up seq anno feature ids: VSP_046027
up seq anno feature ids: VSP_046467

9606:DGKD
gene id: 9606:DGKD
uniprot id: A0A024R495
uniprot id: Q16760
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 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: 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: DAGKc
up seq anno comments: Decreased interaction with AP2A2.
up seq anno comments: Decreased interaction with AP2A2; when associated with A-369.
up seq anno comments: Decreased interaction with AP2A2; when associated with A-372.
up seq anno comments: Diacylglycerol kinase delta
up seq anno comments: In isoform 1.
up seq anno comments: Loss of homooligomerization.
up seq anno comments: PH
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: Pro residues
up seq anno comments: SAM
up seq anno feature ids: PRO_0000218462
up seq anno feature ids: VSP_012891

9606:ACACB
gene id: 9606:ACACB
uniprot id: O00763
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: Secondary Structure
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: 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: ATP-grasp
up seq anno comments: Acetyl-CoA carboxylase 2
up seq anno comments: Altered regulation of oligomerization by phosphorylation at S-222.
up seq anno comments: Biotin carboxylation
up seq anno comments: Biotinyl-binding
up seq anno comments: CoA carboxyltransferase C-terminal
up seq anno comments: CoA carboxyltransferase N-terminal
up seq anno comments: In a pancreatic ductal adenocarcinoma sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of regulation of oligomerization by phosphorylation at S-222.
up seq anno comments: Mitochondrion
up seq anno comments: N6-biotinyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by AMPK
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000146767
up seq anno feature ids: VAR_031255
up seq anno feature ids: VAR_031256
up seq anno feature ids: VAR_031257
up seq anno feature ids: VAR_062667
up seq anno feature ids: VSP_000547
up seq anno feature ids: VSP_057081
up seq anno feature ids: VSP_057082

9606:GNL2
gene id: 9606:GNL2
uniprot id: Q13823
uniprot id: Q5T0F3
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: 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: 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: CP-type G
up seq anno comments: Diffused nuclear localization, loss of nucleolar localization.
up seq anno comments: Loss of GTP-binding. Efficient localization to the nucleus, but excluded from nucleoli.
up seq anno comments: Loss of GTP-binding. Punctate pattern throughout the nucleus, including nucleoli.
up seq anno comments: N-acetylmethionine
up seq anno comments: No effect on GTP-binding, nor on nucleolar localization.
up seq anno comments: No effect on nucleolar localization Predominantly cytoplasmic, with some nucleolar staining; when associated with 682-AAA-684. Strong nucleolar localization, with some cytoplasmic staining; when associated with 724-AAA-726. Diffused localization to both cytoplasm and nucleus; when associated with 682-AAA-684 and 724-AAA-726.
up seq anno comments: No effect on nucleolar localization.
up seq anno comments: No effect on nucleolar localization. Predominantly cytoplasmic, with some nucleolar staining; when associated with 711-AAA-713. Diffused localization to both cytoplasm and nucleus; when associated with 711-AAA-713 and 724-AAA-726.
up seq anno comments: No effect on nucleolar localization. Strong nucleolar localization, with some cytoplasmic staining; when associated with 711-AAA-713. Diffused localization to both cytoplasm and nucleus; when associated with 682-AAA-684 and 711-AAA-713.
up seq anno comments: No effect on nucleolar localization; when associated with A-463.
up seq anno comments: No effect on nucleolar localization; when associated with A-475.
up seq anno comments: Nucleolar GTP-binding protein 2
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000215806
up seq anno feature ids: VAR_050291

9606:STMND1
gene id: 9606:STMND1
uniprot id: H3BQB6
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 comments: Basic and acidic residues
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:OR1L4
gene id: 9606:OR1L4
uniprot id: Q8NGR5
up 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 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 1L4
up seq anno feature ids: PRO_0000150444
up seq anno feature ids: VAR_053124
up seq anno feature ids: VAR_053125

9606:CPNE7
gene id: 9606:CPNE7
uniprot id: Q9UBL6
up 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 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:HSCB
gene id: 9606:HSCB
uniprot id: A0A384NYJ4
uniprot id: B0QYH2
uniprot id: Q8IWL3
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: 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: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes self-interaction and interaction with HSPA9 and the CIA complex but does not alter subcellular localization; when associated with S-41; S-44 and S-58.
up seq anno comments: Abolishes self-interaction and interaction with HSPA9 and the CIA complex but does not alter subcellular localization; when associated with S-41; S-44 and S-61.
up seq anno comments: Abolishes self-interaction and interaction with HSPA9 and the CIA complex but does not alter subcellular localization; when associated with S-41; S-58 and S-61.
up seq anno comments: Abolishes self-interaction and interaction with HSPA9 and the CIA complex but does not alter subcellular localization; when associated with S-44; S-58 and S-61.
up seq anno comments: Does not interact with HSPA9. Does not inhibit interaction with ISCU.
up seq anno comments: HSCB_C
up seq anno comments: HscB_4_cys
up seq anno comments: Iron-sulfur cluster co-chaperone protein HscB, cytoplasmic
up seq anno comments: Iron-sulfur cluster co-chaperone protein HscB, mitochondrial
up seq anno comments: J
up seq anno feature ids: PRO_0000007262
up seq anno feature ids: PRO_0000446242
up seq anno feature ids: VAR_048916
up seq anno feature ids: VAR_048917

9606:CT47A6
gene id: 9606:CT47A6
uniprot id: Q5JQC4
up seq anno parent labels: Experimental Information
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: Sequence Conflict
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Cancer/testis antigen 47A
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000284450

9606:SPRYD4
gene id: 9606:SPRYD4
uniprot id: Q8WW59
up 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 labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno comments: B30.2/SPRY
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-succinyllysine
up seq anno comments: SPRY domain-containing protein 4
up seq anno feature ids: PRO_0000240856
up seq anno feature ids: VAR_051381

9606:ZNF596
gene id: 9606:ZNF596
uniprot id: Q8TC21
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 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:TMEM61
gene id: 9606:TMEM61
uniprot id: Q8N0U2
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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: Transmembrane protein 61
up seq anno feature ids: PRO_0000254130
up seq anno feature ids: VAR_028820

9606:NEK6
gene id: 9606:NEK6
uniprot id: A0A024R8A6
uniprot id: Q9HC98
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: 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: Mutagenesis Site
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: Increase in catalytic activity.
up seq anno comments: Loss of autophosphorylation and of kinase activity and induction of apoptosis; when associated with M-74.
up seq anno comments: Loss of autophosphorylation and of kinase activity and induction of apoptosis; when associated with M-75.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by NEK9
up seq anno comments: Phosphothreonine
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: Serine/threonine-protein kinase Nek6
up seq anno feature ids: PRO_0000086427
up seq anno feature ids: VSP_041798
up seq anno feature ids: VSP_041799
up seq anno feature ids: VSP_041800

9606:SLC25A51
gene id: 9606:SLC25A51
uniprot id: Q9H1U9
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 labels: Chain
up seq anno labels: Mutagenesis Site
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
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:USP53
gene id: 9606:USP53
uniprot id: A0A8J9FKG6
uniprot id: Q70EK8
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: In PFIC7.
up seq anno comments: In PFIC7; unknown pathological significance.
up seq anno comments: Inactive ubiquitin carboxyl-terminal hydrolase 53
up seq anno comments: Polar residues
up seq anno comments: USP
up seq anno feature ids: PRO_0000080681
up seq anno feature ids: VAR_051541
up seq anno feature ids: VAR_086693
up seq anno feature ids: VAR_086694
up seq anno feature ids: VAR_086695
up seq anno feature ids: VAR_086696
up seq anno feature ids: VAR_086697
up seq anno feature ids: VAR_086698
up seq anno feature ids: VAR_086699
up seq anno feature ids: VAR_086700

9606:PITPNA
gene id: 9606:PITPNA
uniprot id: Q00169
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: Secondary Structure
up seq anno parent labels: 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: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Complete loss of phosphatidylinositol transfer activity but no effect on phosphatidylcholine transfer activity.
up seq anno comments: N6-acetyllysine
up seq anno comments: No effect on phosphatidylinositol transfer activity.
up seq anno comments: No effect on phosphatidylinositol transfer activity. Resistant to inhibition by N-ethylmaleimide.
up seq anno comments: Phosphatidylinositol transfer protein alpha isoform
up seq anno comments: Reduced phosphatidylinositol and phosphatidylcholine transfer activity.
up seq anno comments: Reduced phosphatidylinositol transfer activity but no effect on phosphatidylcholine transfer activity.
up seq anno comments: Removed
up seq anno comments: Significant loss of phosphatidylinositol and phosphatidylcholine transfer activity.
up seq anno comments: Significant loss of phosphatidylinositol transfer activity but no effect on phosphatidylcholine transfer activity.
up seq anno feature ids: PRO_0000191639

9606:UPK2
gene id: 9606:UPK2
uniprot id: O00526
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 labels: Chain
up seq anno labels: Glycosylation 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: 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-linked (GlcNAc...) asparagine
up seq anno comments: Uroplakin-2
up seq anno feature ids: PRO_0000022630
up seq anno feature ids: PRO_0000022631
up seq anno feature ids: VAR_051473
up seq anno feature ids: VAR_062246

9606:SMIM3
gene id: 9606:SMIM3
uniprot id: Q9BZL3
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: Small integral membrane protein 3
up seq anno feature ids: PRO_0000096816

9606:ATP5F1E
gene id: 9606:ATP5F1E
uniprot id: P56381
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno comments: ATP synthase subunit epsilon, mitochondrial
up seq anno comments: In MC5DN3.
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-succinyllysine; alternate
up seq anno feature ids: PRO_0000071662
up seq anno feature ids: VAR_066211

9606:GPAT4
gene id: 9606:GPAT4
uniprot id: Q86UL3
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: Glycosylation Site
up seq anno labels: Motif
up seq anno labels: Signal Peptide
up seq anno labels: Transmembrane
up seq anno comments: Glycerol-3-phosphate acyltransferase 4
up seq anno comments: HXXXXD motif
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000024703

9606:C1QC
gene id: 9606:C1QC
uniprot id: A0A024RAA7
uniprot id: A0A8Q3SIZ0
uniprot id: P02747
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: Secondary Structure
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: 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: 4-hydroxyproline
up seq anno comments: 5-hydroxylysine
up seq anno comments: C1q
up seq anno comments: Collagen-like
up seq anno comments: Complement C1q subcomponent subunit C
up seq anno comments: In C1QD.
up seq anno comments: Interchain
up seq anno comments: O-linked (Gal...) hydroxylysine
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000003524
up seq anno feature ids: PRO_5014214276
up seq anno feature ids: VAR_008542

9606:LPXN
gene id: 9606:LPXN
uniprot id: B7Z5P7
uniprot id: O60711
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: Secondary Structure
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: 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: LD motif 1
up seq anno comments: LD motif 2
up seq anno comments: LD motif 3
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: Leupaxin
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Phosphotyrosine; by LYN
up seq anno feature ids: PRO_0000075836
up seq anno feature ids: VAR_050152
up seq anno feature ids: VSP_042655

9606:F8A3
gene id: 9606:F8A3
uniprot id: P23610
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 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: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: 40-kDa huntingtin-associated protein
up seq anno comments: N-acetylalanine
up seq anno comments: Nuclear localization signal
up seq anno comments: Pro residues
up seq anno comments: Removed
up seq anno feature ids: PRO_0000087159

9606:TEC
gene id: 9606:TEC
uniprot id: P42680
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: Secondary Structure
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: Helix
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: Zinc Finger
up seq anno comments: Btk-type
up seq anno comments: In a lung adenocarcinoma sample; somatic mutation.
up seq anno comments: PH
up seq anno comments: Phosphotyrosine
up seq anno comments: Phosphotyrosine; by autocatalysis
up seq anno comments: Phosphotyrosine; by autocatalysis, LYN and JAK2
up seq anno comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: SH2
up seq anno comments: SH3
up seq anno comments: Tyrosine-protein kinase Tec
up seq anno feature ids: PRO_0000088170
up seq anno feature ids: VAR_041850
up seq anno feature ids: VAR_041851

9606:OR2A12
gene id: 9606:OR2A12
uniprot id: Q8NGT7
up 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 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 2A12
up seq anno feature ids: PRO_0000150457
up seq anno feature ids: VAR_034171

9606:CCDC183
gene id: 9606:CCDC183
uniprot id: Q5T5S1
uniprot id: Q96IG8
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: 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 183
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_0000293465
up seq anno feature ids: VAR_033046
up seq anno feature ids: VAR_033047
up seq anno feature ids: VAR_033048
up seq anno feature ids: VAR_033049
up seq anno feature ids: VAR_063112
up seq anno feature ids: VSP_026477
up seq anno feature ids: VSP_026478
up seq anno feature ids: VSP_026479
up seq anno feature ids: VSP_026481
up seq anno feature ids: VSP_026482
up seq anno feature ids: VSP_026483
up seq anno feature ids: VSP_026484

9606:INSR
gene id: 9606:INSR
uniprot id: P06213
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: Secondary Structure
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: 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: 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 IRS1 and SHC1.
up seq anno comments: Abolishes interaction with IRS1 and significantly reduces interaction with SHC1. Has no effect on interaction with PIK3R1.
up seq anno comments: Abolishes interaction with IRS1. Severely disrupts, but does not abolish interaction with SHC1.
up seq anno comments: Abolishes the kinase activity and abolishes interaction with IRS1, SHC1, GRB7 and PIK3R1.
up seq anno comments: Abolishes the kinase activity.
up seq anno comments: Cytoplasmic
up seq anno comments: Does not affect interaction with IRS1, SHC1 or PIK3R1.
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: Has no effect on insulin-stimulated autophosphorylation, but inhibits the biological activity of the receptor. Abolishes interaction with IRS1 and almost completely prevents interaction with SHC1. Has no effect on interaction with PIK3R1. Abolishes interaction with STAT5B.
up seq anno comments: Helical
up seq anno comments: In HHF5 and IRAN type A; interferes with kinase activation by insulin.
up seq anno comments: In IRAN type A.
up seq anno comments: In IRAN type A; accelerates degradation of the protein and impairs kinase activity.
up seq anno comments: In IRAN type A; impairs proteolytic processing.
up seq anno comments: In IRAN type A; inhibits receptor internalization.
up seq anno comments: In IRAN type A; interferes with receptor processing.
up seq anno comments: In IRAN type A; moderate.
up seq anno comments: In IRAN type A; unknown pathological significance.
up seq anno comments: In Ins resistance; severe.
up seq anno comments: In LEPRCH and RMS; reduces insulin binding possibly due to reduced receptor levels on the cell surface.
up seq anno comments: In LEPRCH.
up seq anno comments: In LEPRCH; ARK-1.
up seq anno comments: In LEPRCH; Atlanta-1; abolishes insulin binding.
up seq anno comments: In LEPRCH; Geldeimalsen.
up seq anno comments: In LEPRCH; Helmond; inhibits processing and transport.
up seq anno comments: In LEPRCH; Verona-1.
up seq anno comments: In LEPRCH; abolishes insulin binding.
up seq anno comments: In LEPRCH; abolishes post-translational processing.
up seq anno comments: In LEPRCH; abolishes post-translational processing; abolishes insulin binding.
up seq anno comments: In LEPRCH; impaired receptor processing; impairs post-translational processing.
up seq anno comments: In LEPRCH; impairs post-translational processing.
up seq anno comments: In LEPRCH; impairs transport of the receptor to the cell surface.
up seq anno comments: In LEPRCH; inhibits receptor processing.
up seq anno comments: In LEPRCH; markedly impairs insulin binding.
up seq anno comments: In LEPRCH; markedly impairs insulin binding;impairs post-translational processing.
up seq anno comments: In LEPRCH; mild.
up seq anno comments: In LEPRCH; partially inhibits receptor processing and autophosphorylation; strongly impairs ERK phosphorylation; induces wild-type levels of IRS-1 phosphorylation.
up seq anno comments: In NIDDM.
up seq anno comments: In RMS and LEPRCH.
up seq anno comments: In RMS and LEPRCH; Winnipeg; may impair receptor processing.
up seq anno comments: In RMS.
up seq anno comments: In RMS; abolishes insulin binding.
up seq anno comments: In RMS; decreases post-translational processing.
up seq anno comments: In RMS; impairs post-translational processing.
up seq anno comments: In RMS; impairs transport to the plasma membrane and reduces the affinity to bind insulin.
up seq anno comments: In RMS; may impair receptor processing.
up seq anno comments: In RMS; reduces insulin binding.
up seq anno comments: In a NIDDM subject.
up seq anno comments: In a gastric adenocarcinoma sample; somatic mutation.
up seq anno comments: In a patient with insulin resistance.
up seq anno comments: In isoform Short.

9606:RPE65
gene id: 9606:RPE65
uniprot id: Q16518
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: 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: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Decreasing protein levels. Loss of enzymatic activity.
up seq anno comments: Decreasing protein levels. Loss of enzymatic activity. Significantly decreased protein stability.
up seq anno comments: Does not affect isomerohydrolase activity.
up seq anno comments: In LCA2 and RP20.
up seq anno comments: In LCA2 and RP20; severely decreased retinol isomerase activity.
up seq anno comments: In LCA2.
up seq anno comments: In LCA2; benign variant; no effect on retinol isomerase activity.
up seq anno comments: In LCA2; reduced protein levels; decreased function in the retinoid cycle.
up seq anno comments: In LCA2; severely decreased retinol isomerase activity.
up seq anno comments: In LCA2; unknown pathological significance.
up seq anno comments: In RP20 and LCA2.
up seq anno comments: In RP20 and LCA2; reduced protein levels; decreased function in the retinoid cycle.
up seq anno comments: In RP20.
up seq anno comments: In RP20; likely benign variant; very mild decrease of retinol isomerase activity.
up seq anno comments: In RP20; uncertain pathological significance.
up seq anno comments: In RP20; unknown pathological significance.
up seq anno comments: In RP87; unknown pathological significance; does not affect protein abundance; does not affect subcellular localization; does not affect isomerization activity; may cause abnormal splicing mRNAs thereby decreasing protein levels.
up seq anno comments: Increased isomerohydrolase activity.
up seq anno comments: Loss of enzymatic activity.
up seq anno comments: Loss of enzymatic activity. No palmitoylation. Loss of membrane association.
up seq anno comments: N-acetylserine
up seq anno comments: N6-acetyllysine
up seq anno comments: No effect on retinol isomerase activity.
up seq anno comments: No loss of enzymatic activity. No effect on palmitoylation. No loss of membrane association.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno comments: Retinoid isomerohydrolase
up seq anno comments: S-palmitoyl cysteine; in membrane form
up seq anno feature ids: PRO_0000143943
up seq anno feature ids: VAR_017126
up seq anno feature ids: VAR_017127
up seq anno feature ids: VAR_017128
up seq anno feature ids: VAR_017129
up seq anno feature ids: VAR_017130
up seq anno feature ids: VAR_017131
up seq anno feature ids: VAR_017132
up seq anno feature ids: VAR_017133
up seq anno feature ids: VAR_017134
up seq anno feature ids: VAR_017135
up seq anno feature ids: VAR_017136
up seq anno feature ids: VAR_017137
up seq anno feature ids: VAR_017138
up seq anno feature ids: VAR_017139
up seq anno feature ids: VAR_017140
up seq anno feature ids: VAR_017141
up seq anno feature ids: VAR_017142
up seq anno feature ids: VAR_018151
up seq anno feature ids: VAR_034477
up seq anno feature ids: VAR_037619
up seq anno feature ids: VAR_060808
up seq anno feature ids: VAR_060809
up seq anno feature ids: VAR_060810
up seq anno feature ids: VAR_060811
up seq anno feature ids: VAR_060812
up seq anno feature ids: VAR_060813
up seq anno feature ids: VAR_060814
up seq anno feature ids: VAR_060815
up seq anno feature ids: VAR_060816
up seq anno feature ids: VAR_060817
up seq anno feature ids: VAR_060818
up seq anno feature ids: VAR_060819
up seq anno feature ids: VAR_060820
up seq anno feature ids: VAR_060821
up seq anno feature ids: VAR_060822

9606:MVK
gene id: 9606:MVK
uniprot id: B2RDU6
uniprot id: B7Z301
uniprot id: F5H8H2
uniprot id: Q03426
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: 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: Helix
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: GHMP_kinases_C
up seq anno comments: GHMP_kinases_N
up seq anno comments: In HIDS and MEVA.
up seq anno comments: In HIDS and POROK3.
up seq anno comments: In HIDS.
up seq anno comments: In HIDS; most frequent mutation.
up seq anno comments: In MEVA and HIDS.
up seq anno comments: In MEVA.
up seq anno comments: In MEVA; diminished activity.
up seq anno comments: In POROK3.
up seq anno comments: Mevalonate kinase
up seq anno comments: Modest changes in KM for ATP. 100-fold increase in KM for mevalonate. Approximately 2-fold increase in Vmax.
up seq anno comments: Modest changes in KM for ATP. 20-fold increase in KM for mevalonate. 4000-fold decrease in Vmax.
up seq anno comments: Modest changes in KM for ATP. 20-fold increase in KM for mevalonate. Approximately 2-fold decrease in Vmax.
up seq anno comments: Modest changes in KM for ATP. 40-fold increase in KM for mevalonate. Approximately 2-fold decrease in Vmax.
up seq anno comments: No change in protein stability. Decreased kinase activity. Approximately 50-fold decrease in Vmax. Approximately 20- and 40-fold decrease affinities for ATP and mevalonate, respectively.
up seq anno comments: No change in protein stability. Loss of kinase activity. Normal affinities for ATP and mevalonate.
up seq anno comments: No change in protein stability. No effect on kinase activity.
up seq anno comments: No change in protein stability. Weak decrease in kinase activity. Approximately 2-fold decrease in Vmax. Approximately 2-fold decrease affinity for ATP and mevalonate.
up seq anno comments: No effect on kinase activity. Approximately 2- and 3-fold decrease affinities for ATP and mevalonate, respectively.
up seq anno comments: No effect on kinase activity. Approximately 4- and 5-fold decrease affinities for ATP and mevalonate, respectively.
up seq anno comments: No effect on kinase activity. Approximately 4- and 8-fold decrease affinities for ATP and mevalonate, respectively.
up seq anno comments: No effect on kinase activity. Approximately 4-fold increase affinity for ATP. Normal affinity for mevalonate.
up seq anno comments: Proton acceptor
up seq anno comments: Proton donor
up seq anno feature ids: PRO_0000156657
up seq anno feature ids: VAR_004022
up seq anno feature ids: VAR_004023
up seq anno feature ids: VAR_004024
up seq anno feature ids: VAR_004025
up seq anno feature ids: VAR_004026
up seq anno feature ids: VAR_004027
up seq anno feature ids: VAR_009068
up seq anno feature ids: VAR_010956
up seq anno feature ids: VAR_010957
up seq anno feature ids: VAR_010958
up seq anno feature ids: VAR_010959
up seq anno feature ids: VAR_010960
up seq anno feature ids: VAR_010961
up seq anno feature ids: VAR_010962
up seq anno feature ids: VAR_010963
up seq anno feature ids: VAR_010964
up seq anno feature ids: VAR_010965
up seq anno feature ids: VAR_010966
up seq anno feature ids: VAR_010967
up seq anno feature ids: VAR_010968
up seq anno feature ids: VAR_029519
up seq anno feature ids: VAR_029520
up seq anno feature ids: VAR_029521
up seq anno feature ids: VAR_029522
up seq anno feature ids: VAR_029523
up seq anno feature ids: VAR_029524
up seq anno feature ids: VAR_029525
up seq anno feature ids: VAR_029526
up seq anno feature ids: VAR_029527
up seq anno feature ids: VAR_075036
up seq anno feature ids: VAR_075037
up seq anno feature ids: VAR_075038
up seq anno feature ids: VAR_075039
up seq anno feature ids: VAR_075040

9606:ZNF174
gene id: 9606:ZNF174
uniprot id: I3L2H2
uniprot id: Q15697
up 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 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: 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 2
up seq anno comments: C2H2-type 3
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: Polar residues
up seq anno comments: SCAN box
up seq anno comments: Zinc finger protein 174
up seq anno feature ids: PRO_0000047439
up seq anno feature ids: VSP_006897
up seq anno feature ids: VSP_006898

9606:UBXN7
gene id: 9606:UBXN7
uniprot id: O94888
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 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: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes interaction with VCP/p97.
up seq anno comments: Basic and acidic residues
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: N-acetylalanine
up seq anno comments: No effect on interactions with CUL2 and HIF1A.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno comments: Severely reduces interaction with neddylated CUL2.
up seq anno comments: UBA
up seq anno comments: UBX
up seq anno comments: UBX domain-containing protein 7
up seq anno comments: UIM
up seq anno feature ids: PRO_0000211035

9606:SLC5A10
gene id: 9606:SLC5A10
uniprot id: A0PJK1
up 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 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: Cytoplasmic
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 3 and isoform 4.
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: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Sodium/glucose cotransporter 5
up seq anno feature ids: PRO_0000311211
up seq anno feature ids: VAR_052493
up seq anno feature ids: VSP_029416
up seq anno feature ids: VSP_029417
up seq anno feature ids: VSP_029418
up seq anno feature ids: VSP_029419
up seq anno feature ids: VSP_045061

9606:DEFB107B
gene id: 9606:DEFB107B
uniprot id: Q8IZN7
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno labels: Disulfide Bond
up seq anno labels: Peptide
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno comments: Beta-defensin 107
up seq anno feature ids: PRO_0000006979

9606:FAM217A
gene id: 9606:FAM217A
uniprot id: Q8IXS0
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno comments: Protein FAM217A
up seq anno feature ids: PRO_0000089540
up seq anno feature ids: VAR_023207
up seq anno feature ids: VAR_056801
up seq anno feature ids: VAR_056802
up seq anno feature ids: VAR_056803
up seq anno feature ids: VAR_056804

9606:C4orf17
gene id: 9606:C4orf17
uniprot id: Q53FE4
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 labels: Chain
up seq anno labels: Compositionally Biased 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: In isoform 2.
up seq anno comments: Polar residues
up seq anno comments: Uncharacterized protein C4orf17
up seq anno feature ids: PRO_0000089433
up seq anno feature ids: VAR_028110
up seq anno feature ids: VAR_028111
up seq anno feature ids: VAR_028112
up seq anno feature ids: VSP_056907
up seq anno feature ids: VSP_056908

9606:PPP1CC
gene id: 9606:PPP1CC
uniprot id: A0A024RBP2
uniprot id: P36873
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: Secondary Structure
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: 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 microcystin toxin.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of activity.
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphothreonine
up seq anno comments: Proton donor
up seq anno comments: Removed
up seq anno comments: SER_THR_PHOSPHATASE
up seq anno comments: Serine/threonine-protein phosphatase PP1-gamma catalytic subunit
up seq anno feature ids: PRO_0000058787
up seq anno feature ids: VAR_051734
up seq anno feature ids: VSP_005094

9606:PCDHGA8
gene id: 9606:PCDHGA8
uniprot id: Q9Y5G5
up 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 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: 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: 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:LRIT2
gene id: 9606:LRIT2
uniprot id: A6NDA9
up 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 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: Repeat
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: Basic and acidic residues
up seq anno comments: Fibronectin type-III
up seq anno comments: Helical
up seq anno comments: Ig-like
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: LRRCT
up seq anno comments: LRRNT
up seq anno comments: Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 2
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000309344
up seq anno feature ids: VAR_036935
up seq anno feature ids: VAR_036936
up seq anno feature ids: VAR_036937
up seq anno feature ids: VAR_036938
up seq anno feature ids: VAR_036939
up seq anno feature ids: VSP_054539

9606:POTEI
gene id: 9606:POTEI
uniprot id: P0CG38
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: 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: Basic and acidic residues
up seq anno comments: POTE ankyrin domain family member I
up seq anno feature ids: PRO_0000395413

9606:FADD
gene id: 9606:FADD
uniprot id: Q13158
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: Secondary Structure
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: Sequence Conflict
up seq anno labels: Sequence 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: DED
up seq anno comments: Death
up seq anno comments: Decreased interaction with FAS.
up seq anno comments: FAS-associated death domain protein
up seq anno comments: In IEHDCM; reduced folding stability as measured by differential scanning calorimetry of the mutant protein; impairs interaction with FAS.
up seq anno comments: Loss of interaction with CASP8.
up seq anno comments: Loss of interaction with CASP8. Abolishes induction of apoptosis. Decreased interaction with FAS.
up seq anno comments: Loss of interaction with FAS.
up seq anno comments: Loss of interaction with FAS. Loss of self-association. Abolishes induction of apoptosis.
up seq anno comments: Loss of self-association.
up seq anno comments: Phosphoserine
up seq anno comments: Strongly decreased interaction with FAS.
up seq anno feature ids: PRO_0000191279
up seq anno feature ids: VAR_065124

9606:INPPL1
gene id: 9606:INPPL1
uniprot id: O15357
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: Secondary Structure
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: 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 but not phosphorylation upon FCGR2A clustering.
up seq anno comments: Abolishes interaction with SH3YL1.
up seq anno comments: Abolishes interaction with p130Cas/BCAR1 and its ability to induce increased adhesion. Abolishes phosphorylation upon FCGR2A clustering.
up seq anno comments: Associated with susceptibility to NIDDM.
up seq anno comments: Basic and acidic residues
up seq anno comments: In OPSMD.
up seq anno comments: In isoform 2.
up seq anno comments: Inducer a strong reduction of phosphorylation upon re-plating on collagen I.
up seq anno comments: NPXY motif
up seq anno comments: Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Phosphotyrosine; by SRC
up seq anno comments: Pro residues
up seq anno comments: Reduces PDGF-stimulated tyrosine phosphorylation and association with SHC1.
up seq anno comments: SAM
up seq anno comments: SH2
up seq anno comments: SH3-binding
up seq anno feature ids: PRO_0000302870
up seq anno feature ids: VAR_034980
up seq anno feature ids: VAR_034981
up seq anno feature ids: VAR_034982
up seq anno feature ids: VAR_034983
up seq anno feature ids: VAR_034984
up seq anno feature ids: VAR_069586
up seq anno feature ids: VAR_069587
up seq anno feature ids: VAR_069588
up seq anno feature ids: VAR_069589
up seq anno feature ids: VSP_027985

9606:FOXD4L1
gene id: 9606:FOXD4L1
uniprot id: B3KVK3
uniprot id: Q9NU39
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Domain Extent
up seq anno labels: Sequence Variant
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Fork-head
up seq anno comments: Forkhead box protein D4-like 1
up seq anno feature ids: PRO_0000091824
up seq anno feature ids: VAR_059299

9606:TBX10
gene id: 9606:TBX10
uniprot id: O75333
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Polar residues
up seq anno comments: T-box
up seq anno comments: T-box transcription factor TBX10
up seq anno feature ids: PRO_0000184441
up seq anno feature ids: VAR_021984
up seq anno feature ids: VAR_052262

9606:PRR14
gene id: 9606:PRR14
uniprot id: A0A024QZB5
uniprot id: Q9BWN1
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 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: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Increased binding to GRB2 and enhanced cell proliferation.
up seq anno comments: Loss of heterochromatin association during interphase and loss of chromatin association during anaphase.
up seq anno comments: Loss of heterochromatin association. Loss of interaction with CBX5.
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: Proline-rich protein 14
up seq anno comments: Tantalus
up seq anno feature ids: PRO_0000307269
up seq anno feature ids: VAR_035389

9606:RHBDD2
gene id: 9606:RHBDD2
uniprot id: Q6NTF9
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 labels: Chain
up seq anno labels: Compositionally Biased 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: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Polar residues
up seq anno comments: Rhomboid domain-containing protein 2
up seq anno feature ids: PRO_0000254596
up seq anno feature ids: VAR_051581
up seq anno feature ids: VSP_055407
up seq anno feature ids: VSP_055608

9606:SPATA3
gene id: 9606:SPATA3
uniprot id: Q8NHX4
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Spermatogenesis-associated protein 3
up seq anno feature ids: PRO_0000072174
up seq anno feature ids: VAR_070808

9606:CTSC
gene id: 9606:CTSC
uniprot id: P53634
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: Secondary Structure
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: 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: Dipeptidyl peptidase 1 exclusion domain chain
up seq anno comments: Dipeptidyl peptidase 1 heavy chain
up seq anno comments: Dipeptidyl peptidase 1 light chain
up seq anno comments: In AP1.
up seq anno comments: In HMS and PLS.
up seq anno comments: In PLS and AP1.
up seq anno comments: In PLS.
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_0000026338
up seq anno feature ids: PRO_0000026339
up seq anno feature ids: PRO_0000026340
up seq anno feature ids: PRO_0000026341
up seq anno feature ids: VAR_009541
up seq anno feature ids: VAR_009542
up seq anno feature ids: VAR_009543
up seq anno feature ids: VAR_009544
up seq anno feature ids: VAR_009545
up seq anno feature ids: VAR_009546
up seq anno feature ids: VAR_016933
up seq anno feature ids: VAR_016934
up seq anno feature ids: VAR_016935
up seq anno feature ids: VAR_016936
up seq anno feature ids: VAR_016943
up seq anno feature ids: VAR_016944
up seq anno feature ids: VAR_016945
up seq anno feature ids: VAR_016946
up seq anno feature ids: VAR_019035
up seq anno feature ids: VAR_019036
up seq anno feature ids: VAR_019037
up seq anno feature ids: VAR_019038
up seq anno feature ids: VAR_019039
up seq anno feature ids: VAR_019040
up seq anno feature ids: VAR_019041
up seq anno feature ids: VAR_019042
up seq anno feature ids: VAR_019043
up seq anno feature ids: VAR_019044
up seq anno feature ids: VAR_019045
up seq anno feature ids: VAR_019046
up seq anno feature ids: VAR_019047
up seq anno feature ids: VAR_019048
up seq anno feature ids: VAR_027249
up seq anno feature ids: VAR_027250
up seq anno feature ids: VAR_039686
up seq anno feature ids: VSP_039123
up seq anno feature ids: VSP_039124
up seq anno feature ids: VSP_043232
up seq anno feature ids: VSP_043233

9606:AGAP9
gene id: 9606:AGAP9
uniprot id: Q5VTM2
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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 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: 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:H4C9
gene id: 9606:H4C9
uniprot id: B2R4R0
uniprot id: P62805
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: Secondary Structure
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: 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: 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 TEVANED1.
up seq anno comments: In TEVANED1; 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 TEVANED2 and TEVANED3; unknown pathological significance; does not affect early development when expressed in zebrafish embryos.
up seq anno comments: In TEVANED2; results in severe early developmental defects when expressed in zebrafish embryos.
up seq anno comments: In TEVANED3.
up seq anno comments: In TEVANED3; results in early developmental defects when expressed in zebrafish embryos.
up seq anno comments: In TEVANED4; results in early developmental defects when expressed in zebrafish embryos.
up seq anno comments: In TEVANED4; 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: TAF
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
up seq anno feature ids: VAR_086993
up seq anno feature ids: VAR_086994
up seq anno feature ids: VAR_086995
up seq anno feature ids: VAR_086996
up seq anno feature ids: VAR_086997
up seq anno feature ids: VAR_086998
up seq anno feature ids: VAR_086999
up seq anno feature ids: VAR_087000
up seq anno feature ids: VAR_087001
up seq anno feature ids: VAR_087002
up seq anno feature ids: VAR_087003
up seq anno feature ids: VAR_087004
up seq anno feature ids: VAR_087005

9606:UCN
gene id: 9606:UCN
uniprot id: P55089
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: Secondary Structure
up seq anno labels: Helix
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 comments: Reduced affinity for CRHR1.
up seq anno comments: Reduced affinity for CRHR2.
up seq anno comments: Strongly reduced affinity for CRHR2.
up seq anno comments: Urocortin
up seq anno comments: Valine amide
up seq anno feature ids: PRO_0000006233
up seq anno feature ids: PRO_0000006234

9606:PURA
gene id: 9606:PURA
uniprot id: Q00577
up 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 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: Sequence Variant
up seq anno comments: In NEDRIHF.
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: Transcriptional activator protein Pur-alpha
up seq anno feature ids: PRO_0000097107
up seq anno feature ids: VAR_072698
up seq anno feature ids: VAR_072699
up seq anno feature ids: VAR_072700
up seq anno feature ids: VAR_072701
up seq anno feature ids: VAR_072702
up seq anno feature ids: VAR_072703
up seq anno feature ids: VAR_072704
up seq anno feature ids: VAR_073993
up seq anno feature ids: VAR_073994

9606:BCL9
gene id: 9606:BCL9
uniprot id: A0A024QYY4
uniprot id: O00512
uniprot id: Q1JQ81
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: Secondary Structure
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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno comments: Abolishes interaction with CTNNB1.
up seq anno comments: Abolishes interaction with CTNNB1; when associated with A-366.
up seq anno comments: Abolishes interaction with CTNNB1; when associated with A-369.
up seq anno comments: Asymmetric dimethylarginine
up seq anno comments: B-cell CLL/lymphoma 9 protein
up seq anno comments: BCL9
up seq anno comments: Basic and acidic residues
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 feature ids: PRO_0000064885
up seq anno feature ids: VAR_046545
up seq anno feature ids: VAR_046546

9606:OR8I2
gene id: 9606:OR8I2
uniprot id: Q8N0Y5
up 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 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 8I2
up seq anno feature ids: PRO_0000150668
up seq anno feature ids: VAR_034266
up seq anno feature ids: VAR_034267

9606:TM7SF2
gene id: 9606:TM7SF2
uniprot id: A0A024R577
uniprot id: O76062
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: 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 labels: Transmembrane
up seq anno comments: Delta(14)-sterol reductase TM7SF2
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000207500
up seq anno feature ids: VAR_012716
up seq anno feature ids: VAR_052153
up seq anno feature ids: VSP_017898

9606:IRGC
gene id: 9606:IRGC
uniprot id: J7NNX4
uniprot id: Q6NXR0
up 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: 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: IRG-type G
up seq anno comments: Interferon-inducible GTPase 5
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000285265
up seq anno feature ids: VAR_032008

9606:KDM4E
gene id: 9606:KDM4E
uniprot id: B2RXH2
up 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 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: Strand
up seq anno labels: Turn
up seq anno comments: JmjC
up seq anno comments: JmjN
up seq anno comments: Lysine-specific demethylase 4E
up seq anno feature ids: PRO_0000395404
up seq anno feature ids: VAR_063402
up seq anno feature ids: VAR_063403
up seq anno feature ids: VAR_063404
up seq anno feature ids: VAR_063405

9606:BFSP1
gene id: 9606:BFSP1
uniprot id: B7Z999
uniprot id: B7ZAD2
uniprot id: Q12934
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 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: Lipid Binding
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: Abolishes cleavage by CASP2.
up seq anno comments: Basic and acidic residues
up seq anno comments: Filensin
up seq anno comments: Filensin C-terminal fragment
up seq anno comments: Filensin N-terminal fragment
up seq anno comments: IF rod
up seq anno comments: In CTRCT33.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-acetylalanine
up seq anno comments: N-myristoyl glycine
up seq anno comments: No effect on cleavage.
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000063847
up seq anno feature ids: PRO_0000448670
up seq anno feature ids: PRO_0000448671
up seq anno feature ids: VAR_024492
up seq anno feature ids: VAR_036683
up seq anno feature ids: VAR_078861
up seq anno feature ids: VSP_024921
up seq anno feature ids: VSP_024922
up seq anno feature ids: VSP_055064

9606:KIF16B
gene id: 9606:KIF16B
uniprot id: A0A140VK74
uniprot id: A0A1B0GTU3
uniprot id: Q96L93
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: Secondary Structure
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: 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 comments: Abolishes PtdIns(3)P-binding.
up seq anno comments: FHA
up seq anno comments: Impairs plus end-directed microtubule-dependent motor activity, leading to impair EGFR recycling.
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: Induces a 3-fold decrease in PtdIns(3)P-binding; when associated with A-1225 and A-1229.
up seq anno comments: Induces a 3-fold decrease in PtdIns(3)P-binding; when associated with A-1225 and A-1232.
up seq anno comments: Induces a 3-fold decrease in PtdIns(3)P-binding; when associated with A-1229 and A-1232.
up seq anno comments: Induces a 30-fold decrease in PtdIns(3)P-binding.
up seq anno comments: Induces a 5-fold decrease in PtdIns(3)P-binding and abolishes endosome localization. Induces a 25-fold decrease in PtdIns(3)P-binding; when associated with A-1248.
up seq anno comments: Induces a 6-fold decrease in PtdIns(3)P-binding.
up seq anno comments: Induces a 7-fold decrease in PtdIns(3)P-binding and abolishes endosome localization. Induces a 25-fold decrease in PtdIns(3)P-binding; when associated with A-1249.
up seq anno comments: Kinesin motor
up seq anno comments: Kinesin-like protein KIF16B
up seq anno comments: PX
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000125466
up seq anno feature ids: VAR_019396
up seq anno feature ids: VAR_019397
up seq anno feature ids: VAR_019398
up seq anno feature ids: VAR_036218
up seq anno feature ids: VAR_049700
up seq anno feature ids: VAR_065248
up seq anno feature ids: VSP_010851
up seq anno feature ids: VSP_010852
up seq anno feature ids: VSP_015858
up seq anno feature ids: VSP_041318

9606:COMMD1
gene id: 9606:COMMD1
uniprot id: Q8N668
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: Secondary Structure
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: Mutagenesis Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: COMM
up seq anno comments: COMM domain-containing protein 1
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylalanine
up seq anno comments: Reduces copper-induced fluorescence change.
up seq anno comments: Removed
up seq anno feature ids: PRO_0000077384
up seq anno feature ids: VSP_055532

9606:DPH7
gene id: 9606:DPH7
uniprot id: Q9BTV6
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
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: 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:CMBL
gene id: 9606:CMBL
uniprot id: Q96DG6
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: Site
up seq anno labels: Active 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: 70% inhibition of enzymatic activity.
up seq anno comments: 97% inhibition of enzymatic activity.
up seq anno comments: Carboxymethylenebutenolidase homolog
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 feature ids: PRO_0000308188
up seq anno feature ids: VAR_036751

9606:SLC9A1
gene id: 9606:SLC9A1
uniprot id: B2RAH2
uniprot id: P19634
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: 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: 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 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: Almost complete loss of activity.
up seq anno comments: Almost complete loss of activity. Reduces membrane localization.
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Helical; Name=M1
up seq anno comments: Helical; Name=M10
up seq anno comments: Helical; Name=M11
up seq anno comments: Helical; Name=M12
up seq anno comments: Helical; Name=M2
up seq anno comments: Helical; Name=M3
up seq anno comments: Helical; Name=M4
up seq anno comments: Helical; Name=M5
up seq anno comments: Helical; Name=M6
up seq anno comments: Helical; Name=M7
up seq anno comments: Helical; Name=M8
up seq anno comments: Helical; Name=M9
up seq anno comments: In LIKNS; causes reduced expression of the mutant protein; hypoglycosylated; does not localize properly at the plasma membrane; small residual activity.
up seq anno comments: In LIKNS; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: Inhibits interaction with CHP1 and the exchange activity. CHPI does not localize at the cell membrane.
up seq anno comments: Inhibits interaction with CHP1 and the exchange activity. CHPI does not localize at the cell membrane. Abolishes interaction with TESC.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: NEXCaM_BD
up seq anno comments: Na_H_Exchanger
up seq anno comments: Name=H10
up seq anno comments: No effect.
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: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Reduces activity.
up seq anno comments: Reduces interaction with CHP1 and the exchange activity; when associated with Q-518.
up seq anno comments: Reduces interaction with CHP1 and the exchange activity; when associated with Q-522.
up seq anno comments: Reduces interaction with CHP1 and the exchange activity; when associated with Q-526.
up seq anno comments: Reduces interaction with CHP1 and the exchange activity; when associated with Q-527.
up seq anno comments: Reduces interaction with CHP1 and the exchange activity; when associated with Q-530.
up seq anno comments: Reduces interaction with CHP1 and the exchange activity; when associated with Q-531.
up seq anno comments: Sodium/hydrogen exchanger 1
up seq anno comments: Strongly reduced interaction with CHP2.
up seq anno feature ids: PRO_0000052347
up seq anno feature ids: VAR_050231
up seq anno feature ids: VAR_073439
up seq anno feature ids: VAR_082153
up seq anno feature ids: VSP_022101
up seq anno feature ids: VSP_022102

9606:LRBA
gene id: 9606:LRBA
uniprot id: P50851
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: 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: 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: Transmembrane
up seq anno labels: Turn
up seq anno comments: BEACH
up seq anno comments: BEACH-type PH
up seq anno comments: Helical
up seq anno comments: In CVID8.
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Lipopolysaccharide-responsive and beige-like anchor protein
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 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_0000051068
up seq anno feature ids: VAR_022028
up seq anno feature ids: VAR_035883
up seq anno feature ids: VAR_035884
up seq anno feature ids: VAR_035885
up seq anno feature ids: VAR_057605
up seq anno feature ids: VAR_057606
up seq anno feature ids: VAR_057607
up seq anno feature ids: VAR_057608
up seq anno feature ids: VAR_057609
up seq anno feature ids: VAR_057610
up seq anno feature ids: VAR_068690
up seq anno feature ids: VSP_038225
up seq anno feature ids: VSP_038226

9606:STARD3NL
gene id: 9606:STARD3NL
uniprot id: A0A024RA89
uniprot id: O95772
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 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: 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: FFAT
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Loss of interaction with MOSPD2.
up seq anno comments: MENTAL
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno comments: STARD3 N-terminal-like protein
up seq anno feature ids: PRO_0000021666
up seq anno feature ids: VSP_018819

9606:GRWD1
gene id: 9606:GRWD1
uniprot id: Q9BQ67
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Glutamate-rich WD repeat-containing protein 1
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_0000051011
up seq anno feature ids: VAR_046334

9606:MARK2
gene id: 9606:MARK2
uniprot id: A0A140VJP1
uniprot id: A8K2S4
uniprot id: Q7KZI7
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: Secondary Structure
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: 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: Basic and acidic residues
up seq anno comments: In isoform 13, isoform 14, isoform 15 and isoform 16.
up seq anno comments: In isoform 15.
up seq anno comments: In isoform 2, isoform 3, isoform 6, isoform 7, isoform 10, isoform 12, isoform 13 and isoform 14.
up seq anno comments: In isoform 2, isoform 4, isoform 5, isoform 7, isoform 9, isoform 10, isoform 13, isoform 15 and isoform 16.
up seq anno comments: In isoform 3, isoform 4, isoform 7, isoform 8, isoform 13, isoform 14 and isoform 16.
up seq anno comments: In isoform 5, isoform 11, isoform 10 and isoform 12.
up seq anno comments: KA1
up seq anno comments: Loss of membrane dissociation and binding to YWHAZ.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CaMK1
up seq anno comments: Phosphoserine; by GSK3-beta
up seq anno comments: Phosphoserine; by autocatalysis
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by CaMK1
up seq anno comments: Phosphothreonine; by LKB1 and TAOK1
up seq anno comments: Phosphothreonine; by PKC/PRKCZ
up seq anno comments: Phosphothreonine; by autocatalysis
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 MARK2
up seq anno comments: UBA
up seq anno feature ids: PRO_0000086301
up seq anno feature ids: VSP_039872
up seq anno feature ids: VSP_041853
up seq anno feature ids: VSP_051705
up seq anno feature ids: VSP_051706
up seq anno feature ids: VSP_051707
up seq anno feature ids: VSP_051708

9606:RNPC3
gene id: 9606:RNPC3
uniprot id: Q96LT9
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: Secondary Structure
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: 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: In IGHD5; impairs binding to U12 and U6atac small nuclear RNAs; leads to a partial defect in the folding of RRM 2 domain and reduced stability of the full-length protein.
up seq anno comments: In IGHD5; reduced expression due to nonsense-mediated mRNA decay; impairs binding to U12 and U6atac small nuclear RNAs.
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: RNA-binding region-containing protein 3
up seq anno comments: RRM 1
up seq anno comments: RRM 2
up seq anno feature ids: PRO_0000311112
up seq anno feature ids: VAR_081540
up seq anno feature ids: VAR_081541
up seq anno feature ids: VSP_053413

9606:SDR39U1
gene id: 9606:SDR39U1
uniprot id: F6RWC2
uniprot id: Q86TZ5
uniprot id: Q9NRG7
up 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 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: DUF1731
up seq anno comments: Epimerase family protein SDR39U1
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000279748
up seq anno feature ids: VAR_057465
up seq anno feature ids: VAR_057466
up seq anno feature ids: VAR_060623
up seq anno feature ids: VAR_060624
up seq anno feature ids: VSP_060049
up seq anno feature ids: VSP_060050

9606:FGL1
gene id: 9606:FGL1
uniprot id: Q08830
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 labels: Chain
up seq anno labels: Coiled-Coil
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: Fibrinogen C-terminal
up seq anno comments: Fibrinogen-like protein 1
up seq anno comments: Interchain
up seq anno feature ids: PRO_0000009105
up seq anno feature ids: VAR_024002
up seq anno feature ids: VAR_024003
up seq anno feature ids: VAR_024004
up seq anno feature ids: VAR_024005
up seq anno feature ids: VAR_024006
up seq anno feature ids: VAR_024007
up seq anno feature ids: VAR_049067
up seq anno feature ids: VAR_049068

9606:CAPZB
gene id: 9606:CAPZB
uniprot id: P47756
uniprot id: Q7L4N0
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 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: Splice Variant
up seq anno comments: F-actin-capping protein subunit beta
up seq anno comments: In isoform 2.
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 feature ids: PRO_0000204634
up seq anno feature ids: VSP_061615

9606:GCLM
gene id: 9606:GCLM
uniprot id: P48507
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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 comments: Glutamate--cysteine ligase regulatory subunit
up seq anno comments: In isoform 2.
up seq anno comments: N6-acetyllysine
up seq anno feature ids: PRO_0000192573
up seq anno feature ids: VAR_021063
up seq anno feature ids: VSP_057008

9606:AADACL3
gene id: 9606:AADACL3
uniprot id: Q5VUY0
up 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 labels: Active Site
up seq anno labels: Chain
up seq anno labels: Motif
up seq anno labels: Sequence Variant
up seq anno comments: Arylacetamide deacetylase-like 3
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_0000265936
up seq anno feature ids: VAR_060665
up seq anno feature ids: VAR_060666
up seq anno feature ids: VAR_060667
up seq anno feature ids: VAR_060668
up seq anno feature ids: VAR_060670
up seq anno feature ids: VAR_060671

9606:C1R
gene id: 9606:C1R
uniprot id: P00736
up 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: 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: 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:ZNF597
gene id: 9606:ZNF597
uniprot id: Q96LX8
up 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 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 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: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 597
up seq anno feature ids: PRO_0000047687
up seq anno feature ids: VAR_033581

9606:RCCD1
gene id: 9606:RCCD1
uniprot id: A0A024RC72
uniprot id: A6NED2
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 labels: Chain
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 comments: (3R)-3-hydroxyarginine
up seq anno comments: Abolishes hydroxylation by KDM8.
up seq anno comments: RCC1
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 domain-containing protein 1
up seq anno feature ids: PRO_0000337973
up seq anno feature ids: VAR_043727

9606:NCF4
gene id: 9606:NCF4
uniprot id: A0A494BZS1
uniprot id: Q15080
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: Secondary Structure
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: 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 comments: Abolishes interaction with membranes enriched in phosphatidylinositol 3-phosphate.
up seq anno comments: In CGD3; the protein remains cytosolic, does not localize to phagosomes or endosomes and is unable to bind phosphatidylinositol 3-phosphate (PtdIns(3)P) in a lipid-binding assay; unable to rescue the NADPH-oxidase defect of NCF4 functionally null cells.
up seq anno comments: In isoform 3.
up seq anno comments: Neutrophil cytosol factor 4
up seq anno comments: No effect on phosphorylation.
up seq anno comments: PB1
up seq anno comments: PX
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Reduces phosphorylation.
up seq anno comments: SH3
up seq anno comments: Slightly reduces interaction with membranes enriched in phosphatidylinositol 3-phosphate.
up seq anno comments: Strongly reduces interaction with membranes enriched in phosphatidylinositol 3-phosphate.
up seq anno feature ids: PRO_0000096764
up seq anno feature ids: VAR_009314
up seq anno feature ids: VAR_034136
up seq anno feature ids: VAR_065949
up seq anno feature ids: VAR_082885
up seq anno feature ids: VSP_042681

9606:KCND3
gene id: 9606:KCND3
uniprot id: A0A024R0C6
uniprot id: Q9UK17
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: Secondary Structure
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: Helix
up seq anno labels: INTRAMEM
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: BTB
up seq anno comments: Cytoplasmic
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 BRGDA9; unknown pathological significance; does not affect the electrophysiological properties of the channel.
up seq anno comments: In BRGDA9; unknown pathological significance; gain of function mutation.
up seq anno comments: In SCA19.
up seq anno comments: In SCA19; loss of channel activity.
up seq anno comments: In SCA19; results in reduced channel activity consistent with impaired cell surface expression of the mutant protein.
up seq anno comments: In SCA19; unknown pathological significance; causes reduced channel activity.
up seq anno comments: In SCA19; unknown pathological significance; results in impaired cell surface expression.
up seq anno comments: In a colorectal cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CaMK2D
up seq anno comments: Phosphothreonine
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 3
up seq anno comments: Pro residues
up seq anno comments: Selectivity filter
up seq anno feature ids: PRO_0000054068
up seq anno feature ids: PRO_5001536553
up seq anno feature ids: VAR_035775
up seq anno feature ids: VAR_067694
up seq anno feature ids: VAR_067695
up seq anno feature ids: VAR_067696
up seq anno feature ids: VAR_070785
up seq anno feature ids: VAR_070786
up seq anno feature ids: VAR_070787
up seq anno feature ids: VAR_070788
up seq anno feature ids: VAR_070789
up seq anno feature ids: VAR_070790
up seq anno feature ids: VAR_070791
up seq anno feature ids: VAR_073831
up seq anno feature ids: VAR_079709
up seq anno feature ids: VSP_008826

9606:ZBTB37
gene id: 9606:ZBTB37
uniprot id: B7Z7Z4
uniprot id: Q5TC79
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: BTB
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: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Polar residues
up seq anno comments: Zinc finger and BTB domain-containing protein 37
up seq anno feature ids: PRO_0000047741
up seq anno feature ids: VSP_014440
up seq anno feature ids: VSP_014441
up seq anno feature ids: VSP_014442

9606:PIN4
gene id: 9606:PIN4
uniprot id: Q9Y237
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: Secondary Structure
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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes phosphorylation and reduces strongly nuclear localization.
up seq anno comments: Does not abolish nuclear localization and reduces DNA-binding ability.
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: Peptidyl-prolyl cis-trans isomerase NIMA-interacting 4
up seq anno comments: Phosphoserine; by CK2
up seq anno comments: PpiC
up seq anno feature ids: PRO_0000193438
up seq anno feature ids: VAR_082896
up seq anno feature ids: VAR_082897
up seq anno feature ids: VSP_037754
up seq anno feature ids: VSP_046122

9606:NECAB1
gene id: 9606:NECAB1
uniprot id: Q8N987
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: 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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: ABM
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: N-terminal EF-hand calcium-binding protein 1
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000282609
up seq anno feature ids: VSP_024214

9606:KLC3
gene id: 9606:KLC3
uniprot id: A0A024R0V3
uniprot id: Q6P597
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 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: Repeat
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: Kinesin light chain 3
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar 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: TPR 5
up seq anno feature ids: PRO_0000230785
up seq anno feature ids: VSP_017831
up seq anno feature ids: VSP_017832

9606:ASB11
gene id: 9606:ASB11
uniprot id: Q7Z670
uniprot id: Q8WXH4
up 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 labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
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 11
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: SOCS box
up seq anno feature ids: PRO_0000066944
up seq anno feature ids: VAR_048286
up seq anno feature ids: VAR_048287
up seq anno feature ids: VAR_069428
up seq anno feature ids: VSP_043087
up seq anno feature ids: VSP_047127

9606:CAPG
gene id: 9606:CAPG
uniprot id: B2R9S4
uniprot id: P40121
uniprot id: V9HW69
up 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 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:PBXIP1
gene id: 9606:PBXIP1
uniprot id: B4E0K4
uniprot id: Q96AQ6
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 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: 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: Basic and acidic residues
up seq anno comments: Helical
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: Pre-B-cell leukemia transcription factor-interacting protein 1
up seq anno comments: Reduces interaction with ESR1.
up seq anno feature ids: PRO_0000306115
up seq anno feature ids: VAR_035265
up seq anno feature ids: VAR_051263
up seq anno feature ids: VSP_028418
up seq anno feature ids: VSP_028419

9606:NXF3
gene id: 9606:NXF3
uniprot id: Q9H4D5
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 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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: In isoform 2.
up seq anno comments: Inactivates CRM1 binding; when associated with R-300.
up seq anno comments: Inactivates CRM1 binding; when associated with R-302.
up seq anno comments: NTF2
up seq anno comments: Nuclear RNA export factor 3
up seq anno comments: Polar residues
up seq anno comments: RRM
up seq anno feature ids: PRO_0000220534
up seq anno feature ids: VAR_050419
up seq anno feature ids: VSP_057068
up seq anno feature ids: VSP_057069
up seq anno feature ids: VSP_057070

9606:GDNF
gene id: 9606:GDNF
uniprot id: A0A0S2Z3T2
uniprot id: A0A0S2Z3V2
uniprot id: P39905
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: Secondary Structure
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: 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: Glial cell line-derived neurotrophic factor
up seq anno comments: In HSCR3.
up seq anno comments: In HSCR3; sporadic form.
up seq anno comments: In HSCR3; unknown pathological significance.
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: Interchain
up seq anno comments: May be a risk factor for Hirschsprung disease.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Risk factor for Hirschsprung disease.
up seq anno comments: TGF_BETA_2
up seq anno feature ids: PRO_0000034004
up seq anno feature ids: PRO_0000034005
up seq anno feature ids: PRO_5006608233
up seq anno feature ids: PRO_5006608250
up seq anno feature ids: VAR_009494
up seq anno feature ids: VAR_009495
up seq anno feature ids: VAR_009496
up seq anno feature ids: VAR_009497
up seq anno feature ids: VAR_018152
up seq anno feature ids: VSP_006420
up seq anno feature ids: VSP_026368
up seq anno feature ids: VSP_042298

9606:ZNF684
gene id: 9606:ZNF684
uniprot id: B3KSP5
uniprot id: Q5T5D7
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: 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: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 684
up seq anno feature ids: PRO_0000234003

9606:OR5AS1
gene id: 9606:OR5AS1
uniprot id: A0A126GVD4
uniprot id: Q8N127
up 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 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_RECEP_F1_2
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 5AS1
up seq anno feature ids: PRO_0000150580
up seq anno feature ids: VAR_034217
up seq anno feature ids: VAR_034218

9606:ABCC10
gene id: 9606:ABCC10
uniprot id: A0A024RD21
uniprot id: Q5T3U5
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: 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: 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
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 10
up seq anno comments: Basic and acidic residues
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:KARS1
gene id: 9606:KARS1
uniprot id: Q15046
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: Secondary Structure
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: 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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Almost complete loss of tRNA ligase activity.
up seq anno comments: Basic and acidic residues
up seq anno comments: Disrupts interaction with AIMP2 and the multisynthase complex.
up seq anno comments: Disrupts interaction with AIMP2 and the multisynthase complex. Increases production of diadenosine tetraphosphate (Ap4A). Almost complete loss of tRNA ligase activity.
up seq anno comments: Found in a patient with hypertrophic cardiomyopathy and mild intellectual disability together with proximal muscle weakness; unknown pathological significance.
up seq anno comments: In CMTRIB.
up seq anno comments: In CMTRIB; severely affects enzyme activity.
up seq anno comments: In DEAPLE and LEPID; decreases tRNA-lysine aminoacylation; induces protein aggregation; releases from the subunit complex; no effect on cytoplasmic location; no effect on oligomerization.
up seq anno comments: In DEAPLE and LEPID; reduces interaction with AIMP2. Reduces tRNA-lysine aminoacylation.
up seq anno comments: In DEAPLE; decreases tRNA-lysine aminoacylation; slightly induces protein aggregation; no effect on cytoplasmic location; no effect on oligomerization.
up seq anno comments: In DEAPLE; reduces interaction with AIMP2. Reduces tRNA-lysine aminoacylation.
up seq anno comments: In DEAPLE; unknown pathological significance.
up seq anno comments: In DFNB89.
up seq anno comments: In LEPID; decreases tRNA-lysine aminoacylation activity of both the mitochondrial and cytosolic forms. Does not rescue the developmental defects caused by KARS1 depletion in xenopus.
up seq anno comments: In LEPID; does not rescue the developmental defects caused by KARS1 depletion in xenopus.
up seq anno comments: In LEPID; unknown pathological significance.
up seq anno comments: In isoform Mitochondrial.
up seq anno comments: Induces protein aggregation. Releases from the subunit complex.
up seq anno comments: Loss of nuclear localization, but no effect on packaging into HIV-1.
up seq anno comments: Lysine--tRNA ligase
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphomimetic mutant that strongly enhances translocation into the nucleus and production of diadenosine tetraphosphate (Ap4A). Almost complete loss of tRNA ligase activity.
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: Strongly decreased tRNA ligase activity.
up seq anno comments: Strongly reduced production of diadenosine tetraphosphate (Ap4A). Reduced protein phosphorylation.
up seq anno feature ids: PRO_0000152765
up seq anno feature ids: VAR_016105
up seq anno feature ids: VAR_052640
up seq anno feature ids: VAR_064911
up seq anno feature ids: VAR_064912
up seq anno feature ids: VAR_070233
up seq anno feature ids: VAR_070234
up seq anno feature ids: VAR_079741
up seq anno feature ids: VAR_079742
up seq anno feature ids: VAR_079743
up seq anno feature ids: VAR_079744
up seq anno feature ids: VAR_079745
up seq anno feature ids: VAR_079746
up seq anno feature ids: VAR_085386
up seq anno feature ids: VAR_085387
up seq anno feature ids: VAR_085388
up seq anno feature ids: VAR_085389
up seq anno feature ids: VAR_085390
up seq anno feature ids: VAR_085391
up seq anno feature ids: VSP_038481

9606:DDOST
gene id: 9606:DDOST
uniprot id: A0A024RAD5
uniprot id: P39656
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 labels: Chain
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 48 kDa subunit
up seq anno comments: Helical
up seq anno comments: In CDG1R.
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_0000021957
up seq anno feature ids: VAR_047911
up seq anno feature ids: VAR_067544
up seq anno feature ids: VSP_055498
up seq anno feature ids: VSP_055499

9606:RGS21
gene id: 9606:RGS21
uniprot id: Q2M5E4
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: RGS
up seq anno comments: Regulator of G-protein signaling 21
up seq anno feature ids: PRO_0000271375

9606:TBC1D21
gene id: 9606:TBC1D21
uniprot id: Q8IYX1
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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: Rab-GAP TBC
up seq anno comments: TBC1 domain family member 21
up seq anno feature ids: PRO_0000208050
up seq anno feature ids: VAR_034544
up seq anno feature ids: VSP_053999

9606:METTL2B
gene id: 9606:METTL2B
uniprot id: Q6P1Q9
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: 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:PNP
gene id: 9606:PNP
uniprot id: P00491
uniprot id: V9HWH6
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: Secondary Structure
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: 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 PNPD.
up seq anno comments: N-acetylmethionine
up seq anno comments: PNP_UDP_1
up seq anno comments: Phosphoserine
up seq anno comments: Purine nucleoside phosphorylase
up seq anno comments: Reduces catalytic activity towards inosine, hypoxanthine, guanosine and guanine. Increases catalytic activity towards adenosine and adenine.
up seq anno comments: Reduces catalytic activity towards inosine.
up seq anno comments: Reduces catalytic activity.
up seq anno comments: Severe loss of catalytic activity.
up seq anno feature ids: PRO_0000184536
up seq anno feature ids: VAR_002243
up seq anno feature ids: VAR_002244
up seq anno feature ids: VAR_002245
up seq anno feature ids: VAR_002246
up seq anno feature ids: VAR_002247
up seq anno feature ids: VAR_010653

9606:UBE2I
gene id: 9606:UBE2I
uniprot id: A8K503
uniprot id: B0QYN7
uniprot id: P63279
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: Site
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: 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: 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: Glycyl thioester intermediate
up seq anno comments: Impairs binding to RANBP2.
up seq anno comments: Impairs binding to SUMO1 and catalytic activity.
up seq anno comments: Impairs catalytic activity.
up seq anno comments: Loss of enhancement of sumoylation by RWDD3. No effect on RWDD3 protein levels.
up seq anno comments: N-acetylserine
up seq anno comments: N6-acetyllysine
up seq anno comments: No effect on catalytic activity.
up seq anno comments: Phosphoserine; by CDK1
up seq anno comments: Removed
up seq anno comments: SUMO-conjugating enzyme UBC9
up seq anno comments: Slightly impairs binding to RANBP2.
up seq anno comments: UBC core
up seq anno feature ids: PRO_0000082454

9606:CTU1
gene id: 9606:CTU1
uniprot id: Q7Z7A3
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 labels: Chain
up seq anno labels: Modified Residue
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: Phosphoserine
up seq anno feature ids: PRO_0000282391
up seq anno feature ids: VAR_031402

9606:LYZ
gene id: 9606:LYZ
uniprot id: B2R4C5
uniprot id: P61626
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: Secondary Structure
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: 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-type lysozyme
up seq anno comments: GLYCOSYL_HYDROL_F22_1
up seq anno comments: In AMYL8.
up seq anno comments: Lysozyme C
up seq anno feature ids: PRO_0000018467
up seq anno feature ids: PRO_5014298326
up seq anno feature ids: VAR_004280
up seq anno feature ids: VAR_004281
up seq anno feature ids: VAR_012050

9606:LRRN2
gene id: 9606:LRRN2
uniprot id: A0A024R993
uniprot id: O75325
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 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: 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
up seq anno comments: Ig-like C2-type
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: LRRCT
up seq anno comments: LRRNT
up seq anno comments: Leucine-rich repeat neuronal protein 2
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000014849
up seq anno feature ids: PRO_5014214279
up seq anno feature ids: VAR_021921
up seq anno feature ids: VAR_021922
up seq anno feature ids: VAR_049898
up seq anno feature ids: VAR_049899
up seq anno feature ids: VAR_049900

9606:CEP57L1
gene id: 9606:CEP57L1
uniprot id: E5RFY4
uniprot id: Q8IYX8
up 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 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: Centrosomal protein CEP57L1
up seq anno comments: Cep57_CLD
up seq anno comments: Cep57_MT_bd
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000189534
up seq anno feature ids: VAR_052396
up seq anno feature ids: VSP_055660
up seq anno feature ids: VSP_055661

9606:ERVV-2
gene id: 9606:ERVV-2
uniprot id: B6SEH9
uniprot id: M9QSX5
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: 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: Endogenous retrovirus group V member 2 Env polyprotein
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000411001
up seq anno feature ids: PRO_5004102019

9606:SPTSSB
gene id: 9606:SPTSSB
uniprot id: Q6ZWB5
uniprot id: Q8NFR3
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: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Helical
up seq anno comments: Lumenal
up seq anno comments: Serine palmitoyltransferase small subunit B
up seq anno feature ids: PRO_0000239719

9606:MCOLN3
gene id: 9606:MCOLN3
uniprot id: Q8TDD5
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 labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: INTRAMEM
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: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Abolishes basal channel activity without affecting channel activation by a synthetic agonist; when associated with N-108 and N-111.
up seq anno comments: Abolishes basal channel activity without affecting channel activation by a synthetic agonist; when associated with N-108 and N-112.
up seq anno comments: Abolishes basal channel activity without affecting channel activation by a synthetic agonist; when associated with N-111 and N-112.
up seq anno comments: Abolishes channel activity.
up seq anno comments: Constitutive active channel; abolishes inhibition by lumenal H(+); increases the pore diameter.
up seq anno comments: Constitutive active channel; abolishes inhibition by lumenal H(+); retains the Ca(2+)-dependent inactivation of the Ca(2+) current. Decreases inhibition by lumenal H(+); when associated with A-252. Decreases inhibition by lumenal H(+); when associated with A-273.
up seq anno comments: Constitutive active channel; greatly impairs inhibition by lumenal Na(+).
up seq anno comments: Cytoplasmic
up seq anno comments: Decreases in Ca(2+) permeability and selectivity; decreases channel pore dynamic behavior.
up seq anno comments: Enhances endocytosis.
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Increases inhibition by lumenal H(+).
up seq anno comments: Increases inhibition by lumenal H(+). Decreases inhibition by lumenal H(+); when associated with A-283.
up seq anno comments: Mucolipin-3
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Nearly abolishes channel activation by a synthetic agonist.
up seq anno comments: Nearly abolishes channel activity; inhibits starvation-induced autophagy.
up seq anno comments: Pore-forming
up seq anno comments: Selectivity filter
up seq anno feature ids: PRO_0000215367
up seq anno feature ids: VSP_010823

9606:GOLGA6L4
gene id: 9606:GOLGA6L4
uniprot id: A6NEF3
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 comments: Golgin subfamily A member 6-like protein 4
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000332264

9606:SLC6A15
gene id: 9606:SLC6A15
uniprot id: A0A7P0T8I1
uniprot id: Q8IXG2
uniprot id: Q9H2J7
uniprot id: Q9NW50
up 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 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: 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 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-dependent neutral amino acid transporter B(0)AT2
up seq anno feature ids: PRO_0000214798
up seq anno feature ids: VAR_052065
up seq anno feature ids: VAR_052066
up seq anno feature ids: VSP_043030
up seq anno feature ids: VSP_043031
up seq anno feature ids: VSP_045192

9606:PAX2
gene id: 9606:PAX2
uniprot id: Q02962
uniprot id: Q5SZP1
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 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: 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: Found in a patient with bilateral optic nerve colobomas; uncertain pathological significance.
up seq anno comments: In FSGS7.
up seq anno comments: In FSGS7; decreased DNA-binding capability and transactivation ability.
up seq anno comments: In FSGS7; transactivation activity is dramatically decreased in presence of TLE4; dramatically enhances interaction with TLE4.
up seq anno comments: In PAPRS.
up seq anno comments: In PAPRS; the patient manifests oligomeganephronia and bilateral optic nerve coloboma.
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: Paired
up seq anno comments: Paired box protein Pax-2
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Probable disease-associated variant found in a patient with non-syndromic renal hypodysplasia.
up seq anno feature ids: PRO_0000050175
up seq anno feature ids: VAR_003788
up seq anno feature ids: VAR_003789
up seq anno feature ids: VAR_012442
up seq anno feature ids: VAR_012443
up seq anno feature ids: VAR_068079
up seq anno feature ids: VAR_068080
up seq anno feature ids: VAR_068081
up seq anno feature ids: VAR_068082
up seq anno feature ids: VAR_068083
up seq anno feature ids: VAR_068084
up seq anno feature ids: VAR_068085
up seq anno feature ids: VAR_068086
up seq anno feature ids: VAR_068087
up seq anno feature ids: VAR_068088
up seq anno feature ids: VAR_068089
up seq anno feature ids: VAR_068090
up seq anno feature ids: VAR_068091
up seq anno feature ids: VAR_068092
up seq anno feature ids: VAR_068093
up seq anno feature ids: VAR_068094
up seq anno feature ids: VAR_068095
up seq anno feature ids: VAR_068096
up seq anno feature ids: VAR_071937
up seq anno feature ids: VAR_071938
up seq anno feature ids: VAR_071939
up seq anno feature ids: VAR_071940
up seq anno feature ids: VAR_071941
up seq anno feature ids: VAR_071942
up seq anno feature ids: VAR_071943
up seq anno feature ids: VAR_071944
up seq anno feature ids: VAR_071945
up seq anno feature ids: VAR_071946
up seq anno feature ids: VAR_071947
up seq anno feature ids: VSP_002345
up seq anno feature ids: VSP_002346

9606:OGFRL1
gene id: 9606:OGFRL1
uniprot id: A0A3B3IRI0
uniprot id: Q5TC84
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: OGFr_N
up seq anno comments: Opioid growth factor receptor-like protein 1
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000314142
up seq anno feature ids: VAR_037842
up seq anno feature ids: VAR_037843

9606:EIF2D
gene id: 9606:EIF2D
uniprot id: P41214
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: Secondary Structure
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: 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: Eukaryotic translation initiation factor 2D
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylmethionine
up seq anno comments: PUA
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: SUI1
up seq anno comments: SWIB/MDM2
up seq anno feature ids: PRO_0000130611
up seq anno feature ids: VAR_052507
up seq anno feature ids: VSP_006300

9606:RPAIN
gene id: 9606:RPAIN
uniprot id: B3KTT3
uniprot id: Q86UA6
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 labels: Chain
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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: Abolishes sumoylation; when associated with R-114 and R-121.
up seq anno comments: Abolishes sumoylation; when associated with R-121 and R-142.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO); in isoform 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 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: In isoform 8.
up seq anno comments: In isoform 9.
up seq anno comments: Induces a strong decrease in sumoylation; when associated with N-103. Abolishes sumoylation; when associated with R-114 and R-142.
up seq anno comments: Phosphoserine
up seq anno comments: RIP-type
up seq anno comments: RPA-interacting protein
up seq anno comments: RPA_interact_N
up seq anno comments: Sumoylated and increases total protein sumoylation levels.
up seq anno feature ids: PRO_0000076299
up seq anno feature ids: VAR_023947
up seq anno feature ids: VSP_016402
up seq anno feature ids: VSP_016403
up seq anno feature ids: VSP_016404
up seq anno feature ids: VSP_016405
up seq anno feature ids: VSP_016406
up seq anno feature ids: VSP_016407
up seq anno feature ids: VSP_016408
up seq anno feature ids: VSP_016409
up seq anno feature ids: VSP_016410
up seq anno feature ids: VSP_045356
up seq anno feature ids: VSP_046795

9606:ZNF891
gene id: 9606:ZNF891
uniprot id: A8MT65
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: 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: C2H2-type 7
up seq anno comments: C2H2-type 8
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 891
up seq anno feature ids: PRO_0000349185

9606:ATG4B
gene id: 9606:ATG4B
uniprot id: B3KVU2
uniprot id: Q9Y4P1
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: Secondary Structure
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: 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: Abolished phosphorylation by ULK1; promotes hydrolase activity, leading to increased proteolytic activation and delipidation of ATG8 family proteins.
up seq anno comments: Complete loss of protease activity.
up seq anno comments: Cysteine protease ATG4B
up seq anno comments: Decreased phosphorylation by AKT2, leading to reduced proteolytic activation of ATG8 family proteins.
up seq anno comments: Decreased phosphorylation by AKT2; when associated with A-121.
up seq anno comments: Decreased phosphorylation by AKT2; when associated with A-262.
up seq anno comments: Decreased phosphorylation, leading to decreased hydrolase activity and autophagic flux. Does not affect interaction with ATG8 family proteins.
up seq anno comments: Does not affect S-nitrosylation. Does not affect formation of disulfide bonds.
up seq anno comments: Does not affect S-nitrosylation. Strongly decreased S-nitrosylation, leading to increased hydrolase activity and autophagic flux; when associated with S-189. Reduced formation of intrachain and interchain disulfide bonds in response to oxidation. Abolished formation of disulfide bonds, leading to increased autophagy; when associated with S-361.
up seq anno comments: Does not affect S-nitrosylation. Strongly decreased S-nitrosylation, leading to increased hydrolase activity and autophagic flux; when associated with S-292. Does not affect formation of disulfide bonds.
up seq anno comments: Does not affect formation of disulfide bonds.
up seq anno comments: In 2mLIR; decreased interaction with ATG8 family proteins MAP1LC3A, MAP1LC3B and MAP1LC3C. Decreased ability to mediate delipidation of ATG8 proteins conjugated to phosphatidylethanolamine (PE).
up seq anno comments: In isoform 2 and isoform 6.
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: Interchain (with C-292)
up seq anno comments: Interchain (with C-361)
up seq anno comments: LIR
up seq anno comments: N-acetylmethionine
up seq anno comments: Nucleophile
up seq anno comments: Peptidase_C54
up seq anno comments: Phospho-mimetic mutant; does not affect interaction with ATG8 family proteins.
up seq anno comments: Phospho-mimetic mutant; increased proteolytic activation of ATG8 family proteins.
up seq anno comments: Phospho-mimetic mutant; reduced hydrolase activity, leading to decreased proteolytic activation and delipidation of ATG8 family proteins.
up seq anno comments: Phospho-mimetic mutant; slightly increased interaction with ATG8 family proteins.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PKB/AKT1 and PKB/AKT2
up seq anno comments: Phosphoserine; by STK26
up seq anno comments: Phosphoserine; by ULK1
up seq anno comments: Reduced formation of intrachain and interchain disulfide bonds in response to oxidation. Abolished formation of disulfide bonds, leading to increased autophagy; when associated with S-292.
up seq anno comments: Reduces the redox sensitivity and retains activity in presence of H(2)O(2).
up seq anno comments: S-nitrosocysteine
up seq anno comments: Strongly reduced protease activity.
up seq anno feature ids: PRO_0000215844
up seq anno feature ids: VAR_021486
up seq anno feature ids: VSP_013028
up seq anno feature ids: VSP_013029
up seq anno feature ids: VSP_013031
up seq anno feature ids: VSP_013032
up seq anno feature ids: VSP_013033
up seq anno feature ids: VSP_013034

9606:SNCG
gene id: 9606:SNCG
uniprot id: F8W754
uniprot id: O76070
uniprot id: Q6FHG5
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: 1
up seq anno comments: 2
up seq anno comments: 3; approximate
up seq anno comments: 4
up seq anno comments: Basic and acidic residues
up seq anno comments: Gamma-synuclein
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by BARK1, CaMK2 and CK2
up seq anno feature ids: PRO_0000184038
up seq anno feature ids: VAR_007455

9606:AARS2
gene id: 9606:AARS2
uniprot id: Q5JTZ9
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: 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: Transit Peptide
up seq anno comments: Alanine--tRNA ligase, mitochondrial
up seq anno comments: Found in patient with leukoencephalopathy; unknown pathological significance.
up seq anno comments: In COXPD8.
up seq anno comments: In LKENP.
up seq anno comments: In LKENP; deleterious only under stress conditions.
up seq anno comments: Mitochondrion
up seq anno feature ids: PRO_0000250725
up seq anno feature ids: VAR_027609
up seq anno feature ids: VAR_027610
up seq anno feature ids: VAR_057357
up seq anno feature ids: VAR_065956
up seq anno feature ids: VAR_065957
up seq anno feature ids: VAR_071837
up seq anno feature ids: VAR_071838
up seq anno feature ids: VAR_071839
up seq anno feature ids: VAR_071840
up seq anno feature ids: VAR_071841
up seq anno feature ids: VAR_071842
up seq anno feature ids: VAR_071843

9606:CDH7
gene id: 9606:CDH7
uniprot id: F5H5X9
uniprot id: Q8IY78
uniprot id: Q9ULB5
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 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: 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-7
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_0000003769
up seq anno feature ids: PRO_0000003770
up seq anno feature ids: PRO_5003324764
up seq anno feature ids: PRO_5004308674
up seq anno feature ids: VAR_060247
up seq anno feature ids: VAR_061057

9606:ENAH
gene id: 9606:ENAH
uniprot id: A0A4D6J698
uniprot id: Q8N8S7
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: 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: Motif
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: 6
up seq anno comments: 7
up seq anno comments: 8
up seq anno comments: 9
up seq anno comments: Basic and acidic residues
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: KLKR
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: Protein enabled homolog
up seq anno comments: WH1
up seq anno feature ids: PRO_0000086971
up seq anno feature ids: VSP_010564
up seq anno feature ids: VSP_053772
up seq anno feature ids: VSP_053773

9606:BCL2L13
gene id: 9606:BCL2L13
uniprot id: A0A087WTL4
uniprot id: A0A087WX97
uniprot id: A8K5Y4
uniprot id: B2RB43
uniprot id: B7Z238
uniprot id: B7Z737
uniprot id: E9PDD6
uniprot id: Q86T62
uniprot id: Q9BXK5
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 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: 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: A
up seq anno comments: A; approximate
up seq anno comments: B
up seq anno comments: B; approximate
up seq anno comments: BCL
up seq anno comments: BH1
up seq anno comments: BH2
up seq anno comments: BH3
up seq anno comments: BH4
up seq anno comments: Basic and acidic residues
up seq anno comments: Bcl-2-like protein 13
up seq anno comments: Helical
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_0000143073
up seq anno feature ids: VAR_024377
up seq anno feature ids: VAR_024378
up seq anno feature ids: VAR_059141
up seq anno feature ids: VAR_059142
up seq anno feature ids: VSP_000526
up seq anno feature ids: VSP_000527
up seq anno feature ids: VSP_046931

9606:OR5P2
gene id: 9606:OR5P2
uniprot id: A0A126GVJ7
uniprot id: Q8WZ92
up 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 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_RECEP_F1_2
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 5P2
up seq anno feature ids: PRO_0000150610
up seq anno feature ids: VAR_053203
up seq anno feature ids: VAR_053204

9606:CFAP251
gene id: 9606:CFAP251
uniprot id: Q8TBY9
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 labels: Chain
up seq anno labels: Compositionally Biased 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: Cilia- and flagella-associated protein 251
up seq anno comments: In SPGF33.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Polar residues
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_0000296255
up seq anno feature ids: VAR_034623
up seq anno feature ids: VAR_034624
up seq anno feature ids: VAR_034625
up seq anno feature ids: VAR_060044
up seq anno feature ids: VAR_081181
up seq anno feature ids: VSP_027165
up seq anno feature ids: VSP_027166
up seq anno feature ids: VSP_027167
up seq anno feature ids: VSP_027168

9606:PRR29
gene id: 9606:PRR29
uniprot id: B4DG13
uniprot id: P0C7W0
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: DUF4587
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: Pro residues
up seq anno comments: Proline-rich protein 29
up seq anno feature ids: PRO_0000344468
up seq anno feature ids: VAR_069055
up seq anno feature ids: VSP_045344
up seq anno feature ids: VSP_045345
up seq anno feature ids: VSP_045346
up seq anno feature ids: VSP_046997

9606:MAGEF1
gene id: 9606:MAGEF1
uniprot id: Q9HAY2
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Loss of interaction with NSMCE1.
up seq anno comments: MAGE
up seq anno comments: Melanoma-associated antigen F1
up seq anno feature ids: PRO_0000156732
up seq anno feature ids: VAR_057651

9606:MGAT4C
gene id: 9606:MGAT4C
uniprot id: Q9UBM8
up 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 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:H2AC4
gene id: 9606:H2AC4
uniprot id: P04908
uniprot id: Q08AJ9
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 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: Sequence Conflict
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: 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
up seq anno comments: Histone H2A type 1-B/E
up seq anno comments: Histone_H2A_C
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; 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_0000055237

9606:TCF7
gene id: 9606:TCF7
uniprot id: B3KQ75
uniprot id: P36402
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 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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: HMG box
up seq anno comments: In isoform 1L and isoform 1S.
up seq anno comments: In isoform 1S, isoform 2S, isoform 3S, isoform 4S, isoform 5S, isoform 6S, isoform 7S and isoform 8S.
up seq anno comments: In isoform 2L and isoform 2S.
up seq anno comments: In isoform 3L and isoform 3S.
up seq anno comments: In isoform 5L and isoform 5S.
up seq anno comments: In isoform 6L and isoform 6S.
up seq anno comments: In isoform 7L and isoform 7S.
up seq anno comments: In isoform 8L and isoform 8S.
up seq anno comments: Nuclear localization signal
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Transcription factor 7
up seq anno feature ids: PRO_0000048612
up seq anno feature ids: VSP_002191
up seq anno feature ids: VSP_002192
up seq anno feature ids: VSP_006960
up seq anno feature ids: VSP_006961
up seq anno feature ids: VSP_012160
up seq anno feature ids: VSP_012161
up seq anno feature ids: VSP_012162
up seq anno feature ids: VSP_012163

9606:PARP6
gene id: 9606:PARP6
uniprot id: A0A024R5Z4
uniprot id: Q2NL67
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 labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: ADP-ribosyl aspartic acid
up seq anno comments: ADP-ribosylcysteine
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: PARP catalytic
up seq anno comments: Protein mono-ADP-ribosyltransferase PARP6
up seq anno feature ids: PRO_0000252430
up seq anno feature ids: VSP_020963
up seq anno feature ids: VSP_020964
up seq anno feature ids: VSP_020965
up seq anno feature ids: VSP_020966

9606:TMEM72
gene id: 9606:TMEM72
uniprot id: A0PK05
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
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: Polar residues
up seq anno comments: Transmembrane protein 72
up seq anno feature ids: PRO_0000319055
up seq anno feature ids: VSP_031343

9606:UBAC1
gene id: 9606:UBAC1
uniprot id: A0A140VK64
uniprot id: Q9BSL1
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: Secondary Structure
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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno comments: Basic and acidic residues
up seq anno comments: N-acetylmethionine
up seq anno comments: STI1
up seq anno comments: UBA
up seq anno comments: UBA 1
up seq anno comments: UBA 2
up seq anno comments: Ubiquitin-associated domain-containing protein 1
up seq anno comments: Ubiquitin-like
up seq anno feature ids: PRO_0000250449
up seq anno feature ids: VAR_027562

9606:AGR2
gene id: 9606:AGR2
uniprot id: O95994
uniprot id: Q4JM46
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: Secondary Structure
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: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Anterior gradient protein 2 homolog
up seq anno comments: Disrupted dimerization.
up seq anno comments: Homodimer stabilization; interchain
up seq anno comments: Loss of interaction with MUC2.
up seq anno comments: Monomer only, and reduced cell adhesion efficiency.
up seq anno feature ids: PRO_0000001037
up seq anno feature ids: PRO_5014309370

9606:UQCR10
gene id: 9606:UQCR10
uniprot id: Q9UDW1
up 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 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:KCNJ1
gene id: 9606:KCNJ1
uniprot id: A0A024R3K6
uniprot id: A8K432
uniprot id: P48048
up 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: 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: INTRAMEM
up seq anno labels: Modified Residue
up seq anno labels: Motif
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-sensitive inward rectifier potassium channel 1
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
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: IRK
up seq anno comments: IRK_C
up seq anno comments: In BARTS2.
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: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine; by SGK1
up seq anno comments: Pore-forming
up seq anno comments: Selectivity filter
up seq anno feature ids: PRO_0000154917
up seq anno feature ids: VAR_001548
up seq anno feature ids: VAR_001549
up seq anno feature ids: VAR_001550
up seq anno feature ids: VAR_001551
up seq anno feature ids: VAR_001552
up seq anno feature ids: VAR_001553
up seq anno feature ids: VAR_001554
up seq anno feature ids: VAR_001555
up seq anno feature ids: VAR_001556
up seq anno feature ids: VAR_019724
up seq anno feature ids: VAR_019725
up seq anno feature ids: VAR_019726
up seq anno feature ids: VAR_019727
up seq anno feature ids: VAR_036426
up seq anno feature ids: VAR_049668
up seq anno feature ids: VSP_002797
up seq anno feature ids: VSP_002798

9606:DNAAF2
gene id: 9606:DNAAF2
uniprot id: Q9NVR5
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: 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:VSTM2B
gene id: 9606:VSTM2B
uniprot id: A6NLU5
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: Disulfide Bond
up seq anno labels: Domain Extent
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: Ig-like V-type
up seq anno comments: Polar residues
up seq anno comments: V-set and transmembrane domain-containing protein 2B
up seq anno feature ids: PRO_0000319943

9606:KCNK18
gene id: 9606:KCNK18
uniprot id: Q7Z418
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 labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: INTRAMEM
up seq anno labels: Modified Residue
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: Cytoplasmic
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
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 18
up seq anno comments: Restores sensitivity to extracellular protons.
up seq anno comments: Strongly reduced current amplitude and localization to cell membrane. Strongly reduced current amplitude and localization to cell membrane; when associated with Q-70.
up seq anno comments: Strongly reduced current amplitude and localization to cell membrane. Strongly reduced current amplitude and localization to cell membrane; when associated with Q-96.
up seq anno feature ids: PRO_0000312500
up seq anno feature ids: VAR_037521
up seq anno feature ids: VAR_037522
up seq anno feature ids: VAR_037523
up seq anno feature ids: VAR_037524
up seq anno feature ids: VAR_037525
up seq anno feature ids: VAR_037526
up seq anno feature ids: VAR_064027

9606:ANHX
gene id: 9606:ANHX
uniprot id: E9PGG2
up seq anno parent labels: Experimental Information
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: Sequence Conflict
up seq anno comments: Anomalous homeobox protein
up seq anno comments: Homeobox
up seq anno feature ids: PRO_0000418211

9606:ZNF556
gene id: 9606:ZNF556
uniprot id: A0A0C4DGQ3
uniprot id: Q9HAH1
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Sequence 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 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 556
up seq anno feature ids: PRO_0000274876
up seq anno feature ids: VAR_030355
up seq anno feature ids: VAR_052863
up seq anno feature ids: VAR_052864
up seq anno feature ids: VAR_052865

9606:POLR1B
gene id: 9606:POLR1B
uniprot id: B7Z1W6
uniprot id: Q9H9Y6
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: Secondary Structure
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 labels: Zinc Finger
up seq anno comments: C4-type
up seq anno comments: DNA-directed RNA polymerase I subunit RPA2
up seq anno comments: In TCS4.
up seq anno comments: In TCS4; 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: Phosphoserine
up seq anno comments: RNA_pol_Rpa2_4
up seq anno comments: RNA_pol_Rpb2_1
up seq anno comments: RNA_pol_Rpb2_2
up seq anno comments: RNA_pol_Rpb2_3
up seq anno comments: RNA_pol_Rpb2_6
up seq anno comments: RNA_pol_Rpb2_7
up seq anno feature ids: PRO_0000048072
up seq anno feature ids: VAR_034476
up seq anno feature ids: VAR_071195
up seq anno feature ids: VAR_084557
up seq anno feature ids: VAR_084558
up seq anno feature ids: VAR_084559
up seq anno feature ids: VSP_017823
up seq anno feature ids: VSP_056749
up seq anno feature ids: VSP_056750
up seq anno feature ids: VSP_056751

9606:PTGFRN
gene id: 9606:PTGFRN
uniprot id: Q9P2B2
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 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: Cell attachment site
up seq anno comments: Cytoplasmic
up seq anno comments: Endoplasmic reticulum retention signal
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: Ig-like C2-type 6
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphothreonine
up seq anno comments: Prostaglandin F2 receptor negative regulator
up seq anno feature ids: PRO_0000014762
up seq anno feature ids: VAR_024496
up seq anno feature ids: VAR_059388

9606:MAGEB17
gene id: 9606:MAGEB17
uniprot id: A8MXT2
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 comments: MAGE
up seq anno comments: Melanoma-associated antigen B17
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000332218

9606:FBLN1
gene id: 9606:FBLN1
uniprot id: A0A8S0LWY1
uniprot id: P23142
uniprot id: Q8NBH6
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 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: Anaphylatoxin-like
up seq anno comments: Anaphylatoxin-like 1
up seq anno comments: Anaphylatoxin-like 2
up seq anno comments: Anaphylatoxin-like 3
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: 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: Fibulin-1
up seq anno comments: Found in a family with syndactyly, undescended testes, delayed motor milestones, intellectual disability and signs of brain atrophy; unknown pathological significance.
up seq anno comments: In isoform A.
up seq anno comments: In isoform B.
up seq anno comments: In isoform C.
up seq anno comments: N-linked (GlcNAc...) (complex) asparagine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000007563
up seq anno feature ids: PRO_5035908824
up seq anno feature ids: VAR_015650
up seq anno feature ids: VAR_055720
up seq anno feature ids: VAR_055721
up seq anno feature ids: VAR_072739
up seq anno feature ids: VSP_001383
up seq anno feature ids: VSP_001384
up seq anno feature ids: VSP_001385

9606:SPACA6
gene id: 9606:SPACA6
uniprot id: W5XKT8
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 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 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
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:PICALM
gene id: 9606:PICALM
uniprot id: A0A024R5L7
uniprot id: A0A024R5P1
uniprot id: Q13492
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 labels: Chain
up seq anno labels: Coiled-Coil
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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: ENTH
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 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: N-acetylserine
up seq anno comments: Phosphatidylinositol-binding clathrin assembly protein
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000187062
up seq anno feature ids: VAR_028191
up seq anno feature ids: VAR_028192
up seq anno feature ids: VAR_028193
up seq anno feature ids: VAR_028194
up seq anno feature ids: VAR_028195
up seq anno feature ids: VSP_004067
up seq anno feature ids: VSP_009607
up seq anno feature ids: VSP_009608
up seq anno feature ids: VSP_044567
up seq anno feature ids: VSP_044568

9606:FCF1
gene id: 9606:FCF1
uniprot id: G3V1S4
uniprot id: Q4FZ45
uniprot id: Q9Y324
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 comments: Basic and acidic residues
up seq anno comments: PINc
up seq anno comments: rRNA-processing protein FCF1 homolog
up seq anno feature ids: PRO_0000089920

9606:CAPNS1
gene id: 9606:CAPNS1
uniprot id: A0A0C4DGQ5
uniprot id: P04632
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: Secondary Structure
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: 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: Calpain small subunit 1
up seq anno comments: EF-hand
up seq anno comments: EF-hand 1; atypical
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: N-acetylmethionine
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000073713
up seq anno feature ids: VAR_021089

9606:SRRM3
gene id: 9606:SRRM3
uniprot id: A0A087WXA3
up seq anno parent labels: Region
up seq anno labels: Compositionally Biased Region
up seq anno labels: Domain Extent
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Polar residues
up seq anno comments: cwf21

9606:CHRM4
gene id: 9606:CHRM4
uniprot id: P08173
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 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: 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: Muscarinic acetylcholine receptor M4
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000069037

9606:TIRAP
gene id: 9606:TIRAP
uniprot id: A0A024R3M4
uniprot id: P58753
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: Secondary Structure
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: 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 NF-kappa-B activation.
up seq anno comments: Does not affect NF-kappa-B activation and TNF production.
up seq anno comments: Hypomorphic variant resulting in impaired NF-kappa-B activation and TNF production; loss of interaction with MYD88.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Polar residues
up seq anno comments: TIR
up seq anno comments: The functional impact of this variant is unclear; it has been reported both to affect interaction with TLR2, hence attenuating TLR2 signal transduction and to have no effect on NF-kappa-B activation and TNF production.
up seq anno comments: Toll/interleukin-1 receptor domain-containing adapter protein
up seq anno feature ids: PRO_0000072547
up seq anno feature ids: VAR_019143
up seq anno feature ids: VAR_019144
up seq anno feature ids: VAR_019145
up seq anno feature ids: VAR_019146
up seq anno feature ids: VAR_036691
up seq anno feature ids: VAR_061713
up seq anno feature ids: VSP_010765
up seq anno feature ids: VSP_017239

9606:NPY1R
gene id: 9606:NPY1R
uniprot id: P25929
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: Secondary Structure
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: Modified Residue
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: N-linked (GlcNAc...) asparagine
up seq anno comments: Neuropeptide Y receptor type 1
up seq anno comments: Phosphoserine
up seq anno comments: S-palmitoyl cysteine
up seq anno feature ids: PRO_0000069920
up seq anno feature ids: VAR_014681

9606:DUSP12
gene id: 9606:DUSP12
uniprot id: Q9UNI6
up 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: 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: Helix
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno comments: Dual specificity protein phosphatase 12
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphocysteine intermediate
up seq anno comments: Phosphoserine
up seq anno comments: Tyrosine-protein phosphatase
up seq anno feature ids: PRO_0000094818
up seq anno feature ids: VAR_033899

9606:AFF4
gene id: 9606:AFF4
uniprot id: Q9UHB7
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: Secondary Structure
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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Turn
up seq anno comments: AF4/FMR2 family member 4
up seq anno comments: Basic and acidic residues
up seq anno comments: Found in a clear cell renal carcinoma case; somatic mutation.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In CHOPS.
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: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000239393
up seq anno feature ids: VAR_053003
up seq anno feature ids: VAR_064693
up seq anno feature ids: VAR_073790
up seq anno feature ids: VAR_073791
up seq anno feature ids: VAR_073792
up seq anno feature ids: VSP_019218
up seq anno feature ids: VSP_019219
up seq anno feature ids: VSP_019220
up seq anno feature ids: VSP_019221

9606:GTF2E2
gene id: 9606:GTF2E2
uniprot id: P29084
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: Secondary Structure
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: 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: Basic residues
up seq anno comments: In TTD6; reduction in the levels of both TFIIE-alpha and TFIIE-beta subunits of the TFIIE complex in patient cells; reduced phosphorylation of TFIIE-alpha observed in patient cells.
up seq anno comments: N-acetylmethionine
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: TFIIE beta
up seq anno comments: Transcription initiation factor IIE subunit beta
up seq anno feature ids: PRO_0000211226
up seq anno feature ids: VAR_039003
up seq anno feature ids: VAR_052281
up seq anno feature ids: VAR_076893
up seq anno feature ids: VAR_076894

9606:CMC2
gene id: 9606:CMC2
uniprot id: Q9NRP2
up 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 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: COX assembly mitochondrial protein 2 homolog
up seq anno comments: Cx9C motif 1
up seq anno comments: Cx9C motif 2
up seq anno feature ids: PRO_0000192943
up seq anno feature ids: VAR_033816

9606:DDX19A
gene id: 9606:DDX19A
uniprot id: B4DS24
uniprot id: I3L0H8
uniprot id: Q68DY7
uniprot id: Q9NUU7
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: 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: Motif
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: ATP-dependent RNA helicase DDX19A
up seq anno comments: DEAD box
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: Helicase ATP-binding
up seq anno comments: Helicase C-terminal
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphothreonine
up seq anno comments: Q motif
up seq anno comments: Removed
up seq anno feature ids: PRO_0000055021
up seq anno feature ids: VSP_056954

9606:QPRT
gene id: 9606:QPRT
uniprot id: B4DDH4
uniprot id: Q15274
uniprot id: V9HWJ5
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: 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: Signal Peptide
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Forms dimers instead of hexamers.
up seq anno comments: Loss of activity.
up seq anno comments: Nicotinate-nucleotide pyrophosphorylase [carboxylating]
up seq anno comments: No effect on hexamer formation.
up seq anno comments: QRPTase_C
up seq anno comments: QRPTase_N
up seq anno comments: Reduced activity.
up seq anno feature ids: PRO_0000155954
up seq anno feature ids: PRO_5014314728
up seq anno feature ids: VAR_021915
up seq anno feature ids: VAR_050219

9606:ZHX3
gene id: 9606:ZHX3
uniprot id: Q9H4I2
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: Secondary Structure
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: 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: Basic and acidic residues
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 2
up seq anno comments: Homeobox 1
up seq anno comments: Homeobox 2
up seq anno comments: Homeobox 3
up seq anno comments: Homeobox 4
up seq anno comments: Homeobox 5
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Zinc fingers and homeoboxes protein 3
up seq anno feature ids: PRO_0000049395
up seq anno feature ids: VAR_049597
up seq anno feature ids: VSP_054307

9606:MT3
gene id: 9606:MT3
uniprot id: P25713
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 labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Metallothionein-3
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000197250

9606:IER5L
gene id: 9606:IER5L
uniprot id: Q5T953
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
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:HLX
gene id: 9606:HLX
uniprot id: Q14774
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: DNA Binding
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: H2.0-like homeobox protein
up seq anno comments: Homeobox
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000048978
up seq anno feature ids: VAR_037162
up seq anno feature ids: VAR_037163
up seq anno feature ids: VAR_049582

9606:MOB3B
gene id: 9606:MOB3B
uniprot id: Q86TA1
up seq anno parent labels: Experimental Information
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 labels: Sequence Conflict
up seq anno comments: MOB kinase activator 3B
up seq anno feature ids: PRO_0000193572

9606:AP3M2
gene id: 9606:AP3M2
uniprot id: A0A384NYL6
uniprot id: P53677
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Splice Variant
up seq anno comments: AP-3 complex subunit mu-2
up seq anno comments: In isoform 2.
up seq anno comments: MHD
up seq anno feature ids: PRO_0000193784
up seq anno feature ids: VSP_055790
up seq anno feature ids: VSP_055791

9606:SCIMP
gene id: 9606:SCIMP
uniprot id: Q6UWF3
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 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: Splice Variant
up seq anno labels: Transmembrane
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: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
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:GABRG3
gene id: 9606:GABRG3
uniprot id: Q99928
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 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: 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 patient with MRT52; unknown pathological significance.
up seq anno comments: Gamma-aminobutyric acid receptor subunit gamma-3
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_0000000481
up seq anno feature ids: VAR_033957
up seq anno feature ids: VSP_047543
up seq anno feature ids: VSP_047544

9606:AP2M1
gene id: 9606:AP2M1
uniprot id: B4DNB9
uniprot id: E9PFW3
uniprot id: Q96CW1
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: Secondary Structure
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: 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: AP-2 complex subunit mu
up seq anno comments: In MRD60; reduced clathrin-mediated endocytosis; no effect on clathrin-coated pit location; no effect on protein stability and membrane recruitment.
up seq anno comments: In isoform 2.
up seq anno comments: MHD
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine; by AAK1
up seq anno feature ids: PRO_0000193774
up seq anno feature ids: VAR_082954
up seq anno feature ids: VSP_034599

9606:AGXT
gene id: 9606:AGXT
uniprot id: P21549
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: Secondary Structure
up seq anno parent labels: 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: 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
up seq anno feature ids: VAR_060554
up seq anno feature ids: VAR_060555
up seq anno feature ids: VAR_060556
up seq anno feature ids: VAR_060557
up seq anno feature ids: VAR_060558
up seq anno feature ids: VAR_060559
up seq anno feature ids: VAR_060560
up seq anno feature ids: VAR_060561

9606:APOO
gene id: 9606:APOO
uniprot id: Q9BUR5
up 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 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: MICOS complex subunit MIC26
up seq anno comments: O-linked (Xyl...) (chondroitin sulfate) serine
up seq anno feature ids: PRO_0000254646
up seq anno feature ids: VSP_023333

9606:ARL1
gene id: 9606:ARL1
uniprot id: P40616
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: Secondary Structure
up seq anno parent labels: 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: Lipid Binding
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 1
up seq anno comments: Altered Golgi structure with an engorged lumen. Interacts with ARFIP2, GOLGA4, RGPD8, SCOC and UNC119.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of interaction with ARFIP1 and ARFIP2.
up seq anno comments: N-myristoyl glycine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000207450
up seq anno feature ids: VSP_056566

9606:C17orf58
gene id: 9606:C17orf58
uniprot id: Q2M2W7
up 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 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: 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: In isoform 2.
up seq anno comments: NTR
up seq anno comments: Pro residues
up seq anno comments: UPF0450 protein C17orf58
up seq anno feature ids: PRO_0000279445
up seq anno feature ids: VAR_030902
up seq anno feature ids: VSP_036597

9606:NPM2
gene id: 9606:NPM2
uniprot id: Q86SE8
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Motif
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: Bipartite nuclear localization signal
up seq anno comments: In isoform 2.
up seq anno comments: Nucleoplasmin-2
up seq anno feature ids: PRO_0000219487
up seq anno feature ids: VSP_054261

9606:SPINK13
gene id: 9606:SPINK13
uniprot id: Q1W4C9
up 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 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 comments: In isoform 2.
up seq anno comments: Kazal-like
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Serine protease inhibitor Kazal-type 13
up seq anno feature ids: PRO_0000344510
up seq anno feature ids: VSP_034842

9606:HOOK2
gene id: 9606:HOOK2
uniprot id: Q96ED9
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 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 Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Calponin-homology (CH)
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Protein Hook homolog 2
up seq anno feature ids: PRO_0000219194
up seq anno feature ids: VAR_017575
up seq anno feature ids: VAR_017576
up seq anno feature ids: VSP_009342

9606:TASOR2
gene id: 9606:TASOR2
uniprot id: Q5VWN6
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
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: Basic and acidic residues
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: Protein TASOR 2
up seq anno feature ids: PRO_0000299542
up seq anno feature ids: VAR_034838
up seq anno feature ids: VAR_034839
up seq anno feature ids: VAR_034840
up seq anno feature ids: VAR_050848
up seq anno feature ids: VAR_050849
up seq anno feature ids: VAR_050850
up seq anno feature ids: VAR_050851
up seq anno feature ids: VAR_050852
up seq anno feature ids: VAR_050853
up seq anno feature ids: VAR_061601
up seq anno feature ids: VAR_061602
up seq anno feature ids: VSP_027733

9606:WDR35
gene id: 9606:WDR35
uniprot id: Q9P2L0
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 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 comments: In CED2.
up seq anno comments: In SRTD7 and SRTD7/20; the SRTD7/20 patient also carries variant INTU 276-Q--L-942 del; chondrocyte cell lines from a patient show a reduction of cilia indicating a defect in ciliogenesis.
up seq anno comments: In SRTD7.
up seq anno comments: In SRTD7; chondrocyte cell lines from the patient show a reduction of cilia indicating a defect in ciliogenesis.
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 35
up seq anno feature ids: PRO_0000051384
up seq anno feature ids: VAR_053428
up seq anno feature ids: VAR_053429
up seq anno feature ids: VAR_062102
up seq anno feature ids: VAR_062103
up seq anno feature ids: VAR_064581
up seq anno feature ids: VAR_064582
up seq anno feature ids: VAR_065955
up seq anno feature ids: VAR_076784
up seq anno feature ids: VAR_080632
up seq anno feature ids: VAR_080633
up seq anno feature ids: VSP_009732

9606:WDR25
gene id: 9606:WDR25
uniprot id: A0A384NPW5
uniprot id: Q64LD2
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 labels: Chain
up seq anno labels: Compositionally Biased 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: In isoform 2.
up seq anno comments: Polar 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 comments: WD repeat-containing protein 25
up seq anno feature ids: PRO_0000256227
up seq anno feature ids: VAR_028888
up seq anno feature ids: VAR_028889
up seq anno feature ids: VAR_060042
up seq anno feature ids: VAR_060043
up seq anno feature ids: VSP_021331
up seq anno feature ids: VSP_021332

9606:SMCO4
gene id: 9606:SMCO4
uniprot id: A0A024R3A3
uniprot id: Q9NRQ5
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: Transmembrane
up seq anno comments: Helical
up seq anno comments: Single-pass membrane and coiled-coil domain-containing protein 4
up seq anno feature ids: PRO_0000087319

9606:MFNG
gene id: 9606:MFNG
uniprot id: O00587
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: 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: 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-1,3-N-acetylglucosaminyltransferase manic fringe
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_0000219182
up seq anno feature ids: VAR_024467
up seq anno feature ids: VSP_042857

9606:CT45A10
gene id: 9606:CT45A10
uniprot id: P0DMU8
uniprot id: P0DMU9
up seq anno parent labels: Experimental Information
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: 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: Polar residues
up seq anno feature ids: PRO_0000308950
up seq anno feature ids: PRO_0000433032

9606:TRMT1
gene id: 9606:TRMT1
uniprot id: A0A024R7I5
uniprot id: Q9NXH9
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 labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: C3H1-type
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Trm1 methyltransferase
up seq anno comments: tRNA (guanine(26)-N(2))-dimethyltransferase
up seq anno feature ids: PRO_0000147671
up seq anno feature ids: VSP_016720

9606:RHBDL2
gene id: 9606:RHBDL2
uniprot id: B7Z1Y9
uniprot id: Q9NX52
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: 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: 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: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Nucleophile
up seq anno comments: Reduces protease activity.
up seq anno comments: Rhomboid
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:HOXD8
gene id: 9606:HOXD8
uniprot id: A0A0A0MSX5
uniprot id: P13378
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 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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Homeobox
up seq anno comments: Homeobox protein Hox-D8
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_0000200216
up seq anno feature ids: VSP_042856
up seq anno feature ids: VSP_045862
up seq anno feature ids: VSP_045863

9606:PACC1
gene id: 9606:PACC1
uniprot id: Q9H813
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: Secondary Structure
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: 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: Extracellular
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: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Proton-activated chloride channel
up seq anno comments: Reduced I(-) permeability.
up seq anno feature ids: PRO_0000279471
up seq anno feature ids: VAR_035847
up seq anno feature ids: VSP_042887

9606:MIP
gene id: 9606:MIP
uniprot id: P30301
up 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 labels: Chain
up seq anno labels: INTRAMEM
up seq anno labels: Modified Residue
up seq anno labels: Motif
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: Deamidated asparagine; by deterioration
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In CTRCT15.
up seq anno comments: In CTRCT15; likely benign variant.
up seq anno comments: In CTRCT15; loss of plasma membrane expression.
up seq anno comments: In CTRCT15; non-progressive lamellar cataract; loss of activity.
up seq anno comments: In CTRCT15; progressive polymorphic and lamellar cataract; loss of activity.
up seq anno comments: In CTRCT15; reduces cell-to-cell adhesion, reduces cell-to-cell gap junction coupling, no loss of cell membrane localization, no loss of water channel activity.
up seq anno comments: In CTRCT15; unknown pathological significance.
up seq anno comments: In CTRCT15; unknown pathological significance; loss of plasma membrane expression.
up seq anno comments: Lens fiber major intrinsic protein
up seq anno comments: NPA 1
up seq anno comments: NPA 2
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000063912
up seq anno feature ids: VAR_011497
up seq anno feature ids: VAR_011498
up seq anno feature ids: VAR_071601
up seq anno feature ids: VAR_071602
up seq anno feature ids: VAR_071603
up seq anno feature ids: VAR_071604
up seq anno feature ids: VAR_075528
up seq anno feature ids: VAR_075529
up seq anno feature ids: VAR_084819
up seq anno feature ids: VAR_084820
up seq anno feature ids: VAR_084821

9606:KRTAP20-3
gene id: 9606:KRTAP20-3
uniprot id: Q3LI60
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno comments: Keratin-associated protein 20-3
up seq anno feature ids: PRO_0000307915

9606:EFNB2
gene id: 9606:EFNB2
uniprot id: P52799
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 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: 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: Complete loss of Nipah protein G binding.
up seq anno comments: Cytoplasmic
up seq anno comments: Ephrin RBD
up seq anno comments: Ephrin-B2
up seq anno comments: Extracellular
up seq anno comments: Helical
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: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000008392

9606:CGN
gene id: 9606:CGN
uniprot id: Q9P2M7
up 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 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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Cingulin
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: ZIM
up seq anno feature ids: PRO_0000089763
up seq anno feature ids: VAR_057809
up seq anno feature ids: VSP_037039
up seq anno feature ids: VSP_037040

9606:OTUD6A
gene id: 9606:OTUD6A
uniprot id: Q7L8S5
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 comments: Basic and acidic residues
up seq anno comments: Nucleophile
up seq anno comments: OTU
up seq anno comments: OTU domain-containing protein 6A
up seq anno feature ids: PRO_0000076277

9606:TEX9
gene id: 9606:TEX9
uniprot id: A0A0S2Z669
uniprot id: Q8N6V9
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 labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Non-terminal Residue
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: Testis-expressed protein 9
up seq anno feature ids: PRO_0000244481
up seq anno feature ids: VSP_055381

9606:NOTCH1
gene id: 9606:NOTCH1
uniprot id: P46531
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: Secondary Structure
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: 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: 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: (3S)-3-hydroxyasparagine; by HIF1AN
up seq anno comments: (3S)-3-hydroxyasparagine; by HIF1AN; partial
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: Basic and acidic residues
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; 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 14; calcium-binding
up seq anno comments: EGF-like 15; calcium-binding
up seq anno comments: EGF-like 16; calcium-binding
up seq anno comments: EGF-like 17; calcium-binding
up seq anno comments: EGF-like 18; calcium-binding
up seq anno comments: EGF-like 19; calcium-binding
up seq anno comments: EGF-like 2
up seq anno comments: EGF-like 20
up seq anno comments: EGF-like 21; calcium-binding
up seq anno comments: EGF-like 22
up seq anno comments: EGF-like 23; calcium-binding
up seq anno comments: EGF-like 24
up seq anno comments: EGF-like 25; calcium-binding
up seq anno comments: EGF-like 26
up seq anno comments: EGF-like 27
up seq anno comments: EGF-like 28
up seq anno comments: EGF-like 29
up seq anno comments: EGF-like 3
up seq anno comments: EGF-like 30
up seq anno comments: EGF-like 31; calcium-binding
up seq anno comments: EGF-like 32; calcium-binding
up seq anno comments: EGF-like 33
up seq anno comments: EGF-like 34
up seq anno comments: EGF-like 35
up seq anno comments: EGF-like 36
up seq anno comments: EGF-like 4
up seq anno comments: EGF-like 5; calcium-binding
up seq anno comments: EGF-like 6
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: Extracellular
up seq anno comments: Formation of an artifactual disulfide bond with PSEN1.
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 AOS5.
up seq anno comments: LNR 1
up seq anno comments: LNR 2

9606:ECI2
gene id: 9606:ECI2
uniprot id: A0A0C4DGA2
uniprot id: O75521
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: Secondary Structure
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: 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 labels: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
up seq anno comments: ACB
up seq anno comments: Enoyl-CoA delta isomerase 2
up seq anno comments: In isoform 2.
up seq anno comments: Microbody targeting signal
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_0000214027
up seq anno feature ids: VAR_058493
up seq anno feature ids: VAR_058494
up seq anno feature ids: VSP_037854

9606:PSPN
gene id: 9606:PSPN
uniprot id: O60542
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
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:SMYD2
gene id: 9606:SMYD2
uniprot id: Q9NRG4
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: Secondary Structure
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: 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 labels: Zinc Finger
up seq anno comments: Abolishes methyltransferase activity on p53/TP53.
up seq anno comments: Abolishes methyltransferase activity.
up seq anno comments: In isoform 2.
up seq anno comments: MYND-type
up seq anno comments: N-lysine methyltransferase SMYD2
up seq anno comments: No effect on methyltransferase activity on p53/TP53.
up seq anno comments: Phosphoserine
up seq anno comments: Reduces methyltransferase activity on p53/TP53.
up seq anno comments: SET
up seq anno comments: Slightly reduces methyltransferase activity on p53/TP53.
up seq anno comments: Strongly reduces methyltransferase activity on p53/TP53.
up seq anno feature ids: PRO_0000218309
up seq anno feature ids: VAR_023442
up seq anno feature ids: VAR_052991
up seq anno feature ids: VSP_056005

9606:RNF25
gene id: 9606:RNF25
uniprot id: Q96BH1
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 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: Sequence Conflict
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: E3 ubiquitin-protein ligase RNF25
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: RING-type
up seq anno comments: RWD
up seq anno comments: Reduced activation of NF-kappa-B.
up seq anno comments: Strongly reduced activation of NF-kappa-B.
up seq anno feature ids: PRO_0000056066

9606:CNOT10
gene id: 9606:CNOT10
uniprot id: Q9H9A5
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: CCR4-NOT transcription complex subunit 10
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: N-acetylalanine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno feature ids: PRO_0000314579
up seq anno feature ids: VAR_037957
up seq anno feature ids: VAR_053982
up seq anno feature ids: VSP_030311
up seq anno feature ids: VSP_030312
up seq anno feature ids: VSP_030313
up seq anno feature ids: VSP_030314
up seq anno feature ids: VSP_045557

9606:MDM1
gene id: 9606:MDM1
uniprot id: Q8TC05
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 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: 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: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Loss of microtubule binding, no loss of centrosomal localization, little effect on microtubule stability, loss of ability to block centriole reduplication and defective blocking of normal centriole duplication; when associated with 189-A--A-195; 232-A--A-238 and 306-A--A-312.
up seq anno comments: Loss of microtubule binding, no loss of centrosomal localization, little effect on microtubule stability, loss of ability to block centriole reduplication and defective blocking of normal centriole duplication; when associated with 9-A--A-15; 189-A--A-195 and 232-A--A-238.
up seq anno comments: Loss of microtubule binding, no loss of centrosomal localization, little effect on microtubule stability, loss of ability to block centriole reduplication and defective blocking of normal centriole duplication; when associated with 9-A--A-15; 189-A--A-195 and 306-A--A-312.
up seq anno comments: Loss of microtubule binding, no loss of centrosomal localization, little effect on microtubule stability, loss of ability to block centriole reduplication and defective blocking of normal centriole duplication; when associated with 9-A--A-15; 232-A--A-238 and 306-A--A-312.
up seq anno comments: Nuclear protein MDM1
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: ST]-E-Y-X(3)-F motif 1; required for efficient microtubule binding and stabilization
up seq anno comments: ST]-E-Y-X(3)-F motif 2; required for efficient microtubule binding and stabilization
up seq anno comments: ST]-E-Y-X(3)-F motif 3; required for efficient microtubule binding and stabilization
up seq anno comments: ST]-E-Y-X(3)-F motif 4; required for efficient microtubule binding and stabilization
up seq anno feature ids: PRO_0000299059
up seq anno feature ids: VAR_034782
up seq anno feature ids: VAR_034783
up seq anno feature ids: VAR_034784
up seq anno feature ids: VAR_034785
up seq anno feature ids: VSP_027544
up seq anno feature ids: VSP_027545
up seq anno feature ids: VSP_027546
up seq anno feature ids: VSP_027547
up seq anno feature ids: VSP_046400
up seq anno feature ids: VSP_046401

9606:GPX8
gene id: 9606:GPX8
uniprot id: B4DPY0
uniprot id: E7ETY7
uniprot id: J3KNB5
uniprot id: Q8TED1
up 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: Site
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: 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: N-acetylmethionine
up seq anno comments: Probable glutathione peroxidase 8
up seq anno feature ids: PRO_0000317756
up seq anno feature ids: VAR_060456

9606:CD33
gene id: 9606:CD33
uniprot id: P20138
uniprot id: Q546G0
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: Secondary Structure
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: 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: Abolishes binding to PTPN6 and PTPN11. Increases binding of red blood cells.
up seq anno comments: Complete loss of phosphorylation by LCK.
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: Ig-like
up seq anno comments: Ig-like C2-type
up seq anno comments: Ig-like V-type
up seq anno comments: In isoform 3.
up seq anno comments: In isoform CD33m.
up seq anno comments: More than 50% loss of phosphorylation by LCK.
up seq anno comments: Myeloid cell surface antigen CD33
up seq anno comments: N-linked (GalNAc...) asparagine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphotyrosine; by LCK
up seq anno comments: Polar residues
up seq anno comments: Reduces binding to PTPN6.
up seq anno comments: Significant loss of binding to peripheral blood granulocytes.
up seq anno feature ids: PRO_0000014878
up seq anno feature ids: PRO_5014309577
up seq anno feature ids: VAR_028260
up seq anno feature ids: VAR_028261
up seq anno feature ids: VAR_028262
up seq anno feature ids: VAR_028263
up seq anno feature ids: VAR_028264
up seq anno feature ids: VAR_049904
up seq anno feature ids: VAR_049905
up seq anno feature ids: VAR_049906
up seq anno feature ids: VAR_049907
up seq anno feature ids: VAR_049908
up seq anno feature ids: VAR_061319
up seq anno feature ids: VSP_045364
up seq anno feature ids: VSP_046172

9606:TMEM169
gene id: 9606:TMEM169
uniprot id: A0A024R430
uniprot id: Q96HH4
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: 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: Extracellular
up seq anno comments: Helical
up seq anno comments: Transmembrane protein 169
up seq anno feature ids: PRO_0000271039

9606:ZC2HC1B
gene id: 9606:ZC2HC1B
uniprot id: Q5TFG8
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Sequence Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2HC-type
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:FGFBP2
gene id: 9606:FGFBP2
uniprot id: Q9BYJ0
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Disulfide Bond
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Fibroblast growth factor-binding protein 2
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000245860
up seq anno feature ids: VAR_049065
up seq anno feature ids: VAR_059287
up seq anno feature ids: VAR_061171

9606:PLOD1
gene id: 9606:PLOD1
uniprot id: Q02809
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: 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: 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:ALDH9A1
gene id: 9606:ALDH9A1
uniprot id: P49189
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: Secondary Structure
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: 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: 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 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:OR10A7
gene id: 9606:OR10A7
uniprot id: A0A126GVR3
uniprot id: Q8NGE5
up 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 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_RECEP_F1_2
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 10A7
up seq anno feature ids: PRO_0000150690
up seq anno feature ids: VAR_053266

9606:CHRNA9
gene id: 9606:CHRNA9
uniprot id: Q9UGM1
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: Secondary Structure
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: 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: N-linked (GlcNAc...) asparagine
up seq anno comments: Neuronal acetylcholine receptor subunit alpha-9
up seq anno comments: The CHRNA9-CHRNA10 receptor is 250-fold more potently inhibited by the alpha-conotoxin RgIA.
up seq anno feature ids: PRO_0000000371
up seq anno feature ids: VAR_025425
up seq anno feature ids: VAR_031151
up seq anno feature ids: VAR_060996

9606:IL15RA
gene id: 9606:IL15RA
uniprot id: A0A0A0MS77
uniprot id: G8CVM3
uniprot id: Q13261
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: Secondary Structure
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: 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: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 3, isoform 4, isoform 6 and isoform 8.
up seq anno comments: In isoform 5 and isoform 6.
up seq anno comments: In isoform 7 and isoform 8.
up seq anno comments: In isoform 9.
up seq anno comments: Interleukin-15 receptor subunit alpha
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: Soluble interleukin-15 receptor subunit alpha
up seq anno comments: Sushi
up seq anno feature ids: PRO_0000011044
up seq anno feature ids: PRO_0000333855
up seq anno feature ids: PRO_5003509020
up seq anno feature ids: VAR_020967
up seq anno feature ids: VSP_012623
up seq anno feature ids: VSP_012624
up seq anno feature ids: VSP_012625
up seq anno feature ids: VSP_012626
up seq anno feature ids: VSP_055406

9606:BTG3
gene id: 9606:BTG3
uniprot id: Q14201
uniprot id: Q6IAU3
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 labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Anti_prolifrtn
up seq anno comments: In isoform 2.
up seq anno comments: Protein BTG3
up seq anno feature ids: PRO_0000143807
up seq anno feature ids: VSP_000578

9606:HEPH
gene id: 9606:HEPH
uniprot id: A0A0C4DG76
uniprot id: E7ES21
uniprot id: Q1HE23
uniprot id: Q9BQS7
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: 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: 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: Hephaestin
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: Phosphoserine
up seq anno comments: Plastocyanin-like
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_0000002915
up seq anno feature ids: PRO_5005693585
up seq anno feature ids: PRO_5014509642
up seq anno feature ids: PRO_5032831233
up seq anno feature ids: VAR_024379
up seq anno feature ids: VSP_011627
up seq anno feature ids: VSP_047331
up seq anno feature ids: VSP_047332

9606:CD58
gene id: 9606:CD58
uniprot id: P19256
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: Secondary Structure
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:RSPO3
gene id: 9606:RSPO3
uniprot id: Q9BXY4
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 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: 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: 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:SCNM1
gene id: 9606:SCNM1
uniprot id: Q9BWG6
up 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 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: 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: Bipartite nuclear localization signal
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: Matrin-type
up seq anno comments: Phosphoserine
up seq anno comments: Sodium channel modifier 1
up seq anno feature ids: PRO_0000259635
up seq anno feature ids: VSP_021489
up seq anno feature ids: VSP_053982
up seq anno feature ids: VSP_053983

9606:ITGA6
gene id: 9606:ITGA6
uniprot id: P23229
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: Secondary Structure
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: 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: 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 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: 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: In isoform 7.
up seq anno comments: In isoform 9.
up seq anno comments: In isoform Alpha-6X1A and isoform Alpha-6X1B.
up seq anno comments: In isoform Alpha-6X1A, isoform Alpha-6X2A, isoform Alpha-6X1X2A, isoform 7 and isoform 9.
up seq anno comments: In isoform Alpha-6X2A, isoform Alpha-6X2B and isoform 7.
up seq anno comments: Integrin alpha-6
up seq anno comments: Integrin alpha-6 heavy chain
up seq anno comments: Integrin alpha-6 light chain
up seq anno comments: Interchain (between heavy and light chains)
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Processed integrin alpha-6
up seq anno comments: S-palmitoyl cysteine; by DHHC3
up seq anno feature ids: PRO_0000016258
up seq anno feature ids: PRO_0000016259
up seq anno feature ids: PRO_0000016260
up seq anno feature ids: PRO_0000425742
up seq anno feature ids: VSP_002723
up seq anno feature ids: VSP_002724
up seq anno feature ids: VSP_002725
up seq anno feature ids: VSP_036406
up seq anno feature ids: VSP_036407

9606:ANKRA2
gene id: 9606:ANKRA2
uniprot id: A0A024RAN7
uniprot id: Q9H9E1
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: 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
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:PALMD
gene id: 9606:PALMD
uniprot id: A0A0S2Z5E7
uniprot id: Q9NP74
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 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: 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: Basic and acidic residues
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: N-acetylmethionine
up seq anno comments: Palmdelphin
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000262528
up seq anno feature ids: VAR_053805
up seq anno feature ids: VAR_053806
up seq anno feature ids: VAR_053807
up seq anno feature ids: VSP_021786
up seq anno feature ids: VSP_021787

9606:TARS1
gene id: 9606:TARS1
uniprot id: P26639
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: Secondary Structure
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: 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: Does not restore in vitro translation, does not replace endogenous yeast enzyme.
up seq anno comments: Does not restore in vitro translation, probably does not bind BN.
up seq anno comments: In TTD7.
up seq anno comments: In TTD7; loss of protein stability; loss of threonine-tRNA ligase activity.
up seq anno comments: In isoform 2.
up seq anno comments: N6-acetyllysine
up seq anno comments: Partially restores in vitro translation.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Replaces endogenous yeast enzyme.
up seq anno comments: TGS
up seq anno comments: Threonine--tRNA ligase 1, cytoplasmic
up seq anno feature ids: PRO_0000101119
up seq anno feature ids: VAR_034533
up seq anno feature ids: VAR_083226
up seq anno feature ids: VAR_083227
up seq anno feature ids: VAR_083228
up seq anno feature ids: VSP_045114

9606:MOGAT1
gene id: 9606:MOGAT1
uniprot id: Q96PD6
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 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: 2-acylglycerol O-acyltransferase 1
up seq anno comments: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000249058
up seq anno feature ids: VAR_027389
up seq anno feature ids: VAR_055695

9606:PNPO
gene id: 9606:PNPO
uniprot id: Q9NVS9
uniprot id: V9HW45
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: Secondary Structure
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: 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: Has no effect on the catalytic activity.
up seq anno comments: In PNPOD.
up seq anno comments: In PNPOD; strong activity decrease.
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: PNP_phzG_C
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Putative_PNPOx
up seq anno comments: Pyridoxine-5'-phosphate oxidase
up seq anno feature ids: PRO_0000167783
up seq anno feature ids: VAR_029358
up seq anno feature ids: VAR_029359
up seq anno feature ids: VAR_029360
up seq anno feature ids: VAR_078229
up seq anno feature ids: VAR_078643
up seq anno feature ids: VSP_056410
up seq anno feature ids: VSP_056411
up seq anno feature ids: VSP_058769
up seq anno feature ids: VSP_058770

9606:FAM149A
gene id: 9606:FAM149A
uniprot id: A5PLN7
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 labels: Chain
up seq anno labels: Compositionally Biased 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: 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:DUXA
gene id: 9606:DUXA
uniprot id: A6NLW8
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 comments: Double homeobox protein A
up seq anno comments: Homeobox 1
up seq anno comments: Homeobox 2
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000311327

9606:TRMT61B
gene id: 9606:TRMT61B
uniprot id: Q9BVS5
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: Secondary Structure
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: Helix
up seq anno labels: Mutagenesis Site
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: 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: tRNA (adenine(58)-N(1))-methyltransferase, mitochondrial
up seq anno feature ids: PRO_0000311814

9606:MICALL2
gene id: 9606:MICALL2
uniprot id: Q6UWK3
uniprot id: Q8IY33
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 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: 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: Calponin-homology (CH)
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: LIM zinc-binding
up seq anno comments: MICAL-like protein 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: bMERB
up seq anno feature ids: PRO_0000075850
up seq anno feature ids: PRO_5004281478
up seq anno feature ids: VAR_034071
up seq anno feature ids: VAR_034072
up seq anno feature ids: VAR_050159
up seq anno feature ids: VAR_061356
up seq anno feature ids: VSP_009854
up seq anno feature ids: VSP_009855
up seq anno feature ids: VSP_009856
up seq anno feature ids: VSP_009857
up seq anno feature ids: VSP_009858

9606:MEA1
gene id: 9606:MEA1
uniprot id: Q16626
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
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:CZIB
gene id: 9606:CZIB
uniprot id: Q9NWV4
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: Secondary Structure
up seq anno parent labels: 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: Strand
up seq anno labels: Turn
up seq anno comments: CXXC motif containing zinc binding protein
up seq anno comments: Disrupts protein folding and solubility; when associated with A-33; A-36 and A-67.
up seq anno comments: Disrupts protein folding and solubility; when associated with A-33; A-36 and A-70.
up seq anno comments: Disrupts protein folding and solubility; when associated with A-33; A-67 and A-70.
up seq anno comments: Disrupts protein folding and solubility; when associated with A-36; A-67 and A-70.
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000264151

9606:PTK2B
gene id: 9606:PTK2B
uniprot id: Q14289
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: Secondary Structure
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: 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: Abolishes autophosphorylation. Abolishes interaction with SRC.
up seq anno comments: Abolishes kinase activity.
up seq anno comments: FERM
up seq anno comments: In isoform 2.
up seq anno comments: Loss of interaction with NPHP1.
up seq anno comments: Loss of phosphorylation site. Strongly reduced interaction with GRB2.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphotyrosine
up seq anno comments: Phosphotyrosine; by SRC
up seq anno comments: Phosphotyrosine; by SRC, FYN and LCK
up seq anno comments: Phosphotyrosine; by autocatalysis
up seq anno comments: Pro residues
up seq anno comments: Protein kinase
up seq anno comments: Protein-tyrosine kinase 2-beta
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000088081
up seq anno feature ids: VAR_020284
up seq anno feature ids: VAR_041687
up seq anno feature ids: VAR_041688
up seq anno feature ids: VAR_041689
up seq anno feature ids: VAR_041690
up seq anno feature ids: VSP_004981

9606:MRAP
gene id: 9606:MRAP
uniprot id: Q8TCY5
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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 1.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Melanocortin-2 receptor accessory protein
up seq anno feature ids: PRO_0000096570
up seq anno feature ids: VSP_003862
up seq anno feature ids: VSP_003863
up seq anno feature ids: VSP_003864
up seq anno feature ids: VSP_021020

9606:HNRNPLL
gene id: 9606:HNRNPLL
uniprot id: A0A0S2Z6K1
uniprot id: A8K894
uniprot id: Q8WVV9
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: Secondary Structure
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: Non-terminal Residue
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: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Heterogeneous nuclear ribonucleoprotein L-like
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: Phosphothreonine
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_0000081609
up seq anno feature ids: VSP_013285
up seq anno feature ids: VSP_013286
up seq anno feature ids: VSP_013287
up seq anno feature ids: VSP_013288
up seq anno feature ids: VSP_013289
up seq anno feature ids: VSP_054470

9606:FOXA3
gene id: 9606:FOXA3
uniprot id: A0A024R0R3
uniprot id: P55318
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno comments: Fork-head
up seq anno comments: Hepatocyte nuclear factor 3-gamma
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000091800
up seq anno feature ids: VAR_008859

9606:CFAP53
gene id: 9606:CFAP53
uniprot id: Q96M91
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Sequence Variant
up seq anno comments: Cilia- and flagella-associated protein 53
up seq anno comments: In HTX6; unknown pathological significance.
up seq anno feature ids: PRO_0000089407
up seq anno feature ids: VAR_050746
up seq anno feature ids: VAR_050747
up seq anno feature ids: VAR_077590

9606:S1PR3
gene id: 9606:S1PR3
uniprot id: Q99500
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: Secondary Structure
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: Modified Residue
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: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Sphingosine 1-phosphate receptor 3
up seq anno feature ids: PRO_0000069421
up seq anno feature ids: VAR_033465

9606:NUDT8
gene id: 9606:NUDT8
uniprot id: Q8WV74
up 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: 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: Motif
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: Mitochondrial coenzyme A diphosphatase NUDT8
up seq anno comments: N6-succinyllysine
up seq anno comments: Nudix box
up seq anno comments: Nudix hydrolase
up seq anno feature ids: PRO_0000019948
up seq anno feature ids: VSP_014282
up seq anno feature ids: VSP_014283

9606:FAM83E
gene id: 9606:FAM83E
uniprot id: Q2M2I3
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Polar residues
up seq anno comments: Protein FAM83E
up seq anno feature ids: PRO_0000314929
up seq anno feature ids: VAR_038130
up seq anno feature ids: VAR_038131
up seq anno feature ids: VAR_038132

9606:CNEP1R1
gene id: 9606:CNEP1R1
uniprot id: B8YCP3
uniprot id: Q8N9A8
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 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:GK2
gene id: 9606:GK2
uniprot id: A0A140VKG0
uniprot id: Q14410
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: 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 labels: Transmembrane
up seq anno comments: FGGY_C
up seq anno comments: FGGY_N
up seq anno comments: Glycerol kinase 2
up seq anno comments: Helical
up seq anno feature ids: PRO_0000059536

9606:FAM170A
gene id: 9606:FAM170A
uniprot id: A1A519
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
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; degenerate
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: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Protein FAM170A
up seq anno feature ids: PRO_0000326110
up seq anno feature ids: VAR_047312
up seq anno feature ids: VSP_032556
up seq anno feature ids: VSP_032557
up seq anno feature ids: VSP_035475
up seq anno feature ids: VSP_035476
up seq anno feature ids: VSP_035477

9606:NXNL2
gene id: 9606:NXNL2
uniprot id: Q5VZ03
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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: Nucleoredoxin-like protein 2
up seq anno comments: Thioredoxin
up seq anno feature ids: PRO_0000229735
up seq anno feature ids: VAR_025755
up seq anno feature ids: VSP_039844

9606:SCGB1C1
gene id: 9606:SCGB1C1
uniprot id: Q8TD33
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno labels: Signal Peptide
up seq anno comments: Secretoglobin family 1C member 1
up seq anno feature ids: PRO_0000223332
up seq anno feature ids: VAR_063102

9606:IFIT2
gene id: 9606:IFIT2
uniprot id: P09913
uniprot id: Q05DN2
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: 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 labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Turn
up seq anno comments: Abolishes RNA-binding.
up seq anno comments: Interferon-induced protein with tetratricopeptide repeats 2
up seq anno comments: N-acetylserine
up seq anno comments: Removed
up seq anno comments: Significantly impairs RNA-binding; when associated with Glu-255.
up seq anno comments: Significantly impairs RNA-binding; when associated with Glu-259.
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: TPR 8
up seq anno comments: TPR 9
up seq anno feature ids: PRO_0000106347
up seq anno feature ids: VAR_014490
up seq anno feature ids: VAR_052615
up seq anno feature ids: VAR_052616

9606:CMTM8
gene id: 9606:CMTM8
uniprot id: Q8IZV2
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 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:PRKCD
gene id: 9606:PRKCD
uniprot id: A0A024R328
uniprot id: B4DFV1
uniprot id: Q05655
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: Secondary Structure
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: 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 labels: Zinc Finger
up seq anno comments: AGC-kinase C-terminal
up seq anno comments: C2
up seq anno comments: In isoform 2.
up seq anno comments: Loss of phosphorylation.
up seq anno comments: No effect on kinase activity.
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: Phosphoserine; by autocatalysis
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by autocatalysis
up seq anno comments: Phosphotyrosine
up seq anno comments: Phosphotyrosine; by SRC
up seq anno comments: Protein kinase
up seq anno comments: Protein kinase C delta type
up seq anno comments: Protein kinase C delta type catalytic subunit
up seq anno comments: Protein kinase C delta type regulatory subunit
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000055694
up seq anno feature ids: PRO_0000421667
up seq anno feature ids: PRO_0000421668
up seq anno feature ids: VAR_006175
up seq anno feature ids: VAR_006176
up seq anno feature ids: VAR_020610
up seq anno feature ids: VAR_035347
up seq anno feature ids: VAR_035348
up seq anno feature ids: VAR_046009
up seq anno feature ids: VSP_043899

9606:KRT23
gene id: 9606:KRT23
uniprot id: A0A024R1X9
uniprot id: Q8TC04
uniprot id: Q9C075
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: IF rod
up seq anno comments: In isoform 2.
up seq anno comments: Keratin, type I cytoskeletal 23
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000063677
up seq anno feature ids: VAR_031608
up seq anno feature ids: VAR_049785
up seq anno feature ids: VSP_055662

9606:ZIC5
gene id: 9606:ZIC5
uniprot id: Q96T25
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
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: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Zinc finger protein ZIC 5
up seq anno feature ids: PRO_0000047255
up seq anno feature ids: VAR_079268
up seq anno feature ids: VAR_079269

9606:PFDN5
gene id: 9606:PFDN5
uniprot id: Q99471
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: In isoform 3.
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Prefoldin subunit 5
up seq anno comments: Removed
up seq anno feature ids: PRO_0000153661
up seq anno feature ids: VSP_043103
up seq anno feature ids: VSP_043104

9606:NEFH
gene id: 9606:NEFH
uniprot id: P12036
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 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: 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: 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: 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: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: IF rod
up seq anno comments: In ALS.
up seq anno comments: In isoform 2.
up seq anno comments: Neurofilament heavy polypeptide
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000063800
up seq anno feature ids: VAR_023063
up seq anno feature ids: VAR_026163
up seq anno feature ids: VAR_054787
up seq anno feature ids: VAR_056025
up seq anno feature ids: VSP_036706

9606:LEP
gene id: 9606:LEP
uniprot id: A4D0Y8
uniprot id: P41159
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: Secondary Structure
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 comments: In LEPD.
up seq anno comments: In LEPD; no effect on secretion; does not bind or activate LEPR.
up seq anno comments: Leptin
up seq anno feature ids: PRO_0000017685
up seq anno feature ids: PRO_5014296862
up seq anno feature ids: VAR_004196
up seq anno feature ids: VAR_004197
up seq anno feature ids: VAR_008094
up seq anno feature ids: VAR_011955
up seq anno feature ids: VAR_075144

9606:TPTE
gene id: 9606:TPTE
uniprot id: P56180
up 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 labels: Active 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 labels: Transmembrane
up seq anno comments: C2 tensin-type
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: Phosphatase tensin-type
up seq anno comments: Putative tyrosine-protein phosphatase TPTE
up seq anno feature ids: PRO_0000215907
up seq anno feature ids: VAR_025400
up seq anno feature ids: VAR_036516
up seq anno feature ids: VAR_057347
up seq anno feature ids: VAR_057348
up seq anno feature ids: VAR_061895
up seq anno feature ids: VAR_065097
up seq anno feature ids: VSP_017319
up seq anno feature ids: VSP_017320
up seq anno feature ids: VSP_017321

9606:ZFAND6
gene id: 9606:ZFAND6
uniprot id: Q6FIF0
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: 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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: A20-type
up seq anno comments: AN1-type
up seq anno comments: AN1-type zinc finger protein 6
up seq anno comments: In isoform 2.
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000245235
up seq anno feature ids: VSP_019652

9606:KALRN
gene id: 9606:KALRN
uniprot id: A0A804HKJ7
uniprot id: A0A804HKT9
uniprot id: C9IZQ6
uniprot id: O60229
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: Secondary Structure
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: 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: 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: CRAL-TRIO
up seq anno comments: DH
up seq anno comments: DH 1
up seq anno comments: DH 2
up seq anno comments: Fibronectin type-III
up seq anno comments: Ig-like C2-type
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: In isoform 4 and isoform 6.
up seq anno comments: In isoform 5 and isoform 6.
up seq anno comments: In isoform 5.
up seq anno comments: Kalirin
up seq anno comments: Loss of autophosphorylation.
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 comments: Protein kinase
up seq anno comments: Proton acceptor
up seq anno comments: SH3
up seq anno comments: SH3 1
up seq anno comments: SH3 2
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 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 feature ids: PRO_0000080955
up seq anno feature ids: VAR_020192
up seq anno feature ids: VAR_035625
up seq anno feature ids: VAR_035976
up seq anno feature ids: VAR_041898
up seq anno feature ids: VAR_057190
up seq anno feature ids: VSP_028903
up seq anno feature ids: VSP_028904
up seq anno feature ids: VSP_028909
up seq anno feature ids: VSP_028910
up seq anno feature ids: VSP_028911
up seq anno feature ids: VSP_028912
up seq anno feature ids: VSP_028913
up seq anno feature ids: VSP_028914
up seq anno feature ids: VSP_028915

9606:ATP8A1
gene id: 9606:ATP8A1
uniprot id: Q9Y2Q0
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: Secondary Structure
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: 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: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: 4-aspartylphosphate intermediate
up seq anno comments: Cytoplasmic
up seq anno comments: Exoplasmic loop
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: Phospholipid-transporting ATPase IA
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000046360
up seq anno feature ids: VAR_022003
up seq anno feature ids: VSP_000431
up seq anno feature ids: VSP_040977

9606:EPB41L4B
gene id: 9606:EPB41L4B
uniprot id: Q59GC2
uniprot id: Q9H329
uniprot id: Q9NSG9
uniprot id: Q9NX84
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Band 4.1-like protein 4B
up seq anno comments: Basic and acidic residues
up seq anno comments: FERM
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000219404
up seq anno feature ids: VAR_048356
up seq anno feature ids: VSP_007202
up seq anno feature ids: VSP_007203

9606:S100A7A
gene id: 9606:S100A7A
uniprot id: Q86SG5
up 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 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: Strand
up seq anno comments: EF-hand 1
up seq anno comments: EF-hand 2
up seq anno comments: Protein S100-A7A
up seq anno feature ids: PRO_0000143991
up seq anno feature ids: VAR_048468
up seq anno feature ids: VAR_061048

9606:FXN
gene id: 9606:FXN
uniprot id: A0A0S2Z3G4
uniprot id: Q16595
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: Secondary Structure
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 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 cleavage to yield frataxin intermediate form and allows accumulation of frataxin(56-210) and frataxin(78-210).
up seq anno comments: Abolishes cleavage to yield frataxin mature form and allows accumulation of frataxin(56-210) and frataxin(78-210).
up seq anno comments: Abolishes cleavage to yield frataxin mature form and allows the accumulation of frataxin(56-210).
up seq anno comments: Does not affect interaction with the core iron-sulfur cluster assembly complex. Does not affect mitochondrial localization. Does not affect proteolytic processing.
up seq anno comments: Drasticly reduces interaction with the core iron-sulfur cluster assembly complex. Does not affect mitochondrial localization. Does not affect proteolytic processing.
up seq anno comments: Extramitochondrial frataxin
up seq anno comments: Frataxin intermediate form
up seq anno comments: Frataxin mature form
up seq anno comments: Frataxin(56-210)
up seq anno comments: Frataxin(78-210)
up seq anno comments: In FRDA.
up seq anno comments: In FRDA; mild form; decreases affinity for the SDAU complex by 40-fold; decreases the level of covalent incorporation of sulfur into both NFS1 and ISCU.
up seq anno comments: In FRDA; reduces interaction with LYRM4; the interaction is rescued by nickel; a murine cellular FRDA model, deleted for endogenous frataxin and expressing human mutant frataxin cDNA shows defects in mitochondrial structure, mitochondrial iron deposits, decreased enzymatic activity of some mitochondrial and cytoplasmic iron-sulfur cluster-containing enzymes, increased RNA-binding activity of ACO1 and increased sensitivity to oxidative stress; decreases the level of covalent incorporation of sulfur into both NFS1 and ISCU.
up seq anno comments: In FRDA; reduces interaction with LYRM4; the interaction is rescued by nickel; drastically decreases affinity for the SDAU complex by > 75-fold; decreases the level of covalent incorporation of sulfur into both NFS1 and ISCU.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of interaction with the core iron-sulfur cluster assembly complex. Does not affect mitochondrial localization. Does not affect proteolytic processing.
up seq anno comments: Mitochondrion
up seq anno comments: No effect on processing of wild-type FXN.
up seq anno comments: Reduces interaction with the core iron-sulfur cluster assembly complex. Does not affect mitochondrial localization. Does not affect proteolytic processing.
up seq anno comments: Significantly reduces interaction with the core iron-sulfur cluster assembly complex. Does not affect mitochondrial localization. Does not affect proteolytic processing.
up seq anno feature ids: PRO_0000010129
up seq anno feature ids: PRO_0000010130
up seq anno feature ids: PRO_0000289331
up seq anno feature ids: PRO_0000399388
up seq anno feature ids: PRO_0000456947
up seq anno feature ids: VAR_002428
up seq anno feature ids: VAR_002429
up seq anno feature ids: VAR_008140
up seq anno feature ids: VAR_016065
up seq anno feature ids: VAR_016066
up seq anno feature ids: VAR_049100
up seq anno feature ids: VAR_087120
up seq anno feature ids: VAR_087121
up seq anno feature ids: VAR_087122
up seq anno feature ids: VSP_001576
up seq anno feature ids: VSP_047282

9606:SH2D3A
gene id: 9606:SH2D3A
uniprot id: A8K2M8
uniprot id: Q9BRG2
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 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 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.
up seq anno comments: Loss of phosphorylation.
up seq anno comments: Phosphoserine
up seq anno comments: SH2
up seq anno comments: SH2 domain-containing protein 3A
up seq anno comments: Weak phosphorylation.
up seq anno feature ids: PRO_0000233132
up seq anno feature ids: VAR_026054
up seq anno feature ids: VAR_035989
up seq anno feature ids: VAR_051349
up seq anno feature ids: VSP_056268
up seq anno feature ids: VSP_056269
up seq anno feature ids: VSP_056270

9606:OR51I1
gene id: 9606:OR51I1
uniprot id: A0A126GWE7
uniprot id: Q9H343
up 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 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_RECEP_F1_2
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 51I1
up seq anno feature ids: PRO_0000150757
up seq anno feature ids: VAR_024142
up seq anno feature ids: VAR_034320
up seq anno feature ids: VAR_053328

9606:MYL3
gene id: 9606:MYL3
uniprot id: A0A024R2Q5
uniprot id: P08590
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
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: In CMH8.
up seq anno comments: In CMH8; autosomal recessive.
up seq anno comments: In CMH8; with mid-left ventricular chamber thickening.
up seq anno comments: Myosin light chain 3
up seq anno comments: N,N,N-trimethylalanine
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_0000198696
up seq anno feature ids: VAR_004599
up seq anno feature ids: VAR_004600
up seq anno feature ids: VAR_019842
up seq anno feature ids: VAR_019843
up seq anno feature ids: VAR_073726

9606:IFNA16
gene id: 9606:IFNA16
uniprot id: A0A7R8C397
uniprot id: P05015
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Signal Peptide
up seq anno comments: Interferon alpha-16
up seq anno feature ids: PRO_0000016368
up seq anno feature ids: PRO_5031033906

9606:RBAK
gene id: 9606:RBAK
uniprot id: Q9NYW8
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 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: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type 1
up seq anno comments: C2H2-type 10; degenerate
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: 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: RB-associated KRAB zinc finger protein
up seq anno feature ids: PRO_0000316976
up seq anno feature ids: VAR_038438
up seq anno feature ids: VSP_044805
up seq anno feature ids: VSP_044806

9606:TMA16
gene id: 9606:TMA16
uniprot id: Q96EY4
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 labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: ADP-ribosylserine
up seq anno comments: Translation machinery-associated protein 16
up seq anno feature ids: PRO_0000321559
up seq anno feature ids: VAR_039349
up seq anno feature ids: VAR_039350
up seq anno feature ids: VAR_054013

9606:GDPD1
gene id: 9606:GDPD1
uniprot id: Q8N9F7
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: 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 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: In isoform 3.
up seq anno comments: Lysophospholipase D GDPD1
up seq anno feature ids: PRO_0000251931
up seq anno feature ids: VSP_020806
up seq anno feature ids: VSP_020807
up seq anno feature ids: VSP_020808

9606:SLC22A10
gene id: 9606:SLC22A10
uniprot id: Q63ZE4
up 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 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: 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: Solute carrier family 22 member 10
up seq anno feature ids: PRO_0000233716
up seq anno feature ids: VSP_056645
up seq anno feature ids: VSP_056646
up seq anno feature ids: VSP_056647

9606:SS18
gene id: 9606:SS18
uniprot id: A0A024RC40
uniprot id: B4DLD3
uniprot id: B4DR34
uniprot id: B4E2J6
uniprot id: Q15532
uniprot id: Q4VAX0
up 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 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: Repeat
up seq anno labels: Splice Variant
up seq anno comments: 1
up seq anno comments: 2
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Protein SSXT
up seq anno comments: Removed
up seq anno comments: SH2-binding
up seq anno comments: SH3-binding
up seq anno comments: SSXT
up seq anno feature ids: PRO_0000181823
up seq anno feature ids: VSP_006258

9606:PLP2
gene id: 9606:PLP2
uniprot id: A0A024QYW3
uniprot id: Q04941
up 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 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: Helical
up seq anno comments: In isoform 2.
up seq anno comments: MARVEL
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Proteolipid protein 2
up seq anno feature ids: PRO_0000156819
up seq anno feature ids: VAR_011924
up seq anno feature ids: VSP_041602

9606:CCDC91
gene id: 9606:CCDC91
uniprot id: A0A024RAW6
uniprot id: Q05D28
uniprot id: Q7Z6B0
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 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: 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 91
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_0000087478
up seq anno feature ids: VAR_021531
up seq anno feature ids: VAR_021532
up seq anno feature ids: VSP_013243
up seq anno feature ids: VSP_013244

9606:CSH1
gene id: 9606:CSH1
uniprot id: A8K6C2
uniprot id: P0DML2
uniprot id: P0DML3
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: Secondary Structure
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: 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: Chorionic somatomammotropin hormone 1
up seq anno comments: Chorionic somatomammotropin hormone 2
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In monomeric form
up seq anno comments: Interchain (with C-208); in dimeric form
up seq anno comments: Interchain (with C-215); in dimeric form
up seq anno feature ids: PRO_0000032958
up seq anno feature ids: PRO_0000429797
up seq anno feature ids: PRO_5014297542
up seq anno feature ids: VAR_007167
up seq anno feature ids: VSP_055244
up seq anno feature ids: VSP_055245

9606:CYB5B
gene id: 9606:CYB5B
uniprot id: O43169
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: 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: Propeptide
up seq anno labels: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytochrome b5 heme-binding
up seq anno comments: Cytochrome b5 type B
up seq anno comments: Helical
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-methyllysine
up seq anno comments: Phosphoserine
up seq anno comments: axial binding residue
up seq anno feature ids: PRO_0000006471
up seq anno feature ids: PRO_0000006472

9606:PNLIP
gene id: 9606:PNLIP
uniprot id: P16233
up 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: 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: 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: Charge relay system
up seq anno comments: In PNLIPD; loss of function in lipid catabolic process; the mutant is not secreted.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Nucleophile
up seq anno comments: PLAT
up seq anno comments: Pancreatic triacylglycerol lipase
up seq anno feature ids: PRO_0000017785
up seq anno feature ids: VAR_078977

9606:LY6K
gene id: 9606:LY6K
uniprot id: Q17RY6
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 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: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: GPI-anchor amidated glycine
up seq anno comments: In isoform 2.
up seq anno comments: Lymphocyte antigen 6K
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Removed in mature form
up seq anno comments: UPAR/Ly6
up seq anno feature ids: PRO_0000337084
up seq anno feature ids: PRO_0000337085
up seq anno feature ids: VSP_045602
up seq anno feature ids: VSP_045603

9606:GABRA1
gene id: 9606:GABRA1
uniprot id: A8K177
uniprot id: P14867
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: Secondary Structure
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: 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: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Completely abolishes potentiation and activation by the agonist alphaxalone.
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Gamma-aminobutyric acid receptor subunit alpha-1
up seq anno comments: Helical
up seq anno comments: In DEE19.
up seq anno comments: In EIG13; the mutant protein is partially retained in the endoplasmic reticulum and has decreased expression at the plasma membrane; causes decreased current amplitude in response to GABA compared to wild-type and alters receptor gating kinetics including faster desensitization.
up seq anno comments: In EJM5.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Neur_chan_LBD
up seq anno comments: Neur_chan_memb
up seq anno comments: Reduced potentiation and activation by the agonist alphaxalone.
up seq anno feature ids: PRO_0000000428
up seq anno feature ids: PRO_5022260971
up seq anno feature ids: VAR_013642
up seq anno feature ids: VAR_071809
up seq anno feature ids: VAR_071810
up seq anno feature ids: VAR_071811
up seq anno feature ids: VAR_071812
up seq anno feature ids: VAR_078222

9606:VN1R2
gene id: 9606:VN1R2
uniprot id: Q8NFZ6
up 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 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:SPATA45
gene id: 9606:SPATA45
uniprot id: Q537H7
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno comments: Spermatogenesis-associated protein 45
up seq anno feature ids: PRO_0000285785
up seq anno feature ids: VAR_060195

9606:C6orf47
gene id: 9606:C6orf47
uniprot id: A0A1U9X7F2
uniprot id: O95873
uniprot id: Q9UMP7
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Helical
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Uncharacterized protein C6orf47
up seq anno feature ids: PRO_0000089504
up seq anno feature ids: VAR_022911
up seq anno feature ids: VAR_056797

9606:TBRG1
gene id: 9606:TBRG1
uniprot id: A0A024R3K3
uniprot id: Q3YBR2
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: Secondary Structure
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: 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: FYR C-terminal
up seq anno comments: FYR N-terminal
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-acetylserine
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno comments: Transforming growth factor beta regulator 1
up seq anno feature ids: PRO_0000274218
up seq anno feature ids: VSP_022644
up seq anno feature ids: VSP_022645

9606:RBFOX2
gene id: 9606:RBFOX2
uniprot id: O43251
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: Secondary Structure
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: Sequence Conflict
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: In isoform 2, isoform 3, isoform 4, isoform 5, isoform 9 and isoform 10.
up seq anno comments: In isoform 2, isoform 8 and isoform 9.
up seq anno comments: In isoform 3, 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 6 and isoform 8.
up seq anno comments: In isoform 7.
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Omega-N-methylarginine; alternate
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: RNA binding protein fox-1 homolog 2
up seq anno comments: RRM
up seq anno feature ids: PRO_0000081766
up seq anno feature ids: VSP_007180
up seq anno feature ids: VSP_007181
up seq anno feature ids: VSP_007182
up seq anno feature ids: VSP_007183
up seq anno feature ids: VSP_030889
up seq anno feature ids: VSP_030890
up seq anno feature ids: VSP_030891

9606:PRELID2
gene id: 9606:PRELID2
uniprot id: Q8N945
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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: In isoform 3.
up seq anno comments: PRELI domain-containing protein 2
up seq anno comments: PRELI/MSF1
up seq anno feature ids: PRO_0000307773
up seq anno feature ids: VAR_053910
up seq anno feature ids: VSP_028824
up seq anno feature ids: VSP_028825
up seq anno feature ids: VSP_044841

9606:NAGLU
gene id: 9606:NAGLU
uniprot id: A0A140VJE4
uniprot id: P54802
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: Secondary Structure
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 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: Alpha-N-acetylglucosaminidase 77 kDa form
up seq anno comments: Alpha-N-acetylglucosaminidase 82 kDa form
up seq anno comments: In CMT2V.
up seq anno comments: In MPS3B.
up seq anno comments: In MPS3B; accounts for approximately 20% of MPS3B alleles in a Dutch patient group.
up seq anno comments: In MPS3B; accounts for approximately 6% of mutations in Australasian patients with MPS3B.
up seq anno comments: In MPS3B; accounts for approximately 6% of the mutant alleles in Australasian patients with MPS3B.
up seq anno comments: In MPS3B; associated with a partially degraded polypeptide in a 16-hour chase experiment suggesting that L-48 NAGLU affects the processing and stability of the gene; some L-48 NAGLU is being correctly sorted to the lysosomal compartment.
up seq anno comments: In MPS3B; decreases the enzyme activity markedly.
up seq anno comments: In MPS3B; does not yield active enzyme.
up seq anno comments: In MPS3B; no enzyme activity.
up seq anno comments: In MPS3B; no enzyme activity; synthesizes a polypeptide with a molecular size similar to that of the wild-type.
up seq anno comments: In MPS3B; produces 12.7% residual enzyme activity.
up seq anno comments: In MPS3B; unknown pathological significance.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: NAGLU
up seq anno comments: NAGLU_C
up seq anno comments: NAGLU_N
up seq anno feature ids: PRO_0000020728
up seq anno feature ids: PRO_0000020729
up seq anno feature ids: PRO_5007491720
up seq anno feature ids: VAR_005007
up seq anno feature ids: VAR_005008
up seq anno feature ids: VAR_005009
up seq anno feature ids: VAR_005010
up seq anno feature ids: VAR_005011
up seq anno feature ids: VAR_005012
up seq anno feature ids: VAR_005013
up seq anno feature ids: VAR_005014
up seq anno feature ids: VAR_005015
up seq anno feature ids: VAR_008979
up seq anno feature ids: VAR_008980
up seq anno feature ids: VAR_008981
up seq anno feature ids: VAR_008982
up seq anno feature ids: VAR_008983
up seq anno feature ids: VAR_008984
up seq anno feature ids: VAR_008985
up seq anno feature ids: VAR_008986
up seq anno feature ids: VAR_008987
up seq anno feature ids: VAR_008988
up seq anno feature ids: VAR_008989
up seq anno feature ids: VAR_008990
up seq anno feature ids: VAR_008991
up seq anno feature ids: VAR_025489
up seq anno feature ids: VAR_025490
up seq anno feature ids: VAR_025491
up seq anno feature ids: VAR_025492
up seq anno feature ids: VAR_025493
up seq anno feature ids: VAR_025494
up seq anno feature ids: VAR_054699
up seq anno feature ids: VAR_054700
up seq anno feature ids: VAR_054701
up seq anno feature ids: VAR_054702
up seq anno feature ids: VAR_054703
up seq anno feature ids: VAR_054704
up seq anno feature ids: VAR_054705
up seq anno feature ids: VAR_054706
up seq anno feature ids: VAR_054707
up seq anno feature ids: VAR_054708
up seq anno feature ids: VAR_054709
up seq anno feature ids: VAR_054710
up seq anno feature ids: VAR_054711

9606:ZBTB11
gene id: 9606:ZBTB11
uniprot id: O95625
uniprot id: Q59H97
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 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: 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
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: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In MRT69; impaired localization to the nucleolus.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Zinc finger and BTB domain-containing protein 11
up seq anno feature ids: PRO_0000047727
up seq anno feature ids: VAR_021894
up seq anno feature ids: VAR_047465
up seq anno feature ids: VAR_080760
up seq anno feature ids: VAR_082098

9606:ACSF2
gene id: 9606:ACSF2
uniprot id: B4DTB9
uniprot id: E9PF16
uniprot id: Q96CM8
up 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: 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 labels: Splice Variant
up seq anno labels: Transit Peptide
up seq anno comments: AMP-binding
up seq anno comments: AMP-binding_C
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:TULP2
gene id: 9606:TULP2
uniprot id: O00295
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
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:TNKS2
gene id: 9606:TNKS2
uniprot id: Q9H2K2
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: 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: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: (3S)-3-hydroxyasparagine; by HIF1AN; partial
up seq anno comments: (3S)-3-hydroxyhistidine; by HIF1AN; partial
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 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: Enhanced hydroxylation by HIF1AN.
up seq anno comments: Loss of activity.
up seq anno comments: PARP catalytic
up seq anno comments: Polar residues
up seq anno comments: Poly [ADP-ribose] polymerase tankyrase-2
up seq anno comments: SAM
up seq anno feature ids: PRO_0000211334

9606:RUBCN
gene id: 9606:RUBCN
uniprot id: Q8N4U6
uniprot id: Q92622
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: Secondary Structure
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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Disrupts interaction with Rab7, translocation to cytoplasm; when associated with G-912, G-915 and L-920.
up seq anno comments: Disrupts interaction with Rab7, translocation to cytoplasm; when associated with G-912, L-920 and G-923.
up seq anno comments: Disrupts interaction with Rab7, translocation to cytoplasm; when associated with G-912,G-915 and G-923.
up seq anno comments: Disrupts interaction with Rab7, translocation to cytoplasm; when associated with G-915, L-920 and G-923.
up seq anno comments: Disrupts interaction with YWHAB.
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: RUN
up seq anno comments: Run domain Beclin-1-interacting and cysteine-rich domain-containing protein
up seq anno feature ids: PRO_0000050736
up seq anno feature ids: VSP_039160
up seq anno feature ids: VSP_039161
up seq anno feature ids: VSP_039471
up seq anno feature ids: VSP_039472
up seq anno feature ids: VSP_039473

9606:ARL5C
gene id: 9606:ARL5C
uniprot id: A6NH57
up seq anno parent labels: Modification
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 labels: Initiator Methionine
up seq anno labels: Lipid Binding
up seq anno comments: N-myristoyl glycine
up seq anno comments: Putative ADP-ribosylation factor-like protein 5C
up seq anno comments: Removed
up seq anno feature ids: PRO_0000332303

9606:C6
gene id: 9606:C6
uniprot id: P13671
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: Secondary Structure
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: C-linked (Man) tryptophan
up seq anno comments: C-linked (Man) tryptophan; partial
up seq anno comments: Complement component C6
up seq anno comments: EGF-like
up seq anno comments: In allotype C6 A.
up seq anno comments: Kazal-like 1
up seq anno comments: Kazal-like 2
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: O-linked (Fuc...) threonine
up seq anno comments: Sushi 1
up seq anno comments: Sushi 2
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 feature ids: PRO_0000023579
up seq anno feature ids: VAR_006056
up seq anno feature ids: VAR_027647
up seq anno feature ids: VAR_027648

9606:XAGE3
gene id: 9606:XAGE3
uniprot id: Q8WTP9
up seq anno parent labels: Experimental Information
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: Sequence Conflict
up seq anno comments: Basic and acidic residues
up seq anno comments: Polar residues
up seq anno comments: X antigen family member 3
up seq anno feature ids: PRO_0000148351

9606:LIF
gene id: 9606:LIF
uniprot id: P15018
up 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 labels: Chain
up seq anno labels: Disulfide Bond
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: Turn
up seq anno comments: In isoform 2.
up seq anno comments: Leukemia inhibitory factor
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000017715
up seq anno feature ids: VSP_045551
up seq anno feature ids: VSP_045552

9606:SLC35E4
gene id: 9606:SLC35E4
uniprot id: Q6ICL7
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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: EamA
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Solute carrier family 35 member E4
up seq anno feature ids: PRO_0000298927
up seq anno feature ids: VSP_027480
up seq anno feature ids: VSP_027481

9606:PABPC1L2B
gene id: 9606:PABPC1L2B
uniprot id: Q5JQF8
up seq anno parent labels: Experimental Information
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: Sequence Conflict
up seq anno comments: Polyadenylate-binding protein 1-like 2
up seq anno comments: RRM 1
up seq anno comments: RRM 2
up seq anno feature ids: PRO_0000304509

9606:H2AC7
gene id: 9606:H2AC7
uniprot id: B2R5B6
uniprot id: P20671
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 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: Strand
up seq anno comments: Blocks the inhibition of transcription by RPS6KA5/MSK1.
up seq anno comments: Citrulline; alternate
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
up seq anno comments: Histone H2A type 1-D
up seq anno comments: Histone_H2A_C
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:ITPKA
gene id: 9606:ITPKA
uniprot id: P23677
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: 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: Sequence Conflict
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Decreases to 12% of kinase activity.
up seq anno comments: Decreases to 44% of kinase activity.
up seq anno comments: Decreases to 80% of kinase activity.
up seq anno comments: Inositol-trisphosphate 3-kinase A
up seq anno comments: Loss of kinase activity.
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000066865

9606:MRPL35
gene id: 9606:MRPL35
uniprot id: Q9NZE8
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Secondary Structure
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: 39S ribosomal protein L35, mitochondrial
up seq anno comments: In isoform 2.
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:TAC4
gene id: 9606:TAC4
uniprot id: Q86UU9
up 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 labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Peptide
up seq anno labels: Propeptide
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Endokinin-A
up seq anno comments: Endokinin-A/B
up seq anno comments: Endokinin-C
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: Leucine amide
up seq anno comments: Methionine amide
up seq anno feature ids: PRO_0000320011
up seq anno feature ids: PRO_0000320012
up seq anno feature ids: PRO_0000320013
up seq anno feature ids: PRO_5000063346
up seq anno feature ids: PRO_5000063347
up seq anno feature ids: VSP_052676
up seq anno feature ids: VSP_052677
up seq anno feature ids: VSP_052680
up seq anno feature ids: VSP_052681

9606:CSNK1G3
gene id: 9606:CSNK1G3
uniprot id: Q9Y6M4
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: Secondary Structure
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: 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: Casein kinase I isoform gamma-3
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 and isoform 6.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: N-acetylmethionine
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_0000192846
up seq anno feature ids: VSP_004749
up seq anno feature ids: VSP_010256
up seq anno feature ids: VSP_047053
up seq anno feature ids: VSP_047054
up seq anno feature ids: VSP_047055

9606:GH1
gene id: 9606:GH1
uniprot id: B1A4G6
uniprot id: B1A4G7
uniprot id: P01241
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: Secondary Structure
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: 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: Deamidated asparagine; by deterioration
up seq anno comments: Deamidated glutamine; by deterioration
up seq anno comments: Found in patients with isolated growth hormone deficiency.
up seq anno comments: In IGHD1B.
up seq anno comments: In IGHD1B; reduced ability to activate the JAK/STAT pathway.
up seq anno comments: In IGHD1B; reduced secretion.
up seq anno comments: In IGHD1B; suppresses secretion.
up seq anno comments: In IGHD2.
up seq anno comments: In KWKS; loss of activity.
up seq anno comments: In KWKS; no effect on GHR signaling pathway; does not affect interaction with GHR; results in a stronger interaction with GHBP; does not affect subcellular location.
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 short stature; idiopathic autosomal.
up seq anno comments: In short stature; idiopathic autosomal; affects binding affinity of GH for GHR and the potency of GH to activate the JAK2/STAT5 signaling pathway.
up seq anno comments: Phosphoserine
up seq anno comments: Somatotropin
up seq anno feature ids: PRO_0000032988
up seq anno feature ids: PRO_5014298185
up seq anno feature ids: PRO_5014298186
up seq anno feature ids: VAR_011917
up seq anno feature ids: VAR_011918
up seq anno feature ids: VAR_011919
up seq anno feature ids: VAR_015801
up seq anno feature ids: VAR_015802
up seq anno feature ids: VAR_015803
up seq anno feature ids: VAR_015804
up seq anno feature ids: VAR_015805
up seq anno feature ids: VAR_015806
up seq anno feature ids: VAR_015807
up seq anno feature ids: VAR_015808
up seq anno feature ids: VAR_015809
up seq anno feature ids: VAR_015810
up seq anno feature ids: VAR_015811
up seq anno feature ids: VAR_015812
up seq anno feature ids: VAR_015813
up seq anno feature ids: VAR_015814
up seq anno feature ids: VAR_015815
up seq anno feature ids: VAR_032702
up seq anno feature ids: VAR_032703
up seq anno feature ids: VSP_006200
up seq anno feature ids: VSP_006201
up seq anno feature ids: VSP_006202
up seq anno feature ids: VSP_045642

9606:CEL
gene id: 9606:CEL
uniprot id: B4DSX9
uniprot id: O75612
uniprot id: Q86SR3
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: Site
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: Non-terminal Residue
up seq anno labels: Signal Peptide
up seq anno comments: Acyl-ester intermediate
up seq anno comments: COesterase
up seq anno comments: Charge relay system
up seq anno comments: Mucin-like
up seq anno comments: Pro residues
up seq anno feature ids: PRO_5007323512

9606:PRKACG
gene id: 9606:PRKACG
uniprot id: P22612
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: 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: 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: AGC-kinase C-terminal
up seq anno comments: In BDPLT19; patient platelets show impaired activation.
up seq anno comments: N-myristoyl glycine
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: Removed
up seq anno comments: cAMP-dependent protein kinase catalytic subunit gamma
up seq anno feature ids: PRO_0000086064
up seq anno feature ids: VAR_033902
up seq anno feature ids: VAR_040595
up seq anno feature ids: VAR_072672

9606:PHOSPHO2-KLHL23
gene id: 9606:PHOSPHO2-KLHL23
uniprot id: Q8NBE8
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: Repeat
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 6
up seq anno comments: Kelch-like protein 23
up seq anno feature ids: PRO_0000242157

9606:FGB
gene id: 9606:FGB
uniprot id: P02675
uniprot id: V9HVY1
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: Secondary Structure
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: Modified Residue
up seq anno labels: Peptide
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: Basic and acidic residues
up seq anno comments: Fibrinogen C-terminal
up seq anno comments: Fibrinogen beta chain
up seq anno comments: Fibrinopeptide B
up seq anno comments: In Baltimore-2.
up seq anno comments: In CAFBN.
up seq anno comments: In CAFBN; abolishes fibrinogen secretion.
up seq anno comments: In CAFBN; fibrinogen Longmont.
up seq anno comments: In CAFBN; homozygous; heterozygous; no effect on fibrinogen complex assembly; impaired fibrinogen complex secretion.
up seq anno comments: In CAFBN; hypofibrinogenemia; heterozygous; decreased fibrinogen complex assembly; no effect on fibrinogen complex secretion.
up seq anno comments: In Christchurch-2, Seattle-1 and Ijmuiden.
up seq anno comments: In DYSFIBRIN; fibrinogen Naples and Milano-2; associated with defective thrombin binding and thrombophilia.
up seq anno comments: In Ise.
up seq anno comments: In New York-1.
up seq anno comments: In Nijmegen.
up seq anno comments: In Pontoise-2.
up seq anno comments: Interchain (with C-161 in gamma chain)
up seq anno comments: Interchain (with C-184 in alpha chain)
up seq anno comments: Interchain (with C-45 in gamma chain)
up seq anno comments: Interchain (with C-55 in alpha chain)
up seq anno comments: Interchain (with C-68 in alpha chain)
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Pyrrolidone carboxylic acid
up seq anno feature ids: PRO_0000009070
up seq anno feature ids: PRO_0000009071
up seq anno feature ids: PRO_5004776896
up seq anno feature ids: VAR_002402
up seq anno feature ids: VAR_002403
up seq anno feature ids: VAR_002404
up seq anno feature ids: VAR_002405
up seq anno feature ids: VAR_002406
up seq anno feature ids: VAR_002407
up seq anno feature ids: VAR_002408
up seq anno feature ids: VAR_013091
up seq anno feature ids: VAR_013092
up seq anno feature ids: VAR_013093
up seq anno feature ids: VAR_014169
up seq anno feature ids: VAR_016908
up seq anno feature ids: VAR_016909
up seq anno feature ids: VAR_016910
up seq anno feature ids: VAR_072620
up seq anno feature ids: VAR_072724
up seq anno feature ids: VAR_072725

9606:DNMT3L
gene id: 9606:DNMT3L
uniprot id: Q9UJW3
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 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: 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: DNA (cytosine-5)-methyltransferase 3-like
up seq anno comments: GATA-type; atypical
up seq anno comments: In isoform 2.
up seq anno comments: Loss of binding to DNMT3A.
up seq anno comments: PHD-type; atypical
up seq anno feature ids: PRO_0000088047
up seq anno feature ids: VAR_051962
up seq anno feature ids: VSP_041295

9606:ADD3
gene id: 9606:ADD3
uniprot id: Q53FL4
uniprot id: Q59EK1
uniprot id: Q5VU08
uniprot id: Q9UEY8
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 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: 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: Aldolase_II
up seq anno comments: Basic residues
up seq anno comments: Gamma-adducin
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In CPSQ3; decreased actin capping activity; increased fibroblast proliferation and migration; decreased colocalization with alpha subunit ADD1.
up seq anno comments: In isoform 1.
up seq anno comments: N-acetylserine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno feature ids: PRO_0000218536
up seq anno feature ids: VAR_076996
up seq anno feature ids: VSP_000188

9606:RNF157
gene id: 9606:RNF157
uniprot id: Q96PX1
up 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 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: 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: D-box 1
up seq anno comments: D-box 2
up seq anno comments: E3 ubiquitin ligase RNF157
up seq anno comments: In isoform 2.
up seq anno comments: N-myristoyl glycine
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_0000261614
up seq anno feature ids: VAR_029458
up seq anno feature ids: VAR_029459
up seq anno feature ids: VAR_061817
up seq anno feature ids: VSP_021735

9606:FKBP7
gene id: 9606:FKBP7
uniprot id: B4DRE2
uniprot id: Q9Y680
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: 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: Motif
up seq anno labels: Sequence Conflict
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: EF-hand 1
up seq anno comments: EF-hand 2
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: PPIase FKBP-type
up seq anno comments: Peptidyl-prolyl cis-trans isomerase FKBP7
up seq anno comments: Retention in the endoplasmic reticulum
up seq anno comments: peptidylprolyl isomerase
up seq anno feature ids: PRO_0000025513
up seq anno feature ids: PRO_5035651471
up seq anno feature ids: VSP_041018
up seq anno feature ids: VSP_059387
up seq anno feature ids: VSP_059388

9606:ZNF773
gene id: 9606:ZNF773
uniprot id: M0QYZ8
uniprot id: Q6PK81
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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: C2H2-type 9
up seq anno comments: In isoform 2.
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 773
up seq anno feature ids: PRO_0000285303
up seq anno feature ids: VSP_024870

9606:THEM5
gene id: 9606:THEM5
uniprot id: Q8N1Q8
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: Secondary Structure
up seq anno parent labels: Site
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 Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes enzyme activity.
up seq anno comments: Acyl-coenzyme A thioesterase THEM5
up seq anno comments: Proton donor/acceptor
up seq anno comments: Reduces enzyme activity. Abolishes enzyme activity; when associated with A-160.
up seq anno comments: Strongly reduces enzyme activity. Abolishes enzyme activity; when associated with A-183.
up seq anno feature ids: PRO_0000284519
up seq anno feature ids: VAR_031764
up seq anno feature ids: VAR_031765
up seq anno feature ids: VAR_031766

9606:ATG16L1
gene id: 9606:ATG16L1
uniprot id: A0A024R494
uniprot id: A0A024R4B6
uniprot id: Q17RG0
uniprot id: Q53SV2
uniprot id: Q676U5
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: Secondary Structure
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: 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: ATG16
up seq anno comments: Abolished non-canonical autophagy without affecting canonical autophagy.
up seq anno comments: Abolished non-canonical autophagy without affecting canonical autophagy. Impaired conjugation of phosphatidylserine (PS) to LC3 proteins.
up seq anno comments: Abolishes interaction with ATG5.
up seq anno comments: Abolishes phosphorylation. Impairs interaction with ATG12-ATG5 complex.
up seq anno comments: Autophagy-related protein 16-1
up seq anno comments: Caspase cleavage
up seq anno comments: Impairs interaction with PPP1CA; when associated with A-540.
up seq anno comments: Impairs interaction with PPP1CA; when associated with A-542.
up seq anno comments: Impairs interaction with WIPI2.
up seq anno comments: In FII mutant; abolished binding to membranes and lipidation to ATG8 family proteins.
up seq anno comments: In IBD10; has no effect on the stability of the protein under normal conditions; enhances the cleavage and the degradation mediated by activated CASP3; results in reduced autophagy and defective clearance of intestinal pathogens; impairs interaction with TMEM59; slows TMEM59 intracellular trafficking; increases production of type I IFNs.
up seq anno comments: In VRV mutant; abolished binding to membranes and lipidation to ATG8 family proteins.
up seq anno comments: In isoform 2 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 4.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CK2
up seq anno comments: Prevents cleavage by activated CASP3.
up seq anno comments: Reduces interaction with ATG5.
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_0000050848
up seq anno feature ids: VAR_021834
up seq anno feature ids: VAR_053386
up seq anno feature ids: VSP_013386
up seq anno feature ids: VSP_013387
up seq anno feature ids: VSP_013388
up seq anno feature ids: VSP_013389
up seq anno feature ids: VSP_013390

9606:TMEM183A
gene id: 9606:TMEM183A
uniprot id: Q8IXX5
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 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 isoform 2.
up seq anno comments: Transmembrane protein 183A
up seq anno feature ids: PRO_0000089251
up seq anno feature ids: VAR_023205
up seq anno feature ids: VAR_023206
up seq anno feature ids: VSP_015084

9606:SIM1
gene id: 9606:SIM1
uniprot id: P81133
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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 comments: Nuclear localization signal
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: Single-minded C-terminal
up seq anno comments: Single-minded homolog 1
up seq anno comments: bHLH
up seq anno feature ids: PRO_0000127439
up seq anno feature ids: VAR_034496
up seq anno feature ids: VAR_034497
up seq anno feature ids: VAR_049549

9606:NBN
gene id: 9606:NBN
uniprot id: A0A0C4DG07
uniprot id: O60934
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: Secondary Structure
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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Turn
up seq anno comments: Abrogates ATM-dependent phosphorylation.
up seq anno comments: Abrogates ATM-dependent phosphorylation. No loss of interaction with KPNA2.
up seq anno comments: BRCT
up seq anno comments: Basic and acidic residues
up seq anno comments: Blocks the association with KPNA2, and reduces nuclear foci formation in response to ionizing radiation.
up seq anno comments: Decreases ATM binding.
up seq anno comments: Disrupts nuclear foci formation and block phosphorylation in response to ionizing radiation.
up seq anno comments: EEXXXDDL motif
up seq anno comments: FHA
up seq anno comments: Found in a renal cell carcinoma sample; somatic mutation.
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In BC.
up seq anno comments: In some childhood acute lymphoblastic leukemia patients; uncertain pathological significance; rare variant.
up seq anno comments: In some childhood acute lymphoblastic leukemia patients; uncertain pathological significance; rare variant; associated with aplastic anemia at homozygosity.
up seq anno comments: Nbs1_C
up seq anno comments: Nibrin
up seq anno comments: No loss of interaction with KPNA2.
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by ATM
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000231043
up seq anno feature ids: VAR_025792
up seq anno feature ids: VAR_025793
up seq anno feature ids: VAR_025794
up seq anno feature ids: VAR_025795
up seq anno feature ids: VAR_025796
up seq anno feature ids: VAR_025797
up seq anno feature ids: VAR_025798
up seq anno feature ids: VAR_025799
up seq anno feature ids: VAR_025800
up seq anno feature ids: VAR_025801
up seq anno feature ids: VAR_025802
up seq anno feature ids: VAR_025803
up seq anno feature ids: VAR_051226
up seq anno feature ids: VAR_051227
up seq anno feature ids: VAR_064738

9606:BAAT
gene id: 9606:BAAT
uniprot id: Q14032
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: Site
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 Variant
up seq anno comments: Abolishes N-acyltransferase activity.
up seq anno comments: Bile acid-CoA:amino acid N-acyltransferase
up seq anno comments: Charge relay system
up seq anno comments: In BACD1.
up seq anno comments: In BACD1; contrary to wild-type, undetectable expression in hepatocytes.
up seq anno comments: In BACD1; unknown pathological significance.
up seq anno comments: In BACD1; unknown pathological significance; contrary to wild-type, undetectable expression in hepatocytes.
up seq anno comments: Lowers N-acyltransferase activity; enhanced thioesterase activity presumably dependent on the formation of a bile acid-enzyme covalent intermediate via a thioester bond.
up seq anno comments: Phosphoserine
up seq anno comments: Retains N-acyltransferase activity.
up seq anno comments: Translocation to peroxisomes.
up seq anno feature ids: PRO_0000202159
up seq anno feature ids: VAR_023737
up seq anno feature ids: VAR_052303
up seq anno feature ids: VAR_085492
up seq anno feature ids: VAR_085493
up seq anno feature ids: VAR_085494
up seq anno feature ids: VAR_085495

9606:MYC
gene id: 9606:MYC
uniprot id: P01106
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: Secondary Structure
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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: 9aaTAD
up seq anno comments: Abolished ubiquitination and degradation by the DCX(TRPC4AP) complex.
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: Impairs interaction with FBXW7 and subsequent degradation by the proteasome. Impaired inhibition of Ras-induced senescence. Abolishes phosphorylation by DYRK2, and subsequent phosphorylation by GSK3B at Thr-58.
up seq anno comments: Impairs interaction with FBXW7 and subsequent degradation by the proteasome. Normal inhibition of Ras-induced senescence.
up seq anno comments: In a Burkitt lymphoma sample.
up seq anno comments: In isoform 2.
up seq anno comments: Myc proto-oncogene protein
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-acetyllysine; by PCAF
up seq anno comments: N6-acetyllysine; by PCAF; alternate
up seq anno comments: O-linked (GlcNAc) threonine; alternate
up seq anno comments: Phospho-mimetic mutant; abolished regulation by AMBRA1.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by DYRK2, GSK3 and CDK2
up seq anno comments: Phosphoserine; by PIM2; in vitro
up seq anno comments: Phosphothreonine; by GSK3; alternate
up seq anno comments: Phosphothreonine; by RAF; in vitro
up seq anno comments: Polar residues
up seq anno comments: bHLH
up seq anno feature ids: CAR_000033
up seq anno feature ids: PRO_0000127293
up seq anno feature ids: VAR_016327
up seq anno feature ids: VAR_016328
up seq anno feature ids: VAR_016329
up seq anno feature ids: VAR_016330
up seq anno feature ids: VAR_063384
up seq anno feature ids: VAR_063385
up seq anno feature ids: VAR_063386
up seq anno feature ids: VAR_063387
up seq anno feature ids: VSP_037813

9606:IL3
gene id: 9606:IL3
uniprot id: P08700
up 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 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 comments: Interleukin-3
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000015516
up seq anno feature ids: VAR_013071
up seq anno feature ids: VAR_013072
up seq anno feature ids: VAR_034014
up seq anno feature ids: VAR_034015

9606:BTBD19
gene id: 9606:BTBD19
uniprot id: C9JJ37
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
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 19
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000394239
up seq anno feature ids: VSP_039226

9606:TRIM39
gene id: 9606:TRIM39
uniprot id: A0A024RCP5
uniprot id: A0A024RCR1
uniprot id: Q9HCM9
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: 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: 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: B30.2/SPRY
up seq anno comments: E3 ubiquitin-protein ligase TRIM39
up seq anno comments: In isoform 2.
up seq anno comments: RING-type
up seq anno feature ids: PRO_0000056257
up seq anno feature ids: VSP_005755

9606:KRTAP3-2
gene id: 9606:KRTAP3-2
uniprot id: Q9BYR7
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno comments: 1
up seq anno comments: 2
up seq anno comments: 3
up seq anno comments: Keratin-associated protein 3-2
up seq anno feature ids: PRO_0000185166
up seq anno feature ids: VAR_053454
up seq anno feature ids: VAR_053455
up seq anno feature ids: VAR_053456

9606:YPEL2
gene id: 9606:YPEL2
uniprot id: Q96QA6
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 comments: Protein yippee-like 2
up seq anno comments: Yippee
up seq anno feature ids: PRO_0000212385

9606:SLC12A5
gene id: 9606:SLC12A5
uniprot id: Q9H2X9
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: Secondary Structure
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: 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: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Helical
up seq anno comments: In DEE34; results in loss of chloride transport; decreased localization at the cell surface.
up seq anno comments: In DEE34; results in reduced chloride transport; decreased localization at the cell surface.
up seq anno comments: In EIG14; rare variant associated with disease susceptibility; results in reduced chloride transport.
up seq anno comments: In EIG14; rare variant associated with disease susceptibility; results in reduced chloride transport; decreased localization at the cell surface; unable to induce cortical dendritic spines formation.
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 comments: Phosphothreonine
up seq anno comments: Solute carrier family 12 member 5
up seq anno feature ids: PRO_0000178034
up seq anno feature ids: VAR_024994
up seq anno feature ids: VAR_027414
up seq anno feature ids: VAR_036557
up seq anno feature ids: VAR_075078
up seq anno feature ids: VAR_075079
up seq anno feature ids: VAR_075080
up seq anno feature ids: VAR_075081
up seq anno feature ids: VAR_075082
up seq anno feature ids: VAR_075083
up seq anno feature ids: VSP_029909

9606:TMEM218
gene id: 9606:TMEM218
uniprot id: A2RU14
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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: In JBTS39.
up seq anno comments: In JBTS39; fails to rescue the ciliopathy phenotype in a zebrafish disease model.
up seq anno comments: In JBTS39; unknown pathological significance.
up seq anno comments: Probable disease-associated variant found in patients with Meckel syndrome.
up seq anno comments: Transmembrane protein 218
up seq anno feature ids: PRO_0000321836
up seq anno feature ids: VAR_086385
up seq anno feature ids: VAR_086386
up seq anno feature ids: VAR_086387
up seq anno feature ids: VAR_086388
up seq anno feature ids: VAR_086402

9606:PRLR
gene id: 9606:PRLR
uniprot id: P16471
up 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: 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: Motif
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: 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 HPRL; loss of function.
up seq anno comments: In MFAB; confers constitutive 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: In isoform 6 and isoform 8.
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: N-linked (GlcNAc...) asparagine
up seq anno comments: Prolactin receptor
up seq anno comments: WSXWS motif
up seq anno feature ids: PRO_0000010977
up seq anno feature ids: VAR_049172
up seq anno feature ids: VAR_070894
up seq anno feature ids: VAR_070895
up seq anno feature ids: VSP_001720
up seq anno feature ids: VSP_012620
up seq anno feature ids: VSP_012621
up seq anno feature ids: VSP_026531
up seq anno feature ids: VSP_026532
up seq anno feature ids: VSP_026533
up seq anno feature ids: VSP_026534
up seq anno feature ids: VSP_026535
up seq anno feature ids: VSP_026536
up seq anno feature ids: VSP_026537
up seq anno feature ids: VSP_026538
up seq anno feature ids: VSP_026539
up seq anno feature ids: VSP_047882
up seq anno feature ids: VSP_047883

9606:CAVIN3
gene id: 9606:CAVIN3
uniprot id: Q969G5
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Crosslink
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno comments: Caveolae-associated protein 3
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000331412
up seq anno feature ids: VAR_042851
up seq anno feature ids: VAR_042852
up seq anno feature ids: VAR_042853
up seq anno feature ids: VAR_042854

9606:GORASP2
gene id: 9606:GORASP2
uniprot id: Q9H8Y8
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: Secondary Structure
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: 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: Abolishes mitotic phosphorylation; when associated with A-222.
up seq anno comments: Abolishes mitotic phosphorylation; when associated with A-225.
up seq anno comments: Abolishes myristoylation. Loss of its ability to mediate unconventional (ER/Golgi-independent) trafficking of CFTR to the cell membrane. No effect on ER stress-induced relocalization from Golgi to ER.
up seq anno comments: Abolishes organelle clustering; when associated with A-59.
up seq anno comments: Abolishes organelle clustering; when associated with S-100.
up seq anno comments: Dimethylated arginine
up seq anno comments: Enhances homodimerization. Loss of ER stress-induced relocalization from Golgi to ER.
up seq anno comments: Golgi reassembly-stacking protein 2
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of phosphorylation and its ability to mediate unconventional (ER/Golgi-independent) trafficking of CFTR to the cell membrane. Inhibits ER stress-mediated disruption of homodimerization. Loss of ER stress-induced relocalization from Golgi to ER.
up seq anno comments: Loss of phosphorylation. Does not inhibit ER stress-mediated disruption of homodimerization.
up seq anno comments: N-myristoyl glycine
up seq anno comments: PDZ GRASP-type 1
up seq anno comments: PDZ GRASP-type 2
up seq anno comments: Phosphomimetic mutant. No disruption of homodimerization.
up seq anno comments: Phosphomimetic mutant. No loss of its ability to mediate unconventional (ER/Golgi-independent) trafficking of CFTR to the cell membrane. Disrupts homodimerization. No loss of ER stress-induced relocalization from Golgi to ER.
up seq anno comments: Phosphomimetic mutant. Partial disruption of homodimerization.
up seq anno comments: Phosphomimetic mutation that decreases the ability to promote organelle clustering.
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_0000087545
up seq anno feature ids: VAR_051013
up seq anno feature ids: VSP_011300
up seq anno feature ids: VSP_054364

9606:NIF3L1
gene id: 9606:NIF3L1
uniprot id: Q9GZT8
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 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 isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N6-acetyllysine
up seq anno comments: NIF3-like protein 1
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000147353
up seq anno feature ids: VAR_037084
up seq anno feature ids: VSP_029328
up seq anno feature ids: VSP_043248

9606:HECTD1
gene id: 9606:HECTD1
uniprot id: A0A087X2H1
uniprot id: A0A8I5QJU2
uniprot id: H0YJD4
uniprot id: Q9ULT8
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: Secondary Structure
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: 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: 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: Abolished E3 ubiquitin-protein ligase activity.
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: E3 ubiquitin-protein ligase HECTD1
up seq anno comments: Glycyl thioester intermediate
up seq anno comments: HECT
up seq anno comments: MIB/HERC2
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000083945
up seq anno feature ids: VAR_059666
up seq anno feature ids: VAR_067707

9606:JOSD2
gene id: 9606:JOSD2
uniprot id: A0A024R4G2
uniprot id: Q7Z7N5
uniprot id: Q8TAC2
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: 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: Helix
up seq anno labels: Mutagenesis Site
up seq anno labels: Non-terminal Residue
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: In isoform 2.
up seq anno comments: Josephin
up seq anno comments: Josephin-2
up seq anno comments: Loss of deubiquitination activity, no change in subcellular location.
up seq anno comments: Nucleophile
up seq anno comments: Proton acceptor
up seq anno feature ids: PRO_0000053843
up seq anno feature ids: VSP_047537

9606:DIPK1C
gene id: 9606:DIPK1C
uniprot id: Q0P6D2
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Motif
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: Divergent protein kinase domain 1C
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Lumenal
up seq anno comments: May mediate ER retention
up seq anno feature ids: PRO_0000286707
up seq anno feature ids: VSP_025146

9606:RABGAP1L
gene id: 9606:RABGAP1L
uniprot id: A0A804HKD7
uniprot id: B7ZAP0
uniprot id: F1LJ00
uniprot id: F5H8L0
uniprot id: Q5R372
uniprot id: Q9Y3L8
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: 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: 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 labels: Turn
up seq anno comments: Basic and acidic residues
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 and isoform 6.
up seq anno comments: In isoform 5, isoform 6, isoform 7 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: In isoform 9.
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: Rab GTPase-activating protein 1-like
up seq anno comments: Rab GTPase-activating protein 1-like, isoform 10
up seq anno comments: Rab-GAP TBC
up seq anno feature ids: PRO_0000348054
up seq anno feature ids: PRO_0000417613
up seq anno feature ids: VAR_052533
up seq anno feature ids: VSP_035087
up seq anno feature ids: VSP_052912
up seq anno feature ids: VSP_052913
up seq anno feature ids: VSP_052914
up seq anno feature ids: VSP_052915
up seq anno feature ids: VSP_052916
up seq anno feature ids: VSP_052917
up seq anno feature ids: VSP_052918
up seq anno feature ids: VSP_052919
up seq anno feature ids: VSP_052920
up seq anno feature ids: VSP_052921
up seq anno feature ids: VSP_052922
up seq anno feature ids: VSP_052923
up seq anno feature ids: VSP_052924

9606:SKP2
gene id: 9606:SKP2
uniprot id: A0A024R069
uniprot id: D6R9R7
uniprot id: Q13309
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: Secondary Structure
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 Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: F-box
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 10
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: N6-acetyllysine; by p300/EP300
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno comments: S-phase kinase-associated protein 2
up seq anno feature ids: PRO_0000119954
up seq anno feature ids: VAR_016984
up seq anno feature ids: VAR_016985
up seq anno feature ids: VSP_008432
up seq anno feature ids: VSP_044931
up seq anno feature ids: VSP_044932

9606:SUMO3
gene id: 9606:SUMO3
uniprot id: P55854
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: Secondary Structure
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: 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 the formation of poly(SUMO) chains.
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 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: Impaired interaction with USP25; when associated with A-33.
up seq anno comments: Impaired interaction with USP25; when associated with A-34.
up seq anno comments: In isoform 2.
up seq anno comments: Small ubiquitin-related modifier 3
up seq anno comments: Ubiquitin-like
up seq anno feature ids: PRO_0000035957
up seq anno feature ids: PRO_0000035958
up seq anno feature ids: VAR_052692
up seq anno feature ids: VSP_054693

9606:KIF26A
gene id: 9606:KIF26A
uniprot id: Q9ULI4
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: 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: Sequence Conflict
up seq anno comments: Kinesin motor
up seq anno comments: Kinesin-like protein KIF26A
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000307299

9606:KLHL32
gene id: 9606:KLHL32
uniprot id: Q6IQ08
uniprot id: Q96NJ5
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 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:POU5F1B
gene id: 9606:POU5F1B
uniprot id: Q06416
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Homeobox
up seq anno comments: POU-specific
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Putative POU domain, class 5, transcription factor 1B
up seq anno feature ids: PRO_0000100753
up seq anno feature ids: VAR_067432
up seq anno feature ids: VAR_067433
up seq anno feature ids: VAR_067434
up seq anno feature ids: VAR_067435
up seq anno feature ids: VAR_067436
up seq anno feature ids: VAR_067437
up seq anno feature ids: VAR_067438

9606:POMP
gene id: 9606:POMP
uniprot id: Q9Y244
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: Crosslink
up seq anno labels: Motif
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: High-affinity association with the preproteasome
up seq anno comments: Proteasome maturation protein
up seq anno feature ids: PRO_0000247184

9606:LAPTM5
gene id: 9606:LAPTM5
uniprot id: Q13571
uniprot id: Q5TBB8
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 labels: Chain
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: Helical
up seq anno comments: Lysosomal-associated transmembrane protein 5
up seq anno comments: Phosphotyrosine
up seq anno feature ids: PRO_0000084357
up seq anno feature ids: VAR_053653

9606:CCNL2
gene id: 9606:CCNL2
uniprot id: Q96S94
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 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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Cyclin-L2
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-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno feature ids: PRO_0000080487
up seq anno feature ids: VSP_016130
up seq anno feature ids: VSP_016131
up seq anno feature ids: VSP_016132
up seq anno feature ids: VSP_058301
up seq anno feature ids: VSP_058302
up seq anno feature ids: VSP_058303
up seq anno feature ids: VSP_058304

9606:CPNE3
gene id: 9606:CPNE3
uniprot id: A0A024R994
uniprot id: O75131
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: 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 comments: C2
up seq anno comments: C2 1
up seq anno comments: C2 2
up seq anno comments: Copine-3
up seq anno comments: Phosphoserine
up seq anno comments: VWFA
up seq anno feature ids: PRO_0000144838
up seq anno feature ids: VAR_024424
up seq anno feature ids: VAR_048848

9606:TP53I13
gene id: 9606:TP53I13
uniprot id: A0A024QZ67
uniprot id: Q8NBR0
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: 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: Polar residues
up seq anno comments: Tumor protein p53-inducible protein 13
up seq anno feature ids: PRO_0000333824

9606:GNPDA2
gene id: 9606:GNPDA2
uniprot id: A0A024R9X5
uniprot id: Q8TDQ7
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: Site
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: 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: Glucosamine_iso
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:TUBB2A
gene id: 9606:TUBB2A
uniprot id: Q13885
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: Secondary Structure
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: 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: Strand
up seq anno labels: Turn
up seq anno comments: 5-glutamyl polyglutamate
up seq anno comments: Acidic residues
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 CDCBM5; abolishes coassembly with tubulin subunits and incorporation into the microtubule polymer network.
up seq anno comments: In CDCBM5; reduces coassembly with tubulin subunits and incorporation into the microtubule polymer network.
up seq anno comments: In a colorectal cancer sample; somatic mutation.
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-2A chain
up seq anno feature ids: PRO_0000262648
up seq anno feature ids: VAR_036197
up seq anno feature ids: VAR_071168
up seq anno feature ids: VAR_071169

9606:OR9K2
gene id: 9606:OR9K2
uniprot id: A0A126GW01
uniprot id: Q8NGE7
up 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 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_RECEP_F1_2
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: N-linked (GlcNAc...) asparagine
up seq anno comments: Olfactory receptor 9K2
up seq anno feature ids: PRO_0000150682
up seq anno feature ids: VAR_048057
up seq anno feature ids: VAR_048058
up seq anno feature ids: VAR_048059

9606:SYT10
gene id: 9606:SYT10
uniprot id: Q6XYQ8
up 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: 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 labels: Topological Domain
up seq anno labels: Transmembrane
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: 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:NKX1-1
gene id: 9606:NKX1-1
uniprot id: Q15270
up seq anno parent labels: Experimental Information
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: Sequence Conflict
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: Homeobox
up seq anno comments: NK1 transcription factor-related protein 1
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000333009

9606:DNAJC6
gene id: 9606:DNAJC6
uniprot id: O75061
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: 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: Modified Residue
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: Splice Variant
up seq anno comments: 1
up seq anno comments: 2
up seq anno comments: 3
up seq anno comments: C2 tensin-type
up seq anno comments: In PARK19B; patient fibroblasts show decreased levels of the protein.
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: J
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphatase tensin-type
up seq anno comments: Phosphocysteine intermediate
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Putative tyrosine-protein phosphatase auxilin
up seq anno comments: SH3-binding
up seq anno feature ids: PRO_0000244516
up seq anno feature ids: VAR_026908
up seq anno feature ids: VAR_077924
up seq anno feature ids: VAR_077925
up seq anno feature ids: VAR_077926
up seq anno feature ids: VAR_077927
up seq anno feature ids: VAR_077928
up seq anno feature ids: VAR_077929
up seq anno feature ids: VSP_019579
up seq anno feature ids: VSP_019580
up seq anno feature ids: VSP_019581

9606:RAD51B
gene id: 9606:RAD51B
uniprot id: A0A024R656
uniprot id: C9JYJ0
uniprot id: O15315
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: 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 labels: Splice Variant
up seq anno comments: Abolishes interaction with BCR-ABL SH3 domain.
up seq anno comments: DNA repair protein RAD51 homolog 2
up seq anno comments: In isoform 2.
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: RECA_2
up seq anno feature ids: PRO_0000122939
up seq anno feature ids: VAR_025243
up seq anno feature ids: VAR_025244
up seq anno feature ids: VAR_025245
up seq anno feature ids: VAR_025246
up seq anno feature ids: VAR_025247
up seq anno feature ids: VAR_025248
up seq anno feature ids: VAR_035437
up seq anno feature ids: VAR_051730
up seq anno feature ids: VSP_008817
up seq anno feature ids: VSP_008818
up seq anno feature ids: VSP_008819
up seq anno feature ids: VSP_008820

9606:NEMP1
gene id: 9606:NEMP1
uniprot id: O14524
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 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: 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: Nuclear envelope integral membrane protein 1
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000050744
up seq anno feature ids: VAR_057817
up seq anno feature ids: VSP_011896

9606:TNFSF12-TNFSF13
gene id: 9606:TNFSF12-TNFSF13
uniprot id: A0A0A6YY99
uniprot id: O43508
up 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 labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Glycosylation 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: Extracellular
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In isoform TWE-PRIL.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: TNF_2
up seq anno comments: Tumor necrosis factor ligand superfamily member 12, membrane form
up seq anno comments: Tumor necrosis factor ligand superfamily member 12, secreted form
up seq anno feature ids: PRO_0000034520
up seq anno feature ids: PRO_0000034521
up seq anno feature ids: VSP_045245

9606:TPGS1
gene id: 9606:TPGS1
uniprot id: Q6ZTW0
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Tubulin polyglutamylase complex subunit 1
up seq anno feature ids: PRO_0000249316
up seq anno feature ids: VSP_020401

9606:ZNF607
gene id: 9606:ZNF607
uniprot id: Q96SK3
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 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 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 20
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; degenerate
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 607
up seq anno feature ids: PRO_0000047689
up seq anno feature ids: VAR_057974
up seq anno feature ids: VAR_057975
up seq anno feature ids: VAR_057976
up seq anno feature ids: VAR_057977
up seq anno feature ids: VAR_057978
up seq anno feature ids: VAR_058306
up seq anno feature ids: VAR_058307
up seq anno feature ids: VSP_037503
up seq anno feature ids: VSP_046843

9606:UVSSA
gene id: 9606:UVSSA
uniprot id: Q2YD98
uniprot id: Q69YU2
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: Secondary Structure
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: 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: Basic and acidic residues
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Impairs interaction with the TFIIH complex.
up seq anno comments: Impairs transcription-coupled nucleotide excision repair ability.
up seq anno comments: In UVSS3; mild phenotype; impairs transcription-coupled nucleotide excision repair ability.
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: UV-stimulated scaffold protein A
up seq anno feature ids: PRO_0000317282
up seq anno feature ids: VAR_038499
up seq anno feature ids: VAR_038500
up seq anno feature ids: VAR_067798
up seq anno feature ids: VSP_030932

9606:TEAD2
gene id: 9606:TEAD2
uniprot id: A0A024QZE2
uniprot id: Q15562
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 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: 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 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 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:ATP5MG
gene id: 9606:ATP5MG
uniprot id: O75964
up seq anno parent labels: Experimental Information
up seq anno parent labels: Modification
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 labels: Sequence Conflict
up seq anno comments: ATP synthase subunit g, mitochondrial
up seq anno comments: N-acetylalanine
up seq anno comments: N6-acetyllysine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000071691

9606:GPC5
gene id: 9606:GPC5
uniprot id: P78333
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Glycosylation 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 comments: Basic and acidic residues
up seq anno comments: Glypican-5
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: O-linked (Xyl...) (glycosaminoglycan) serine
up seq anno comments: Removed in mature form
up seq anno comments: Secreted glypican-5
up seq anno feature ids: PRO_0000012319
up seq anno feature ids: PRO_0000012320
up seq anno feature ids: PRO_0000333849
up seq anno feature ids: VAR_024228

9606:C1orf105
gene id: 9606:C1orf105
uniprot id: O95561
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno comments: Uncharacterized protein C1orf105
up seq anno feature ids: PRO_0000251727
up seq anno feature ids: VAR_027710
up seq anno feature ids: VAR_027711

9606:LRFN3
gene id: 9606:LRFN3
uniprot id: Q9BTN0
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 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: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
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 3
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000014841
up seq anno feature ids: VAR_049895

9606:RCSD1
gene id: 9606:RCSD1
uniprot id: B7ZKW8
uniprot id: Q6JBY9
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 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: 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: CAP-ZIP_m
up seq anno comments: CapZ-interacting protein
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by MAPK12 and MAPK13
up seq anno comments: Phosphoserine; by MAPK8; in vitro
up seq anno comments: Phosphoserine; by MAPKAPK2 and MAPKAPK3
up seq anno comments: Phosphoserine; by MAPKAPK2 or MAPKAPK3; in vitro
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: RCSD
up seq anno feature ids: PRO_0000320262
up seq anno feature ids: VAR_039181
up seq anno feature ids: VSP_031648

9606:HK3
gene id: 9606:HK3
uniprot id: A0A024R7R1
uniprot id: P52790
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: 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: Turn
up seq anno comments: Hexokinase 1
up seq anno comments: Hexokinase 2
up seq anno comments: Hexokinase-3
up seq anno comments: Hexokinase_1
up seq anno comments: Hexokinase_2
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 feature ids: PRO_0000197590
up seq anno feature ids: VAR_034004
up seq anno feature ids: VAR_036186
up seq anno feature ids: VAR_036187

9606:ADGRG7
gene id: 9606:ADGRG7
uniprot id: B7Z303
uniprot id: E9PHI0
uniprot id: Q6ZMH4
uniprot id: Q96K78
up 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 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: Adhesion G-protein coupled receptor G7
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: GPS
up seq anno comments: G_PROTEIN_RECEP_F2_4
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 feature ids: PRO_0000012903
up seq anno feature ids: PRO_5002866697
up seq anno feature ids: PRO_5003245033
up seq anno feature ids: VAR_049459
up seq anno feature ids: VAR_049460
up seq anno feature ids: VAR_055138

9606:OR2A7
gene id: 9606:OR2A7
uniprot id: A0A126GWD8
uniprot id: Q96R45
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 labels: Chain
up seq anno labels: Domain Extent
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: G_PROTEIN_RECEP_F1_2
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 2A7
up seq anno feature ids: PRO_0000150456

9606:INTS14
gene id: 9606:INTS14
uniprot id: B4DWZ3
uniprot id: Q96SY0
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: Secondary Structure
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: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: IntS14_C
up seq anno comments: IntS14_b-barrel
up seq anno comments: Integrator complex subunit 14
up seq anno comments: N6-acetyllysine
up seq anno comments: VWFA
up seq anno feature ids: PRO_0000296266
up seq anno feature ids: VSP_027180
up seq anno feature ids: VSP_027181
up seq anno feature ids: VSP_043277
up seq anno feature ids: VSP_044250

9606:G0S2
gene id: 9606:G0S2
uniprot id: P27469
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno labels: Mutagenesis Site
up seq anno comments: G0/G1 switch protein 2
up seq anno comments: No effect on BCL2-binding; when associated with A-35.
up seq anno comments: No effect on BCL2-binding; when associated with A-36.
up seq anno comments: No effect on BCL2-binding; when associated with A-38.
up seq anno comments: No effect on BCL2-binding; when associated with A-39.
up seq anno comments: No effect on BCL2-binding; when associated with A-43.
up seq anno comments: No effect on BCL2-binding; when associated with A-44.
up seq anno comments: No effect on BCL2-binding; when associated with A-45.
up seq anno comments: No effect on BCL2-binding; when associated with A-46.
up seq anno comments: Reduced BCL2-binding and reduced pro-apoptotic activity; when associated with A-57. No effect on mitochondrial localization; when associated with A-57.
up seq anno comments: Reduced BCL2-binding and reduced pro-apoptotic activity; when associated with A-58. No effect on mitochondrial localization; when associated with A-58.
up seq anno comments: Reduced BCL2-binding; when associated with A-50.
up seq anno comments: Reduced BCL2-binding; when associated with A-51.
up seq anno comments: Reduced BCL2-binding; when associated with A-54.
up seq anno comments: Reduced BCL2-binding; when associated with A-55.
up seq anno feature ids: PRO_0000087405

9606:TVP23C-CDRT4
gene id: 9606:TVP23C-CDRT4
uniprot id: A0A0A6YYB9
uniprot id: Q96ET8
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 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 labels: Transmembrane
up seq anno comments: Golgi apparatus membrane protein TVP23 homolog C
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 feature ids: PRO_0000212831
up seq anno feature ids: VAR_024929
up seq anno feature ids: VAR_055797
up seq anno feature ids: VSP_017019
up seq anno feature ids: VSP_017020
up seq anno feature ids: VSP_040556
up seq anno feature ids: VSP_040557

9606:RPL15
gene id: 9606:RPL15
uniprot id: A0A024R2Q4
uniprot id: P61313
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Crosslink
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: Splice Variant
up seq anno comments: 60S ribosomal protein L15
up seq anno comments: Basic residues
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-myristoyl glycine
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000127527
up seq anno feature ids: VSP_045144

9606:RRM1
gene id: 9606:RRM1
uniprot id: B4DXD1
uniprot id: B4E0I8
uniprot id: E9PL69
uniprot id: P23921
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: Secondary Structure
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: 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: ATP-cone
up seq anno comments: Cysteine radical intermediate
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphothreonine
up seq anno comments: Proton acceptor
up seq anno comments: RIBORED_LARGE
up seq anno comments: Redox-active
up seq anno comments: Ribonucleoside-diphosphate reductase large subunit
up seq anno comments: Severely decreases interaction with AHCYL1 in the presence of dATP.
up seq anno feature ids: PRO_0000187190
up seq anno feature ids: VAR_052052
up seq anno feature ids: VAR_052053

9606:SNX3
gene id: 9606:SNX3
uniprot id: O60493
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: Secondary Structure
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: 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 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: 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:DEFB119
gene id: 9606:DEFB119
uniprot id: Q5GRG0
uniprot id: Q8N690
up 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 labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Peptide
up seq anno labels: Signal Peptide
up seq anno labels: Splice Variant
up seq anno comments: Beta-defensin
up seq anno comments: Beta-defensin 119
up seq anno comments: Defensin_beta_2
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno feature ids: PRO_0000006987
up seq anno feature ids: PRO_5005143664
up seq anno feature ids: VSP_029871
up seq anno feature ids: VSP_043188

9606:FAM47B
gene id: 9606:FAM47B
uniprot id: Q8NA70
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno comments: Protein FAM47B
up seq anno feature ids: PRO_0000187038

9606:SHANK1
gene id: 9606:SHANK1
uniprot id: H9KV90
uniprot id: Q9Y566
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: Secondary Structure
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: 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
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: Asymmetric dimethylarginine
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
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: Omega-N-methylarginine
up seq anno comments: PDZ
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 comments: SH3
up seq anno comments: SH3 and multiple ankyrin repeat domains protein 1
up seq anno feature ids: PRO_0000174671
up seq anno feature ids: VAR_022123
up seq anno feature ids: VAR_036541
up seq anno feature ids: VAR_036542
up seq anno feature ids: VAR_055318
up seq anno feature ids: VSP_006069
up seq anno feature ids: VSP_006070
up seq anno feature ids: VSP_006071

9606:EPN1
gene id: 9606:EPN1
uniprot id: A0A024R4S1
uniprot id: Q9Y6I3
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: Secondary Structure
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: Helix
up seq anno labels: Modified Residue
up seq anno labels: Motif
up seq anno labels: Mutagenesis Site
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: Abolishes phosphorylation by CDK1 and reduces REPS2 binding.
up seq anno comments: Abolishes phosphorylation by CDK1.
up seq anno comments: ENTH
up seq anno comments: Epsin-1
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: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CDK1
up seq anno comments: Phosphothreonine
up seq anno comments: Pro residues
up seq anno comments: Reduces interaction with AP2B1.
up seq anno comments: UIM 1
up seq anno comments: UIM 2
up seq anno comments: UIM 3
up seq anno comments: [DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif
up seq anno feature ids: PRO_0000074513
up seq anno feature ids: VSP_041010
up seq anno feature ids: VSP_041011
up seq anno feature ids: VSP_041012

9606:MAP7
gene id: 9606:MAP7
uniprot id: A0A087WZ40
uniprot id: B7Z3E1
uniprot id: B7Z3Y3
uniprot id: B7ZB64
uniprot id: Q14244
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 labels: Chain
up seq anno labels: Coiled-Coil
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: 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: Ensconsin
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4 and isoform 7.
up seq anno comments: In isoform 5.
up seq anno comments: In isoform 6.
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_0000255949
up seq anno feature ids: VAR_028880
up seq anno feature ids: VAR_034091
up seq anno feature ids: VAR_034092
up seq anno feature ids: VSP_021316
up seq anno feature ids: VSP_021317
up seq anno feature ids: VSP_043335
up seq anno feature ids: VSP_043336
up seq anno feature ids: VSP_046758

9606:CKMT2
gene id: 9606:CKMT2
uniprot id: A0A024RAK5
uniprot id: P17540
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: 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: Strand
up seq anno labels: Transit Peptide
up seq anno labels: Turn
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:PRORY
gene id: 9606:PRORY
uniprot id: Q9H606
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 comments: DUF1725
up seq anno comments: Pro residues
up seq anno comments: Proline-rich protein, Y-linked
up seq anno feature ids: PRO_0000348077

9606:PPP1R14D
gene id: 9606:PPP1R14D
uniprot id: E9PAT1
uniprot id: Q9NXH3
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Mutagenesis Site
up seq anno comments: Basic and acidic residues
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno comments: Protein phosphatase 1 regulatory subunit 14D
up seq anno comments: Reduces inhibitory activity by 13%.
up seq anno comments: Reduces inhibitory activity by 16%. Reduces phosphorylation.
up seq anno comments: Reduces inhibitory activity by 57%.
up seq anno feature ids: PRO_0000071497

9606:ACAN
gene id: 9606:ACAN
uniprot id: A0A5K1VW97
uniprot id: P16112
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: 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: 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: 1-1
up seq anno comments: 1-10; approximate
up seq anno comments: 1-11
up seq anno comments: 1-12
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; approximate
up seq anno comments: 1-8; approximate
up seq anno comments: 1-9
up seq anno comments: 2-1
up seq anno comments: 2-10
up seq anno comments: 2-11
up seq anno comments: 2-12
up seq anno comments: 2-13
up seq anno comments: 2-14
up seq anno comments: 2-15
up seq anno comments: 2-16
up seq anno comments: 2-17
up seq anno comments: 2-18
up seq anno comments: 2-19
up seq anno comments: 2-2
up seq anno comments: 2-20
up seq anno comments: 2-21
up seq anno comments: 2-22
up seq anno comments: 2-23
up seq anno comments: 2-24
up seq anno comments: 2-25
up seq anno comments: 2-26
up seq anno comments: 2-27
up seq anno comments: 2-28
up seq anno comments: 2-29
up seq anno comments: 2-3
up seq anno comments: 2-30
up seq anno comments: 2-31
up seq anno comments: 2-32
up seq anno comments: 2-33; approximate
up seq anno comments: 2-34
up seq anno comments: 2-35
up seq anno comments: 2-4
up seq anno comments: 2-5
up seq anno comments: 2-6
up seq anno comments: 2-7
up seq anno comments: 2-8
up seq anno comments: 2-9
up seq anno comments: Aggrecan core protein
up seq anno comments: Aggrecan core protein 2
up seq anno comments: Basic residues
up seq anno comments: C-type lectin
up seq anno comments: EGF-like
up seq anno comments: Ig-like
up seq anno comments: Ig-like V-type
up seq anno comments: In SEMDAG; creates a functional N-glycosylation site; does not adversely affect protein trafficking and secretion.
up seq anno comments: In SSOAOD.
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: Link
up seq anno comments: Link 1

9606:LRP3
gene id: 9606:LRP3
uniprot id: O75074
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 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: 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: 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:PCDHGB5
gene id: 9606:PCDHGB5
uniprot id: Q9Y5G0
up 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 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: 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 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:FAM104A
gene id: 9606:FAM104A
uniprot id: Q969W3
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: In isoform 2.
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Polar residues
up seq anno comments: Protein FAM104A
up seq anno feature ids: PRO_0000236182
up seq anno feature ids: VSP_039868

9606:PDK2
gene id: 9606:PDK2
uniprot id: Q15119
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: Secondary Structure
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: 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: Histidine kinase
up seq anno comments: In a glioblastoma multiforme sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: Mitochondrion
up seq anno comments: N6-succinyllysine
up seq anno comments: Phosphotyrosine
up seq anno comments: [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 2, mitochondrial
up seq anno feature ids: PRO_0000023440
up seq anno feature ids: VAR_042296
up seq anno feature ids: VSP_042549

9606:OR5K1
gene id: 9606:OR5K1
uniprot id: A0A126GWC1
uniprot id: Q8NHB7
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: 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_RECEP_F1_2
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:RHCG
gene id: 9606:RHCG
uniprot id: Q9UBD6
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: Secondary Structure
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: Ammonium transporter Rh type C
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Loss of function.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Reduction of ammonia transport.
up seq anno feature ids: PRO_0000283577
up seq anno feature ids: VAR_031496

9606:C20orf202
gene id: 9606:C20orf202
uniprot id: A1L168
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno comments: Uncharacterized protein C20orf202
up seq anno feature ids: PRO_0000334676

9606:CASP14
gene id: 9606:CASP14
uniprot id: B2CIS9
uniprot id: P31944
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: Domain Extent
up seq anno labels: Propeptide
up seq anno comments: CASPASE_P10
up seq anno comments: CASPASE_P20
up seq anno comments: Caspase-14 subunit p10, mature form
up seq anno comments: Caspase-14 subunit p17, mature form
up seq anno comments: Caspase-14 subunit p20, intermediate form
up seq anno comments: Caspase-14 subunit p8, intermediate form
up seq anno feature ids: PRO_0000004652
up seq anno feature ids: PRO_0000004654
up seq anno feature ids: PRO_0000432793
up seq anno feature ids: PRO_0000432794
up seq anno feature ids: PRO_0000432795
up seq anno feature ids: PRO_0000432796

9606:CEMIP2
gene id: 9606:CEMIP2
uniprot id: A0A024R229
uniprot id: Q9UHN6
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 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: 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: Cell surface hyaluronidase
up seq anno comments: Cytoplasmic
up seq anno comments: Does not affect hyaluronidase activity.
up seq anno comments: Extracellular
up seq anno comments: G8
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: 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 comments: Strongly decreased hyaluronidase activity.
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:PSG5
gene id: 9606:PSG5
uniprot id: A0A024R0S1
uniprot id: Q15238
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 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 comments: Cell attachment site
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: N-linked (GlcNAc...) asparagine
up seq anno comments: Pregnancy-specific beta-1-glycoprotein 5
up seq anno feature ids: PRO_0000014912
up seq anno feature ids: PRO_5014214187
up seq anno feature ids: VAR_016041
up seq anno feature ids: VAR_060260
up seq anno feature ids: VAR_060261
up seq anno feature ids: VAR_060262

9606:DRD5
gene id: 9606:DRD5
uniprot id: P21918
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 labels: Chain
up seq anno labels: Disulfide Bond
up seq anno labels: Glycosylation Site
up seq anno labels: Lipid Binding
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: Cytoplasmic
up seq anno comments: D(1B) dopamine receptor
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: Impairs subcellular location.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: S-palmitoyl cysteine
up seq anno feature ids: PRO_0000069405
up seq anno feature ids: VAR_003458
up seq anno feature ids: VAR_003459
up seq anno feature ids: VAR_003460
up seq anno feature ids: VAR_003461
up seq anno feature ids: VAR_011837
up seq anno feature ids: VAR_024254
up seq anno feature ids: VAR_029210
up seq anno feature ids: VAR_029211
up seq anno feature ids: VAR_029212
up seq anno feature ids: VAR_029213
up seq anno feature ids: VAR_029215
up seq anno feature ids: VAR_061217

9606:LOC84773-CYHR1
gene id: 9606:LOC84773-CYHR1
uniprot id: P0DTL6
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: In isoform 1.
up seq anno comments: In isoform 4 and isoform 2.
up seq anno comments: In isoform 4.
up seq anno comments: RING-type; degenerate
up seq anno comments: TRAF-type
up seq anno comments: Zinc finger TRAF-type-containing protein 1
up seq anno feature ids: PRO_0000328852
up seq anno feature ids: VSP_061632
up seq anno feature ids: VSP_061633
up seq anno feature ids: VSP_061634
up seq anno feature ids: VSP_061635

9606:NFRKB
gene id: 9606:NFRKB
uniprot id: A0A024R3K9
uniprot id: Q6P4R8
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: Secondary Structure
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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: DEUBAD
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: N6-acetyllysine
up seq anno comments: Nuclear factor related to kappa-B-binding protein
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000227807
up seq anno feature ids: VSP_017592
up seq anno feature ids: VSP_017593
up seq anno feature ids: VSP_017594

9606:HAL
gene id: 9606:HAL
uniprot id: P42357
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 labels: Chain
up seq anno labels: Crosslink
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: 2,3-didehydroalanine (Ser)
up seq anno comments: 5-imidazolinone (Ala-Gly)
up seq anno comments: Histidine ammonia-lyase
up seq anno comments: In HISTID.
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_0000161058
up seq anno feature ids: VAR_006042
up seq anno feature ids: VAR_022915
up seq anno feature ids: VAR_022916
up seq anno feature ids: VAR_022917
up seq anno feature ids: VAR_022918
up seq anno feature ids: VSP_044704
up seq anno feature ids: VSP_046003

9606:TMEM132D
gene id: 9606:TMEM132D
uniprot id: Q14C87
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: Transmembrane protein 132D
up seq anno feature ids: PRO_0000287100
up seq anno feature ids: VAR_032264
up seq anno feature ids: VAR_053887
up seq anno feature ids: VAR_053888
up seq anno feature ids: VSP_025307
up seq anno feature ids: VSP_025308

9606:CHRNA4
gene id: 9606:CHRNA4
uniprot id: P43681
uniprot id: Q4VAQ3
uniprot id: Q59FV0
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: Secondary Structure
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: 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 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 ENFL1.
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Neur_chan_LBD
up seq anno comments: Neur_chan_memb
up seq anno comments: Neuronal acetylcholine receptor subunit alpha-4
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: S-palmitoyl cysteine
up seq anno feature ids: PRO_0000000351
up seq anno feature ids: PRO_5022261607
up seq anno feature ids: VAR_000295
up seq anno feature ids: VAR_017531
up seq anno feature ids: VAR_023402
up seq anno feature ids: VAR_023403
up seq anno feature ids: VSP_054275
up seq anno feature ids: VSP_054276

9606:NICN1
gene id: 9606:NICN1
uniprot id: Q9BSH3
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Nicolin-1
up seq anno feature ids: PRO_0000096814
up seq anno feature ids: VSP_011420

9606:PRAM1
gene id: 9606:PRAM1
uniprot id: Q96QH2
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 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: Repeat
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence 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: Basic and acidic residues
up seq anno comments: PML-RARA-regulated adapter molecule 1
up seq anno comments: Phosphoserine
up seq anno comments: Pro residues
up seq anno comments: SH3
up seq anno feature ids: PRO_0000270171
up seq anno feature ids: VAR_029808
up seq anno feature ids: VAR_029809
up seq anno feature ids: VAR_029810
up seq anno feature ids: VAR_061692

9606:CYLC2
gene id: 9606:CYLC2
uniprot id: A0A024R146
uniprot id: Q14093
uniprot id: Q6PEJ5
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 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: Repeat
up seq anno labels: Sequence Variant
up seq anno comments: 1
up seq anno comments: 2
up seq anno comments: 3
up seq anno comments: Basic and acidic residues
up seq anno comments: Cylicin-2
up seq anno comments: Cylicin_N
up seq anno feature ids: PRO_0000079755
up seq anno feature ids: VAR_020100
up seq anno feature ids: VAR_020101
up seq anno feature ids: VAR_020102
up seq anno feature ids: VAR_050938
up seq anno feature ids: VAR_050939

9606:AKR1C3
gene id: 9606:AKR1C3
uniprot id: A0A0A0MSS8
uniprot id: B4DKT3
uniprot id: P42330
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: 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: Helix
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: Aldo-keto reductase family 1 member C3
up seq anno comments: Aldo_ket_red
up seq anno comments: Decrease in the retinaldehyde reductase activity. Exhibits changes in both KM and kcat values.
up seq anno comments: Decreases in the retinaldehyde reductase activity. 3-fold decrease in the kcat value, whereas the KM value does not vary.
up seq anno comments: In isoform 2.
up seq anno comments: No effect on 17beta-HSD activity.
up seq anno comments: Proton donor
up seq anno feature ids: PRO_0000124638
up seq anno feature ids: VAR_013288
up seq anno feature ids: VAR_013289
up seq anno feature ids: VAR_032767
up seq anno feature ids: VAR_032768
up seq anno feature ids: VAR_032769
up seq anno feature ids: VAR_061001
up seq anno feature ids: VSP_055798

9606:MB
gene id: 9606:MB
uniprot id: A0A1K0FU49
uniprot id: P02144
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: Secondary Structure
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 Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Turn
up seq anno comments: GLOBIN
up seq anno comments: Myoglobin
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_0000053303
up seq anno feature ids: VAR_003180
up seq anno feature ids: VAR_003181
up seq anno feature ids: VAR_003182
up seq anno feature ids: VAR_003183

9606:PXYLP1
gene id: 9606:PXYLP1
uniprot id: B7Z3R9
uniprot id: Q8TE99
uniprot id: Q9NT50
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: Site
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Glycosylation Site
up seq anno labels: Non-terminal Residue
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: 2-phosphoxylose phosphatase 1
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: Nucleophile
up seq anno comments: Proton donor
up seq anno feature ids: PRO_0000314924
up seq anno feature ids: PRO_5014568441
up seq anno feature ids: VSP_030432

9606:TIMP4
gene id: 9606:TIMP4
uniprot id: Q99727
up seq anno parent labels: Modification
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: Disulfide Bond
up seq anno labels: Domain Extent
up seq anno labels: Signal Peptide
up seq anno comments: Metalloproteinase inhibitor 4
up seq anno comments: NTR
up seq anno feature ids: PRO_0000034349

9606:OR8K5
gene id: 9606:OR8K5
uniprot id: Q8NH50
up 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 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 8K5
up seq anno feature ids: PRO_0000150673
up seq anno feature ids: VAR_048056

9606:IWS1
gene id: 9606:IWS1
uniprot id: Q96ST2
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: Secondary Structure
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: 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; half-length
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
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: 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:KDM6B
gene id: 9606:KDM6B
uniprot id: O15054
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: Secondary Structure
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: 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: Abolishes lysine-specific histone demethylase activity.
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In NEDCFSA.
up seq anno comments: In isoform 1.
up seq anno comments: JmjC
up seq anno comments: Lysine-specific demethylase 6B
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000292007
up seq anno feature ids: VAR_032927
up seq anno feature ids: VAR_061670
up seq anno feature ids: VAR_083120
up seq anno feature ids: VAR_083121
up seq anno feature ids: VAR_083122
up seq anno feature ids: VAR_083123
up seq anno feature ids: VAR_083124
up seq anno feature ids: VSP_040102

9606:TMBIM6
gene id: 9606:TMBIM6
uniprot id: A0A024R0Z5
uniprot id: P55061
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 labels: Chain
up seq anno labels: Crosslink
up seq anno labels: INTRAMEM
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: Abolishes calcium flux properties.
up seq anno comments: Bax inhibitor 1
up seq anno comments: Cytoplasmic
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 feature ids: PRO_0000179078
up seq anno feature ids: VSP_055119

9606:ALG5
gene id: 9606:ALG5
uniprot id: Q9Y673
up 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 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: Dolichyl-phosphate beta-glucosyltransferase
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_0000059098
up seq anno feature ids: VSP_041019

9606:VDR
gene id: 9606:VDR
uniprot id: F1D8P8
uniprot id: P11473
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: Site
up seq anno labels: Binding Site
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: 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 labels: Zinc Finger
up seq anno comments: 9aaTAD
up seq anno comments: Abolishes nuclear export.
up seq anno comments: In VDDR2A.
up seq anno comments: In VDDR2A; decreased calcitriol receptor activity; decreased affinity for calcitriol; decreased ligand-independent localization to the nucleus; loss of interaction with RXRA; decreased interaction with NCOR1; decreased interaction with NCOA1; decreased sequence-specific DNA-binding.
up seq anno comments: In VDDR2A; loss of calcitriol receptor activity; decreased affinity for calcitriol by a factor of 1000; no effect on interaction with RXRA; changed interaction with NCOR1; loss of interaction with NCOA1; no effect on sequence-specific DNA-binding.
up seq anno comments: In VDDR2A; loss of calcitriol receptor activity; loss of affinity for calcitriol; decreased ligand-independent localization to the nucleus; loss of interaction with RXRA; loss of interaction with NCOR1; loss of interaction with NCOA1; loss of sequence-specific DNA-binding.
up seq anno comments: In VDDR2A; loss of calcitriol receptor activity; loss of affinity for calcitriol; no effect on ligand-independent localization to the nucleus.
up seq anno comments: In VDDR2A; loss of calcitriol receptor activity; no effect on interaction with RXRA; changed interaction with NCOR1; loss of interaction with NCOA1; no effect on sequence-specific DNA-binding.
up seq anno comments: In isoform 2.
up seq anno comments: NR C4-type
up seq anno comments: NR LBD
up seq anno comments: Nuclear receptor
up seq anno comments: Polar residues
up seq anno comments: Promotes heterodimerization with RXRA; when associated with A-61 and A-62.
up seq anno comments: Promotes heterodimerization with RXRA; when associated with A-75.
up seq anno comments: Vitamin D3 receptor
up seq anno feature ids: PRO_0000053542
up seq anno feature ids: VAR_004656
up seq anno feature ids: VAR_004657
up seq anno feature ids: VAR_004658
up seq anno feature ids: VAR_004659
up seq anno feature ids: VAR_004660
up seq anno feature ids: VAR_004661
up seq anno feature ids: VAR_004662
up seq anno feature ids: VAR_004663
up seq anno feature ids: VAR_004664
up seq anno feature ids: VAR_004665
up seq anno feature ids: VAR_004666
up seq anno feature ids: VAR_004667
up seq anno feature ids: VAR_029309
up seq anno feature ids: VAR_029310
up seq anno feature ids: VAR_079325
up seq anno feature ids: VAR_079326
up seq anno feature ids: VAR_079327
up seq anno feature ids: VSP_047218

9606:AGA
gene id: 9606:AGA
uniprot id: P20933
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: Secondary Structure
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: 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: Turn
up seq anno comments: Blocked amino end (Ser)
up seq anno comments: Glycosylasparaginase alpha chain
up seq anno comments: Glycosylasparaginase beta chain
up seq anno comments: In AGU.
up seq anno comments: In AGU; most frequent mutation; abolishes autocatalytic cleavage and enzyme activity.
up seq anno comments: In AGU; specifically prevents the proteolytic activation cleavage of AGA in the endoplasmic reticulum.
up seq anno comments: In AGU; uncertain pathological significance.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Nucleophile
up seq anno feature ids: PRO_0000002333
up seq anno feature ids: PRO_0000002334
up seq anno feature ids: VAR_005069
up seq anno feature ids: VAR_005070
up seq anno feature ids: VAR_005071
up seq anno feature ids: VAR_005072
up seq anno feature ids: VAR_005073
up seq anno feature ids: VAR_005074
up seq anno feature ids: VAR_005075
up seq anno feature ids: VAR_015427
up seq anno feature ids: VAR_015428
up seq anno feature ids: VAR_015429
up seq anno feature ids: VAR_015430
up seq anno feature ids: VAR_015431
up seq anno feature ids: VAR_015432
up seq anno feature ids: VAR_033533
up seq anno feature ids: VAR_061026

9606:FAM3A
gene id: 9606:FAM3A
uniprot id: D3DWX8
uniprot id: P98173
uniprot id: Q9BU27
up 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 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 labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: ILEI
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Protein FAM3A
up seq anno feature ids: PRO_0000008748
up seq anno feature ids: VAR_011923
up seq anno feature ids: VAR_057531
up seq anno feature ids: VSP_042778
up seq anno feature ids: VSP_046733

9606:RUNDC3B
gene id: 9606:RUNDC3B
uniprot id: Q96NL0
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
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 and isoform 5.
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: RUN
up seq anno comments: RUN domain-containing protein 3B
up seq anno feature ids: PRO_0000336049
up seq anno feature ids: VAR_043473
up seq anno feature ids: VAR_043474
up seq anno feature ids: VAR_043475
up seq anno feature ids: VSP_033803
up seq anno feature ids: VSP_033804
up seq anno feature ids: VSP_033805
up seq anno feature ids: VSP_033806
up seq anno feature ids: VSP_033807

9606:SLC9B2
gene id: 9606:SLC9B2
uniprot id: A0A024RDJ7
uniprot id: B7Z488
uniprot id: B7Z676
uniprot id: E9PE63
uniprot id: Q86UD5
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: Secondary Structure
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: 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 isoform 2.
up seq anno comments: Loss of ion transport activity; Does not rescue insulin secretion defect induced by knockdown of SLC9B2 in Min6 cells.
up seq anno comments: Loss of ion transport activity;.
up seq anno comments: Na_H_Exchanger
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Sodium/hydrogen exchanger 9B2
up seq anno feature ids: PRO_0000331270
up seq anno feature ids: VAR_042751
up seq anno feature ids: VAR_042752
up seq anno feature ids: VAR_042753
up seq anno feature ids: VSP_033152
up seq anno feature ids: VSP_033153

9606:BORCS8-MEF2B
gene id: 9606:BORCS8-MEF2B
uniprot id: A0A024R7N0
uniprot id: Q02080
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 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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno comments: In isoform 2.
up seq anno comments: MADS-box
up seq anno comments: Mef2-type
up seq anno comments: Myocyte-specific enhancer factor 2B
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000199431
up seq anno feature ids: VSP_042322

9606:LRP2
gene id: 9606:LRP2
uniprot id: P98164
uniprot id: Q7Z5C0
uniprot id: Q7Z5C1
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: Secondary Structure
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: Helix
up seq anno labels: Modified Residue
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: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: EGF-like
up seq anno comments: EGF-like 1; calcium-binding
up seq anno comments: EGF-like 2
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
up seq anno comments: Endocytosis signal
up seq anno comments: Extracellular
up seq anno comments: Found in a renal cell carcinoma sample; somatic mutation.
up seq anno comments: Found in patients with a phenotype suggestive of Stickler syndrome; unknown pathological significance.
up seq anno comments: Found in patients with mild intellectual disability; unknown pathological significance.
up seq anno comments: Helical
up seq anno comments: In DBS.
up seq anno comments: In a colorectal cancer sample; somatic mutation.
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
up seq anno comments: LDL-receptor class A 31
up seq anno comments: LDL-receptor class A 32
up seq anno comments: LDL-receptor class A 33
up seq anno comments: LDL-receptor class A 34
up seq anno comments: LDL-receptor class A 35
up seq anno comments: LDL-receptor class A 36
up seq anno comments: LDL-receptor class A 4
up seq anno comments: LDL-receptor class A 5
up seq anno comments: LDL-receptor class A 6
up seq anno comments: LDL-receptor class A 7
up seq anno comments: LDL-receptor class A 8
up seq anno comments: LDL-receptor class A 9
up seq anno comments: LDL-receptor class B

9606:B3GNT3
gene id: 9606:B3GNT3
uniprot id: Q9Y2A9
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 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: Helical; Signal-anchor for type II membrane protein
up seq anno comments: Lumenal
up seq anno comments: N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 3
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000219172
up seq anno feature ids: VAR_022644
up seq anno feature ids: VAR_074178

9606:HAUS7
gene id: 9606:HAUS7
uniprot id: Q99871
up 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 labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Modified Residue
up seq anno labels: Splice Variant
up seq anno comments: HAUS augmin-like complex subunit 7
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_0000097552
up seq anno feature ids: VSP_037669
up seq anno feature ids: VSP_040920
up seq anno feature ids: VSP_040921

9606:RPL36A
gene id: 9606:RPL36A
uniprot id: P83881
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno comments: 60S ribosomal protein L36a
up seq anno feature ids: PRO_0000149117

9606:MAST3
gene id: 9606:MAST3
uniprot id: O60307
up 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: 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: 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: 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

9606:FHL1
gene id: 9606:FHL1
uniprot id: B7Z9A1
uniprot id: Q13642
uniprot id: Q5JXI2
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: Secondary Structure
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: 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: C4-type
up seq anno comments: Four and a half LIM domains protein 1
up seq anno comments: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: In EDMD6.
up seq anno comments: In EDMD6; drastically reduced protein levels in muscle.
up seq anno comments: In RBMX1A.
up seq anno comments: In RBMX1A; the mutant protein initiates aggregation of the FHL1 protein causing reducing bodies formation; dominant-negative effect.
up seq anno comments: In RBMX1A; unknown pathological significance.
up seq anno comments: In RBMX1B.
up seq anno comments: In RBMX1B; unknown pathological significance.
up seq anno comments: In SPM.
up seq anno comments: In XMPMA.
up seq anno comments: In XMPMA; unknown pathological significance.
up seq anno comments: In isoform 1, isoform 4 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: 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: N6-acetyllysine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000075735
up seq anno feature ids: VAR_042603
up seq anno feature ids: VAR_042604
up seq anno feature ids: VAR_042605
up seq anno feature ids: VAR_045999
up seq anno feature ids: VAR_046000
up seq anno feature ids: VAR_046001
up seq anno feature ids: VAR_046002
up seq anno feature ids: VAR_075350
up seq anno feature ids: VAR_075351
up seq anno feature ids: VAR_075352
up seq anno feature ids: VAR_075353
up seq anno feature ids: VAR_075354
up seq anno feature ids: VAR_075355
up seq anno feature ids: VAR_075356
up seq anno feature ids: VAR_075357
up seq anno feature ids: VAR_075358
up seq anno feature ids: VAR_075359
up seq anno feature ids: VAR_076566
up seq anno feature ids: VAR_082844
up seq anno feature ids: VAR_082845
up seq anno feature ids: VSP_010693
up seq anno feature ids: VSP_010694
up seq anno feature ids: VSP_043162
up seq anno feature ids: VSP_043404

9606:SEC11A
gene id: 9606:SEC11A
uniprot id: A0A024RC78
uniprot id: H0YKT4
uniprot id: P67812
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: Site
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: Sequence Conflict
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: Helical
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: Loss of catalytic activity.
up seq anno comments: Loss of catalytic activity. Slight reduction in protein stability.
up seq anno comments: Lumenal
up seq anno comments: Moderate reduction in catalytic activity. Reduces protein stability.
up seq anno comments: No effect on catalytic activity or protein stability.
up seq anno comments: Peptidase_S24
up seq anno comments: Signal peptidase complex catalytic subunit SEC11A
up seq anno comments: Slight reduction in catalytic activity; when associated with D-97.
up seq anno comments: Slight reduction in catalytic activity; when associated with R-116.
up seq anno feature ids: PRO_0000109543
up seq anno feature ids: VSP_055052
up seq anno feature ids: VSP_055053
up seq anno feature ids: VSP_055054
up seq anno feature ids: VSP_055055

9606:SMIM10L2B
gene id: 9606:SMIM10L2B
uniprot id: P0DMW4
uniprot id: P0DMW5
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:PER1
gene id: 9606:PER1
uniprot id: O15534
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 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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic residues
up seq anno comments: Found in a patient with Moyamoya disease; unknown pathological significance.
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: LXXLL
up seq anno comments: No effect on interaction with BTRC and FBXW11.
up seq anno comments: Nuclear export signal 1
up seq anno comments: Nuclear export signal 2
up seq anno comments: Nuclear export signal 3
up seq anno comments: Nuclear localization signal
up seq anno comments: PAC
up seq anno comments: PAS 1
up seq anno comments: PAS 2
up seq anno comments: Period circadian protein homolog 1
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CSNK1E
up seq anno comments: Phosphothreonine; by CSNK1E
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Strongly decreases interaction with BTRC and FBXW11 and inhibits degradation promoted by CSNK1E.
up seq anno comments: Strongly decreases interaction with BTRC and FBXW11.
up seq anno feature ids: PRO_0000162627
up seq anno feature ids: VAR_036038
up seq anno feature ids: VAR_036039
up seq anno feature ids: VAR_036040
up seq anno feature ids: VAR_047899
up seq anno feature ids: VAR_047900
up seq anno feature ids: VAR_079176
up seq anno feature ids: VSP_056205
up seq anno feature ids: VSP_056206
up seq anno feature ids: VSP_056207

9606:CLEC12A
gene id: 9606:CLEC12A
uniprot id: Q5QGZ9
up 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 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 Variant
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: C-type lectin domain family 12 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: ITIM motif
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: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000313578
up seq anno feature ids: VAR_037669
up seq anno feature ids: VSP_030030
up seq anno feature ids: VSP_030031
up seq anno feature ids: VSP_030032
up seq anno feature ids: VSP_030033
up seq anno feature ids: VSP_039854

9606:LDAF1
gene id: 9606:LDAF1
uniprot id: I3L288
uniprot id: I3NI23
uniprot id: Q96B96
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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: Transmembrane
up seq anno comments: Cytoplasmic
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Lipid droplet assembly factor 1
up seq anno comments: Lumenal
up seq anno feature ids: PRO_0000279535
up seq anno feature ids: VAR_030923
up seq anno feature ids: VAR_030924
up seq anno feature ids: VAR_057765
up seq anno feature ids: VSP_056078

9606:EIF4E2
gene id: 9606:EIF4E2
uniprot id: B8ZZ50
uniprot id: O60573
uniprot id: Q53RG0
uniprot id: Q59FE1
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: Secondary Structure
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: 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: 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: 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: 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:DRC3
gene id: 9606:DRC3
uniprot id: B3KSC6
uniprot id: Q9H069
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Dynein regulatory complex subunit 3
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 feature ids: PRO_0000227774
up seq anno feature ids: VAR_025625
up seq anno feature ids: VAR_051120
up seq anno feature ids: VAR_051121
up seq anno feature ids: VSP_017578
up seq anno feature ids: VSP_017579

9606:STC2
gene id: 9606:STC2
uniprot id: O76061
uniprot id: Q6FHC9
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 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-terminal Residue
up seq anno labels: Signal Peptide
up seq anno comments: Basic and acidic residues
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine; by FAM20C
up seq anno comments: Phosphothreonine; by FAM20C
up seq anno comments: Stanniocalcin-2
up seq anno feature ids: PRO_0000033303
up seq anno feature ids: PRO_5014310441

9606:DPPA3
gene id: 9606:DPPA3
uniprot id: Q6W0C5
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Developmental pluripotency-associated protein 3
up seq anno feature ids: PRO_0000239265
up seq anno feature ids: VAR_030533

9606:COMT
gene id: 9606:COMT
uniprot id: A0A140VJG8
uniprot id: P21964
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: Secondary Structure
up seq anno parent labels: 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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: Catechol O-methyltransferase
up seq anno comments: Correlated with reduced enzyme activity; associated with increased risk for schizophrenia.
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 allele COMT*2; associated with low enzyme activity and thermolability; may increase the tendency to develop high blood pressure and abdominal obesity.
up seq anno comments: In isoform Soluble.
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000020971
up seq anno feature ids: VAR_005139
up seq anno feature ids: VAR_013925
up seq anno feature ids: VAR_013926
up seq anno feature ids: VAR_020274
up seq anno feature ids: VAR_020275
up seq anno feature ids: VSP_018778

9606:PSMD3
gene id: 9606:PSMD3
uniprot id: O43242
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 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: 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: 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:TBC1D10B
gene id: 9606:TBC1D10B
uniprot id: Q4KMP7
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 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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: In isoform 2.
up seq anno comments: Loss of GAP activity.
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: Pro residues
up seq anno comments: Rab-GAP TBC
up seq anno comments: TBC1 domain family member 10B
up seq anno feature ids: PRO_0000315716
up seq anno feature ids: VSP_030670

9606:KLHDC7B
gene id: 9606:KLHDC7B
uniprot id: Q96G42
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: Repeat
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 7B
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000229000

9606:MMP9
gene id: 9606:MMP9
uniprot id: P14780
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: Secondary Structure
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: 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: 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: 67 kDa matrix metalloproteinase-9
up seq anno comments: 82 kDa matrix metalloproteinase-9
up seq anno comments: Activation peptide
up seq anno comments: Basic and acidic residues
up seq anno comments: Cysteine switch
up seq anno comments: Fibronectin type-II 1
up seq anno comments: Fibronectin type-II 2
up seq anno comments: Fibronectin type-II 3
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: Loss of activity.
up seq anno comments: May be associated with susceptibility to IDD.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Pro residues
up seq anno comments: Removed in 64 kDa matrix metalloproteinase-9 and 67 kDa matrix metalloproteinase-9
up seq anno comments: in inhibited form
up seq anno feature ids: PRO_0000028754
up seq anno feature ids: PRO_0000028755
up seq anno feature ids: PRO_0000028756
up seq anno feature ids: PRO_0000028757
up seq anno feature ids: VAR_013780
up seq anno feature ids: VAR_013781
up seq anno feature ids: VAR_013782
up seq anno feature ids: VAR_014742
up seq anno feature ids: VAR_020054
up seq anno feature ids: VAR_024595
up seq anno feature ids: VAR_025165
up seq anno feature ids: VAR_025166
up seq anno feature ids: VAR_037004

9606:PEDS1-UBE2V1
gene id: 9606:PEDS1-UBE2V1
uniprot id: A5PLL7
uniprot id: Q13404
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: Secondary Structure
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: 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: Helical
up seq anno comments: Histidine box-1
up seq anno comments: Histidine box-2
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: Loss of plasmanylethanolamine desaturase activity.
up seq anno comments: N-acetylalanine
up seq anno comments: No effect on desaturase plasmanylethanolamine activity.
up seq anno comments: No effect on plasmanylethanolamine desaturase activity.
up seq anno comments: Plasmanylethanolamine desaturase
up seq anno comments: Removed
up seq anno comments: UBC core
up seq anno comments: Ubiquitin-conjugating enzyme E2 variant 1
up seq anno feature ids: PRO_0000082600
up seq anno feature ids: PRO_0000319993
up seq anno feature ids: VAR_059732
up seq anno feature ids: VSP_038032
up seq anno feature ids: VSP_038033
up seq anno feature ids: VSP_038034
up seq anno feature ids: VSP_038035
up seq anno feature ids: VSP_038036
up seq anno feature ids: VSP_044818
up seq anno feature ids: VSP_054091

9606:OGFOD3
gene id: 9606:OGFOD3
uniprot id: Q6PK18
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: 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: 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: 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: 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:ARHGAP11B
gene id: 9606:ARHGAP11B
uniprot id: Q3KRB8
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: 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:GFM2
gene id: 9606:GFM2
uniprot id: A0A024RAJ7
uniprot id: A0A024RAK1
uniprot id: Q969S9
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: 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 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 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:ABCF3
gene id: 9606:ABCF3
uniprot id: A0A0S2Z5L1
uniprot id: Q9NUQ8
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: 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: 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: 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 3
up seq anno comments: Basic and acidic residues
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: Removed
up seq anno feature ids: PRO_0000248042
up seq anno feature ids: VAR_027247
up seq anno feature ids: VAR_027248
up seq anno feature ids: VSP_020142

9606:ZNF785
gene id: 9606:ZNF785
uniprot id: A0A024QZC7
uniprot id: A8K8V0
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: 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 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: In isoform 2.
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 785
up seq anno feature ids: PRO_0000345630
up seq anno feature ids: VAR_076389
up seq anno feature ids: VAR_076390
up seq anno feature ids: VSP_034965

9606:VASH2
gene id: 9606:VASH2
uniprot id: A0A140VJZ5
uniprot id: A8K4K8
uniprot id: Q86V25
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: Secondary Structure
up seq anno parent labels: Site
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: Mutagenesis Site
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolished tyrosine carboxypeptidase activity. No effect on binding to microtubule.
up seq anno comments: Disrupted interaction with SVBP. Reduced tyrosine carboxypeptidase 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: In isoform 6.
up seq anno comments: No effect on tyrosine carboxypeptidase activity.
up seq anno comments: Phosphoserine
up seq anno comments: Reduced tyrosine carboxypeptidase activity.
up seq anno comments: Slightly reduced tyrosine carboxypeptidase activity.
up seq anno comments: Strongly reduced tyrosine carboxypeptidase activity.
up seq anno comments: Tubulinyl-Tyr carboxypeptidase 2
up seq anno feature ids: PRO_0000189982
up seq anno feature ids: VSP_013328
up seq anno feature ids: VSP_013329
up seq anno feature ids: VSP_013330
up seq anno feature ids: VSP_013331
up seq anno feature ids: VSP_013332
up seq anno feature ids: VSP_013333
up seq anno feature ids: VSP_013334
up seq anno feature ids: VSP_054104

9606:PDZK1
gene id: 9606:PDZK1
uniprot id: Q5T2W1
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: Secondary Structure
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: 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: In isoform 2.
up seq anno comments: Na(+)/H(+) exchange regulatory cofactor NHE-RF3
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: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000058287
up seq anno feature ids: VSP_044637

9606:TSPOAP1
gene id: 9606:TSPOAP1
uniprot id: A7E2C5
uniprot id: B2RUT8
uniprot id: B7ZVZ7
uniprot id: O95153
uniprot id: X5DQQ3
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 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: 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: 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: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Peripheral-type benzodiazepine receptor-associated protein 1
up seq anno comments: Polar residues
up seq anno comments: Pro 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 feature ids: PRO_0000221380
up seq anno feature ids: VAR_017446
up seq anno feature ids: VAR_017447
up seq anno feature ids: VAR_017448
up seq anno feature ids: VAR_017449
up seq anno feature ids: VAR_017450
up seq anno feature ids: VAR_017451
up seq anno feature ids: VAR_031662
up seq anno feature ids: VAR_031663
up seq anno feature ids: VAR_031664
up seq anno feature ids: VAR_070193
up seq anno feature ids: VSP_009204
up seq anno feature ids: VSP_009205

9606:NUDCD1
gene id: 9606:NUDCD1
uniprot id: Q96RS6
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 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: CS
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: NudC domain-containing protein 1
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000307704
up seq anno feature ids: VAR_036632
up seq anno feature ids: VAR_036633
up seq anno feature ids: VAR_036634
up seq anno feature ids: VAR_036635
up seq anno feature ids: VSP_052557
up seq anno feature ids: VSP_052558
up seq anno feature ids: VSP_052559
up seq anno feature ids: VSP_052560

9606:HSPBP1
gene id: 9606:HSPBP1
uniprot id: Q9NZL4
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: Secondary Structure
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: 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: ARM 1
up seq anno comments: ARM 2
up seq anno comments: ARM 3
up seq anno comments: ARM 4
up seq anno comments: Hsp70-binding protein 1
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 feature ids: PRO_0000084035
up seq anno feature ids: VAR_023645
up seq anno feature ids: VAR_080621
up seq anno feature ids: VSP_015945
up seq anno feature ids: VSP_053681
up seq anno feature ids: VSP_053682

9606:DCAF8
gene id: 9606:DCAF8
uniprot id: B7Z8C9
uniprot id: Q5TAQ9
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: Secondary Structure
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: 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: Abrogates cytoplasmic localization.
up seq anno comments: Abrogates nuclear localization.
up seq anno comments: Basic and acidic residues
up seq anno comments: DDB1- and CUL4-associated factor 8
up seq anno comments: In GAN2; interaction with DDB1 is decreased.
up seq anno comments: In isoform 2.
up seq anno comments: Nuclear export signal
up seq anno comments: Nuclear localization signal
up seq anno comments: Omega-N-methylarginine; by PRMT1
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Reduces association with DDB1.
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_0000296957
up seq anno feature ids: VAR_071265
up seq anno feature ids: VSP_027264
up seq anno feature ids: VSP_027265

9606:LSMEM2
gene id: 9606:LSMEM2
uniprot id: Q8N112
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: Leucine-rich single-pass membrane protein 2
up seq anno feature ids: PRO_0000242663

9606:SPINT2
gene id: 9606:SPINT2
uniprot id: A0A140VJV6
uniprot id: O43291
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: Secondary Structure
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: 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: BPTI/Kunitz inhibitor
up seq anno comments: BPTI/Kunitz inhibitor 1
up seq anno comments: BPTI/Kunitz inhibitor 2
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: In DIAR3; has a significantly reduced ability to inhibit trypsin compared to wild-type.
up seq anno comments: In isoform 2.
up seq anno comments: Kunitz-type protease inhibitor 2
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000016885
up seq anno feature ids: PRO_5007491743
up seq anno feature ids: VAR_012482
up seq anno feature ids: VAR_058718
up seq anno feature ids: VSP_043680

9606:CASP3
gene id: 9606:CASP3
uniprot id: P42574
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: Secondary Structure
up seq anno parent labels: Site
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: Mutagenesis Site
up seq anno labels: Propeptide
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: (Microbial infection) ADP-riboxanated arginine
up seq anno comments: Abolished ADP-riboxanation by C.violaceum CopC.
up seq anno comments: Caspase-3 subunit p12
up seq anno comments: Caspase-3 subunit p17
up seq anno comments: In P3-D3A mutant; abolished cleavage and activation, leading to prevent thiol protease activity; when associated with A-28 and A-175.
up seq anno comments: In P3-D3A mutant; abolished cleavage and activation, leading to prevent thiol protease activity; when associated with A-9 and A-175.
up seq anno comments: In P3-D3A mutant; abolished cleavage and activation, leading to prevent thiol protease activity; when associated with A-9 and A-28.
up seq anno comments: N-acetylmethionine
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: S-nitrosocysteine; in inhibited form
up seq anno feature ids: PRO_0000004569
up seq anno feature ids: PRO_0000004570
up seq anno feature ids: PRO_0000004571
up seq anno feature ids: PRO_0000004572
up seq anno feature ids: VAR_001401
up seq anno feature ids: VAR_048616

9606:MSRB2
gene id: 9606:MSRB2
uniprot id: Q9Y3D2
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: 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 labels: Sequence Variant
up seq anno labels: Transit Peptide
up seq anno comments: Methionine-R-sulfoxide reductase B2, mitochondrial
up seq anno comments: Mitochondrion
up seq anno comments: MsrB
up seq anno comments: Nucleophile
up seq anno feature ids: PRO_0000140324
up seq anno feature ids: VAR_050448

9606:IFT80
gene id: 9606:IFT80
uniprot id: Q9P2H3
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 labels: Chain
up seq anno labels: Compositionally Biased 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: In SRTD2.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform IFT80-L.
up seq anno comments: Intraflagellar transport protein 80 homolog
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 feature ids: PRO_0000051042
up seq anno feature ids: VAR_035006
up seq anno feature ids: VAR_035007
up seq anno feature ids: VAR_035008
up seq anno feature ids: VAR_035009
up seq anno feature ids: VSP_045456
up seq anno feature ids: VSP_057524

9606:GOLGA7B
gene id: 9606:GOLGA7B
uniprot id: Q2TAP0
uniprot id: Q6ZUQ1
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Lipid Binding
up seq anno labels: Sequence Conflict
up seq anno comments: Golgin subfamily A member 7B
up seq anno comments: Polar residues
up seq anno comments: S-palmitoyl cysteine
up seq anno feature ids: PRO_0000244090

9606:SLC7A1
gene id: 9606:SLC7A1
uniprot id: A0A024RDQ9
uniprot id: P30825
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 labels: Chain
up seq anno labels: Domain Extent
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: AA_permease_C
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: High affinity cationic amino acid transporter 1
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000054261

9606:PAXX
gene id: 9606:PAXX
uniprot id: Q9BUH6
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: Secondary Structure
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: Splice Variant
up seq anno labels: Strand
up seq anno comments: Abolished interaction with XRCC5/Ku80 and XRCC6/Ku70.
up seq anno comments: Abolishes the association with the non-homologous end joining complex and localization to double-strand break sites. Abolished interaction with XRCC6/Ku70.
up seq anno comments: Abolishes the association with the non-homologous end joining complex.
up seq anno comments: Abolishes the association with the non-homologous end joining complex. Abolished interaction with XRCC6/Ku70.
up seq anno comments: Does not affect interaction with the DNA-bound XRCC5/Ku80 and XRCC6/Ku70 heterodimer; when associated with 145-D--152.
up seq anno comments: Does not affect interaction with the DNA-bound XRCC5/Ku80 and XRCC6/Ku70 heterodimer; when associated with A-134.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of function in DNA non-homologous end joining (NHEJ).
up seq anno comments: PISA
up seq anno comments: Phospho-mimetic mutant; abolished interaction with DNA-bound the DNA-bound XRCC5/Ku80 and XRCC6/Ku70 heterodimer; when associated with 145-D--152.
up seq anno comments: Phospho-mimetic mutant; abolished interaction with the DNA-bound XRCC5/Ku80 and XRCC6/Ku70 heterodimer; when associated with D-134.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Pro residues
up seq anno comments: Protein PAXX
up seq anno comments: XLM
up seq anno feature ids: PRO_0000286104
up seq anno feature ids: VSP_024996
up seq anno feature ids: VSP_024997

9606:OLFML3
gene id: 9606:OLFML3
uniprot id: B4DNG0
uniprot id: M1LAK4
uniprot id: Q9NRN5
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 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 labels: Splice Variant
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: Olfactomedin-like
up seq anno comments: Olfactomedin-like protein 3
up seq anno feature ids: PRO_0000020092
up seq anno feature ids: PRO_5014306204
up seq anno feature ids: VSP_014128
up seq anno feature ids: VSP_014129
up seq anno feature ids: VSP_014130
up seq anno feature ids: VSP_014131

9606:EMC6
gene id: 9606:EMC6
uniprot id: Q9BV81
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 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: 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: ER membrane protein complex subunit 6
up seq anno comments: Helical
up seq anno comments: Lumenal
up seq anno comments: N-acetylalanine
up seq anno comments: No effect on EMC assembly but decreased membrane insertion of hydrophobic transmembrane helices-containing proteins by the EMC.
up seq anno comments: Removed
up seq anno feature ids: PRO_0000254156

9606:ATP5IF1
gene id: 9606:ATP5IF1
uniprot id: Q9UII2
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 labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Transit Peptide
up seq anno comments: ATPase inhibitor, mitochondrial
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Mitochondrion
up seq anno comments: N6-succinyllysine
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000002547
up seq anno feature ids: VSP_041417
up seq anno feature ids: VSP_041418

9606:MGAT4A
gene id: 9606:MGAT4A
uniprot id: Q9UM21
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 labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Glycosylation Site
up seq anno labels: Modified Residue
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: 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:ENPEP
gene id: 9606:ENPEP
uniprot id: Q07075
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: Secondary Structure
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: 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: Extracellular
up seq anno comments: Glutamyl aminopeptidase
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: N-linked (GlcNAc...) asparagine
up seq anno comments: N-linked (GlcNAc...) asparagine; atypical
up seq anno comments: Polar residues
up seq anno comments: Proton acceptor
up seq anno comments: Reduced enzyme activity.
up seq anno feature ids: PRO_0000095095
up seq anno feature ids: VAR_030359
up seq anno feature ids: VAR_030360
up seq anno feature ids: VAR_036047
up seq anno feature ids: VAR_057056
up seq anno feature ids: VAR_057057

9606:RALGPS1
gene id: 9606:RALGPS1
uniprot id: Q5JS13
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 labels: Chain
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: 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 and isoform 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: In isoform 5.
up seq anno comments: In isoform 6.
up seq anno comments: Loss of activity.
up seq anno comments: PH
up seq anno comments: PXXP
up seq anno comments: Polar residues
up seq anno comments: Ras-GEF
up seq anno comments: Ras-specific guanine nucleotide-releasing factor RalGPS1
up seq anno feature ids: PRO_0000333192
up seq anno feature ids: VAR_061785
up seq anno feature ids: VSP_033471
up seq anno feature ids: VSP_033472
up seq anno feature ids: VSP_033473
up seq anno feature ids: VSP_033474
up seq anno feature ids: VSP_033475
up seq anno feature ids: VSP_033476
up seq anno feature ids: VSP_033477
up seq anno feature ids: VSP_033478
up seq anno feature ids: VSP_033479
up seq anno feature ids: VSP_033480
up seq anno feature ids: VSP_033481

9606:OSGIN1
gene id: 9606:OSGIN1
uniprot id: Q9UJX0
up seq anno parent labels: Modification
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno comments: Oxidative stress-induced growth inhibitor 1
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000165371
up seq anno feature ids: VAR_056575

9606:PRR5
gene id: 9606:PRR5
uniprot id: A0A024R4U5
uniprot id: A8K699
uniprot id: P85299
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: 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: Polar residues
up seq anno comments: Proline-rich protein 5
up seq anno feature ids: PRO_0000308162
up seq anno feature ids: VAR_062230
up seq anno feature ids: VSP_001646
up seq anno feature ids: VSP_001648
up seq anno feature ids: VSP_028884
up seq anno feature ids: VSP_028885
up seq anno feature ids: VSP_045883

9606:DDX27
gene id: 9606:DDX27
uniprot id: B7Z6D5
uniprot id: Q96GQ7
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: 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: Motif
up seq anno labels: Mutagenesis Site
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: DEAD box
up seq anno comments: Helicase ATP-binding
up seq anno comments: Helicase C-terminal
up seq anno comments: No interaction with PEBOW complex.
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno comments: Probable ATP-dependent RNA helicase DDX27
up seq anno comments: Q motif
up seq anno comments: Q_MOTIF
up seq anno comments: Required for interaction with the PEBOW complex
up seq anno feature ids: PRO_0000055031
up seq anno feature ids: VAR_022849

9606:CFAP206
gene id: 9606:CFAP206
uniprot id: Q8IYR0
uniprot id: Q8N771
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 labels: Chain
up seq anno labels: Compositionally Biased 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: Polar residues
up seq anno feature ids: PRO_0000089553
up seq anno feature ids: VAR_033679
up seq anno feature ids: VAR_033680

9606:MGRN1
gene id: 9606:MGRN1
uniprot id: O60291
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 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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Zinc Finger
up seq anno comments: E3 ubiquitin-protein ligase MGRN1
up seq anno comments: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3 and isoform 4.
up seq anno comments: Loss of TSG101-binding and drastic reduction of TSG101-ubiquitination.
up seq anno comments: N-myristoyl glycine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: RING-type
up seq anno comments: Removed
up seq anno comments: Required for TSG101-binding
up seq anno feature ids: PRO_0000246687
up seq anno feature ids: VSP_019853
up seq anno feature ids: VSP_036462

9606:H3-4
gene id: 9606:H3-4
uniprot id: Q16695
up seq anno parent labels: Modification
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 labels: Strand
up seq anno labels: Turn
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: Histone H3.1t
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-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: Phosphotyrosine
up seq anno comments: Removed
up seq anno comments: Symmetric dimethylarginine; by PRMT5; alternate
up seq anno feature ids: PRO_0000221248

9606:TCP11
gene id: 9606:TCP11
uniprot id: Q8WWU5
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 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 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 5.
up seq anno comments: In isoform 6.
up seq anno comments: T-complex protein 11 homolog
up seq anno feature ids: PRO_0000324298
up seq anno feature ids: VAR_039692
up seq anno feature ids: VAR_039693
up seq anno feature ids: VSP_032185
up seq anno feature ids: VSP_032186
up seq anno feature ids: VSP_045217
up seq anno feature ids: VSP_047124
up seq anno feature ids: VSP_047125
up seq anno feature ids: VSP_047126

9606:ANKRD35
gene id: 9606:ANKRD35
uniprot id: B4DFX6
uniprot id: F6XZD3
uniprot id: Q8N283
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 labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased 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: 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: VSP_056916
up seq anno feature ids: VSP_056917

9606:CDCP1
gene id: 9606:CDCP1
uniprot id: Q9H5V8
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 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: 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: CUB
up seq anno comments: CUB domain-containing protein 1
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: Impaired association with SRC.
up seq anno comments: Impaired association with protein kinase PRKCG but not with SRC.
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: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000226249
up seq anno feature ids: VAR_025498
up seq anno feature ids: VAR_025499
up seq anno feature ids: VAR_055095
up seq anno feature ids: VSP_017432
up seq anno feature ids: VSP_017433
up seq anno feature ids: VSP_017434

9606:ZNF648
gene id: 9606:ZNF648
uniprot id: Q5T619
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased 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: Polar residues
up seq anno comments: Zinc finger protein 648
up seq anno feature ids: PRO_0000252162
up seq anno feature ids: VAR_033585
up seq anno feature ids: VAR_052887

9606:URAD
gene id: 9606:URAD
uniprot id: A6NGE7
up 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 labels: Active Site
up seq anno labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Motif
up seq anno labels: Sequence Variant
up seq anno comments: Microbody targeting signal
up seq anno comments: Proton donor
up seq anno comments: Putative 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase
up seq anno feature ids: PRO_0000315240
up seq anno feature ids: VAR_053987

9606:AHCYL2
gene id: 9606:AHCYL2
uniprot id: Q96HN2
up 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: 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: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Adenosylhomocysteinase 3
up seq anno comments: Basic and acidic residues
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-acetylserine
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 feature ids: PRO_0000116909
up seq anno feature ids: VSP_040095
up seq anno feature ids: VSP_043185
up seq anno feature ids: VSP_043186
up seq anno feature ids: VSP_046278
up seq anno feature ids: VSP_046279

9606:RPL18
gene id: 9606:RPL18
uniprot id: A0A024QZD1
uniprot id: Q07020
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: 60S ribosomal protein L18
up seq anno comments: Basic residues
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: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Removed
up seq anno comments: Ribosomal_L18e/L15P
up seq anno feature ids: PRO_0000132769
up seq anno feature ids: VAR_081935
up seq anno feature ids: VSP_055170

9606:APBB3
gene id: 9606:APBB3
uniprot id: O95704
uniprot id: Q59EH2
uniprot id: Q96DX9
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 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:NPC1
gene id: 9606:NPC1
uniprot id: O15118
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: Secondary Structure
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: Helix
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: Abolishes cholesterol and 25-hydroxycholesterol binding. Abolishes cholesterol transfer from NPC2 to NPC1.
up seq anno comments: Abolishes cholesterol transport. No effect on subcellular location.
up seq anno comments: Cytoplasmic
up seq anno comments: Decreased affinity for NPC2 and decreased cholesterol transfer from NPC2 to NPC1; when associated with A-88 and A-92.
up seq anno comments: Decreased affinity for NPC2 and decreased cholesterol transfer from NPC2 to NPC1; when associated with A-88 and A-96.
up seq anno comments: Decreased affinity for NPC2 and decreased cholesterol transfer from NPC2 to NPC1; when associated with A-92 and A-96.
up seq anno comments: Decreased cholesterol transport.
up seq anno comments: Decreases affinity for NPC2. Abolishes cholesterol transfer from NPC2 to NPC1.
up seq anno comments: Di-leucine motif
up seq anno comments: Helical
up seq anno comments: In NPC1.
up seq anno comments: In NPC1; adult form.
up seq anno comments: In NPC1; decreased affinity for NPC2; decreased cholesterol transfer from NPC2 to NPC1.
up seq anno comments: In NPC1; found in the Nova Scotian clinical variant.
up seq anno comments: In NPC1; juvenile form.
up seq anno comments: In NPC1; late infantile form.
up seq anno comments: In NPC1; late infantile form; Common in Japanese.
up seq anno comments: In NPC1; partially mislocalized from late endocytic organelles diffusely to the cell periphery; localizes to the endoplasmic reticulum Rab7-negative endosomes and the cell surface; does not clears the lysosomal cholesterol accumulation in NPC1-deficient cells.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of function.
up seq anno comments: Loss of interaction with ebolavirus glycoprotein.
up seq anno comments: Loss of location in lysosomes.
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: NPC intracellular cholesterol transporter 1
up seq anno comments: Nearly abolishes 25-hydroxycholesterol binding. Reduces cholesterol binding.
up seq anno comments: Nearly abolishes cholesterol and 25-hydroxycholesterol binding.
up seq anno comments: No effect on cholesterol and 25-hydroxycholesterol binding and transfer.
up seq anno comments: No effect on cholesterol or 25-hydroxycholesterol binding. Decreases affinity for NPC2. Strongly reduces cholesterol transfer to liposomes in a NPC2-dependent manner.
up seq anno comments: No effect on cholesterol or 25-hydroxycholesterol binding. Nearly abolishes cholesterol transfer to liposomes in a NPC2-dependent manner.
up seq anno comments: No effect on function; colocalizes with the wild-type protein with Rab7-positive late endosomes; clears the lysosomal cholesterol accumulation in NPC1-deficient cells.
up seq anno comments: Reduces glycosylation; when associated with Q-122 and Q-185. No effect on cholesterol and 25-hydroxycholesterol binding.
up seq anno comments: Reduces glycosylation; when associated with Q-70 and Q-122. No effect on cholesterol and 25-hydroxycholesterol binding. Strongly reduces cholesterol transfer to liposomes in a NPC2-dependent manner.
up seq anno comments: Reduces glycosylation; when associated with Q-70 and Q-185. No effect on cholesterol and 25-hydroxycholesterol binding.
up seq anno comments: SSD
up seq anno comments: Strongly reduces 25-hydroxycholesterol binding and cholesterol transfer to liposomes in a NPC2-dependent manner.
up seq anno comments: Strongly reduces 25-hydroxycholesterol binding. No effect on cholesterol binding.
up seq anno comments: Strongly reduces cholesterol and 25-hydroxycholesterol binding.
up seq anno comments: Strongly reduces cholesterol transfer to liposomes in a NPC2-dependent manner.
up seq anno comments: Strongly reduces interaction with ebolavirus glycoprotein.
up seq anno feature ids: PRO_0000023261
up seq anno feature ids: VAR_008815
up seq anno feature ids: VAR_008816
up seq anno feature ids: VAR_008817
up seq anno feature ids: VAR_008818
up seq anno feature ids: VAR_008819
up seq anno feature ids: VAR_008820
up seq anno feature ids: VAR_008821
up seq anno feature ids: VAR_008822
up seq anno feature ids: VAR_008823
up seq anno feature ids: VAR_008824
up seq anno feature ids: VAR_008825
up seq anno feature ids: VAR_008826
up seq anno feature ids: VAR_008827
up seq anno feature ids: VAR_008828

9606:COA7
gene id: 9606:COA7
uniprot id: Q96BR5
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: 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 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: Cytochrome c oxidase assembly factor 7
up seq anno comments: In SCAN3.
up seq anno comments: In SCAN3; results in increased proteasomal degradation; decreased protein levels; decreased amount of protein imported in the mitochondrion intermembrane space.
up seq anno comments: In SCAN3; unknown pathological significance.
up seq anno comments: N-acetylalanine
up seq anno comments: Removed
up seq anno comments: Sel1-like 1
up seq anno comments: Sel1-like 2
up seq anno comments: Sel1-like 3
up seq anno comments: Sel1-like 4
up seq anno comments: Sel1-like 5
up seq anno feature ids: PRO_0000282364
up seq anno feature ids: VAR_031401
up seq anno feature ids: VAR_082218
up seq anno feature ids: VAR_082219
up seq anno feature ids: VAR_082220
up seq anno feature ids: VAR_082221

9606:TNFSF13B
gene id: 9606:TNFSF13B
uniprot id: A0A0U5J7Q1
uniprot id: Q9Y275
up 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 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: 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: 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: In isoform 3.
up seq anno comments: N-linked (GlcNAc...) (high mannose) asparagine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Polar residues
up seq anno comments: TNF_2
up seq anno comments: Tumor necrosis factor ligand superfamily member 13b, membrane form
up seq anno comments: Tumor necrosis factor ligand superfamily member 13b, soluble form
up seq anno feature ids: PRO_0000034528
up seq anno feature ids: PRO_0000034529
up seq anno feature ids: VAR_013483
up seq anno feature ids: VSP_041183
up seq anno feature ids: VSP_047591
up seq anno feature ids: VSP_047592

9606:PGM1
gene id: 9606:PGM1
uniprot id: B4DDQ8
uniprot id: B7Z6C2
uniprot id: P36871
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: Secondary Structure
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: 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 CDG1T; decreases mildly solubility.
up seq anno comments: In CDG1T; decreases strongly solubility.
up seq anno comments: In CDG1T; reduces mildly phosphoglucomutase activity.
up seq anno comments: In CDG1T; reduces solubility; increases aggregation.
up seq anno comments: In CDG1T; reduces solubility; reduces strongly phosphoglucomutase activity.
up seq anno comments: In CDG1T; reduces strongly phosphoglucomutase activity.
up seq anno comments: In CDG1T; reduces strongly solubility; increases aggregation.
up seq anno comments: In CDG1T; there is 7% enzyme residual phosphoglucomutase activity.
up seq anno comments: In allele PGM1*1-, allele PGM1*2-, allele PGM1*3- and allele PGM1*7-; phosphoglucomutase activity is similar to wild-type.
up seq anno comments: In allele PGM1*2+, allele PGM1*2-, allele PGM1*3+ and allele PGM1*3-; phosphoglucomutase activity is similar to wild-type.
up seq anno comments: In allele PGM1*7+, allele PGM1*7-, allele PGM1*3+ and allele PGM1*3-; phosphoglucomutase activity is similar to wild-type.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: N-acetylmethionine
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-succinyllysine
up seq anno comments: PGM_PMM_I
up seq anno comments: PGM_PMM_II
up seq anno comments: PGM_PMM_III
up seq anno comments: Phosphoglucomutase-1
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine intermediate
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by PAK1
up seq anno comments: Phosphotyrosine
up seq anno comments: via phosphate groupe
up seq anno feature ids: PRO_0000147776
up seq anno feature ids: VAR_006090
up seq anno feature ids: VAR_006091
up seq anno feature ids: VAR_006092
up seq anno feature ids: VAR_034380
up seq anno feature ids: VAR_050496
up seq anno feature ids: VAR_062280
up seq anno feature ids: VAR_069219
up seq anno feature ids: VAR_071635
up seq anno feature ids: VAR_071636
up seq anno feature ids: VAR_071637
up seq anno feature ids: VAR_071638
up seq anno feature ids: VAR_071639
up seq anno feature ids: VAR_071640
up seq anno feature ids: VAR_071641
up seq anno feature ids: VAR_071642
up seq anno feature ids: VAR_071643
up seq anno feature ids: VAR_071644
up seq anno feature ids: VAR_071645
up seq anno feature ids: VSP_004686
up seq anno feature ids: VSP_045204

9606:ZNF560
gene id: 9606:ZNF560
uniprot id: Q96MR9
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 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; degenerate
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: In a colorectal cancer sample; somatic mutation.
up seq anno comments: KRAB 1
up seq anno comments: KRAB 2
up seq anno comments: Zinc finger protein 560
up seq anno feature ids: PRO_0000234589
up seq anno feature ids: VAR_035588
up seq anno feature ids: VAR_052866

9606:P4HTM
gene id: 9606:P4HTM
uniprot id: Q9NXG6
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: Secondary Structure
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: Glycosylation Site
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: Topological Domain
up seq anno labels: Transmembrane
up seq anno labels: Turn
up seq anno comments: Cytoplasmic
up seq anno comments: EF-hand 1
up seq anno comments: EF-hand 2
up seq anno comments: Fe2OG dioxygenase
up seq anno comments: Helical; Signal-anchor for type II membrane protein
up seq anno comments: In HIDEA.
up seq anno comments: In HIDEA; 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: N-linked (GlcNAc...) asparagine
up seq anno comments: Transmembrane prolyl 4-hydroxylase
up seq anno feature ids: PRO_0000206668
up seq anno feature ids: VAR_082950
up seq anno feature ids: VAR_082951
up seq anno feature ids: VSP_007573
up seq anno feature ids: VSP_007574

9606:DLL4
gene id: 9606:DLL4
uniprot id: Q9NR61
up 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 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: 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: 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:HOXA2
gene id: 9606:HOXA2
uniprot id: O43364
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Motif
up seq anno labels: Sequence Variant
up seq anno comments: Antp-type hexapeptide
up seq anno comments: Basic and acidic residues
up seq anno comments: Homeobox
up seq anno comments: Homeobox protein Hox-A2
up seq anno comments: In MHICP.
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000200036
up seq anno feature ids: VAR_048023

9606:CEP97
gene id: 9606:CEP97
uniprot id: B4DGU8
uniprot id: E9PG22
uniprot id: Q8IW35
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 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: 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: Centrosomal protein of 97 kDa
up seq anno comments: IQ
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: LRRCT
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000263705
up seq anno feature ids: VSP_031155

9606:POLR2H
gene id: 9606:POLR2H
uniprot id: P52434
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: 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 labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: DNA-directed RNA polymerases I, II, and III subunit RPABC3
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 4.
up seq anno comments: N-acetylalanine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000073997
up seq anno feature ids: VSP_055017
up seq anno feature ids: VSP_055018
up seq anno feature ids: VSP_055019

9606:KIAA0513
gene id: 9606:KIAA0513
uniprot id: O60268
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
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: Uncharacterized protein KIAA0513
up seq anno feature ids: PRO_0000050757
up seq anno feature ids: VAR_034035
up seq anno feature ids: VSP_011551
up seq anno feature ids: VSP_054680

9606:SYT15
gene id: 9606:SYT15
uniprot id: Q9BQS2
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: C2 1
up seq anno comments: C2 2
up seq anno comments: Cytoplasmic
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: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Polar residues
up seq anno comments: Synaptotagmin-15
up seq anno feature ids: PRO_0000183980
up seq anno feature ids: VSP_008643
up seq anno feature ids: VSP_008644
up seq anno feature ids: VSP_008645
up seq anno feature ids: VSP_008646

9606:DOHH
gene id: 9606:DOHH
uniprot id: Q9BU89
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: 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: Repeat
up seq anno comments: Decreased iron-binding. Loss of iron-binding; when associated with L-86.
up seq anno comments: Deoxyhypusine hydroxylase
up seq anno comments: HEAT-like PBS-type 1
up seq anno comments: HEAT-like PBS-type 2
up seq anno comments: HEAT-like PBS-type 3
up seq anno comments: HEAT-like PBS-type 4
up seq anno comments: HEAT-like PBS-type 5
up seq anno comments: Loss of deoxyhypusine monooxygenase activity. Loss of iron-binding.
up seq anno comments: Loss of deoxyhypusine monooxygenase activity. No effect on iron-binding.
up seq anno comments: Loss of iron-binding.
up seq anno comments: N-acetylmethionine
up seq anno comments: No effect on iron-binding. Loss of iron-binding; when associated with L-237.
up seq anno feature ids: PRO_0000248575

9606:RAB18
gene id: 9606:RAB18
uniprot id: Q9NP72
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: Secondary Structure
up seq anno parent labels: Site
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: 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: Cysteine methyl ester
up seq anno comments: Effector region
up seq anno comments: In WARBM3.
up seq anno comments: In WARBM3; abnormal endoplasmic reticulum structure; in fibroblasts ER spread away from the perinuclear region into the cell periphery and there is a loss of fragmentation of ER tubules.
up seq anno comments: In WARBM3; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of localization to lipid droplets and interaction with ZFYVE1.
up seq anno comments: N-acetylmethionine
up seq anno comments: No loss of localization to lipid droplets and interaction with ZFYVE1.
up seq anno comments: Phosphoserine
up seq anno comments: Ras-related protein Rab-18
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 feature ids: PRO_0000121193
up seq anno feature ids: PRO_0000370761
up seq anno feature ids: VAR_034432
up seq anno feature ids: VAR_051713
up seq anno feature ids: VAR_066495
up seq anno feature ids: VAR_066496
up seq anno feature ids: VAR_086022
up seq anno feature ids: VSP_043912
up seq anno feature ids: VSP_044883

9606:RPL35A
gene id: 9606:RPL35A
uniprot id: P18077
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 labels: Chain
up seq anno labels: Modified Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: 60S ribosomal protein L35a
up seq anno comments: In DBA5.
up seq anno comments: In DBA5; may result in aberrant splicing.
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: N6-succinyllysine; alternate
up seq anno feature ids: PRO_0000192796
up seq anno feature ids: VAR_055446
up seq anno feature ids: VAR_055447

9606:SPAG4
gene id: 9606:SPAG4
uniprot id: A0A7P0Z4G5
uniprot id: Q9NPE6
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: Domain Extent
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: Polar residues
up seq anno comments: SUN
up seq anno comments: Sperm-associated antigen 4 protein
up seq anno feature ids: PRO_0000218916

9606:PIEZO2
gene id: 9606:PIEZO2
uniprot id: Q9H5I5
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 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: 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: Basic residues
up seq anno comments: Helical
up seq anno comments: In DA3.
up seq anno comments: In DA5.
up seq anno comments: In DA5; causes slowing of inactivation of PIEZO2-dependent mechanically activated currents as well as significantly faster recovery from inactivation compared to wild-type.
up seq anno comments: In DA5; recovers faster from inactivation.
up seq anno comments: In DAIPT.
up seq anno comments: In MWKS.
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: Phosphoserine
up seq anno comments: Piezo-type mechanosensitive ion channel component 2
up seq anno feature ids: PRO_0000186818
up seq anno feature ids: VAR_033925
up seq anno feature ids: VAR_070938
up seq anno feature ids: VAR_071039
up seq anno feature ids: VAR_071302
up seq anno feature ids: VAR_071303
up seq anno feature ids: VAR_071304
up seq anno feature ids: VAR_071305
up seq anno feature ids: VAR_071306
up seq anno feature ids: VAR_071817
up seq anno feature ids: VAR_071818
up seq anno feature ids: VAR_077843
up seq anno feature ids: VSP_040471
up seq anno feature ids: VSP_040472
up seq anno feature ids: VSP_040630

9606:OR1K1
gene id: 9606:OR1K1
uniprot id: A0A126GVB9
uniprot id: Q8NGR3
up 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 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_RECEP_F1_2
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 1K1
up seq anno feature ids: PRO_0000150441
up seq anno feature ids: VAR_034168

9606:MBTPS2
gene id: 9606:MBTPS2
uniprot id: O43462
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: 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: Mutagenesis 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: Helical
up seq anno comments: In IFAP1; does not affect subcellular localization; impairs activity.
up seq anno comments: In KFSDX; sterol responsiveness is reduced by half.
up seq anno comments: In OI19; decreased regulated intramembrane proteolysis resulting in reduced transcriptional activation of genes relevant to osteoblast differentiation and bone formation.
up seq anno comments: In OLMSX.
up seq anno comments: Loss of activity.
up seq anno comments: Lumenal
up seq anno comments: Membrane-bound transcription factor site-2 protease
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Partial loss of activity.
up seq anno feature ids: PRO_0000088482
up seq anno feature ids: VAR_063054
up seq anno feature ids: VAR_063055
up seq anno feature ids: VAR_063056
up seq anno feature ids: VAR_063057
up seq anno feature ids: VAR_063058
up seq anno feature ids: VAR_064409
up seq anno feature ids: VAR_071323
up seq anno feature ids: VAR_081103
up seq anno feature ids: VAR_081104

9606:KRT34
gene id: 9606:KRT34
uniprot id: O76011
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 labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: IF rod
up seq anno comments: Keratin, type I cuticular Ha4
up seq anno feature ids: PRO_0000063691
up seq anno feature ids: VAR_056017
up seq anno feature ids: VAR_056018

9606:NALF2
gene id: 9606:NALF2
uniprot id: O75949
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Helical
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: NALCN channel auxiliary factor 2
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000072598
up seq anno feature ids: VAR_043975

9606:IL19
gene id: 9606:IL19
uniprot id: Q9UHD0
up 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 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: Interleukin-19
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000015379
up seq anno feature ids: VAR_013077
up seq anno feature ids: VSP_046253
up seq anno feature ids: VSP_057193

9606:BOLA3
gene id: 9606:BOLA3
uniprot id: Q53S33
uniprot id: Q8N338
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: Secondary Structure
up seq anno labels: Chain
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 labels: Turn
up seq anno comments: BolA-like protein 3
up seq anno comments: In MMDS2.
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000245501
up seq anno feature ids: VAR_076180
up seq anno feature ids: VAR_077910
up seq anno feature ids: VAR_077911
up seq anno feature ids: VSP_045787

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: 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: 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: 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: Basic and acidic residues
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 comments: dNK
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:KATNA1
gene id: 9606:KATNA1
uniprot id: A8K7S5
uniprot id: O75449
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: Secondary Structure
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: 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: AAA
up seq anno comments: Abolishes ATP dependent microtubule severing activity and localization to spindle poles.
up seq anno comments: Abolishes ATP dependent microtubule severing activity and localization to spindle poles; when associated with N-308.
up seq anno comments: Abolishes ATP dependent microtubule severing activity and localization to spindle poles; when associated with N-309.
up seq anno comments: Basic and acidic residues
up seq anno comments: In isoform 2.
up seq anno comments: Katanin p60 ATPase-containing subunit A1
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by DYRK2
up seq anno comments: Phosphothreonine; by DYRK2
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000084594
up seq anno feature ids: VSP_012948
up seq anno feature ids: VSP_012949
up seq anno feature ids: VSP_012950

9606:FKBP11
gene id: 9606:FKBP11
uniprot id: E9PAR0
uniprot id: Q9NYL4
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
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: PPIase FKBP-type
up seq anno comments: Peptidyl-prolyl cis-trans isomerase FKBP11
up seq anno feature ids: PRO_0000025519
up seq anno feature ids: VSP_043037

9606:CBX2
gene id: 9606:CBX2
uniprot id: Q14781
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: Secondary Structure
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: 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: 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: 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:OR10S1
gene id: 9606:OR10S1
uniprot id: Q8NGN2
up 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 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 10S1
up seq anno feature ids: PRO_0000150716
up seq anno feature ids: VAR_054358
up seq anno feature ids: VAR_054359
up seq anno feature ids: VAR_054360

9606:MLPH
gene id: 9606:MLPH
uniprot id: A0A024R4D3
uniprot id: Q9BV36
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 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: 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 RAB27A binding.
up seq anno comments: Basic and acidic residues
up seq anno comments: Decreases RAB27A binding.
up seq anno comments: FYVE-type
up seq anno comments: In GS3; abolishes RAB27A binding.
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: Melanophilin
up seq anno comments: Polar residues
up seq anno comments: RabBD
up seq anno feature ids: PRO_0000190222
up seq anno feature ids: VAR_015690
up seq anno feature ids: VAR_015691
up seq anno feature ids: VAR_015692
up seq anno feature ids: VAR_015693
up seq anno feature ids: VAR_015694
up seq anno feature ids: VAR_015695
up seq anno feature ids: VAR_018724
up seq anno feature ids: VAR_038410
up seq anno feature ids: VAR_061754
up seq anno feature ids: VSP_007554
up seq anno feature ids: VSP_042158
up seq anno feature ids: VSP_042159
up seq anno feature ids: VSP_054367
up seq anno feature ids: VSP_054368
up seq anno feature ids: VSP_055730

9606:CPNE4
gene id: 9606:CPNE4
uniprot id: B7Z370
uniprot id: Q4G168
uniprot id: Q96A23
up 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 labels: Binding Site
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Splice Variant
up seq anno comments: C2
up seq anno comments: C2 1
up seq anno comments: C2 2
up seq anno comments: Copine
up seq anno comments: Copine-4
up seq anno comments: In isoform 2.
up seq anno comments: VWFA
up seq anno feature ids: PRO_0000144841
up seq anno feature ids: VSP_001214

9606:R3HDM2
gene id: 9606:R3HDM2
uniprot id: A0A0U1RRA6
uniprot id: B5MCG9
uniprot id: Q9Y2K5
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: Secondary Structure
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: 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: 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: R3H
up seq anno comments: R3H domain-containing protein 2
up seq anno comments: SUZ
up seq anno feature ids: PRO_0000050787
up seq anno feature ids: VAR_059713
up seq anno feature ids: VSP_026087
up seq anno feature ids: VSP_026088
up seq anno feature ids: VSP_057391
up seq anno feature ids: VSP_057392

9606:ZKSCAN1
gene id: 9606:ZKSCAN1
uniprot id: B3KNP9
uniprot id: B3KRF7
uniprot id: E9PC66
uniprot id: P17029
up 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 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: Sequence 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 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: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
up seq anno comments: KRAB
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: SCAN box
up seq anno comments: Zinc finger protein with KRAB and SCAN domains 1
up seq anno feature ids: PRO_0000047753
up seq anno feature ids: VAR_024839

9606:MTCL1
gene id: 9606:MTCL1
uniprot id: Q9Y4B5
up 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 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: 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: In isoform 2 and isoform 3.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Microtubule cross-linking factor 1
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 feature ids: PRO_0000280113
up seq anno feature ids: VAR_031073
up seq anno feature ids: VAR_031074
up seq anno feature ids: VAR_031075
up seq anno feature ids: VAR_031076
up seq anno feature ids: VAR_055942
up seq anno feature ids: VSP_023549
up seq anno feature ids: VSP_023550
up seq anno feature ids: VSP_023551
up seq anno feature ids: VSP_023552
up seq anno feature ids: VSP_023553
up seq anno feature ids: VSP_023554

9606:SPANXN3
gene id: 9606:SPANXN3
uniprot id: Q5MJ09
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Polar residues
up seq anno comments: Sperm protein associated with the nucleus on the X chromosome N3
up seq anno feature ids: PRO_0000285540
up seq anno feature ids: VAR_032026
up seq anno feature ids: VAR_053684

9606:PIGQ
gene id: 9606:PIGQ
uniprot id: B2RAU6
uniprot id: Q9BRB3
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Initiator Methionine
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 MCAHS4.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q
up seq anno comments: Removed
up seq anno feature ids: PRO_0000215664
up seq anno feature ids: VAR_015596
up seq anno feature ids: VAR_053579
up seq anno feature ids: VAR_053580
up seq anno feature ids: VAR_053581
up seq anno feature ids: VAR_083110
up seq anno feature ids: VAR_083111
up seq anno feature ids: VSP_007279
up seq anno feature ids: VSP_007280
up seq anno feature ids: VSP_007281
up seq anno feature ids: VSP_007282

9606:CRYGB
gene id: 9606:CRYGB
uniprot id: P07316
up 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 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: 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: 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:DNAJC24
gene id: 9606:DNAJC24
uniprot id: Q6P3W2
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: 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 Variant
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: DPH-type MB
up seq anno comments: DnaJ homolog subfamily C member 24
up seq anno comments: In a breast cancer sample; somatic mutation.
up seq anno comments: In isoform 2.
up seq anno comments: J
up seq anno comments: Loss of iron-binding.
up seq anno feature ids: PRO_0000082622
up seq anno feature ids: VAR_036397
up seq anno feature ids: VSP_056274

9606:AP5S1
gene id: 9606:AP5S1
uniprot id: Q9NUS5
up seq anno parent labels: Molecule Processing
up seq anno labels: Chain
up seq anno comments: AP-5 complex subunit sigma-1
up seq anno feature ids: PRO_0000079423

9606:SCN2B
gene id: 9606:SCN2B
uniprot id: O60939
uniprot id: Q5U0K8
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: Secondary Structure
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: 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: Does not bind alpha subunit. Loss of ability to protect alpha subunit from inhibition by the spider protoxin-II.
up seq anno comments: Extracellular
up seq anno comments: Found in a patient with Brugada syndrome; unknown pathological significance; induces a reduction in sodium current density most likely by decreasing SCN5A protein cell surface expression.
up seq anno comments: Helical
up seq anno comments: Ig-like
up seq anno comments: Ig-like C2-type
up seq anno comments: In ATFB14; the mutant results in reduced sodium currents and altered channel gating when coexpressed with SCN5A in a heterologous expression system.
up seq anno comments: Interchain; with alpha subunit
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Sodium channel subunit beta-2
up seq anno feature ids: PRO_0000014931
up seq anno feature ids: PRO_5014310135
up seq anno feature ids: VAR_029131
up seq anno feature ids: VAR_029132
up seq anno feature ids: VAR_070229
up seq anno feature ids: VAR_070230

9606:ARL14
gene id: 9606:ARL14
uniprot id: Q8N4G2
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: 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 Conflict
up seq anno labels: Sequence Variant
up seq anno comments: ADP-ribosylation factor-like protein 14
up seq anno comments: N-myristoyl glycine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000281147
up seq anno feature ids: VAR_055521
up seq anno feature ids: VAR_055522

9606:FCN3
gene id: 9606:FCN3
uniprot id: O75636
uniprot id: Q6UXM4
uniprot id: Q6UY50
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: Secondary Structure
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: Helix
up seq anno labels: Modified Residue
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: Collagen-like
up seq anno comments: Fibrinogen C-terminal
up seq anno comments: Ficolin-3
up seq anno comments: Hydroxyproline
up seq anno comments: In isoform 2.
up seq anno comments: N-linked (GlcNAc...) (complex) asparagine
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000009142
up seq anno feature ids: PRO_5014310683
up seq anno feature ids: VSP_001541

9606:NPSR1
gene id: 9606:NPSR1
uniprot id: A0A090N8Z1
uniprot id: Q6W5P4
up 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 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: G_PROTEIN_RECEP_F1_2
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: 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: Increases cell surface expression and NPS-dependent calcium mobilization; does not affect affinity for NPS..
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Neuropeptide S receptor
up seq anno feature ids: PRO_0000069639
up seq anno feature ids: VAR_023757
up seq anno feature ids: VAR_023758
up seq anno feature ids: VAR_023759
up seq anno feature ids: VAR_025103
up seq anno feature ids: VAR_025104
up seq anno feature ids: VAR_025105
up seq anno feature ids: VAR_025106
up seq anno feature ids: VAR_025107
up seq anno feature ids: VSP_016078
up seq anno feature ids: VSP_016079
up seq anno feature ids: VSP_016080
up seq anno feature ids: VSP_016081
up seq anno feature ids: VSP_016082
up seq anno feature ids: VSP_016083
up seq anno feature ids: VSP_016084
up seq anno feature ids: VSP_016085
up seq anno feature ids: VSP_016086
up seq anno feature ids: VSP_016087
up seq anno feature ids: VSP_016088
up seq anno feature ids: VSP_016089

9606:C17orf98
gene id: 9606:C17orf98
uniprot id: A8MV24
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno comments: Uncharacterized protein C17orf98
up seq anno feature ids: PRO_0000340710
up seq anno feature ids: VAR_044022

9606:SYT11
gene id: 9606:SYT11
uniprot id: Q9BT88
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: 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: Sequence Conflict
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: Cytoplasmic
up seq anno comments: Helical
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Synaptotagmin-11
up seq anno comments: Vesicular
up seq anno feature ids: PRO_0000183969
up seq anno feature ids: VAR_047656
up seq anno feature ids: VAR_047657

9606:IL18
gene id: 9606:IL18
uniprot id: Q14116
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: Secondary Structure
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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes binding of the preformed binary complex of IL18 and IL18R1 to IL18RAP.
up seq anno comments: Impairs binding to IL18R1 and the ability to induce IFNG production.
up seq anno comments: In isoform 2.
up seq anno comments: Interleukin-18
up seq anno comments: Reduces binding of the preformed binary complex of IL18 and IL18R1 to IL18RAP resulting in impaired IFNG production.
up seq anno comments: Reduces binding of the preformed binary complex of IL18 and IL18R1 to IL18RAP.
up seq anno comments: Reduces binding to IL18R1 and the ability to induce IFNG production.
up seq anno feature ids: PRO_0000015343
up seq anno feature ids: PRO_0000015344
up seq anno feature ids: VSP_044934

9606:TOP2A
gene id: 9606:TOP2A
uniprot id: P11388
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: Secondary Structure
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: 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: 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 binding to the antibody MPM2.
up seq anno comments: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: DNA topoisomerase 2-alpha
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: Impairs bending of target DNA. Strongly reduced DNA cleavage.
up seq anno comments: In amsacrine resistant cells.
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 teniposide (VM-26) resistant cells.
up seq anno comments: N-acetylmethionine
up seq anno comments: N6-acetyllysine; alternate
up seq anno comments: Nuclear export signal
up seq anno comments: O-(5'-phospho-DNA)-tyrosine intermediate
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CK1
up seq anno comments: Phosphoserine; by CK2
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by PLK3
up seq anno comments: Polar residues
up seq anno comments: Reduced enzyme activity; abolishes stimulation of ATPase activity upon DNA binding.
up seq anno comments: Strongly reduced DNA cleavage.
up seq anno comments: Strongly reduced enzyme activity; abolishes stimulation of ATPase activity upon DNA binding.
up seq anno comments: Toprim
up seq anno feature ids: PRO_0000145363
up seq anno feature ids: VAR_007532
up seq anno feature ids: VAR_007533
up seq anno feature ids: VAR_029245
up seq anno feature ids: VAR_052594
up seq anno feature ids: VAR_052595
up seq anno feature ids: VSP_006529
up seq anno feature ids: VSP_006530
up seq anno feature ids: VSP_006531

9606:RERG
gene id: 9606:RERG
uniprot id: Q96A58
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: Site
up seq anno labels: Binding Site
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: Turn
up seq anno comments: In isoform 2.
up seq anno comments: Ras-related and estrogen-regulated growth inhibitor
up seq anno feature ids: PRO_0000082723
up seq anno feature ids: VSP_043393

9606:SF3B4
gene id: 9606:SF3B4
uniprot id: B3KUJ0
uniprot id: Q15427
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 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: Strand
up seq anno labels: Turn
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphotyrosine
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: Removed
up seq anno comments: Splicing factor 3B subunit 4
up seq anno feature ids: PRO_0000081955

9606:MTHFD1
gene id: 9606:MTHFD1
uniprot id: P11586
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: Secondary Structure
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: 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: Strand
up seq anno labels: Turn
up seq anno comments: C-1-tetrahydrofolate synthase, cytoplasmic
up seq anno comments: C-1-tetrahydrofolate synthase, cytoplasmic, N-terminally processed
up seq anno comments: Decreased methylenetetrahydrofolate dehydrogenase (NADP+) activity over 90%. Loss of methenyltetrahydrofolate cyclohydrolase activity.
up seq anno comments: In CIMAH.
up seq anno comments: In NTDFS; associated with disease susceptibility.
up seq anno comments: In NTDFS; associated with disease susceptibility; increases risk for congenital heart defects; decreased enzyme stability; no effect on methylenetetrahydrofolate dehydrogenase (NADP+) activity; no effect on formyltetrahydrofolate synthetase activity.
up seq anno comments: Moderate decrease of methylenetetrahydrofolate dehydrogenase (NADP+) activity. Loss of methenyltetrahydrofolate cyclohydrolase activity. Strongly decreased affinity for NADP. Increased affinity for 5,10-methenyltetrahydrofolate.
up seq anno comments: N-acetylmethionine
up seq anno comments: No effect on methylenetetrahydrofolate dehydrogenase (NADP+) activity. No effect on methenyltetrahydrofolate cyclohydrolase activity. Decreased affinity for NADP.
up seq anno comments: Phosphoserine
up seq anno comments: Reduced methylenetetrahydrofolate dehydrogenase (NADP+) activity by 50%. Reduced methenyltetrahydrofolate cyclohydrolase activity by 87%.
up seq anno comments: Reduced methylenetetrahydrofolate dehydrogenase (NADP+) activity by 75%. Reduced methenyltetrahydrofolate cyclohydrolase activity by 99%. No effect on affinity for NADP and 5,10-methenyltetrahydrofolate.
up seq anno comments: Reduced methylenetetrahydrofolate dehydrogenase (NADP+) activity by 99%. Reduced methenyltetrahydrofolate cyclohydrolase activity by 70%. No effect on affinity for NADP and 5,10-methenyltetrahydrofolate.
up seq anno comments: Reduced methylenetetrahydrofolate dehydrogenase (NADP+) activity. Reduced methenyltetrahydrofolate cyclohydrolase activity by 99%. No effect on affinity for NADP and 5,10-methenyltetrahydrofolate.
up seq anno comments: Removed; alternate
up seq anno comments: Slightly reduced methylenetetrahydrofolate dehydrogenase (NADP+) activity. Slightly reduced methenyltetrahydrofolate cyclohydrolase activity. Decreased affinity for NADP and for 5,10-methenyltetrahydrofolate.
up seq anno feature ids: PRO_0000199321
up seq anno feature ids: PRO_0000423280
up seq anno feature ids: VAR_010241
up seq anno feature ids: VAR_010251
up seq anno feature ids: VAR_016232
up seq anno feature ids: VAR_032789
up seq anno feature ids: VAR_032790
up seq anno feature ids: VAR_055458
up seq anno feature ids: VAR_074075
up seq anno feature ids: VAR_074076
up seq anno feature ids: VAR_074077
up seq anno feature ids: VAR_080873
up seq anno feature ids: VAR_080874

9606:CT45A8
gene id: 9606:CT45A8
uniprot id: P0DMV1
uniprot id: P0DMV2
uniprot id: Q5DJT8
up seq anno parent labels: Experimental Information
up seq anno parent labels: Molecule Processing
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:TRMT2B
gene id: 9606:TRMT2B
uniprot id: A0A024RCF5
uniprot id: Q96GJ1
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: Site
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 labels: Transit Peptide
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Mitochondrion
up seq anno comments: Nucleophile
up seq anno comments: Proton acceptor
up seq anno comments: tRNA (uracil-5-)-methyltransferase homolog B
up seq anno feature ids: PRO_0000311932
up seq anno feature ids: VAR_037355
up seq anno feature ids: VSP_029643
up seq anno feature ids: VSP_029644

9606:WWP1
gene id: 9606:WWP1
uniprot id: Q9H0M0
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: 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: 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: Abolishes ubiquitin transfer; when associated with A-848.
up seq anno comments: Abolishes ubiquitin transfer; when associated with A-855.
up seq anno comments: C2
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 6.
up seq anno comments: NEDD4-like E3 ubiquitin-protein ligase WWP1
up seq anno comments: No effect.
up seq anno comments: Polar residues
up seq anno comments: Reduces ubiquitin transfer.
up seq anno comments: Reduces ubiquitin transfer. Strongly reduces ubiquitin transfer; when associated with A-845.
up seq anno comments: Strongly reduces ubiquitin transfer.
up seq anno comments: Strongly reduces ubiquitin transfer; when associated with P-804.
up seq anno comments: Strongly reduces ubiquitin transfer; when associated with P-806.
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_0000120336
up seq anno feature ids: VSP_007600
up seq anno feature ids: VSP_007601
up seq anno feature ids: VSP_007602
up seq anno feature ids: VSP_007603

9606:APEX1
gene id: 9606:APEX1
uniprot id: P27695
uniprot id: Q5TZP7
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: Secondary Structure
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: 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes AP endodeoxyribonuclease activity.
up seq anno comments: Abolishes AP endodeoxyribonuclease activity. Lacks MYC CRD RNA cleavage activity.
up seq anno comments: Abolishes partially the redox activity.
up seq anno comments: Abolishes the AP endodeoxyribonuclease activity.
up seq anno comments: Abolishes the AP endodeoxyribonuclease activity. Reduces protection from granzyme A-mediated cell death; when associated with A-31 and A-65.
up seq anno comments: Abolishes the redox activity. Does not abolish the AP endodeoxyribonuclease and phosphodiesterase activities. Reduces protection from granzyme A-mediated cell death; when associated with A-31 and A-210.
up seq anno comments: Alternate
up seq anno comments: Basic and acidic residues
up seq anno comments: DNA-(apurinic or apyrimidinic site) endonuclease
up seq anno comments: DNA-(apurinic or apyrimidinic site) endonuclease, mitochondrial
up seq anno comments: Decreases AP endodeoxyribonuclease activity.
up seq anno comments: Does not abolish NO-induced nitrosylation. Abolishes NO-induced nitrosylation and translocation from the nucleus to the cytoplasm; when associated with S-310.
up seq anno comments: Does not abolish NO-induced nitrosylation. Abolishes NO-induced nitrosylation and translocation from the nucleus to the cytoplasm; when associated with S-93.
up seq anno comments: Does not abolish NO-induced nitrosylation. Enhances NO-induced nuclear export.
up seq anno comments: Does not abolish the redox activity.
up seq anno comments: Endo/exonuclease/phosphatase
up seq anno comments: Enhances the interaction with TOMM20. Does not inhibit redox and AP endodeoyribonuclease activities. Inhibits rRNA binding, interaction with NPM1, nuclear localization and modulates its endodeoxyribonuclease activity; when associated with A-24; A-25; A-27 and A-32. Reduces protection from granzyme A-mediated cell death; when associated with A-65 and A-210.
up seq anno comments: Enhances the interaction with TOMM20. Inhibits rRNA binding, interaction with NPM1, nuclear localization and modulates its endodeoxyribonuclease activity; when associated with A-24; A-27; A-31 and A-32. Inhibits ubiquitination; when associated with K-24 and K-27.
up seq anno comments: Enhances the interaction with TOMM20. Inhibits rRNA binding, interaction with NPM1, nuclear localization and modulates its endodeoxyribonuclease activity; when associated with A-25; A-27; A-31 and A-32. Inhibits ubiquitination; when associated with K-25 and K-27.
up seq anno comments: Enhances the interaction with TOMM20. Inhibits rRNA binding, interaction with NPM1, nuclear localization and modulates its endodeoyribonuclease activity; when associated with A-24; A-25; A-31 and A-32. Inhibits ubiquitination; when associated with K-24 and K-25.
up seq anno comments: Inhibits rRNA binding, interaction with NPM1, nuclear localization and modulates its endodeoxyribonuclease activity; when associated with A-24; A-25; A-27 and A-31.
up seq anno comments: Lack of acetylation and does not stimulate the YBX1-mediated MDR1 promoter activity and alter nuclear subcellular localization; when associated with R-6.
up seq anno comments: Lack of acetylation, does not stimulate the YBX1-mediated MDR1 promoter activity and alter nuclear subcellular localization; when associated with R-7. Does not inhibit interaction with HDAC1, HDAC2 and HDAC3. Absence of increase in nCaRE binding activity.
up seq anno comments: Lacks MYC CRD RNA cleavage activity.
up seq anno comments: N6-acetyllysine
up seq anno comments: N6-acetyllysine; by EP300
up seq anno comments: Nearly abolishes AP endodeoxyribonuclease activity.
up seq anno comments: Nuclear export signal (NES)
up seq anno comments: Nuclear localization signal (NLS)
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine; by CDK5
up seq anno comments: Proton donor/acceptor
up seq anno comments: Reduces AP endodeoxyribonuclease activity. Nearly abolishes AP endodeoxyribonuclease activity; when associated with A-283.
up seq anno comments: Reduces nuclear localization; when associated with A-12.
up seq anno comments: Reduces nuclear localization; when associated with A-13.
up seq anno comments: Reduces the interaction with TOMM20.
up seq anno comments: Reduces the interaction with TOMM20. Abolishes localization in the mitochondria; when associated with A-299.
up seq anno comments: Reduces the interaction with TOMM20. Abolishes localization in the mitochondria; when associated with A-301.
up seq anno comments: Removed
up seq anno comments: S-nitrosocysteine
up seq anno comments: S-nitrosocysteine; alternate
up seq anno comments: Strongly reduces AP endodeoxyribonuclease activity, but does not affect RNA cleavage activity. Nearly abolishes AP endodeoxyribonuclease activity; when associated with A-308.
up seq anno comments: Strongly reduces AP endodeoxyribonuclease activity.
up seq anno feature ids: PRO_0000200010
up seq anno feature ids: PRO_0000402572
up seq anno feature ids: VAR_013455
up seq anno feature ids: VAR_014823
up seq anno feature ids: VAR_019790

9606:RHO
gene id: 9606:RHO
uniprot id: P08100
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: Secondary Structure
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: 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: 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: 'Ionic lock' involved in activated form stabilization
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Found in a patient with retinitis pigmentosa; unknown pathological significance.
up seq anno comments: Found in patients with pathologic myopia; unknown pathological significance.
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 CSNBAD1.
up seq anno comments: In CSNBAD1; constitutive activity in the absence of bound retinal.
up seq anno comments: In RP4.
up seq anno comments: In RP4; autosomal recessive.
up seq anno comments: In RP4; common variant.
up seq anno comments: In RP4; most common variant; impairs protein folding; leads to interaction with EDEM1 followed by degradation by the ERAD system.
up seq anno comments: Induces a conformation change that promotes interaction with GRK1 and SAG; when associated with Q-113.
up seq anno comments: Induces a conformation change that promotes interaction with GRK1 and SAG; when associated with Y-257.
up seq anno comments: Loss of phosphorylation sites and decreased interaction with SAG.
up seq anno comments: Loss of phosphorylation sites and decreased interaction with SAG; when associated with 336-A--A-338.
up seq anno comments: Loss of phosphorylation sites and decreased interaction with SAG; when associated with A-343.
up seq anno comments: N-acetylmethionine
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: N6-(retinylidene)lysine
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno comments: Rhodopsin
up seq anno comments: S-palmitoyl cysteine
up seq anno feature ids: PRO_0000197677
up seq anno feature ids: VAR_004765
up seq anno feature ids: VAR_004766
up seq anno feature ids: VAR_004767
up seq anno feature ids: VAR_004768
up seq anno feature ids: VAR_004769
up seq anno feature ids: VAR_004770
up seq anno feature ids: VAR_004771
up seq anno feature ids: VAR_004772
up seq anno feature ids: VAR_004773
up seq anno feature ids: VAR_004774
up seq anno feature ids: VAR_004775
up seq anno feature ids: VAR_004776
up seq anno feature ids: VAR_004777
up seq anno feature ids: VAR_004778
up seq anno feature ids: VAR_004779
up seq anno feature ids: VAR_004780
up seq anno feature ids: VAR_004781
up seq anno feature ids: VAR_004782
up seq anno feature ids: VAR_004783
up seq anno feature ids: VAR_004784
up seq anno feature ids: VAR_004785
up seq anno feature ids: VAR_004786
up seq anno feature ids: VAR_004787
up seq anno feature ids: VAR_004788
up seq anno feature ids: VAR_004789
up seq anno feature ids: VAR_004790

9606:HPGD
gene id: 9606:HPGD
uniprot id: P15428
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: Secondary Structure
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: Helix
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: 15-hydroxyprostaglandin dehydrogenase [NAD(+)]
up seq anno comments: In COA; inactive.
up seq anno comments: In DIGC.
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 15-hydroxyprostaglandin dehydrogenase activity.
up seq anno comments: Loss of activity.
up seq anno comments: Proton acceptor
up seq anno comments: Reduced affinity for NAD and prostaglandin E2.
up seq anno feature ids: PRO_0000054744
up seq anno feature ids: VAR_006972
up seq anno feature ids: VAR_046209
up seq anno feature ids: VAR_060792
up seq anno feature ids: VSP_043032
up seq anno feature ids: VSP_045106
up seq anno feature ids: VSP_045107
up seq anno feature ids: VSP_045108
up seq anno feature ids: VSP_045579

9606:SIGLEC11
gene id: 9606:SIGLEC11
uniprot id: Q96RL6
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: 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: Motif
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: Extracellular
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 C2-type 3
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: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: Sialic acid-binding Ig-like lectin 11
up seq anno feature ids: PRO_0000014951
up seq anno feature ids: VSP_008764

9606:ABCA6
gene id: 9606:ABCA6
uniprot id: Q8N139
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: 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: 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 1
up seq anno comments: ABC transporter 2
up seq anno comments: ATP-binding cassette sub-family A member 6
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_0000250672
up seq anno feature ids: VAR_027576
up seq anno feature ids: VAR_027577
up seq anno feature ids: VAR_027578
up seq anno feature ids: VAR_027579
up seq anno feature ids: VAR_027580
up seq anno feature ids: VSP_020695
up seq anno feature ids: VSP_020696
up seq anno feature ids: VSP_020697
up seq anno feature ids: VSP_020698

9606:MLYCD
gene id: 9606:MLYCD
uniprot id: O95822
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: Secondary Structure
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: 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: Transit Peptide
up seq anno labels: Turn
up seq anno comments: 110-fold reduction in catalytic activity.
up seq anno comments: 2-fold reduction in catalytic activity.
up seq anno comments: 3.5-fold reduction in catalytic activity.
up seq anno comments: 7-fold reduction in catalytic activity.
up seq anno comments: Abolishes formation of disulfide-linked homotetramers. Abolishes the cooperative enzyme kinetics that are seen under oxidative conditions.
up seq anno comments: Decreases catalytic activity. Increases affinity for malonyl-CoA.
up seq anno comments: Does not abolish formation of disulfide-linked homotetramers. No effect on development of cooperative enzyme kinetics in response to oxidative conditions.
up seq anno comments: In isoform Cytoplasmic+peroxisomal.
up seq anno comments: Interchain
up seq anno comments: Malonyl-CoA decarboxylase, mitochondrial
up seq anno comments: Microbody targeting signal
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
up seq anno feature ids: PRO_0000021088
up seq anno feature ids: VSP_047649

9606:KRTAP25-1
gene id: 9606:KRTAP25-1
uniprot id: Q3LHN0
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno comments: Keratin-associated protein 25-1
up seq anno feature ids: PRO_0000308251
up seq anno feature ids: VAR_060063

9606:EGFL6
gene id: 9606:EGFL6
uniprot id: Q8IUX8
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 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: 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: 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: Epidermal growth factor-like protein 6
up seq anno comments: In isoform 2.
up seq anno comments: MAM
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000295811
up seq anno feature ids: VAR_033366
up seq anno feature ids: VAR_033367
up seq anno feature ids: VAR_033368
up seq anno feature ids: VAR_033369
up seq anno feature ids: VSP_027089

9606:SKAP1
gene id: 9606:SKAP1
uniprot id: Q86WV1
uniprot id: V9HW03
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: Secondary Structure
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: 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: 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: 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:OR6C1
gene id: 9606:OR6C1
uniprot id: Q96RD1
up 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 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 6C1
up seq anno feature ids: PRO_0000150623
up seq anno feature ids: VAR_034239
up seq anno feature ids: VAR_034240
up seq anno feature ids: VAR_034241
up seq anno feature ids: VAR_034242

9606:NDUFS4
gene id: 9606:NDUFS4
uniprot id: A0A0S2Z433
uniprot id: O43181
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: Secondary Structure
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: 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 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:SNTG2
gene id: 9606:SNTG2
uniprot id: Q9NY99
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: 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:CCDC169
gene id: 9606:CCDC169
uniprot id: A6NNP5
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Coiled-coil domain-containing protein 169
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:MED18
gene id: 9606:MED18
uniprot id: Q9BUE0
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: Secondary Structure
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: Strand
up seq anno labels: Turn
up seq anno comments: Mediator of RNA polymerase II transcription subunit 18
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000304742

9606:STOML1
gene id: 9606:STOML1
uniprot id: H3BST3
uniprot id: Q53HB6
uniprot id: Q9UBI4
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 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: Non-terminal Residue
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: Helical
up seq anno comments: Helical; Signal-anchor for type III membrane protein
up seq anno comments: In isoform 2 and isoform 4.
up seq anno comments: In isoform 3, 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: PHB
up seq anno comments: Phosphoserine
up seq anno comments: Plasma membrane localization.
up seq anno comments: SCP2
up seq anno comments: Stomatin-like protein 1
up seq anno comments: Tyrosine-type lysosomal sorting signal
up seq anno feature ids: PRO_0000094029
up seq anno feature ids: VSP_012654
up seq anno feature ids: VSP_054648
up seq anno feature ids: VSP_054649
up seq anno feature ids: VSP_054650

9606:CNPPD1
gene id: 9606:CNPPD1
uniprot id: Q9BV87
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 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: Protein CNPPD1
up seq anno feature ids: PRO_0000089352
up seq anno feature ids: VAR_022825
up seq anno feature ids: VAR_024298
up seq anno feature ids: VAR_024299
up seq anno feature ids: VAR_024300
up seq anno feature ids: VAR_056769

9606:POLR1E
gene id: 9606:POLR1E
uniprot id: Q9GZS1
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: Secondary Structure
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: DNA-directed RNA polymerase I subunit RPA49
up seq anno comments: Decreased acetylation.
up seq anno comments: In isoform 1.
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000073956
up seq anno feature ids: VAR_022372
up seq anno feature ids: VAR_022373
up seq anno feature ids: VAR_022374
up seq anno feature ids: VSP_059915

9606:ZNF703
gene id: 9606:ZNF703
uniprot id: Q9H7S9
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: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Zinc Finger
up seq anno comments: C2H2-type
up seq anno comments: N-acetylserine
up seq anno comments: Omega-N-methylarginine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Removed
up seq anno comments: Zinc finger protein 703
up seq anno feature ids: PRO_0000047702

9606:GAGE12B
gene id: 9606:GAGE12B
uniprot id: A1L429
uniprot id: O76087
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 comments: Basic and acidic residues
up seq anno comments: G antigen 12B/C/D/E
up seq anno comments: G antigen 7
up seq anno feature ids: PRO_0000148345
up seq anno feature ids: PRO_0000311977

9606:CD3G
gene id: 9606:CD3G
uniprot id: B0YIY5
uniprot id: P09693
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: Secondary Structure
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 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 lysosomal targeting.
up seq anno comments: Cytoplasmic
up seq anno comments: Di-leucine motif
up seq anno comments: Diminished but persistent lysosomal targeting.
up seq anno comments: Extracellular
up seq anno comments: Helical
up seq anno comments: IGc2
up seq anno comments: ITAM
up seq anno comments: Ig-like
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No effect.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PKC
up seq anno comments: T-cell surface glycoprotein CD3 gamma chain
up seq anno feature ids: PRO_0000014615
up seq anno feature ids: PRO_5014298165
up seq anno feature ids: VAR_049854

9606:FNDC1
gene id: 9606:FNDC1
uniprot id: Q4ZHG4
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 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: 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: Fibronectin type III domain-containing protein 1
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: 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 feature ids: PRO_0000284831
up seq anno feature ids: VAR_031826
up seq anno feature ids: VAR_031827
up seq anno feature ids: VAR_031828
up seq anno feature ids: VAR_031829
up seq anno feature ids: VAR_031830
up seq anno feature ids: VAR_031831
up seq anno feature ids: VAR_031832
up seq anno feature ids: VAR_031833
up seq anno feature ids: VAR_063225
up seq anno feature ids: VSP_024663

9606:COPS7A
gene id: 9606:COPS7A
uniprot id: Q9UBW8
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 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 comments: COP9 signalosome complex subunit 7a
up seq anno comments: N-acetylserine
up seq anno comments: PCI
up seq anno comments: Removed
up seq anno feature ids: PRO_0000120996

9606:ZCCHC17
gene id: 9606:ZCCHC17
uniprot id: A0A087WXF8
uniprot id: A0A087WXU5
uniprot id: A0A087WYF0
uniprot id: A0A087WYV3
uniprot id: A0A0D9SEW3
uniprot id: B4DYA9
uniprot id: Q9NP64
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: Secondary Structure
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: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno labels: Strand
up seq anno labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: CCHC-type
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: S1 motif
up seq anno comments: Zinc finger CCHC domain-containing protein 17
up seq anno feature ids: PRO_0000096902
up seq anno feature ids: VSP_015308
up seq anno feature ids: VSP_054531

9606:ABCA10
gene id: 9606:ABCA10
uniprot id: Q8WWZ4
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: 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 labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno labels: Transmembrane
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 10
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_0000253572
up seq anno feature ids: VAR_028384
up seq anno feature ids: VAR_028385
up seq anno feature ids: VAR_028386
up seq anno feature ids: VAR_055469
up seq anno feature ids: VSP_021061
up seq anno feature ids: VSP_021062
up seq anno feature ids: VSP_021063
up seq anno feature ids: VSP_021064
up seq anno feature ids: VSP_021065
up seq anno feature ids: VSP_021066
up seq anno feature ids: VSP_021067

9606:MAP1S
gene id: 9606:MAP1S
uniprot id: Q66K74
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Basic and acidic residues
up seq anno comments: In isoform 2.
up seq anno comments: MAP1S heavy chain
up seq anno comments: MAP1S light chain
up seq anno comments: Microtubule-associated protein 1S
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_0000311379
up seq anno feature ids: PRO_0000311380
up seq anno feature ids: PRO_0000311381
up seq anno feature ids: VAR_037236
up seq anno feature ids: VAR_037237
up seq anno feature ids: VAR_050023
up seq anno feature ids: VSP_056043

9606:FABP6
gene id: 9606:FABP6
uniprot id: P51161
up 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 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 labels: Turn
up seq anno comments: Gastrotropin
up seq anno comments: In isoform 2.
up seq anno comments: May be associated with type 2 diabetes obese individuals.
up seq anno comments: N-acetylalanine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000067380
up seq anno feature ids: VAR_039578
up seq anno feature ids: VAR_039579
up seq anno feature ids: VAR_039580
up seq anno feature ids: VSP_038039

9606:OR10G3
gene id: 9606:OR10G3
uniprot id: A0A126GWE3
uniprot id: Q8NGC4
up 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 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_RECEP_F1_2
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 10G3
up seq anno feature ids: PRO_0000150696
up seq anno feature ids: VAR_053274

9606:CIP2A
gene id: 9606:CIP2A
uniprot id: Q8TCG1
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: 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: 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: Transmembrane
up seq anno labels: Turn
up seq anno comments: Decreases homodimerization. Reduces binding to PPP2R5C. Decreases protein level.
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: N-acetylmethionine
up seq anno comments: Phosphoserine
up seq anno comments: Protein CIP2A
up seq anno comments: Reduces binding to PPP2R5C.
up seq anno feature ids: PRO_0000287141
up seq anno feature ids: VAR_046939
up seq anno feature ids: VAR_046940
up seq anno feature ids: VAR_046941
up seq anno feature ids: VAR_046942
up seq anno feature ids: VAR_046943
up seq anno feature ids: VAR_046944
up seq anno feature ids: VAR_046945
up seq anno feature ids: VAR_046946
up seq anno feature ids: VSP_025336

9606:TNFAIP6
gene id: 9606:TNFAIP6
uniprot id: P98066
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: Secondary Structure
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: 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:TTC26
gene id: 9606:TTC26
uniprot id: A0AVF1
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 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 comments: In BRENS; decreased protein abundance; associated with abnormal ciliary structure and function.
up seq anno comments: In BRENS; unknown pathological significance.
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Intraflagellar transport protein 56
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_0000289082
up seq anno feature ids: VAR_032568
up seq anno feature ids: VAR_086383
up seq anno feature ids: VAR_086384
up seq anno feature ids: VSP_043751
up seq anno feature ids: VSP_044791

9606:ABHD2
gene id: 9606:ABHD2
uniprot id: A0A024RC89
uniprot id: P08910
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: Site
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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Topological Domain
up seq anno labels: Transmembrane
up seq anno comments: AB hydrolase-1
up seq anno comments: Charge relay system
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: Monoacylglycerol lipase ABHD2
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Nucleophile
up seq anno feature ids: PRO_0000212457
up seq anno feature ids: VAR_031203

9606:ZNF541
gene id: 9606:ZNF541
uniprot id: Q9H0D2
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: 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: ELM2
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 comments: SANT
up seq anno comments: Zinc finger protein 541
up seq anno feature ids: PRO_0000197136
up seq anno feature ids: VAR_035717
up seq anno feature ids: VAR_054220
up seq anno feature ids: VAR_054221
up seq anno feature ids: VAR_054222
up seq anno feature ids: VSP_016024

9606:NDUFA4L2
gene id: 9606:NDUFA4L2
uniprot id: A0A024RB39
uniprot id: Q9NRX3
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Transmembrane
up seq anno comments: Helical
up seq anno comments: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4-like 2
up seq anno feature ids: PRO_0000118825

9606:MYOZ3
gene id: 9606:MYOZ3
uniprot id: Q8TDC0
up 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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: In isoform 3.
up seq anno comments: Myozenin-3
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000111102
up seq anno feature ids: VAR_056203
up seq anno feature ids: VAR_067718
up seq anno feature ids: VSP_051876
up seq anno feature ids: VSP_051877
up seq anno feature ids: VSP_051878
up seq anno feature ids: VSP_051879

9606:RTP3
gene id: 9606:RTP3
uniprot id: Q9BQQ7
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Region
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: Helical
up seq anno comments: Receptor-transporting protein 3
up seq anno feature ids: PRO_0000181993

9606:ASZ1
gene id: 9606:ASZ1
uniprot id: Q8WWH4
up 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 labels: Chain
up seq anno labels: Domain Extent
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: 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, SAM and basic leucine zipper domain-containing protein 1
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: SAM
up seq anno feature ids: PRO_0000066969
up seq anno feature ids: VAR_024175
up seq anno feature ids: VSP_056918

9606:SCRN3
gene id: 9606:SCRN3
uniprot id: Q0VDG4
uniprot id: Q0VDG5
up 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 labels: Active Site
up seq anno labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: In isoform 2.
up seq anno comments: Secernin-3
up seq anno feature ids: PRO_0000262559
up seq anno feature ids: VAR_034487
up seq anno feature ids: VAR_053611
up seq anno feature ids: VAR_069467
up seq anno feature ids: VSP_042720

9606:ITGB5
gene id: 9606:ITGB5
uniprot id: D3DNA1
uniprot id: L7RT22
uniprot id: P18084
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 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: 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: Extracellular
up seq anno comments: Helical
up seq anno comments: I
up seq anno comments: II
up seq anno comments: III
up seq anno comments: INB
up seq anno comments: IV
up seq anno comments: Integrin beta
up seq anno comments: Integrin beta-5
up seq anno comments: Integrin_B_tail
up seq anno comments: Integrin_b_cyt
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: PSI
up seq anno comments: Phosphoserine
up seq anno comments: VWFA
up seq anno feature ids: PRO_0000016348
up seq anno feature ids: PRO_5014306163
up seq anno feature ids: VAR_024290
up seq anno feature ids: VAR_049634
up seq anno feature ids: VAR_049635

9606:GOLGA3
gene id: 9606:GOLGA3
uniprot id: Q08378
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 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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Abolishes cleavage by caspase-2.
up seq anno comments: Abolishes cleavage by caspase-3.
up seq anno comments: Abolishes cleavage by caspase-7.
up seq anno comments: Basic and acidic residues
up seq anno comments: Golgin subfamily A member 3
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Loss of interaction with GOPC; when associated with A-121 and A-128.
up seq anno comments: Loss of interaction with GOPC; when associated with A-121 and A-135.
up seq anno comments: Loss of interaction with GOPC; when associated with A-128 and A-135.
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 feature ids: PRO_0000190057
up seq anno feature ids: VAR_020153
up seq anno feature ids: VAR_020154
up seq anno feature ids: VAR_021901
up seq anno feature ids: VSP_007728
up seq anno feature ids: VSP_007729
up seq anno feature ids: VSP_038000
up seq anno feature ids: VSP_038001

9606:PAPPA2
gene id: 9606:PAPPA2
uniprot id: Q9BXP8
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: 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: Glycosylation Site
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: Splice Variant
up seq anno comments: In SSDA.
up seq anno comments: In SSDA; loss of catalytic activity toward IGFBP3 and IGFBP5.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of activity.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Or C-754 with C-783
up seq anno comments: Or C-788 with C-771
up seq anno comments: Pappalysin-2
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_0000029249
up seq anno feature ids: PRO_0000029250
up seq anno feature ids: VAR_051595
up seq anno feature ids: VAR_051596
up seq anno feature ids: VAR_086132
up seq anno feature ids: VAR_086133
up seq anno feature ids: VSP_012194
up seq anno feature ids: VSP_012195

9606:WAS
gene id: 9606:WAS
uniprot id: A0A024QYX8
uniprot id: P42768
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: Secondary Structure
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: 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: Acidic residues
up seq anno comments: Actin nucleation-promoting factor WAS
up seq anno comments: CRIB
up seq anno comments: Found in a patient with THC1; unknown pathological significance.
up seq anno comments: GRSGPLPPXP motif 1
up seq anno comments: GRSGPLPPXP motif 2
up seq anno comments: In THC1.
up seq anno comments: In WAS and THC1.
up seq anno comments: In WAS.
up seq anno comments: In WAS; attenuated form.
up seq anno comments: In WAS; found in a patient with MRT52.
up seq anno comments: In WAS; mild form.
up seq anno comments: In WAS; moderate form.
up seq anno comments: In WAS; severe form.
up seq anno comments: In XLN; a constitutively activating mutation.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CK2
up seq anno comments: Phosphotyrosine; by FYN and HCK
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: Removed
up seq anno comments: WH1
up seq anno comments: WH2
up seq anno feature ids: PRO_0000188990
up seq anno feature ids: VAR_005823
up seq anno feature ids: VAR_005824
up seq anno feature ids: VAR_005825
up seq anno feature ids: VAR_005826
up seq anno feature ids: VAR_005827
up seq anno feature ids: VAR_005828
up seq anno feature ids: VAR_005829
up seq anno feature ids: VAR_005830
up seq anno feature ids: VAR_005831
up seq anno feature ids: VAR_005832
up seq anno feature ids: VAR_005833
up seq anno feature ids: VAR_005834
up seq anno feature ids: VAR_005835
up seq anno feature ids: VAR_005836
up seq anno feature ids: VAR_005837
up seq anno feature ids: VAR_005838
up seq anno feature ids: VAR_005839
up seq anno feature ids: VAR_008105
up seq anno feature ids: VAR_008106
up seq anno feature ids: VAR_008107
up seq anno feature ids: VAR_008108
up seq anno feature ids: VAR_008109
up seq anno feature ids: VAR_008110
up seq anno feature ids: VAR_012710
up seq anno feature ids: VAR_012711
up seq anno feature ids: VAR_022806
up seq anno feature ids: VAR_022807
up seq anno feature ids: VAR_033255
up seq anno feature ids: VAR_033256
up seq anno feature ids: VAR_033257
up seq anno feature ids: VAR_074020

9606:SFRP1
gene id: 9606:SFRP1
uniprot id: Q8N474
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 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: Signal Peptide
up seq anno comments: FZ
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: NTR
up seq anno comments: No effect on molecular weight.
up seq anno comments: Reduced molecular weight.
up seq anno comments: Secreted frizzled-related protein 1
up seq anno feature ids: PRO_0000032538

9606:TBC1D1
gene id: 9606:TBC1D1
uniprot id: B9A6J6
uniprot id: Q6PJJ8
uniprot id: Q86TI0
uniprot id: Q8NC59
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: Secondary Structure
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: 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: In isoform 2.
up seq anno comments: May be associated with risk of familial obesity.
up seq anno comments: PID
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by PKB/AKT1
up seq anno comments: Phosphothreonine
up seq anno comments: Phosphothreonine; by PKB/AKT1
up seq anno comments: Phosphotyrosine
up seq anno comments: Polar residues
up seq anno comments: Rab-GAP TBC
up seq anno comments: Substantially reduced RabGAP GTPase hydrolysis activity.
up seq anno comments: TBC1 domain family member 1
up seq anno feature ids: PRO_0000208022
up seq anno feature ids: VAR_028089
up seq anno feature ids: VAR_028090
up seq anno feature ids: VAR_028091
up seq anno feature ids: VAR_028092
up seq anno feature ids: VAR_028093
up seq anno feature ids: VAR_054392
up seq anno feature ids: VSP_044749
up seq anno feature ids: VSP_044750

9606:FBXO40
gene id: 9606:FBXO40
uniprot id: Q9UH90
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Basic and acidic residues
up seq anno comments: F-box
up seq anno comments: F-box only protein 40
up seq anno comments: TRAF-type
up seq anno feature ids: PRO_0000119938
up seq anno feature ids: VAR_030005

9606:TRPM5
gene id: 9606:TRPM5
uniprot id: Q9NZQ8
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
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: 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: Extracellular
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: Transient receptor potential cation channel subfamily M member 5
up seq anno feature ids: PRO_0000328933
up seq anno feature ids: VAR_042578
up seq anno feature ids: VAR_052377
up seq anno feature ids: VAR_052378
up seq anno feature ids: VAR_052379
up seq anno feature ids: VAR_059836
up seq anno feature ids: VSP_052741
up seq anno feature ids: VSP_052742
up seq anno feature ids: VSP_052743

9606:GAK
gene id: 9606:GAK
uniprot id: B4DS37
uniprot id: O14976
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: Secondary Structure
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: 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: Basic and acidic residues
up seq anno comments: C2 tensin-type
up seq anno comments: Cyclin-G-associated kinase
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:CALML4
gene id: 9606:CALML4
uniprot id: Q96GE6
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Calmodulin-like protein 4
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 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 feature ids: PRO_0000314933
up seq anno feature ids: VAR_048586
up seq anno feature ids: VAR_048587
up seq anno feature ids: VSP_030435
up seq anno feature ids: VSP_030436
up seq anno feature ids: VSP_047150
up seq anno feature ids: VSP_055513
up seq anno feature ids: VSP_055514

9606:MYNN
gene id: 9606:MYNN
uniprot id: Q9NPC7
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: Secondary Structure
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: 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: 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: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
up seq anno comments: Myoneurin
up seq anno comments: Nuclear localization signal
up seq anno comments: Phosphoserine
up seq anno feature ids: PRO_0000248217
up seq anno feature ids: VSP_020213
up seq anno feature ids: VSP_020214
up seq anno feature ids: VSP_020215
up seq anno feature ids: VSP_020216
up seq anno feature ids: VSP_020217

9606:DACT2
gene id: 9606:DACT2
uniprot id: Q5SW24
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 labels: Chain
up seq anno labels: Coiled-Coil
up seq anno labels: Compositionally Biased Region
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: Basic and acidic residues
up seq anno comments: Dapper homolog 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: PDZ-binding
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000326199
up seq anno feature ids: VAR_059969
up seq anno feature ids: VAR_059970
up seq anno feature ids: VSP_032595
up seq anno feature ids: VSP_032596
up seq anno feature ids: VSP_032597
up seq anno feature ids: VSP_032598

9606:DDHD2
gene id: 9606:DDHD2
uniprot id: B3KPM6
uniprot id: O94830
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: Site
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: Abolishes phospholipase activity. Loss of efficient targeting to the Golgi apparatus. No effect on PI(3)P-, PI(4)P-, PI(5)P-binding.
up seq anno comments: DDHD
up seq anno comments: In SPG54.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of phospholipid binding and of Golgi/ERGIC localization; when associated with A-434 and A-435.
up seq anno comments: Loss of phospholipid binding and of Golgi/ERGIC localization; when associated with A-434 and A-436.
up seq anno comments: Loss of phospholipid binding and of Golgi/ERGIC localization; when associated with A-435 and A-436.
up seq anno comments: Phospholipase DDHD2
up seq anno comments: Phosphoserine
up seq anno comments: SAM
up seq anno comments: WWE
up seq anno feature ids: PRO_0000309330
up seq anno feature ids: VAR_036930
up seq anno feature ids: VAR_069574
up seq anno feature ids: VSP_056087

9606:POSTN
gene id: 9606:POSTN
uniprot id: A0A024RDS2
uniprot id: A0A024RDT5
uniprot id: B1ALD9
uniprot id: Q15063
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: Secondary Structure
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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
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_5001533769
up seq anno feature ids: PRO_5002761412
up seq anno feature ids: PRO_5014214311
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:PLPPR2
gene id: 9606:PLPPR2
uniprot id: A0A024R7E2
uniprot id: Q96GM1
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 labels: Chain
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: Splice Variant
up seq anno labels: Transmembrane
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: Phospholipid phosphatase-related protein type 2
up seq anno comments: Phosphoserine
up seq anno comments: acidPPc
up seq anno feature ids: PRO_0000317538
up seq anno feature ids: VAR_038546
up seq anno feature ids: VSP_031010
up seq anno feature ids: VSP_031011

9606:CHRFAM7A
gene id: 9606:CHRFAM7A
uniprot id: A0A0A6YYA8
uniprot id: P36544
uniprot id: Q494W8
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: Secondary Structure
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: 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: 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: Neur_chan_LBD
up seq anno comments: Neur_chan_memb
up seq anno comments: Neuronal acetylcholine receptor subunit alpha-7
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:PCDH12
gene id: 9606:PCDH12
uniprot id: Q9NPG4
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 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: 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 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 DMJDS1.
up seq anno comments: In DMJDS1; unknown pathological significance.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Protocadherin-12
up seq anno comments: Protocadherin-12, secreted form
up seq anno feature ids: PRO_0000003996
up seq anno feature ids: PRO_0000444041
up seq anno feature ids: VAR_020368
up seq anno feature ids: VAR_020369
up seq anno feature ids: VAR_080385
up seq anno feature ids: VAR_080386
up seq anno feature ids: VAR_080387
up seq anno feature ids: VAR_080388
up seq anno feature ids: VAR_080389

9606:PLPPR5
gene id: 9606:PLPPR5
uniprot id: Q32ZL2
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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: Phospholipid phosphatase-related protein type 5
up seq anno feature ids: PRO_0000321933
up seq anno feature ids: VSP_031828

9606:FBXL6
gene id: 9606:FBXL6
uniprot id: Q8N531
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Repeat
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: F-box
up seq anno comments: F-box/LRR-repeat protein 6
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 feature ids: PRO_0000119847
up seq anno feature ids: VAR_085739
up seq anno feature ids: VSP_008498

9606:RBM33
gene id: 9606:RBM33
uniprot id: Q96EV2
up 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 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: Initiator Methionine
up seq anno labels: Modified Residue
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
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: 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: Omega-N-methylarginine; alternate
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Pro residues
up seq anno comments: RNA-binding protein 33
up seq anno comments: RRM
up seq anno comments: Removed
up seq anno feature ids: PRO_0000292982
up seq anno feature ids: VAR_052223
up seq anno feature ids: VSP_030143
up seq anno feature ids: VSP_030144

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: 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 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: 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: 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:FAM189B
gene id: 9606:FAM189B
uniprot id: P81408
uniprot id: Q9Y6J7
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 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-terminal Residue
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 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 B.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphoserine
up seq anno comments: Pro residues
up seq anno comments: Protein ENTREP3
up seq anno feature ids: PRO_0000079261
up seq anno feature ids: VAR_035684
up seq anno feature ids: VAR_037876
up seq anno feature ids: VAR_056842
up seq anno feature ids: VSP_038926
up seq anno feature ids: VSP_046728
up seq anno feature ids: VSP_046729

9606:SPATS2L
gene id: 9606:SPATS2L
uniprot id: A0A024R3V0
uniprot id: B8ZZZ7
uniprot id: Q9NUQ6
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 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: 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: In isoform 2.
up seq anno comments: In isoform 3.
up seq anno comments: In isoform 4.
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: SPATS2-like protein
up seq anno feature ids: PRO_0000307699
up seq anno feature ids: VSP_028792
up seq anno feature ids: VSP_054241
up seq anno feature ids: VSP_054242

9606:SDR42E1
gene id: 9606:SDR42E1
uniprot id: Q8WUS8
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: Site
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:TOPBP1
gene id: 9606:TOPBP1
uniprot id: A0AV47
uniprot id: A7E2X7
uniprot id: Q05BV8
uniprot id: Q92547
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: Secondary Structure
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: 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: BRCT
up seq anno comments: BRCT 1
up seq anno comments: BRCT 2
up seq anno comments: BRCT 3
up seq anno comments: BRCT 4
up seq anno comments: BRCT 5
up seq anno comments: BRCT 6
up seq anno comments: BRCT 7
up seq anno comments: BRCT 8
up seq anno comments: DNA topoisomerase 2-binding protein 1
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 feature ids: PRO_0000072631
up seq anno feature ids: VAR_057007
up seq anno feature ids: VAR_059733
up seq anno feature ids: VAR_059734

9606:KRT39
gene id: 9606:KRT39
uniprot id: Q6A163
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Sequence Variant
up seq anno comments: IF rod
up seq anno comments: Keratin, type I cytoskeletal 39
up seq anno feature ids: PRO_0000314853
up seq anno feature ids: VAR_038075
up seq anno feature ids: VAR_038076
up seq anno feature ids: VAR_038077

9606:NT5C1B
gene id: 9606:NT5C1B
uniprot id: A0A140VJC7
uniprot id: B3KUK6
uniprot id: B4DXZ9
uniprot id: B4DZ86
uniprot id: Q96P26
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: Site
up seq anno labels: Active Site
up seq anno labels: Chain
up seq anno labels: Compositionally Biased 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: Cytosolic 5'-nucleotidase 1B
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: Polar residues
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000144796
up seq anno feature ids: VSP_010201
up seq anno feature ids: VSP_010202
up seq anno feature ids: VSP_010203

9606:ZNF527
gene id: 9606:ZNF527
uniprot id: Q8NB42
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 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 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: In isoform 2.
up seq anno comments: KRAB
up seq anno comments: Zinc finger protein 527
up seq anno feature ids: PRO_0000047639
up seq anno feature ids: VSP_040341

9606:LHX4
gene id: 9606:LHX4
uniprot id: A0A0S2Z5S4
uniprot id: Q969G2
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 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: Non-terminal Residue
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: Homeobox
up seq anno comments: In CPHD4.
up seq anno comments: In CPHD4; has impaired activity on CGA, POU1F1 and TSHB promoters but exhibits normal DNA binding to the CGA pituitary glycoprotein basal element (PGBE) and interaction with the POU1F1 protein.
up seq anno comments: In CPHD4; the mutant protein is inactive in DNA binding and pituitary gene activation assays.
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 Lhx4
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000075787
up seq anno feature ids: VAR_046661
up seq anno feature ids: VAR_058715
up seq anno feature ids: VAR_058716
up seq anno feature ids: VAR_058717
up seq anno feature ids: VAR_063241

9606:ANKS1A
gene id: 9606:ANKS1A
uniprot id: Q05CP0
uniprot id: Q92625
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: Secondary Structure
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: 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: 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:TUT4
gene id: 9606:TUT4
uniprot id: A0A0C4DFM7
uniprot id: Q5TAX3
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: Secondary Structure
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: 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 labels: Zinc Finger
up seq anno comments: Basic and acidic residues
up seq anno comments: CCHC-type
up seq anno comments: CCHC-type 1
up seq anno comments: CCHC-type 2
up seq anno comments: CCHC-type 3
up seq anno comments: Decreased LIN28A and pre-let-7 RNA binding and pre-let-7 RNA uridylylation.
up seq anno comments: Decreased LIN28A and pre-let-7 RNA binding and pre-let-7 RNA uridylylation; when associated with A-450.
up seq anno comments: Decreased LIN28A and pre-let-7 RNA binding and pre-let-7 RNA uridylylation; when associated with A-452.
up seq anno comments: In isoform 2.
up seq anno comments: Loss of LIN28A and pre-let-7 RNA binding and loss of pre-let-7 RNA uridylylation; when associated with A-306.
up seq anno comments: Loss of LIN28A and pre-let-7 RNA binding and loss of pre-let-7 RNA uridylylation; when associated with A-309.
up seq anno comments: Loss of interaction with LIN28A and pre-let-7 RNA.
up seq anno comments: Loss of nucleotidyltransferase activity and stabilization of pre-let-7 miRNAs. Abolishes inhibition of LIRE1 retrotransposition.
up seq anno comments: Matrin-type
up seq anno comments: Omega-N-methylarginine
up seq anno comments: PAP-associated 1
up seq anno comments: PAP-associated 2
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Strongly decreased LIN28A and pre-let-7 RNA binding and pre-let-7 RNA uridylylation.
up seq anno comments: Strongly decreased LIN28A and pre-let-7 RNA binding and pre-let-7 RNA uridylylation; when associated with A-321.
up seq anno comments: Strongly decreased LIN28A and pre-let-7 RNA binding and pre-let-7 RNA uridylylation; when associated with A-324.
up seq anno comments: Terminal uridylyltransferase 4
up seq anno feature ids: PRO_0000150970
up seq anno feature ids: VAR_028402
up seq anno feature ids: VSP_038135
up seq anno feature ids: VSP_038136

9606:TAF6L
gene id: 9606:TAF6L
uniprot id: A0A024R5A7
uniprot id: A8K0D4
uniprot id: Q9Y6J9
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 labels: Chain
up seq anno labels: Domain Extent
up seq anno labels: Helix
up seq anno labels: Modified Residue
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Asymmetric dimethylarginine
up seq anno comments: Phosphoserine
up seq anno comments: TAF
up seq anno comments: TAF6-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 6L
up seq anno feature ids: PRO_0000118879

9606:ZFP28
gene id: 9606:ZFP28
uniprot id: Q8NHY6
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 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: Splice Variant
up seq anno labels: Strand
up seq anno labels: Turn
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; 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: In isoform 2.
up seq anno comments: KRAB 1
up seq anno comments: KRAB 2
up seq anno comments: Zinc finger protein 28 homolog
up seq anno feature ids: PRO_0000047289
up seq anno feature ids: VAR_024190
up seq anno feature ids: VAR_052738
up seq anno feature ids: VSP_055934
up seq anno feature ids: VSP_055935

9606:PSMD14
gene id: 9606:PSMD14
uniprot id: A0A140VKF2
uniprot id: O00487
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: 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: Motif
up seq anno labels: Mutagenesis Site
up seq anno comments: 26S proteasome non-ATPase regulatory subunit 14
up seq anno comments: Abolishes ubiquitin thioesterase activity, leading to prevent maintenance of JMJD2A/KDM4A on chromatin.
up seq anno comments: JAMM motif
up seq anno comments: MPN
up seq anno comments: Phosphoserine
up seq anno comments: Phosphothreonine
up seq anno feature ids: PRO_0000213952

9606:ATRAID
gene id: 9606:ATRAID
uniprot id: Q6UW56
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 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: All-trans retinoic acid-induced differentiation factor
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.
up seq anno comments: In isoform 3.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno feature ids: PRO_0000020752
up seq anno feature ids: VAR_057991
up seq anno feature ids: VSP_014108
up seq anno feature ids: VSP_037521

9606:IER5
gene id: 9606:IER5
uniprot id: Q5VY09
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 labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno comments: Immediate early response gene 5 protein
up seq anno comments: Pro residues
up seq anno feature ids: PRO_0000190438
up seq anno feature ids: VAR_028404
up seq anno feature ids: VAR_028405
up seq anno feature ids: VAR_028406
up seq anno feature ids: VAR_028407
up seq anno feature ids: VAR_028408

9606:PTPRG
gene id: 9606:PTPRG
uniprot id: P23470
uniprot id: Q49A02
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: Secondary Structure
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: 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: 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: Alpha-carbonic anhydrase
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Extracellular
up seq anno comments: Fibronectin type-III
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Loss of dimerization; when associated with E-958.
up seq anno comments: Loss of dimerization; when associated with E-960.
up seq anno comments: Loss of dimerization; when associated with K-1305.
up seq anno comments: Loss of dimerization; when associated with K-1306.
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 gamma
up seq anno comments: Tyrosine-protein phosphatase 1
up seq anno comments: Tyrosine-protein phosphatase 2
up seq anno feature ids: PRO_0000025441
up seq anno feature ids: VAR_020301
up seq anno feature ids: VAR_031562
up seq anno feature ids: VAR_070892
up seq anno feature ids: VSP_024353

9606:GSTM5
gene id: 9606:GSTM5
uniprot id: P46439
uniprot id: Q5T8R2
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: 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 labels: Sequence Variant
up seq anno comments: GST C-terminal
up seq anno comments: GST N-terminal
up seq anno comments: Glutathione S-transferase Mu 5
up seq anno feature ids: PRO_0000185825
up seq anno feature ids: VAR_049491
up seq anno feature ids: VAR_065098

9606:SH3BGR
gene id: 9606:SH3BGR
uniprot id: C9JJT2
uniprot id: P55822
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: Acidic residues
up seq anno comments: Basic and acidic residues
up seq anno comments: In isoform 2.
up seq anno comments: SH3 domain-binding glutamic acid-rich protein
up seq anno comments: SH3-binding
up seq anno feature ids: PRO_0000220743
up seq anno feature ids: VAR_028233
up seq anno feature ids: VAR_057182
up seq anno feature ids: VAR_057183
up seq anno feature ids: VSP_045788

9606:FXYD5
gene id: 9606:FXYD5
uniprot id: F5H4X8
uniprot id: Q96DB9
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 labels: Chain
up seq anno labels: Compositionally Biased 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: FXYD domain-containing ion transport regulator
up seq anno comments: FXYD domain-containing ion transport regulator 5
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000010369
up seq anno feature ids: PRO_5013982299
up seq anno feature ids: VAR_012349
up seq anno feature ids: VAR_027959
up seq anno feature ids: VSP_001584

9606:IFNAR1
gene id: 9606:IFNAR1
uniprot id: A0A494C0E2
uniprot id: P17181
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: Secondary Structure
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: 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: Abolished STAT1 activation upon IFNA2 binding but no effect upon IFNG binding.
up seq anno comments: Abolishes interaction with FBXW11 and decreases ubiquitination.
up seq anno comments: Abolishes phosphorylation at this site and interaction with SHMT2.
up seq anno comments: Basic and acidic residues
up seq anno comments: Cytoplasmic
up seq anno comments: Decreased STAT1 activation upon IFNA2 binding but no effect upon IFNG binding.
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: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
up seq anno comments: Helical
up seq anno comments: Impairs interaction with TYK2.
up seq anno comments: Impairs internalization in response to interferon.
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: Interfer-bind
up seq anno comments: Interferon alpha/beta receptor 1
up seq anno comments: Mildly reduces ubiquitination. Nearly abolishes ubiquitination and subsequent degradation; when associated with 525-R-R-526.
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: No effect on activation of STAT1 upon IFNA2 or IFNG binding IFNG binding.
up seq anno comments: No effect on activation of STAT1 upon IFNA2 or IFNG binding.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphotyrosine; by TYK2
up seq anno comments: Reduces ubiquitination. Nearly abolishes ubiquitination and subsequent degradation; when associated with R-501.
up seq anno comments: Requires 2 nucleotide substitutions; no effect on activation of STAT1 upon IFNA2 or IFNG binding.
up seq anno comments: S-palmitoyl cysteine
up seq anno feature ids: PRO_0000011001
up seq anno feature ids: PRO_5019841122
up seq anno feature ids: VAR_002717
up seq anno feature ids: VAR_020502
up seq anno feature ids: VAR_020503
up seq anno feature ids: VAR_084085
up seq anno feature ids: VAR_084086
up seq anno feature ids: VAR_084087
up seq anno feature ids: VAR_084088
up seq anno feature ids: VAR_084089
up seq anno feature ids: VAR_084090
up seq anno feature ids: VAR_084091
up seq anno feature ids: VAR_084092
up seq anno feature ids: VAR_084093
up seq anno feature ids: VAR_084094
up seq anno feature ids: VAR_084095
up seq anno feature ids: VAR_084096
up seq anno feature ids: VAR_084097
up seq anno feature ids: VAR_084098
up seq anno feature ids: VSP_029928
up seq anno feature ids: VSP_029929
up seq anno feature ids: VSP_029930
up seq anno feature ids: VSP_029931

9606:INO80
gene id: 9606:INO80
uniprot id: A0A024R9R7
uniprot id: Q9ULG1
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: 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: Sequence Variant
up seq anno comments: Abolishes DNA-dependent ATPase and nucleosome remodeling activities.
up seq anno comments: Basic and acidic residues
up seq anno comments: Chromatin-remodeling ATPase INO80
up seq anno comments: DBINO
up seq anno comments: Helicase ATP-binding
up seq anno comments: Helicase C-terminal
up seq anno comments: N6-acetyllysine
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000248829
up seq anno feature ids: VAR_049500
up seq anno feature ids: VAR_061233

9606:RNF215
gene id: 9606:RNF215
uniprot id: Q9Y6U7
up 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 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 labels: Zinc Finger
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: RING finger protein 215
up seq anno comments: RING-type; atypical
up seq anno feature ids: PRO_0000287534
up seq anno feature ids: VAR_032319

9606:SLC35F3
gene id: 9606:SLC35F3
uniprot id: Q8IY50
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
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: Helical
up seq anno comments: In isoform 2.
up seq anno comments: Putative thiamine transporter SLC35F3
up seq anno feature ids: PRO_0000307879
up seq anno feature ids: VAR_036700
up seq anno feature ids: VSP_028850

9606:LIMS1
gene id: 9606:LIMS1
uniprot id: P48059
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: Secondary Structure
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: Alters interaction with ILK.
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: LIM and senescent cell antigen-like-containing domain protein 1
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: LIM zinc-binding 5
up seq anno comments: Loss of interaction with ILK and loss of localization to focal adhesion.
up seq anno comments: N-acetylalanine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000075888
up seq anno feature ids: VSP_042672
up seq anno feature ids: VSP_043210
up seq anno feature ids: VSP_043211
up seq anno feature ids: VSP_043212

9606:SSH1
gene id: 9606:SSH1
uniprot id: Q8WYL5
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: 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: Mutagenesis Site
up seq anno labels: Sequence Conflict
up seq anno labels: Splice Variant
up seq anno comments: Abrogates phosphatase activity.
up seq anno comments: Basic and acidic residues
up seq anno comments: DEK-C
up seq anno comments: Impairs stimulation of phosphatase activity by actin but does not affect basal activity.
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: Protein phosphatase Slingshot homolog 1
up seq anno comments: Reduces binding to YWHAB, YWHAG, YWHAQ and YWHAZ. Abolishes binding to YWHAB, YWHAG, YWHAQ and YWHAZ and increases association with F-actin; when associated with A-937.
up seq anno comments: Reduces binding to YWHAB, YWHAG, YWHAQ and YWHAZ. Abolishes binding to YWHAB, YWHAG, YWHAQ and YWHAZ and increases association with F-actin; when associated with A-978.
up seq anno comments: Removed
up seq anno comments: Tyrosine-protein phosphatase
up seq anno feature ids: PRO_0000094841
up seq anno feature ids: VSP_016311
up seq anno feature ids: VSP_016312
up seq anno feature ids: VSP_016313
up seq anno feature ids: VSP_016314
up seq anno feature ids: VSP_016315
up seq anno feature ids: VSP_016316
up seq anno feature ids: VSP_016317
up seq anno feature ids: VSP_016318
up seq anno feature ids: VSP_016319

9606:RBMX2
gene id: 9606:RBMX2
uniprot id: Q9Y388
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: Secondary Structure
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: Sequence Conflict
up seq anno labels: Sequence Variant
up seq anno labels: Strand
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
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: RNA-binding motif protein, X-linked 2
up seq anno comments: RRM
up seq anno feature ids: PRO_0000081897
up seq anno feature ids: VAR_033724

9606:EI24
gene id: 9606:EI24
uniprot id: A0A024R3I8
uniprot id: E9PK61
uniprot id: O14681
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 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: Transmembrane
up seq anno comments: Etoposide-induced protein 2.4 homolog
up seq anno comments: Helical
up seq anno comments: In isoform 2.
up seq anno comments: In some patients with early onset breast cancer.
up seq anno comments: In some patients with early onset breast cancer; requires 2 nucleotide substitutions.
up seq anno comments: N-acetylalanine
up seq anno comments: Phosphoserine
up seq anno comments: Removed
up seq anno feature ids: PRO_0000086945
up seq anno feature ids: VAR_065459
up seq anno feature ids: VAR_065460
up seq anno feature ids: VAR_065461
up seq anno feature ids: VAR_065462
up seq anno feature ids: VAR_065463
up seq anno feature ids: VAR_065464
up seq anno feature ids: VSP_055466

9606:BANF2
gene id: 9606:BANF2
uniprot id: Q9H503
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno labels: Chain
up seq anno labels: Sequence Variant
up seq anno labels: Splice Variant
up seq anno comments: Barrier-to-autointegration factor-like protein
up seq anno comments: In isoform 2.
up seq anno feature ids: PRO_0000221030
up seq anno feature ids: VAR_013693
up seq anno feature ids: VAR_024372
up seq anno feature ids: VSP_046080

9606:ZNF468
gene id: 9606:ZNF468
uniprot id: Q5VIY5
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 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 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
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 468
up seq anno feature ids: PRO_0000280412
up seq anno feature ids: VAR_031141
up seq anno feature ids: VAR_031142
up seq anno feature ids: VSP_023659

9606:CAB39
gene id: 9606:CAB39
uniprot id: Q9Y376
up seq anno parent labels: Experimental Information
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: Mutagenesis Site
up seq anno labels: Strand
up seq anno labels: Turn
up seq anno comments: Abolishes activation of STK11/LKB1; when associated with A-240.
up seq anno comments: Abolishes activation of STK11/LKB1; when associated with A-243.
up seq anno comments: Calcium-binding protein 39
up seq anno feature ids: PRO_0000209824

9606:PNMA3
gene id: 9606:PNMA3
uniprot id: Q9UL41
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 labels: Chain
up seq anno labels: Compositionally Biased 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 residues
up seq anno comments: CCHC-type
up seq anno comments: In isoform 2.
up seq anno comments: Paraneoplastic antigen Ma3
up seq anno feature ids: PRO_0000280215
up seq anno feature ids: VAR_057701
up seq anno feature ids: VAR_057702
up seq anno feature ids: VSP_023571

9606:CSNK1D
gene id: 9606:CSNK1D
uniprot id: P48730
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: Secondary Structure
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: 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: Basic and acidic residues
up seq anno comments: Casein kinase I isoform delta
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:LYNX1
gene id: 9606:LYNX1
uniprot id: P0DP58
up 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 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:GABRB2
gene id: 9606:GABRB2
uniprot id: P47870
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: Secondary Structure
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: 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: Displays reduced current rundown following repeated receptor activation.
up seq anno comments: Extracellular
up seq anno comments: Gamma-aminobutyric acid receptor subunit beta-2
up seq anno comments: Helical
up seq anno comments: In IECEE2; loss of localization to the cell membrane; retained intracellularly it affects the cell surface expression of the GABA receptor; decreased GABA receptor activity.
up seq anno comments: In IECEE2; 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: N-linked (GlcNAc...) asparagine
up seq anno comments: Phosphotyrosine
up seq anno feature ids: PRO_0000000459
up seq anno feature ids: VAR_080712
up seq anno feature ids: VAR_080713
up seq anno feature ids: VAR_080714
up seq anno feature ids: VAR_080715
up seq anno feature ids: VAR_080716
up seq anno feature ids: VAR_080717
up seq anno feature ids: VAR_080718
up seq anno feature ids: VAR_080719
up seq anno feature ids: VAR_080720
up seq anno feature ids: VSP_038823
up seq anno feature ids: VSP_038824
up seq anno feature ids: VSP_038825
up seq anno feature ids: VSP_038826
up seq anno feature ids: VSP_038827
up seq anno feature ids: VSP_038828

9606:VXN
gene id: 9606:VXN
uniprot id: Q8TAG6
up seq anno parent labels: Molecule Processing
up seq anno parent labels: Natural Variation
up seq anno parent labels: Region
up seq anno labels: Chain
up seq anno labels: Compositionally Biased Region
up seq anno labels: Splice Variant
up seq anno comments: Basic and acidic residues
up seq anno comments: In isoform 2.
up seq anno comments: Vexin
up seq anno feature ids: PRO_0000271014
up seq anno feature ids: VSP_038986

9606:UQCRHL
gene id: 9606:UQCRHL
uniprot id: A0A096LP55
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: Disulfide Bond
up seq anno labels: Modified Residue
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: Mitochondrion
up seq anno comments: N6-acetyllysine
up seq anno feature ids: PRO_0000435432

9606:RBM10
gene id: 9606:RBM10
uniprot id: A0A0S2Z4W4
uniprot id: A0A0S2Z4X1
uniprot id: P98175
uniprot id: Q7Z3D7
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: Secondary Structure
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: 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
up seq anno comments: C2H2-type; atypical
up seq anno comments: G-patch
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: N-acetylserine
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: RNA-binding protein 10
up seq anno comments: RRM
up seq anno comments: RRM 1
up seq anno comments: RRM 2
up seq anno comments: RanBP2-type
up seq anno comments: Removed
up seq anno feature ids: PRO_0000081767
up seq anno feature ids: VAR_035486
up seq anno feature ids: VSP_036035
up seq anno feature ids: VSP_036173
up seq anno feature ids: VSP_059341

9606:ZC3H3
gene id: 9606:ZC3H3
uniprot id: Q8IXZ2
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 labels: Chain
up seq anno labels: Compositionally Biased Region
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: 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: C3H1-type 4
up seq anno comments: C3H1-type 5
up seq anno comments: In isoform 2.
up seq anno comments: Phosphoserine
up seq anno comments: Polar residues
up seq anno comments: Zinc finger CCCH domain-containing protein 3
up seq anno feature ids: PRO_0000213896
up seq anno feature ids: VAR_018457
up seq anno feature ids: VAR_018458
up seq anno feature ids: VAR_018459
up seq anno feature ids: VAR_018460
up seq anno feature ids: VAR_018461
up seq anno feature ids: VAR_057484
up seq anno feature ids: VAR_057485
up seq anno feature ids: VAR_057486
up seq anno feature ids: VAR_057487
up seq anno feature ids: VAR_057488
up seq anno feature ids: VAR_060402
up seq anno feature ids: VAR_060403
up seq anno feature ids: VAR_060404
up seq anno feature ids: VAR_060405
up seq anno feature ids: VAR_060406
up seq anno feature ids: VAR_060407
up seq anno feature ids: VSP_010272
up seq anno feature ids: VSP_010273

9606:NANOGNB
gene id: 9606:NANOGNB
uniprot id: Q7Z5D8
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 comments: Basic and acidic residues
up seq anno comments: Homeobox
up seq anno comments: NANOG neighbor homeobox
up seq anno comments: Polar residues
up seq anno feature ids: PRO_0000341417

9606:TH
gene id: 9606:TH
uniprot id: P07101
uniprot id: P78428
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: Secondary Structure
up seq anno parent labels: 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 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: Affects subcellular localization. Accumulates mainly in the soma of the neuroblastoma cells.
up seq anno comments: Does not affect subcellular localization. Distributed throughout the soma and neurites.
up seq anno comments: Found in a patient with ARSEGS; unknown pathological significance.
up seq anno comments: In ARSEGS.
up seq anno comments: In ARSEGS; complete loss of tyrosine 3-monooxygenase activity.
up seq anno comments: In ARSEGS; loss of about 40% of tyrosine 3-monooxygenase activity.
up seq anno comments: In ARSEGS; loss of about 50% of tyrosine 3-monooxygenase activity; shifted substrate specificity from tyrosine to phenylalanine and Dopa.
up seq anno comments: In ARSEGS; loss of over 80% of tyrosine 3-monooxygenase activity.
up seq anno comments: In ARSEGS; loss of over 80% of tyrosine 3-monooxygenase activity; reduced affinity for L-tyrosine.
up seq anno comments: In ARSEGS; loss of over 80% of tyrosine 3-monooxygenase activity; shifted substrate specificity from tyrosine to phenylalanine and Dopa.
up seq anno comments: In ARSEGS; no effect on tyrosine 3-monooxygenase activity.
up seq anno comments: In ARSEGS; parkinsonian symptoms in infancy; loss of about 80% of tyrosine 3-monooxygenase activity.
up seq anno comments: In ARSEGS; parkinsonian symptoms in infancy; no effect on tyrosine 3-monooxygenase activity.
up seq anno comments: In ARSEGS; phenotype with prominent levodopa-responsive myoconus-dystonia (M-D).
up seq anno comments: In ARSEGS; severe parkinsonian symptoms in early infancy; strongly reduced stability and tyrosine 3-monooxygenase activity; rare mutation.
up seq anno comments: In isoform 1.
up seq anno comments: In isoform 2 and isoform 6.
up seq anno comments: In isoform 4 and isoform 5.
up seq anno comments: In isoform 5 and isoform 6.
up seq anno comments: Phosphoserine
up seq anno comments: Phosphoserine; by CaMK2
up seq anno comments: Phosphoserine; by CaMK2 and PKA
up seq anno comments: Suppresses feedback inhibition induced by dopamine. Suppresses feedback inhibition induced by dopamine; when associated with A-207.
up seq anno comments: Suppresses the decrease in tyrosine 3-monooxygenase activity induced by NEM modification. Suppresses feedback inhibition induced by dopamine; when associated with E-71.
up seq anno comments: Tyrosine 3-monooxygenase
up seq anno feature ids: PRO_0000205561
up seq anno feature ids: VAR_014025
up seq anno feature ids: VAR_014026
up seq anno feature ids: VAR_014027
up seq anno feature ids: VAR_014028
up seq anno feature ids: VAR_014029
up seq anno feature ids: VAR_014030
up seq anno feature ids: VAR_014031
up seq anno feature ids: VAR_014032
up seq anno feature ids: VAR_014033
up seq anno feature ids: VAR_071715
up seq anno feature ids: VAR_071716
up seq anno feature ids: VAR_071717
up seq anno feature ids: VAR_071718
up seq anno feature ids: VAR_071719
up seq anno feature ids: VAR_071720
up seq anno feature ids: VAR_072862
up seq anno feature ids: VAR_072863
up seq anno feature ids: VAR_072864
up seq anno feature ids: VAR_072865
up seq anno feature ids: VAR_072866
up seq anno feature ids: VAR_072867
up seq anno feature ids: VAR_072868
up seq anno feature ids: VAR_072869
up seq anno feature ids: VAR_072870
up seq anno feature ids: VAR_072871
up seq anno feature ids: VAR_072872
up seq anno feature ids: VAR_072873
up seq anno feature ids: VAR_072874
up seq anno feature ids: VAR_072875
up seq anno feature ids: VAR_072876
up seq anno feature ids: VAR_072877
up seq anno feature ids: VAR_072878
up seq anno feature ids: VAR_072879
up seq anno feature ids: VAR_072880

9606:ARMC3
gene id: 9606:ARMC3
uniprot id: B4DXS3
uniprot id: Q5W041
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 labels: Chain
up seq anno labels: Compositionally Biased 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: 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 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 3
up seq anno comments: Basic and acidic residues
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_0000284403
up seq anno feature ids: VAR_050669
up seq anno feature ids: VAR_050670
up seq anno feature ids: VAR_050671
up seq anno feature ids: VSP_024498
up seq anno feature ids: VSP_024500
up seq anno feature ids: VSP_024501
up seq anno feature ids: VSP_028551
up seq anno feature ids: VSP_028552

9606:NCAN
gene id: 9606:NCAN
uniprot id: A0A024R7M3
uniprot id: O14594
uniprot id: Q4LE67
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 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: 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: Transmembrane
up seq anno comments: Basic and acidic residues
up seq anno comments: Basic residues
up seq anno comments: C-type lectin
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: Helical
up seq anno comments: Ig-like
up seq anno comments: Ig-like V-type
up seq anno comments: Link
up seq anno comments: Link 1
up seq anno comments: Link 2
up seq anno comments: N-linked (GlcNAc...) asparagine
up seq anno comments: Neurocan core protein
up seq anno comments: Polar residues
up seq anno comments: Sushi
up seq anno feature ids: PRO_0000017516
up seq anno feature ids: PRO_5010010735
up seq anno feature ids: VAR_016176
up seq anno feature ids: VAR_020213
up seq anno feature ids: VAR_024521

9606:HSPB6
gene id: 9606:HSPB6
uniprot id: O14558
uniprot id: V9HWB6
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: Secondary Structure
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 comments: Deamidated glutamine
up seq anno comments: Decreases heteromer formation with CRYAB.
up seq anno comments: Decreases phosphorylation at Ser-16; abolishes cardioprotective effects.
up seq anno comments: Heat shock protein beta-6
up seq anno comments: Increases homodimer-based self-association properties; increases chaperone activity; when associated with G-3.
up seq anno comments: Increases homodimer-based self-association properties; increases chaperone activity; when associated with G-5.
up seq anno comments: No effect on homodimer-based self-association properties; no effect on chaperone activity.
up seq anno comments: Phosphoserine; by PKA
up seq anno comments: SHSP
up seq anno comments: sHSP
up seq anno feature ids: PRO_0000125939
up seq anno feature ids: VAR_077818